[ { "id": "Q17RB8-1.364.364", "start_pos": 364, "end_pos": 364, "uniprot_canonical_ac": "Q17RB8-1", "length": 773, "uniprot_id": "LONF1_HUMAN", "protein_name": "LON peptidase N-terminal domain and RING finger protein 1", "refseq_ac": "NP_001316905", "refseq_name": "LON peptidase N-terminal domain and RING finger protein 1 isoform 2", "gene_name": "LONRF1", "gene_names_uniprotkb": "LONRF1; RNF191", "gene_names_refseq": "LONRF1; RNF191", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q17RB8", "url": "https://www.uniprot.org/uniprotkb/Q17RB8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q17RB8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q17RB8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "LPCTKNRPFDFHSVMEESQS", "down_seq": "NEPSPKQSEEIPEVTSEPVK", "snv": [ { "evidence": [ { "id": "Q17RB8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q17RB8" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "12738018", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L364", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2", "end_pos": "2" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "739", "end_pos": "739" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "431", "end_pos": "431" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q17RB8-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q17RB8-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q17RB8-1.370.370", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q17RB8-1.367.367", "start_pos": 367, "end_pos": 367, "uniprot_canonical_ac": "Q17RB8-1", "length": 773, "uniprot_id": "LONF1_HUMAN", "protein_name": "LON peptidase N-terminal domain and RING finger protein 1", "refseq_ac": "NP_001316905", "refseq_name": "LON peptidase N-terminal domain and RING finger protein 1 isoform 2", "gene_name": "LONRF1", "gene_names_uniprotkb": "LONRF1; RNF191", "gene_names_refseq": "LONRF1; RNF191", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q17RB8", "url": "https://www.uniprot.org/uniprotkb/Q17RB8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs534271240", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534271240", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs534271240", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs534271240", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs534271240", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534271240", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs534271240", "url": "http://gnomad.broadinstitute.org/awesome?query=rs534271240", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs762195746", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762195746", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs762195746", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762195746", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs762195746", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762195746", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TKNRPFDFHSVMEESQSLNE", "down_seq": "SPKQSEEIPEVTSEPVKGSL", "snv": [ { "evidence": [ { "id": "rs534271240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534271240" }, { "id": "rs534271240", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs534271240" }, { "id": "rs534271240", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534271240" }, { "id": "rs534271240", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs534271240" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEP->NES).", "chr_id": "8", "chr_pos": "12738009", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "P367", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762195746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762195746" }, { "id": "rs762195746", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762195746" }, { "id": "rs762195746", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762195746" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEP->NET).", "chr_id": "8", "chr_pos": "12723248", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P367", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2", "end_pos": "2" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "739", "end_pos": "739" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "431", "end_pos": "431" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q17RB8-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q17RB8-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q17RB8-1.370.370", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q17RB8-1.370.370", "start_pos": 370, "end_pos": 370, "uniprot_canonical_ac": "Q17RB8-1", "length": 773, "uniprot_id": "LONF1_HUMAN", "protein_name": "LON peptidase N-terminal domain and RING finger protein 1", "refseq_ac": "NP_001316905", "refseq_name": "LON peptidase N-terminal domain and RING finger protein 1 isoform 2", "gene_name": "LONRF1", "gene_names_uniprotkb": "LONRF1; RNF191", "gene_names_refseq": "LONRF1; RNF191", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q17RB8", "url": "https://www.uniprot.org/uniprotkb/Q17RB8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748099411", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748099411", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748099411", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748099411", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748099411", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748099411", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "RPFDFHSVMEESQSLNEPSP", "down_seq": "QSEEIPEVTSEPVKGSLNRA", "snv": [ { "evidence": [ { "id": "rs748099411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748099411" }, { "id": "rs748099411", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748099411" }, { "id": "rs748099411", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748099411" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KQS->NQS).", "chr_id": "8", "chr_pos": "12737998", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K370", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2", "end_pos": "2" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "739", "end_pos": "739" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "431", "end_pos": "431" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q17RB8-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q17RB8-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q17RB8-1.367.367", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q17RB8-1.473.473", "start_pos": 473, "end_pos": 473, "uniprot_canonical_ac": "Q17RB8-1", "length": 773, "uniprot_id": "LONF1_HUMAN", "protein_name": "LON peptidase N-terminal domain and RING finger protein 1", "refseq_ac": "NP_001316905", "refseq_name": "LON peptidase N-terminal domain and RING finger protein 1 isoform 2", "gene_name": "LONRF1", "gene_names_uniprotkb": "LONRF1; RNF191", "gene_names_refseq": "LONRF1; RNF191", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q17RB8", "url": "https://www.uniprot.org/uniprotkb/Q17RB8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs759053128", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759053128", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs759053128", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759053128", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs759053128", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759053128#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs759053128", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759053128", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs759053128", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs759053128", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "TPNEVCMFSLAYGDIPEELI", "down_seq": "VSDFECSLCMRLFFEPVTTP", "snv": [ { "evidence": [ { "id": "rs759053128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759053128" }, { "id": "rs759053128", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759053128" }, { "id": "rs759053128", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759053128#frequency_tab" }, { "id": "rs759053128", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759053128" }, { "id": "rs759053128", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs759053128" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "8", "chr_pos": "12736735", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D473", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2", "end_pos": "2" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "739", "end_pos": "739" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "431", "end_pos": "431" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q17RB8-1.552.552", "start_pos": 552, "end_pos": 552, "uniprot_canonical_ac": "Q17RB8-1", "length": 773, "uniprot_id": "LONF1_HUMAN", "protein_name": "LON peptidase N-terminal domain and RING finger protein 1", "refseq_ac": "NP_001316905", "refseq_name": "LON peptidase N-terminal domain and RING finger protein 1 isoform 2", "gene_name": "LONRF1", "gene_names_uniprotkb": "LONRF1; RNF191", "gene_names_refseq": "LONRF1; RNF191", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q17RB8", "url": "https://www.uniprot.org/uniprotkb/Q17RB8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q17RB8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q17RB8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TQLLEELIVKYLPDELSERK", "down_seq": "IYDEETAELSHLTKNVPIFV", "snv": [ { "evidence": [ { "id": "Q17RB8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q17RB8" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "12731768", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K552", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2", "end_pos": "2" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "739", "end_pos": "739" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "431", "end_pos": "431" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q17RB8-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q17RB8-1.569.569", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q17RB8-1.563.563", "start_pos": 563, "end_pos": 563, "uniprot_canonical_ac": "Q17RB8-1", "length": 773, "uniprot_id": "LONF1_HUMAN", "protein_name": "LON peptidase N-terminal domain and RING finger protein 1", "refseq_ac": "NP_001316905", "refseq_name": "LON peptidase N-terminal domain and RING finger protein 1 isoform 2", "gene_name": "LONRF1", "gene_names_uniprotkb": "LONRF1; RNF191", "gene_names_refseq": "LONRF1; RNF191", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q17RB8", "url": "https://www.uniprot.org/uniprotkb/Q17RB8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1198510985", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1198510985", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1198510985", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1198510985", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "LPDELSERKKIYDEETAELS", "down_seq": "LTKNVPIFVCTMAYPTVPCP", "snv": [ { "evidence": [ { "id": "rs1198510985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1198510985" }, { "id": "rs1198510985", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1198510985" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HLT->NLT).", "chr_id": "8", "chr_pos": "12731737", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H563", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2", "end_pos": "2" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "739", "end_pos": "739" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "431", "end_pos": "431" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q17RB8-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q17RB8-1.569.569", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q17RB8-1.569.569", "start_pos": 569, "end_pos": 569, "uniprot_canonical_ac": "Q17RB8-1", "length": 773, "uniprot_id": "LONF1_HUMAN", "protein_name": "LON peptidase N-terminal domain and RING finger protein 1", "refseq_ac": "NP_001316905", "refseq_name": "LON peptidase N-terminal domain and RING finger protein 1 isoform 2", "gene_name": "LONRF1", "gene_names_uniprotkb": "LONRF1; RNF191", "gene_names_refseq": "LONRF1; RNF191", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q17RB8", "url": "https://www.uniprot.org/uniprotkb/Q17RB8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q17RB8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q17RB8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "ERKKIYDEETAELSHLTKNV", "down_seq": "IFVCTMAYPTVPCPLHVFEP", "snv": [ { "evidence": [ { "id": "Q17RB8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q17RB8" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "8", "chr_pos": "12729316", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P569", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2", "end_pos": "2" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "739", "end_pos": "739" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "431", "end_pos": "431" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q17RB8-1.552.552", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q17RB8-1.563.563", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q17RB8-1.739.739", "start_pos": 739, "end_pos": 739, "uniprot_canonical_ac": "Q17RB8-1", "length": 773, "uniprot_id": "LONF1_HUMAN", "protein_name": "LON peptidase N-terminal domain and RING finger protein 1", "refseq_ac": "NP_001316905", "refseq_name": "LON peptidase N-terminal domain and RING finger protein 1 isoform 2", "gene_name": "LONRF1", "gene_names_uniprotkb": "LONRF1; RNF191", "gene_names_refseq": "LONRF1; RNF191", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q17RB8", "url": "https://www.uniprot.org/uniprotkb/Q17RB8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q17RB8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q17RB8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "NLQAAPNGPAWCWWLLAVLP", "down_seq": "DPRYQLSVLSMKSLKERLTK", "snv": [ { "evidence": [ { "id": "Q17RB8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q17RB8" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "8", "chr_pos": "12723202", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V739", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2", "end_pos": "2" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "739", "end_pos": "739" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "431", "end_pos": "431" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q17RB8-1.431.431", "start_pos": 431, "end_pos": 431, "uniprot_canonical_ac": "Q17RB8-1", "length": 773, "uniprot_id": "LONF1_HUMAN", "protein_name": "LON peptidase N-terminal domain and RING finger protein 1", "refseq_ac": "NP_001316905", "refseq_name": "LON peptidase N-terminal domain and RING finger protein 1 isoform 2", "gene_name": "LONRF1", "gene_names_uniprotkb": "LONRF1; RNF191", "gene_names_refseq": "LONRF1; RNF191", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q17RB8", "url": "https://www.uniprot.org/uniprotkb/Q17RB8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q17RB8", "url": "https://www.uniprot.org/uniprotkb/Q17RB8", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VSSEPVLSVQEKGVLLKRKL", "down_seq": "LLEQDVIVNEDGRNKLKKQG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q17RB8", "url": "https://www.uniprot.org/uniprotkb/Q17RB8" } ], "site_lbl": "Ser431" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2", "end_pos": "2" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "552", "end_pos": "552" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "739", "end_pos": "739" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "431", "end_pos": "431" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15057-1.345.345", "start_pos": 345, "end_pos": 345, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q15057", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15057" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q15057", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15057" }, { "database": "O-GlcNAc Atlas", "id": "Q15057", "url": "https://oglcnac.org/atlas/detail/Q15057" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] } ], "crossref": [ { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15057", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15057", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15057", "url": "https://oglcnac.org/atlas/detail/Q15057", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ERRFCFEVVSPTKSCMLQAD", "down_seq": "EKLRQAWIKAVQTSIATAYR", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser345", "evidence": [ { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "Q15057", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15057" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "Q15057", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q15057" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15057-1.411.411", "start_pos": 411, "end_pos": 411, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "rs1323732359", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1323732359", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1323732359", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1323732359#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1323732359", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1323732359", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "SKEKLLKGESALQRVQCIPG", "down_seq": "ASCCDCGLADPRWASINLGI", "glycosylation": [ { "glytoucan_ac": "G27915IV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VQCIPGNASCCDCGLADPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn411", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "snv": [ { "evidence": [ { "id": "rs1323732359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1323732359" }, { "id": "rs1323732359", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1323732359#frequency_tab" }, { "id": "rs1323732359", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1323732359" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NAS->SAS).", "chr_id": "3", "chr_pos": "195302059", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N411", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q15057-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15057-1.413.413", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15057-1.442.442", "start_pos": 442, "end_pos": 442, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ACAPs are arf6 GTPase-activating proteins that function in the cell periphery.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Jackson TR, Brown FD, Nie Z, Miura K, Foroni L, Sun J, Hsu VW, Donaldson JG, Randazzo PA", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "reference": [ { "type": "PubMed", "id": "11062263", "url": "https://glygen.org/publication/PubMed/11062263" } ] } ], "crossref": [ { "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "11062263", "url": "https://glygen.org/publication/PubMed/11062263", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PRWASINLGITLCIECSGIH", "down_seq": "SLGVHFSKVRSLTLDTWEPE", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Loss of GAP activity.", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "PubMed", "id": "11062263", "url": "https://glygen.org/publication/PubMed/11062263" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q15057-1.439.439", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15057-1.721.721", "start_pos": 721, "end_pos": 721, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Rab35/ACAP2 and Rab35/RUSC2 Complex Structures Reveal Molecular Basis for Effector Recognition by Rab35 GTPase.", "journal": "Structure (London, England : 1993)", "date": "2019", "authors": "Lin L, Shi Y, Wang M, Wang C, Zhu J, Zhang R", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "RefSeq", "id": "NP_036419", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036419" } ], "reference": [ { "type": "PubMed", "id": "30905672", "url": "https://glygen.org/publication/PubMed/30905672" } ] } ], "crossref": [ { "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "30905672", "url": "https://glygen.org/publication/PubMed/30905672", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "HATDEEGKDPLSIAVEAANA", "down_seq": "IVTLLRLARMNEEMRESEGL", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Strong decrease in interaction with RAB35.", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "PubMed", "id": "30905672", "url": "https://glygen.org/publication/PubMed/30905672" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q15057-1.727.727", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q15057-1.731.731", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15057-1.727.727", "start_pos": 727, "end_pos": 727, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Rab35/ACAP2 and Rab35/RUSC2 Complex Structures Reveal Molecular Basis for Effector Recognition by Rab35 GTPase.", "journal": "Structure (London, England : 1993)", "date": "2019", "authors": "Lin L, Shi Y, Wang M, Wang C, Zhu J, Zhang R", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "RefSeq", "id": "NP_036419", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036419" } ], "reference": [ { "type": "PubMed", "id": "30905672", "url": "https://glygen.org/publication/PubMed/30905672" } ] } ], "crossref": [ { "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "30905672", "url": "https://glygen.org/publication/PubMed/30905672", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GKDPLSIAVEAANADIVTLL", "down_seq": "LARMNEEMRESEGLYGQPGD", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Decreased interaction with RAB35.", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "PubMed", "id": "30905672", "url": "https://glygen.org/publication/PubMed/30905672" } ] }, { "sequence_org": "R", "sequence_mut": "H", "comment": "Loss of interaction with RAB35.", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "PubMed", "id": "30905672", "url": "https://glygen.org/publication/PubMed/30905672" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q15057-1.721.721", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15057-1.731.731", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q15057-1.742.742", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15057-1.731.731", "start_pos": 731, "end_pos": 731, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Rab35/ACAP2 and Rab35/RUSC2 Complex Structures Reveal Molecular Basis for Effector Recognition by Rab35 GTPase.", "journal": "Structure (London, England : 1993)", "date": "2019", "authors": "Lin L, Shi Y, Wang M, Wang C, Zhu J, Zhang R", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "RefSeq", "id": "NP_036419", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036419" } ], "reference": [ { "type": "PubMed", "id": "30905672", "url": "https://glygen.org/publication/PubMed/30905672" } ] } ], "crossref": [ { "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "30905672", "url": "https://glygen.org/publication/PubMed/30905672", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "LSIAVEAANADIVTLLRLAR", "down_seq": "NEEMRESEGLYGQPGDETYQ", "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "A", "comment": "Strong decrease in interaction with RAB35.", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "PubMed", "id": "30905672", "url": "https://glygen.org/publication/PubMed/30905672" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q15057-1.721.721", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q15057-1.727.727", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15057-1.742.742", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q15057-1.750.750", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15057-1.756.756", "start_pos": 756, "end_pos": 756, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Rab35/ACAP2 and Rab35/RUSC2 Complex Structures Reveal Molecular Basis for Effector Recognition by Rab35 GTPase.", "journal": "Structure (London, England : 1993)", "date": "2019", "authors": "Lin L, Shi Y, Wang M, Wang C, Zhu J, Zhang R", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "RefSeq", "id": "NP_036419", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036419" } ], "reference": [ { "type": "PubMed", "id": "30905672", "url": "https://glygen.org/publication/PubMed/30905672" } ] } ], "crossref": [ { "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "30905672", "url": "https://glygen.org/publication/PubMed/30905672", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RESEGLYGQPGDETYQDIFR", "down_seq": "FSQMASNNPEKLNRFQQDSQ", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "K", "comment": "Decreased interaction with RAB35.", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "PubMed", "id": "30905672", "url": "https://glygen.org/publication/PubMed/30905672" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q15057-1.742.742", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q15057-1.750.750", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q15057-1.771.771", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q15057-1.775.775", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15057-1.128.128", "start_pos": 128, "end_pos": 128, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15057", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15057", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "QLQNFVKEDLRKFKDAKKQF", "down_seq": "KVSEEKENALVKNAQVQRNK", "snv": [ { "evidence": [ { "id": "Q15057", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15057" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "195342617", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E128", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15057-1.267.267", "start_pos": 267, "end_pos": 267, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs754436022", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754436022", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs754436022", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754436022", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs754436022", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754436022", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "QKDFSSDDSKLEYNVDAANG", "down_seq": "VMEGYLFKRASNAFKTWNRR", "snv": [ { "evidence": [ { "id": "rs754436022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754436022" }, { "id": "rs754436022", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754436022" }, { "id": "rs754436022", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754436022" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGI->NGT).", "chr_id": "3", "chr_pos": "195320758", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I267", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q15057-1.287.287", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15057-1.287.287", "start_pos": 287, "end_pos": 287, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1282078543", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1282078543", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1282078543", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1282078543#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1282078543", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1282078543", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1282078543", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1282078543", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IVMEGYLFKRASNAFKTWNR", "down_seq": "WFSIQNNQLVYQKKFKDNPT", "snv": [ { "evidence": [ { "id": "rs1282078543", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1282078543" }, { "id": "rs1282078543", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1282078543#frequency_tab" }, { "id": "rs1282078543", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1282078543" }, { "id": "rs1282078543", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1282078543" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NRR->NRC).", "chr_id": "3", "chr_pos": "195308836", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R287", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q15057-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15057-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q15057-1.306.306", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15057-1.296.296", "start_pos": 296, "end_pos": 296, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1182656680", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1182656680", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1182656680", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1182656680#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "RASNAFKTWNRRWFSIQNNQ", "down_seq": "VYQKKFKDNPTVVVEDLRLC", "snv": [ { "evidence": [ { "id": "rs1182656680", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1182656680" }, { "id": "rs1182656680", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1182656680#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQL->NQS).", "chr_id": "3", "chr_pos": "195308808", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L296", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q15057-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q15057-1.306.306", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15057-1.306.306", "start_pos": 306, "end_pos": 306, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs753611302", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753611302", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753611302", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753611302", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753611302", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753611302", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q15057", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15057", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs763853925", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763853925", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763853925", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763853925", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763853925", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763853925#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs763853925", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763853925", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs763853925", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763853925", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "RRWFSIQNNQLVYQKKFKDN", "down_seq": "TVVVEDLRLCTVKHCEDIER", "snv": [ { "evidence": [ { "id": "rs753611302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753611302" }, { "id": "rs753611302", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753611302" }, { "id": "rs753611302", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753611302" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPT->NAT).", "chr_id": "3", "chr_pos": "195307317", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P306", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q15057", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15057" }, { "id": "rs763853925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763853925" }, { "id": "rs763853925", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763853925" }, { "id": "rs763853925", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763853925#frequency_tab" }, { "id": "rs763853925", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763853925" }, { "id": "rs763853925", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763853925" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPT->NLT).", "chr_id": "3", "chr_pos": "195307316", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P306", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q15057-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q15057-1.296.296", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15057-1.376.376", "start_pos": 376, "end_pos": 376, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15057", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15057", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "VQTSIATAYREKGDESEKLD", "down_seq": "KSSPSTGSLDSGNESKEKLL", "snv": [ { "evidence": [ { "id": "Q15057", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15057" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KKS->NKS).", "chr_id": "3", "chr_pos": "195302163", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K376", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q15057-1.378.378", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15057-1.379.379", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q15057-1.384.384", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15057-1.387.387", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15057-1.404.404", "start_pos": 404, "end_pos": 404, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15057", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15057", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SLDSGNESKEKLLKGESALQ", "down_seq": "VQCIPGNASCCDCGLADPRW", "snv": [ { "evidence": [ { "id": "Q15057", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15057" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "195302081", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R404", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q15057-1.384.384", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q15057-1.387.387", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q15057-1.411.411", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15057-1.413.413", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15057-1.413.413", "start_pos": 413, "end_pos": 413, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1728095672", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1728095672", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1728095672", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1728095672#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EKLLKGESALQRVQCIPGNA", "down_seq": "CCDCGLADPRWASINLGITL", "snv": [ { "evidence": [ { "id": "rs1728095672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1728095672" }, { "id": "rs1728095672", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1728095672#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NAS->NAG).", "chr_id": "3", "chr_pos": "195302054", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S413", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q15057-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15057-1.411.411", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15057-1.439.439", "start_pos": 439, "end_pos": 439, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15057", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15057", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LADPRWASINLGITLCIECS", "down_seq": "IHRSLGVHFSKVRSLTLDTW", "snv": [ { "evidence": [ { "id": "Q15057", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15057" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "G", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "3", "chr_pos": "195301976", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G439", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q15057-1.442.442", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15057-1.537.537", "start_pos": 537, "end_pos": 537, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15057", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15057", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SISLSPPEQQKKFVSKSSEE", "down_seq": "RLSISKFGPGDQVRASAQSS", "snv": [ { "evidence": [ { "id": "Q15057", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15057" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "195295769", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K537", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q15057-1.521.521", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15057-1.540.540", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15057-1.540.540", "start_pos": 540, "end_pos": 540, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1290207233", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1290207233", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1290207233", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1290207233", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LSPPEQQKKFVSKSSEEKRL", "down_seq": "ISKFGPGDQVRASAQSSVRS", "snv": [ { "evidence": [ { "id": "rs1290207233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1290207233" }, { "id": "rs1290207233", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1290207233" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SIS->NIS).", "chr_id": "3", "chr_pos": "195295761", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S540", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q15057-1.521.521", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15057-1.537.537", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15057-1.620.620", "start_pos": 620, "end_pos": 620, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15057", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15057", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs747036309", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747036309", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs747036309", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747036309", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs747036309", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747036309#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs747036309", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747036309", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs747036309", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs747036309", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "DSKHLNPGLQLYRASYEKNL", "down_seq": "KMAEALAHGADVNWANSEEN", "snv": [ { "evidence": [ { "id": "Q15057", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15057" }, { "id": "rs747036309", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747036309" }, { "id": "rs747036309", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747036309" }, { "id": "rs747036309", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747036309#frequency_tab" }, { "id": "rs747036309", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747036309" }, { "id": "rs747036309", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs747036309" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "3", "chr_pos": "195292360", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P620", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15057-1.665.665", "start_pos": 665, "end_pos": 665, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1727312409", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1727312409", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1727312409", "url": "https://www.ensembl.org/id/rs1727312409", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LIQAVLGGSLVTCEFLLQNG", "down_seq": "NVNQRDVQGRGPLHHATVLG", "snv": [ { "evidence": [ { "id": "rs1727312409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1727312409" }, { "id": "rs1727312409", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1727312409" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "3", "chr_pos": "195292330", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A665", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q15057-1.668.668", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q15057-1.670.670", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15057-1.668.668", "start_pos": 668, "end_pos": 668, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs763075303", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763075303", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763075303", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763075303", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs763075303", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763075303", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763075303", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763075303#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs763075303", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763075303", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "AVLGGSLVTCEFLLQNGANV", "down_seq": "QRDVQGRGPLHHATVLGHTG", "snv": [ { "evidence": [ { "id": "rs763075303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763075303" }, { "id": "rs763075303", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763075303" }, { "id": "rs763075303", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763075303" }, { "id": "rs763075303", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763075303#frequency_tab" }, { "id": "rs763075303", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763075303" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "3", "chr_pos": "195291766", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N668", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q15057-1.665.665", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15057-1.670.670", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15057-1.670.670", "start_pos": 670, "end_pos": 670, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1727271556", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1727271556", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1727271556", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1727271556#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LGGSLVTCEFLLQNGANVNQ", "down_seq": "DVQGRGPLHHATVLGHTGQV", "snv": [ { "evidence": [ { "id": "rs1727271556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1727271556" }, { "id": "rs1727271556", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1727271556#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQR->NQT).", "chr_id": "3", "chr_pos": "195291760", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R670", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q15057-1.665.665", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15057-1.668.668", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15057-1.771.771", "start_pos": 771, "end_pos": 771, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs899292995", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs899292995", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs899292995", "url": "https://www.ncbi.nlm.nih.gov/snp/rs899292995#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs899292995", "url": "http://gnomad.broadinstitute.org/awesome?query=rs899292995", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "QDIFRDFSQMASNNPEKLNR", "down_seq": "QQDSQKF", "snv": [ { "evidence": [ { "id": "rs899292995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs899292995" }, { "id": "rs899292995", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs899292995#frequency_tab" }, { "id": "rs899292995", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs899292995" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRF->NRC).", "chr_id": "3", "chr_pos": "195279353", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F771", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q15057-1.756.756", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15057-1.775.775", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15057-1.378.378", "start_pos": 378, "end_pos": 378, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TSIATAYREKGDESEKLDKK", "down_seq": "SPSTGSLDSGNESKEKLLKG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser378" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q15057-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q15057-1.379.379", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q15057-1.384.384", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15057-1.387.387", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15057-1.379.379", "start_pos": 379, "end_pos": 379, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SIATAYREKGDESEKLDKKS", "down_seq": "PSTGSLDSGNESKEKLLKGE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser379" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q15057-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q15057-1.378.378", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q15057-1.384.384", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q15057-1.387.387", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15057-1.384.384", "start_pos": 384, "end_pos": 384, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YREKGDESEKLDKKSSPSTG", "down_seq": "LDSGNESKEKLLKGESALQR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser384" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q15057-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q15057-1.378.378", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q15057-1.379.379", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15057-1.387.387", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q15057-1.404.404", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15057-1.387.387", "start_pos": 387, "end_pos": 387, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KGDESEKLDKKSSPSTGSLD", "down_seq": "GNESKEKLLKGESALQRVQC", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "site_lbl": "Ser387" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q15057-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q15057-1.378.378", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q15057-1.379.379", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15057-1.384.384", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q15057-1.404.404", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15057-1.521.521", "start_pos": 521, "end_pos": 521, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Exploring the human leukocyte phosphoproteome using a microfluidic reversed-phase-TiO2-reversed-phase high-performance liquid chromatography phosphochip coupled to a quadrupole time-of-flight mass spectrometer.", "journal": "Analytical chemistry", "date": "2010", "authors": "Raijmakers R, Kraiczek K, de Jong AP, Mohammed S, Heck AJ", "evidence": [ { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "reference": [ { "type": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ] } ], "crossref": [ { "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AYIRAKYVERKFVDKYSISL", "down_seq": "PPEQQKKFVSKSSEEKRLSI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ], "site_lbl": "Ser521" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "Q15057-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q15057-1.540.540", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15057-1.581.581", "start_pos": 581, "end_pos": 581, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NDSGIQQSSDDGRESLPSTV", "down_seq": "ANSLYEPEGERQDSSMFLDS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "site_lbl": "Ser581" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q15057-1.584.584", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q15057-1.586.586", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15057-1.584.584", "start_pos": 584, "end_pos": 584, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GIQQSSDDGRESLPSTVSAN", "down_seq": "LYEPEGERQDSSMFLDSKHL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "site_lbl": "Ser584" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q15057-1.581.581", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15057-1.586.586", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15057-1.586.586", "start_pos": 586, "end_pos": 586, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Immobilized metal affinity chromatography revisited: pH/acid control toward high selectivity in phosphoproteomics.", "journal": "Journal of proteome research", "date": "2008", "authors": "Tsai CF, Wang YT, Chen YR, Lai CY, Lin PY, Pan KT, Chen JY, Khoo KH, Chen YJ", "evidence": [ { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "reference": [ { "type": "PubMed", "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149" } ] } ], "crossref": [ { "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "QQSSDDGRESLPSTVSANSL", "down_seq": "EPEGERQDSSMFLDSKHLNP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" }, { "database": "PubMed", "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149" } ], "site_lbl": "Tyr586" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q15057-1.581.581", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15057-1.584.584", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15057-1.742.742", "start_pos": 742, "end_pos": 742, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] } ], "crossref": [ { "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "IVTLLRLARMNEEMRESEGL", "down_seq": "GQPGDETYQDIFRDFSQMAS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "site_lbl": "Tyr742" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q15057-1.727.727", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q15057-1.731.731", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q15057-1.750.750", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15057-1.756.756", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15057-1.750.750", "start_pos": 750, "end_pos": 750, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] } ], "crossref": [ { "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "RMNEEMRESEGLYGQPGDET", "down_seq": "QDIFRDFSQMASNNPEKLNR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ], "site_lbl": "Tyr750" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q15057-1.731.731", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q15057-1.742.742", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q15057-1.756.756", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15057-1.775.775", "start_pos": 775, "end_pos": 775, "uniprot_canonical_ac": "Q15057-1", "length": 778, "uniprot_id": "ACAP2_HUMAN", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "refseq_ac": "NP_036419", "refseq_name": "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "gene_name": "ACAP2", "gene_names_uniprotkb": "ACAP2; CENTB2; KIAA0041", "gene_names_refseq": "ACAP2; CENTB2; CNT-B2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ", "evidence": [ { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] } ], "crossref": [ { "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RDFSQMASNNPEKLNRFQQD", "down_seq": "QKF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15057", "url": "https://www.uniprot.org/uniprotkb/Q15057" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q15057", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15057" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ], "site_lbl": "Ser775" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "345", "end_pos": "345" }, { "start_pos": "411", "end_pos": "411" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "442", "end_pos": "442" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "756", "end_pos": "756" } ] }, { "type": "snv", "site_list": [ { "start_pos": "128", "end_pos": "128" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "668", "end_pos": "668" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "771", "end_pos": "771" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "581", "end_pos": "581" }, { "start_pos": "584", "end_pos": "584" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "742", "end_pos": "742" }, { "start_pos": "750", "end_pos": "750" }, { "start_pos": "775", "end_pos": "775" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q15057-1.756.756", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q15057-1.771.771", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60706-1.326.326", "start_pos": 326, "end_pos": 326, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1187106310", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1187106310", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1187106310", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1187106310", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LADLLGFAGPLCISGIVQRV", "down_seq": "ETQNGTNNTTGISETLSSKE", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn326", "evidence": [ { "id": "O60706", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O60706#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1187106310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1187106310" }, { "id": "rs1187106310", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1187106310" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NET->SET).", "chr_id": "12", "chr_pos": "21912906", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N326", "disease": [ { "disease_id": "DOID:0110451", "recommended_name": { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy 1O", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1." }, "synonyms": [ { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy with ventricular tachycardia", "description": "" }, { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy 1O", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "ABCC9 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "familial isolated dilated cardiomyopathy caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, 1O", "description": "" }, { "id": "MIM:608569", "resource": "MIM", "url": "https://www.omim.org/entry/608569", "name": "Cardiomyopathy, dilated, 1O", "description": "Cardiomyopathy, dilated, 1O" } ], "unlinked_id_list": [], "evidence": [ { "id": "608569", "database": "MIM", "url": "https://www.omim.org/entry/608569" }, { "id": "0110451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110451" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1187106310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1187106310" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NET->TET).", "chr_id": "12", "chr_pos": "21912906", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N326", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "O60706-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60706-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60706-1.330.330", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60706-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60706-1.333.333", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60706-1.334.334", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60706-1.336.336", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.330.330", "start_pos": 330, "end_pos": 330, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs757612560", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757612560", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LGFAGPLCISGIVQRVNETQ", "down_seq": "GTNNTTGISETLSSKEFLEN", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn330", "evidence": [ { "id": "O60706", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O60706#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs757612560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757612560" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGT->KGT).", "chr_id": "12", "chr_pos": "21912893", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N330", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "O60706-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60706-1.326.326", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60706-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60706-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60706-1.333.333", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60706-1.334.334", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60706-1.336.336", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.333.333", "start_pos": 333, "end_pos": 333, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs531754904", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531754904", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs531754904", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs531754904", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs531754904", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531754904", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs531754904", "url": "https://www.ncbi.nlm.nih.gov/snp/rs531754904#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs531754904", "url": "http://gnomad.broadinstitute.org/awesome?query=rs531754904", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "AGPLCISGIVQRVNETQNGT", "down_seq": "NTTGISETLSSKEFLENAYV", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn333", "evidence": [ { "id": "O60706", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O60706#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs531754904", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531754904" }, { "id": "rs531754904", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs531754904" }, { "id": "rs531754904", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531754904" }, { "id": "rs531754904", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs531754904#frequency_tab" }, { "id": "rs531754904", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs531754904" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NNT->INT).", "chr_id": "12", "chr_pos": "21912885", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "N333", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NNT->KNT).", "chr_id": "12", "chr_pos": "21912884", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N333", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs531754904", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531754904" }, { "id": "rs531754904", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs531754904" }, { "id": "rs531754904", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531754904" }, { "id": "rs531754904", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs531754904#frequency_tab" }, { "id": "rs531754904", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs531754904" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NNT->SNT).", "chr_id": "12", "chr_pos": "21912885", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "N333", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "O60706-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60706-1.326.326", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60706-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60706-1.330.330", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60706-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60706-1.334.334", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60706-1.336.336", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.334.334", "start_pos": 334, "end_pos": 334, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GPLCISGIVQRVNETQNGTN", "down_seq": "TTGISETLSSKEFLENAYVL", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn334", "evidence": [ { "id": "O60706", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O60706#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NTT->KTT).", "chr_id": "12", "chr_pos": "21912881", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "N334", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NTT->TTT).", "chr_id": "12", "chr_pos": "21912882", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N334", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "O60706-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60706-1.326.326", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60706-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60706-1.330.330", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60706-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60706-1.333.333", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60706-1.336.336", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.495.495", "start_pos": 495, "end_pos": 495, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] } ], "crossref": [ { "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] }, { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TKLAEAQKSTLDYSTERLKK", "down_seq": "NEILKGIKLLKLYAWEHIFC", "glycosylation": [ { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr495", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] } ], "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "12", "chr_pos": "21906261", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T495", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "12", "chr_pos": "21906260", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T495", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->R).", "chr_id": "12", "chr_pos": "21906260", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T495", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "O60706-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60706-1.493.493", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60706-1.535.535", "start_pos": 535, "end_pos": 535, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60706", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60706" }, { "database": "O-GlcNAc Atlas", "id": "O60706", "url": "https://oglcnac.org/atlas/detail/O60706" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] } ], "crossref": [ { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60706", "url": "https://oglcnac.org/atlas/detail/O60706", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs397517184", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397517184", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs397517184", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397517184", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs397517184", "url": "https://www.ncbi.nlm.nih.gov/snp/rs397517184#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs397517184", "url": "http://gnomad.broadinstitute.org/awesome?query=rs397517184", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "CKSVEETRMKELSSLKTFAL", "down_seq": "TSLSIFMNAAIPIAAVLATF", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "Y", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Tyr", "end_aa": "Tyr", "residue": "Tyr", "site_lbl": "Tyr535", "evidence": [ { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "O60706", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60706" } ] } ], "snv": [ { "evidence": [ { "id": "rs397517184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397517184" }, { "id": "rs397517184", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397517184" }, { "id": "rs397517184", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs397517184#frequency_tab" }, { "id": "rs397517184", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs397517184" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (Y->H).", "chr_id": "12", "chr_pos": "21906141", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y535", "disease": [ { "disease_id": "DOID:0050650", "recommended_name": { "id": "DOID:0050650", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050650", "name": "familial atrial fibrillation", "description": "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes." }, "synonyms": [ { "id": "DOID:0050650", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050650", "name": "ATFB", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "atrial fibrillation, familial, 3", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene." }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "KCNQ1 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "atrial fibrillation, familial, 3", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "atrial fibrillation, familial, type 3", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "familial atrial fibrillation caused by mutation in KCNQ1", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "ATFB3", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, familial, 1", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, autosomal dominant", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "ATFB1", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, familial, 1", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "atrial fibrillation, familial, 2", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "ATFB2", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "atrial fibrillation, familial, 2", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, 4", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene." }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "KCNE2 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, 4", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, type 4", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "familial atrial fibrillation caused by mutation in KCNE2", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "ATFB4", "description": "" }, { "id": "MONDO:0012678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012678", "name": "atrial fibrillation, familial, 5", "description": "" }, { "id": "MONDO:0012678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012678", "name": "ATFB5", "description": "" }, { "id": "MONDO:0012678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012678", "name": "atrial fibrillation, familial, 5", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "atrial fibrillation, familial, 6", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene." }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "NPPA familial atrial fibrillation", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "atrial fibrillation, familial, 6", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "atrial fibrillation, familial, type 6", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "familial atrial fibrillation caused by mutation in NPPA", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "ATFB6", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "atrial fibrillation, familial, 7", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene." }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "KCNA5 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "atrial fibrillation, familial, 7", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "atrial fibrillation, familial, type 7", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "familial atrial fibrillation caused by mutation in KCNA5", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "ATFB7", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "atrial fibrillation, familial, 8", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "ATFB8", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "atrial fibrillation, familial, 8", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "atrial fibrillation, familial, 9", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene." }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "KCNJ2 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "atrial fibrillation, familial, 9", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "atrial fibrillation, familial, type 9", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "familial atrial fibrillation caused by mutation in KCNJ2", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "ATFB9", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, 10", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene." }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "SCN5A familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, 10", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, type 10", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "familial atrial fibrillation caused by mutation in SCN5A", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "ATFB10", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "atrial fibrillation, familial, 11", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene." }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "GJA5 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "atrial fibrillation, familial, 11", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "atrial fibrillation, familial, type 11", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "familial atrial fibrillation caused by mutation in GJA5", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "ATFB11", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "atrial fibrillation, familial, 12", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "ABCC9 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "atrial fibrillation, familial, 12", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "atrial fibrillation, familial, type 12", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "familial atrial fibrillation caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "ATFB12", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "atrial fibrillation, familial, 13", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene." }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "SCN1B familial atrial fibrillation", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "atrial fibrillation, familial, 13", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "atrial fibrillation, familial, type 13", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "familial atrial fibrillation caused by mutation in SCN1B", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "ATFB13", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "atrial fibrillation, familial, 14", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene." }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "SCN2B familial atrial fibrillation", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "atrial fibrillation, familial, 14", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "atrial fibrillation, familial, type 14", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "familial atrial fibrillation caused by mutation in SCN2B", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "ATFB14", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation, familial, 15", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene." }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "NUP155 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation 15", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation, familial, 15", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation, familial, type 15", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "familial atrial fibrillation caused by mutation in NUP155", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "ATFB15", "description": "" }, { "id": "MIM:607554", "resource": "MIM", "url": "https://www.omim.org/entry/607554", "name": "Atrial fibrillation, familial, 3", "description": "Atrial fibrillation, familial, 3" }, { "id": "MIM:611493", "resource": "MIM", "url": "https://www.omim.org/entry/611493", "name": "Atrial fibrillation, familial, 4", "description": "Atrial fibrillation, familial, 4" }, { "id": "MIM:612201", "resource": "MIM", "url": "https://www.omim.org/entry/612201", "name": "Atrial fibrillation, familial, 6", "description": "Atrial fibrillation, familial, 6" }, { "id": "MIM:612240", "resource": "MIM", "url": "https://www.omim.org/entry/612240", "name": "Atrial fibrillation, familial, 7", "description": "Atrial fibrillation, familial, 7" }, { "id": "MIM:613055", "resource": "MIM", "url": "https://www.omim.org/entry/613055", "name": "Atrial fibrillation, familial, 8", "description": "Atrial fibrillation, familial, 8" }, { "id": "MIM:613980", "resource": "MIM", "url": "https://www.omim.org/entry/613980", "name": "Atrial fibrillation, familial, 9", "description": "Atrial fibrillation, familial, 9" }, { "id": "MIM:614022", "resource": "MIM", "url": "https://www.omim.org/entry/614022", "name": "Atrial fibrillation, familial, 10", "description": "Atrial fibrillation, familial, 10" }, { "id": "MIM:614049", "resource": "MIM", "url": "https://www.omim.org/entry/614049", "name": "Atrial fibrillation, familial, 11", "description": "Atrial fibrillation, familial, 11" }, { "id": "MIM:614050", "resource": "MIM", "url": "https://www.omim.org/entry/614050", "name": "Atrial fibrillation, familial, 12", "description": "Atrial fibrillation, familial, 12" }, { "id": "MIM:615377", "resource": "MIM", "url": "https://www.omim.org/entry/615377", "name": "Atrial fibrillation, familial, 13", "description": "Atrial fibrillation, familial, 13" }, { "id": "MIM:615378", "resource": "MIM", "url": "https://www.omim.org/entry/615378", "name": "Atrial fibrillation, familial, 14", "description": "Atrial fibrillation, familial, 14" }, { "id": "MIM:615770", "resource": "MIM", "url": "https://www.omim.org/entry/615770", "name": "Atrial fibrillation, familial, 15", "description": "Atrial fibrillation, familial, 15" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" }, { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "disease_id": "DOID:0110451", "recommended_name": { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy 1O", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1." }, "synonyms": [ { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy with ventricular tachycardia", "description": "" }, { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy 1O", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "ABCC9 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "familial isolated dilated cardiomyopathy caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, 1O", "description": "" }, { "id": "MIM:608569", "resource": "MIM", "url": "https://www.omim.org/entry/608569", "name": "Cardiomyopathy, dilated, 1O", "description": "Cardiomyopathy, dilated, 1O" } ], "unlinked_id_list": [], "evidence": [ { "id": "608569", "database": "MIM", "url": "https://www.omim.org/entry/608569" }, { "id": "0110451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110451" } ] }, { "disease_id": "DOID:0060569", "recommended_name": { "id": "DOID:0060569", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060569", "name": "hypertrichotic osteochondrodysplasia Cantu type", "description": "An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly." }, "synonyms": [ { "id": "DOID:0060569", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060569", "name": "Cantu syndrome", "description": "" }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "hypertrichotic osteochondrodysplasia Cantu type", "description": "Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "Cantu syndrome", "description": "" }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "hypertrichotic osteochondrodysplasia (Cantu syndrome)", "description": "" }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "Craniofaciocardioskeletal syndrome", "description": "" }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "hypertrichotic osteochondrodysplasia", "description": "" }, { "id": "MIM:239850", "resource": "MIM", "url": "https://www.omim.org/entry/239850", "name": "Hypertrichotic osteochondrodysplasia", "description": "Hypertrichotic osteochondrodysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060569", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060569" }, { "id": "0060569", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060569" }, { "id": "0060569", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060569" } ] }, { "disease_id": "DOID:0070600", "recommended_name": { "id": "DOID:0070600", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070600", "name": "intellectual disability and myopathy syndrome", "description": "A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the ABCC9 gene on chromosome 12p12." }, "synonyms": [ { "id": "DOID:0070600", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070600", "name": "ABCC9-related intellectual disability and myopathy", "description": "" }, { "id": "DOID:0070600", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070600", "name": "AIMS", "description": "" }, { "id": "DOID:0070600", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070600", "name": "IDMYS", "description": "" }, { "id": "MONDO:0859224", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859224", "name": "intellectual disability and myopathy syndrome", "description": "" }, { "id": "MIM:619719", "resource": "MIM", "url": "https://www.omim.org/entry/619719", "name": "Intellectual disability and myopathy syndrome", "description": "Intellectual disability and myopathy syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "619719", "database": "MIM", "url": "https://www.omim.org/entry/619719" }, { "id": "0070600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070600" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "O60706-1.537.537", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60706-1.539.539", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60706-1.545.545", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60706-1.537.537", "start_pos": 537, "end_pos": 537, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60706", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60706" }, { "database": "O-GlcNAc Atlas", "id": "O60706", "url": "https://oglcnac.org/atlas/detail/O60706" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] } ], "crossref": [ { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60706", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60706", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "O60706", "url": "https://oglcnac.org/atlas/detail/O60706", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SVEETRMKELSSLKTFALYT", "down_seq": "LSIFMNAAIPIAAVLATFVT", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser537", "evidence": [ { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "O60706", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60706" }, { "id": "O60706", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60706" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "O60706-1.535.535", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60706-1.539.539", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60706-1.545.545", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60706-1.539.539", "start_pos": 539, "end_pos": 539, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60706", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60706" }, { "database": "O-GlcNAc Atlas", "id": "O60706", "url": "https://oglcnac.org/atlas/detail/O60706" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] } ], "crossref": [ { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60706", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60706", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "O60706", "url": "https://oglcnac.org/atlas/detail/O60706", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1565470260", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1565470260", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1565470260", "url": "https://www.ensembl.org/id/rs1565470260", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1565470260", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1565470260", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EETRMKELSSLKTFALYTSL", "down_seq": "IFMNAAIPIAAVLATFVTHA", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser539", "evidence": [ { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "O60706", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60706" }, { "id": "O60706", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60706" } ] } ], "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" }, { "id": "rs1565470260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1565470260" }, { "id": "rs1565470260", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1565470260" }, { "id": "rs1565470260", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1565470260" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->C).", "chr_id": "12", "chr_pos": "21906128", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S539", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "O60706-1.535.535", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60706-1.537.537", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60706-1.545.545", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60706-1.559.559", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60706-1.9.9", "start_pos": 9, "end_pos": 9, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs895752614", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs895752614", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs895752614", "url": "https://www.ensembl.org/id/rs895752614", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs776881654", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776881654", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776881654", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776881654", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776881654", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776881654#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs776881654", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776881654", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1949499149", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1949499149", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "MSLSFCGN", "down_seq": "ISSYNINDGVLQNSCFVDAL", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn9", "evidence": [ { "id": "O60706", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O60706#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs895752614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs895752614" }, { "id": "rs895752614", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs895752614" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIS->DIS).", "chr_id": "12", "chr_pos": "21936650", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N9", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs895752614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs895752614" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIS->HIS).", "chr_id": "12", "chr_pos": "21936650", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N9", "disease": [ { "disease_id": "DOID:0110451", "recommended_name": { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy 1O", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1." }, "synonyms": [ { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy with ventricular tachycardia", "description": "" }, { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy 1O", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "ABCC9 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "familial isolated dilated cardiomyopathy caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, 1O", "description": "" }, { "id": "MIM:608569", "resource": "MIM", "url": "https://www.omim.org/entry/608569", "name": "Cardiomyopathy, dilated, 1O", "description": "Cardiomyopathy, dilated, 1O" } ], "unlinked_id_list": [], "evidence": [ { "id": "608569", "database": "MIM", "url": "https://www.omim.org/entry/608569" }, { "id": "0110451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110451" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs776881654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776881654" }, { "id": "rs776881654", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776881654" }, { "id": "rs776881654", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776881654#frequency_tab" }, { "id": "rs776881654", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776881654" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIS->SIS).", "chr_id": "12", "chr_pos": "21936649", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N9", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1949499149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1949499149" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIS->XIS).", "chr_id": "12", "chr_pos": "21936648GTT", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N9", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "O60706-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60706-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60706-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60706-1.18.18", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1006.1006", "start_pos": 1006, "end_pos": 1006, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LTSGGFFLLILMIFSKLLKH", "down_seq": "VIVAIDYWLATWTSEYSINN", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "12", "chr_pos": "21845682", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1006", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1031.1031", "start_pos": 1031, "end_pos": 1031, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "IDYWLATWTSEYSINNTGKA", "down_seq": "QTYYVAGFSILCGAGIFLCL", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DQT->NQT).", "chr_id": "12", "chr_pos": "21845608", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1031", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1076.1076", "start_pos": 1076, "end_pos": 1076, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1356591712", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1356591712", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1356591712", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1356591712#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1356591712", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1356591712", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1356591712", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1356591712", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "TVEWMGLTAAKNLHHNLLNK", "down_seq": "ILGPIRFFDTTPLGLILNRF", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "I", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21844785", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "I1076", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1356591712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1356591712" }, { "id": "rs1356591712", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1356591712#frequency_tab" }, { "id": "rs1356591712", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1356591712" }, { "id": "rs1356591712", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1356591712" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NKI->NKT).", "chr_id": "12", "chr_pos": "21844785", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1076", "disease": [ { "disease_id": "DOID:0110451", "recommended_name": { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy 1O", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1." }, "synonyms": [ { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy with ventricular tachycardia", "description": "" }, { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy 1O", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "ABCC9 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "familial isolated dilated cardiomyopathy caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, 1O", "description": "" }, { "id": "MIM:608569", "resource": "MIM", "url": "https://www.omim.org/entry/608569", "name": "Cardiomyopathy, dilated, 1O", "description": "Cardiomyopathy, dilated, 1O" } ], "unlinked_id_list": [], "evidence": [ { "id": "608569", "database": "MIM", "url": "https://www.omim.org/entry/608569" }, { "id": "0110451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110451" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "O60706-1.1095.1095", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1095.1095", "start_pos": 1095, "end_pos": 1095, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KIILGPIRFFDTTPLGLILN", "down_seq": "FSADTNIIDQHIPPTLESLT", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "12", "chr_pos": "21844515", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1095", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60706-1.1076.1076", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.109.109", "start_pos": 109, "end_pos": 109, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "EGIVSDSRRESRHLHLFMPA", "down_seq": "MGFVATTTSIVYYHNIETSN", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "12", "chr_pos": "21926023", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V109", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "O60706-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "O60706-1.97.97", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.10.10", "start_pos": 10, "end_pos": 10, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1949499045", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1949499045", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1949499045", "url": "https://www.ensembl.org/id/rs1949499045", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "MSLSFCGNN", "down_seq": "SSYNINDGVLQNSCFVDALN", "snv": [ { "evidence": [ { "id": "rs1949499045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1949499045" }, { "id": "rs1949499045", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1949499045" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNI->NNS).", "chr_id": "12", "chr_pos": "21936646", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I10", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "O60706-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60706-1.9.9", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60706-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60706-1.18.18", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1154.1154", "start_pos": 1154, "end_pos": 1154, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VFLVALLPLGVAFYFIQKYF", "down_seq": "VASKDLQELDDSTQLPLLCH", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "12", "chr_pos": "21842327", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1154", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "O60706-1.1164.1164", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60706-1.1165.1165", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1164.1164", "start_pos": 1164, "end_pos": 1164, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2137338519", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2137338519", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2137338519", "url": "https://www.ensembl.org/id/rs2137338519", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VAFYFIQKYFRVASKDLQEL", "down_seq": "DSTQLPLLCHFSETAEGLTT", "snv": [ { "evidence": [ { "id": "rs2137338519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2137338519" }, { "id": "rs2137338519", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2137338519" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "12", "chr_pos": "21838154", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1164", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "O60706-1.1154.1154", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60706-1.1165.1165", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1165.1165", "start_pos": 1165, "end_pos": 1165, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "AFYFIQKYFRVASKDLQELD", "down_seq": "STQLPLLCHFSETAEGLTTI", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "12", "chr_pos": "21838151", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1165", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "O60706-1.1154.1154", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60706-1.1164.1164", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1197.1197", "start_pos": 1197, "end_pos": 1197, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ETAEGLTTIRAFRHETRFKQ", "down_seq": "MLELTDTNNIAYLFLSAANR", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21829038", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1197", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "O60706-1.1202.1202", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60706-1.1208.1208", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1202.1202", "start_pos": 1202, "end_pos": 1202, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LTTIRAFRHETRFKQRMLEL", "down_seq": "DTNNIAYLFLSAANRWLEVR", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21829022", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1202", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "O60706-1.1197.1197", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60706-1.1208.1208", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1208.1208", "start_pos": 1208, "end_pos": 1208, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2540964166", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2540964166", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "FRHETRFKQRMLELTDTNNI", "down_seq": "YLFLSAANRWLEVRTDYLGA", "snv": [ { "evidence": [ { "id": "rs2540964166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2540964166" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIA->NIT).", "chr_id": "12", "chr_pos": "21829005", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1208", "disease": [ { "disease_id": "DOID:0110451", "recommended_name": { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy 1O", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1." }, "synonyms": [ { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy with ventricular tachycardia", "description": "" }, { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy 1O", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "ABCC9 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "familial isolated dilated cardiomyopathy caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, 1O", "description": "" }, { "id": "MIM:608569", "resource": "MIM", "url": "https://www.omim.org/entry/608569", "name": "Cardiomyopathy, dilated, 1O", "description": "Cardiomyopathy, dilated, 1O" } ], "unlinked_id_list": [], "evidence": [ { "id": "608569", "database": "MIM", "url": "https://www.omim.org/entry/608569" }, { "id": "0110451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110451" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "O60706-1.1197.1197", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60706-1.1202.1202", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1257.1257", "start_pos": 1257, "end_pos": 1257, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2540887055", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2540887055", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ASISGSSNSGLVGLGLLYAL", "down_seq": "ITNYLNWVVRNLADLEVQMG", "snv": [ { "evidence": [ { "id": "rs2540887055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2540887055" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TIT->NIT).", "chr_id": "12", "chr_pos": "21818152", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1257", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "O60706-1.1270.1270", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1270.1270", "start_pos": 1270, "end_pos": 1270, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LGLLYALTITNYLNWVVRNL", "down_seq": "DLEVQMGAVKKVNSFLTMES", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "12", "chr_pos": "21817271", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1270", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "O60706-1.1257.1257", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1299.1299", "start_pos": 1299, "end_pos": 1299, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "VKKVNSFLTMESENYEGTMD", "down_seq": "SQVPEHWPQEGEIKIHDLCV", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21815890", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1299", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "O60706-1.1316.1316", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1316.1316", "start_pos": 1316, "end_pos": 1316, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs760679890", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760679890", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "TMDPSQVPEHWPQEGEIKIH", "down_seq": "LCVRYENNLKPVLKHVKAYI", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" }, { "id": "rs760679890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760679890" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DLC->NLC).", "chr_id": "12", "chr_pos": "21815840", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1316", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:0110451", "recommended_name": { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy 1O", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1." }, "synonyms": [ { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy with ventricular tachycardia", "description": "" }, { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy 1O", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "ABCC9 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "familial isolated dilated cardiomyopathy caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, 1O", "description": "" }, { "id": "MIM:608569", "resource": "MIM", "url": "https://www.omim.org/entry/608569", "name": "Cardiomyopathy, dilated, 1O", "description": "Cardiomyopathy, dilated, 1O" } ], "unlinked_id_list": [], "evidence": [ { "id": "608569", "database": "MIM", "url": "https://www.omim.org/entry/608569" }, { "id": "0110451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110451" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O60706-1.1299.1299", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.131.131", "start_pos": 131, "end_pos": 131, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs751708268", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751708268", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751708268", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751708268", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751708268", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751708268", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs751708268", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs751708268", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "GFVATTTSIVYYHNIETSNF", "down_seq": "KLLLALFLYWVMAFITKTIK", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" }, { "id": "rs751708268", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751708268" }, { "id": "rs751708268", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751708268" }, { "id": "rs751708268", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751708268" }, { "id": "rs751708268", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs751708268" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "5", "frequency": "0.2", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NFP->NFS).", "chr_id": "12", "chr_pos": "21925957", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P131", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1347.1347", "start_pos": 1347, "end_pos": 1347, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PVLKHVKAYIKPGQKVGICG", "down_seq": "TGSGKSSLSLAFFRMVDIFD", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21814707", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1347", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "O60706-1.1354.1354", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1354.1354", "start_pos": 1354, "end_pos": 1354, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AYIKPGQKVGICGRTGSGKS", "down_seq": "LSLAFFRMVDIFDGKIVIDG", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21814685", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1354", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "O60706-1.1347.1347", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1376.1376", "start_pos": 1376, "end_pos": 1376, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs780271535", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780271535", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780271535", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780271535", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780271535", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780271535", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SLAFFRMVDIFDGKIVIDGI", "down_seq": "ISKLPLHTLRSRLSIILQDP", "snv": [ { "evidence": [ { "id": "rs780271535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780271535" }, { "id": "rs780271535", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780271535" }, { "id": "rs780271535", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780271535" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "12", "chr_pos": "21812134", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1376", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1440.1440", "start_pos": 1440, "end_pos": 1440, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "EALEIAQLKNMVKSLPGGLD", "down_seq": "VVTEGGENFSVGQRQLFCLA", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "12", "chr_pos": "21807477", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1440", "keywords": [ "biomuta", "somatic", "cancer" ] }, { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21807476", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A1440", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1465.1465", "start_pos": 1465, "end_pos": 1465, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GGENFSVGQRQLFCLARAFV", "down_seq": "KSSILIMDEATASIDMATEN", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21807402", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1465", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "O60706-1.1468.1468", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1546.1546", "start_pos": 1546, "end_pos": 1546, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "ECDTVPNLLAHKNGLFSTLV", "down_seq": "TNK", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21805186", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "M1546", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.166.166", "start_pos": 166, "end_pos": 166, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1948625322", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1948625322", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1948625322", "url": "https://www.ensembl.org/id/rs1948625322", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1948625322", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1948625322", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ITKTIKLVKYCQSGLDISNL", "down_seq": "FCITGMMVILNGLLMAVEIN", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" }, { "id": "rs1948625322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1948625322" }, { "id": "rs1948625322", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1948625322" }, { "id": "rs1948625322", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1948625322" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLR->NLC).", "chr_id": "12", "chr_pos": "21917014", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R166", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:0110451", "recommended_name": { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy 1O", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1." }, "synonyms": [ { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy with ventricular tachycardia", "description": "" }, { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy 1O", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "ABCC9 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "familial isolated dilated cardiomyopathy caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, 1O", "description": "" }, { "id": "MIM:608569", "resource": "MIM", "url": "https://www.omim.org/entry/608569", "name": "Cardiomyopathy, dilated, 1O", "description": "Cardiomyopathy, dilated, 1O" } ], "unlinked_id_list": [], "evidence": [ { "id": "608569", "database": "MIM", "url": "https://www.omim.org/entry/608569" }, { "id": "0110451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110451" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1948625322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1948625322" }, { "id": "rs1948625322", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1948625322" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLR->NLS).", "chr_id": "12", "chr_pos": "21917014", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R166", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.16.16", "start_pos": 16, "end_pos": 16, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs727502877", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs727502877", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs727502877", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs727502877", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs727502877", "url": "https://www.ncbi.nlm.nih.gov/snp/rs727502877#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs727502877", "url": "http://gnomad.broadinstitute.org/awesome?query=rs727502877", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "MSLSFCGNNISSYNI", "down_seq": "DGVLQNSCFVDALNLVPHVF", "snv": [ { "evidence": [ { "id": "rs727502877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs727502877" }, { "id": "rs727502877", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs727502877" }, { "id": "rs727502877", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs727502877#frequency_tab" }, { "id": "rs727502877", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs727502877" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIN->NIS).", "chr_id": "12", "chr_pos": "21936628", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N16", "disease": [ { "disease_id": "DOID:0110451", "recommended_name": { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy 1O", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1." }, "synonyms": [ { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy with ventricular tachycardia", "description": "" }, { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy 1O", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "ABCC9 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "familial isolated dilated cardiomyopathy caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, 1O", "description": "" }, { "id": "MIM:608569", "resource": "MIM", "url": "https://www.omim.org/entry/608569", "name": "Cardiomyopathy, dilated, 1O", "description": "Cardiomyopathy, dilated, 1O" } ], "unlinked_id_list": [], "evidence": [ { "id": "608569", "database": "MIM", "url": "https://www.omim.org/entry/608569" }, { "id": "0110451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110451" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "O60706-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60706-1.9.9", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60706-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60706-1.18.18", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.18.18", "start_pos": 18, "end_pos": 18, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1322335430", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1322335430", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1322335430", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1322335430", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "MSLSFCGNNISSYNIND", "down_seq": "VLQNSCFVDALNLVPHVFLL", "snv": [ { "evidence": [ { "id": "rs1322335430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1322335430" }, { "id": "rs1322335430", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1322335430" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDG->NDS).", "chr_id": "12", "chr_pos": "21936623", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G18", "disease": [ { "disease_id": "DOID:0110451", "recommended_name": { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy 1O", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1." }, "synonyms": [ { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy with ventricular tachycardia", "description": "" }, { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy 1O", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "ABCC9 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "familial isolated dilated cardiomyopathy caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, 1O", "description": "" }, { "id": "MIM:608569", "resource": "MIM", "url": "https://www.omim.org/entry/608569", "name": "Cardiomyopathy, dilated, 1O", "description": "Cardiomyopathy, dilated, 1O" } ], "unlinked_id_list": [], "evidence": [ { "id": "608569", "database": "MIM", "url": "https://www.omim.org/entry/608569" }, { "id": "0110451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110451" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "O60706-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60706-1.9.9", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60706-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60706-1.16.16", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.2.2", "start_pos": 2, "end_pos": 2, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1359649036", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1359649036", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1359649036", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1359649036#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1359649036", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1359649036", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "M", "down_seq": "LSFCGNNISSYNINDGVLQN", "snv": [ { "evidence": [ { "id": "rs1359649036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1359649036" }, { "id": "rs1359649036", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1359649036#frequency_tab" }, { "id": "rs1359649036", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1359649036" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "12", "chr_pos": "21936670", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2", "disease": [ { "disease_id": "DOID:0050650", "recommended_name": { "id": "DOID:0050650", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050650", "name": "familial atrial fibrillation", "description": "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes." }, "synonyms": [ { "id": "DOID:0050650", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050650", "name": "ATFB", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "atrial fibrillation, familial, 3", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene." }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "KCNQ1 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "atrial fibrillation, familial, 3", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "atrial fibrillation, familial, type 3", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "familial atrial fibrillation caused by mutation in KCNQ1", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "ATFB3", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, familial, 1", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, autosomal dominant", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "ATFB1", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, familial, 1", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "atrial fibrillation, familial, 2", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "ATFB2", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "atrial fibrillation, familial, 2", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, 4", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene." }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "KCNE2 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, 4", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, type 4", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "familial atrial fibrillation caused by mutation in KCNE2", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "ATFB4", "description": "" }, { "id": "MONDO:0012678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012678", "name": "atrial fibrillation, familial, 5", "description": "" }, { "id": "MONDO:0012678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012678", "name": "ATFB5", "description": "" }, { "id": "MONDO:0012678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012678", "name": "atrial fibrillation, familial, 5", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "atrial fibrillation, familial, 6", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene." }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "NPPA familial atrial fibrillation", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "atrial fibrillation, familial, 6", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "atrial fibrillation, familial, type 6", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "familial atrial fibrillation caused by mutation in NPPA", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "ATFB6", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "atrial fibrillation, familial, 7", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene." }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "KCNA5 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "atrial fibrillation, familial, 7", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "atrial fibrillation, familial, type 7", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "familial atrial fibrillation caused by mutation in KCNA5", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "ATFB7", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "atrial fibrillation, familial, 8", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "ATFB8", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "atrial fibrillation, familial, 8", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "atrial fibrillation, familial, 9", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene." }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "KCNJ2 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "atrial fibrillation, familial, 9", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "atrial fibrillation, familial, type 9", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "familial atrial fibrillation caused by mutation in KCNJ2", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "ATFB9", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, 10", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene." }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "SCN5A familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, 10", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, type 10", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "familial atrial fibrillation caused by mutation in SCN5A", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "ATFB10", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "atrial fibrillation, familial, 11", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene." }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "GJA5 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "atrial fibrillation, familial, 11", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "atrial fibrillation, familial, type 11", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "familial atrial fibrillation caused by mutation in GJA5", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "ATFB11", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "atrial fibrillation, familial, 12", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "ABCC9 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "atrial fibrillation, familial, 12", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "atrial fibrillation, familial, type 12", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "familial atrial fibrillation caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "ATFB12", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "atrial fibrillation, familial, 13", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene." }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "SCN1B familial atrial fibrillation", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "atrial fibrillation, familial, 13", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "atrial fibrillation, familial, type 13", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "familial atrial fibrillation caused by mutation in SCN1B", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "ATFB13", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "atrial fibrillation, familial, 14", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene." }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "SCN2B familial atrial fibrillation", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "atrial fibrillation, familial, 14", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "atrial fibrillation, familial, type 14", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "familial atrial fibrillation caused by mutation in SCN2B", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "ATFB14", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation, familial, 15", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene." }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "NUP155 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation 15", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation, familial, 15", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation, familial, type 15", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "familial atrial fibrillation caused by mutation in NUP155", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "ATFB15", "description": "" }, { "id": "MIM:607554", "resource": "MIM", "url": "https://www.omim.org/entry/607554", "name": "Atrial fibrillation, familial, 3", "description": "Atrial fibrillation, familial, 3" }, { "id": "MIM:611493", "resource": "MIM", "url": "https://www.omim.org/entry/611493", "name": "Atrial fibrillation, familial, 4", "description": "Atrial fibrillation, familial, 4" }, { "id": "MIM:612201", "resource": "MIM", "url": "https://www.omim.org/entry/612201", "name": "Atrial fibrillation, familial, 6", "description": "Atrial fibrillation, familial, 6" }, { "id": "MIM:612240", "resource": "MIM", "url": "https://www.omim.org/entry/612240", "name": "Atrial fibrillation, familial, 7", "description": "Atrial fibrillation, familial, 7" }, { "id": "MIM:613055", "resource": "MIM", "url": "https://www.omim.org/entry/613055", "name": "Atrial fibrillation, familial, 8", "description": "Atrial fibrillation, familial, 8" }, { "id": "MIM:613980", "resource": "MIM", "url": "https://www.omim.org/entry/613980", "name": "Atrial fibrillation, familial, 9", "description": "Atrial fibrillation, familial, 9" }, { "id": "MIM:614022", "resource": "MIM", "url": "https://www.omim.org/entry/614022", "name": "Atrial fibrillation, familial, 10", "description": "Atrial fibrillation, familial, 10" }, { "id": "MIM:614049", "resource": "MIM", "url": "https://www.omim.org/entry/614049", "name": "Atrial fibrillation, familial, 11", "description": "Atrial fibrillation, familial, 11" }, { "id": "MIM:614050", "resource": "MIM", "url": "https://www.omim.org/entry/614050", "name": "Atrial fibrillation, familial, 12", "description": "Atrial fibrillation, familial, 12" }, { "id": "MIM:615377", "resource": "MIM", "url": "https://www.omim.org/entry/615377", "name": "Atrial fibrillation, familial, 13", "description": "Atrial fibrillation, familial, 13" }, { "id": "MIM:615378", "resource": "MIM", "url": "https://www.omim.org/entry/615378", "name": "Atrial fibrillation, familial, 14", "description": "Atrial fibrillation, familial, 14" }, { "id": "MIM:615770", "resource": "MIM", "url": "https://www.omim.org/entry/615770", "name": "Atrial fibrillation, familial, 15", "description": "Atrial fibrillation, familial, 15" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" }, { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "disease_id": "DOID:0110451", "recommended_name": { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy 1O", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1." }, "synonyms": [ { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy with ventricular tachycardia", "description": "" }, { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy 1O", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "ABCC9 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "familial isolated dilated cardiomyopathy caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, 1O", "description": "" }, { "id": "MIM:608569", "resource": "MIM", "url": "https://www.omim.org/entry/608569", "name": "Cardiomyopathy, dilated, 1O", "description": "Cardiomyopathy, dilated, 1O" } ], "unlinked_id_list": [], "evidence": [ { "id": "608569", "database": "MIM", "url": "https://www.omim.org/entry/608569" }, { "id": "0110451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110451" } ] }, { "disease_id": "DOID:0060569", "recommended_name": { "id": "DOID:0060569", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060569", "name": "hypertrichotic osteochondrodysplasia Cantu type", "description": "An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly." }, "synonyms": [ { "id": "DOID:0060569", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060569", "name": "Cantu syndrome", "description": "" }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "hypertrichotic osteochondrodysplasia Cantu type", "description": "Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "Cantu syndrome", "description": "" }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "hypertrichotic osteochondrodysplasia (Cantu syndrome)", "description": "" }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "Craniofaciocardioskeletal syndrome", "description": "" }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "hypertrichotic osteochondrodysplasia", "description": "" }, { "id": "MIM:239850", "resource": "MIM", "url": "https://www.omim.org/entry/239850", "name": "Hypertrichotic osteochondrodysplasia", "description": "Hypertrichotic osteochondrodysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060569", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060569" }, { "id": "0060569", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060569" }, { "id": "0060569", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060569" } ] }, { "disease_id": "DOID:0070600", "recommended_name": { "id": "DOID:0070600", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070600", "name": "intellectual disability and myopathy syndrome", "description": "A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the ABCC9 gene on chromosome 12p12." }, "synonyms": [ { "id": "DOID:0070600", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070600", "name": "ABCC9-related intellectual disability and myopathy", "description": "" }, { "id": "DOID:0070600", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070600", "name": "AIMS", "description": "" }, { "id": "DOID:0070600", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070600", "name": "IDMYS", "description": "" }, { "id": "MONDO:0859224", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859224", "name": "intellectual disability and myopathy syndrome", "description": "" }, { "id": "MIM:619719", "resource": "MIM", "url": "https://www.omim.org/entry/619719", "name": "Intellectual disability and myopathy syndrome", "description": "Intellectual disability and myopathy syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "619719", "database": "MIM", "url": "https://www.omim.org/entry/619719" }, { "id": "0070600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070600" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "O60706-1.9.9", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60706-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60706-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60706-1.18.18", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.304.304", "start_pos": 304, "end_pos": 304, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SIWLAMYRAFGRPILLSSTF", "down_seq": "YLADLLGFAGPLCISGIVQR", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21912972", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R304", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "O60706-1.324.324", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.324.324", "start_pos": 324, "end_pos": 324, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RYLADLLGFAGPLCISGIVQ", "down_seq": "VNETQNGTNNTTGISETLSS", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21912912", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R324", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60706-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60706-1.326.326", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60706-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60706-1.330.330", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60706-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60706-1.333.333", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60706-1.334.334", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60706-1.336.336", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.328.328", "start_pos": 328, "end_pos": 328, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1477103969", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1477103969", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1477103969", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1477103969", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DLLGFAGPLCISGIVQRVNE", "down_seq": "QNGTNNTTGISETLSSKEFL", "snv": [ { "evidence": [ { "id": "rs1477103969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1477103969" }, { "id": "rs1477103969", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1477103969" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NET->NEN).", "chr_id": "12", "chr_pos": "21912900", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T328", "disease": [ { "disease_id": "DOID:0110451", "recommended_name": { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy 1O", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1." }, "synonyms": [ { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy with ventricular tachycardia", "description": "" }, { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy 1O", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "ABCC9 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "familial isolated dilated cardiomyopathy caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, 1O", "description": "" }, { "id": "MIM:608569", "resource": "MIM", "url": "https://www.omim.org/entry/608569", "name": "Cardiomyopathy, dilated, 1O", "description": "Cardiomyopathy, dilated, 1O" } ], "unlinked_id_list": [], "evidence": [ { "id": "608569", "database": "MIM", "url": "https://www.omim.org/entry/608569" }, { "id": "0110451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110451" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "O60706-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60706-1.326.326", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60706-1.330.330", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60706-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60706-1.333.333", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60706-1.334.334", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60706-1.336.336", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.332.332", "start_pos": 332, "end_pos": 332, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1262059763", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262059763", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1262059763", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1262059763", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1262059763", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1262059763", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "FAGPLCISGIVQRVNETQNG", "down_seq": "NNTTGISETLSSKEFLENAY", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NGT->NGA).", "chr_id": "12", "chr_pos": "21912889", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T332", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1262059763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262059763" }, { "id": "rs1262059763", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1262059763" }, { "id": "rs1262059763", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1262059763" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NGT->NGK).", "chr_id": "12", "chr_pos": "21912888", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T332", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "O60706-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60706-1.326.326", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60706-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60706-1.330.330", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60706-1.333.333", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60706-1.334.334", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60706-1.336.336", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.336.336", "start_pos": 336, "end_pos": 336, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2541698968", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2541698968", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LCISGIVQRVNETQNGTNNT", "down_seq": "GISETLSSKEFLENAYVLAV", "snv": [ { "evidence": [ { "id": "rs2541698968", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2541698968" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTT->NTA).", "chr_id": "12", "chr_pos": "21912877", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T336", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "O60706-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60706-1.326.326", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60706-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60706-1.330.330", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60706-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60706-1.333.333", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60706-1.334.334", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.384.384", "start_pos": 384, "end_pos": 384, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs749318820", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749318820", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749318820", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749318820", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs749318820", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749318820", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs749318820", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs749318820", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LQRTFLQASYYVTIETGINL", "down_seq": "GALLAMIYNKILRLSTSNLS", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" }, { "id": "rs749318820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749318820" }, { "id": "rs749318820", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749318820" }, { "id": "rs749318820", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749318820" }, { "id": "rs749318820", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs749318820" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLR->NLC).", "chr_id": "12", "chr_pos": "21910840", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R384", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:0110451", "recommended_name": { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy 1O", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1." }, "synonyms": [ { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy with ventricular tachycardia", "description": "" }, { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy 1O", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "ABCC9 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "familial isolated dilated cardiomyopathy caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, 1O", "description": "" }, { "id": "MIM:608569", "resource": "MIM", "url": "https://www.omim.org/entry/608569", "name": "Cardiomyopathy, dilated, 1O", "description": "Cardiomyopathy, dilated, 1O" } ], "unlinked_id_list": [], "evidence": [ { "id": "608569", "database": "MIM", "url": "https://www.omim.org/entry/608569" }, { "id": "0110451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110451" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs749318820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749318820" }, { "id": "rs749318820", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749318820" }, { "id": "rs749318820", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749318820" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLR->NLS).", "chr_id": "12", "chr_pos": "21910840", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R384", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.416.416", "start_pos": 416, "end_pos": 416, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1948252880", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1948252880", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1948252880", "url": "https://www.ensembl.org/id/rs1948252880", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "LRLSTSNLSMGEMTLGQINN", "down_seq": "VAIETNQLMWFLFLCPNLWA", "snv": [ { "evidence": [ { "id": "rs1948252880", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1948252880" }, { "id": "rs1948252880", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1948252880" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNL->NNS).", "chr_id": "12", "chr_pos": "21910230", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L416", "disease": [ { "disease_id": "DOID:0060569", "recommended_name": { "id": "DOID:0060569", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060569", "name": "hypertrichotic osteochondrodysplasia Cantu type", "description": "An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly." }, "synonyms": [ { "id": "DOID:0060569", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060569", "name": "Cantu syndrome", "description": "" }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "hypertrichotic osteochondrodysplasia Cantu type", "description": "Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "Cantu syndrome", "description": "" }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "hypertrichotic osteochondrodysplasia (Cantu syndrome)", "description": "" }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "Craniofaciocardioskeletal syndrome", "description": "" }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "hypertrichotic osteochondrodysplasia", "description": "" }, { "id": "MIM:239850", "resource": "MIM", "url": "https://www.omim.org/entry/239850", "name": "Hypertrichotic osteochondrodysplasia", "description": "Hypertrichotic osteochondrodysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060569", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060569" }, { "id": "0060569", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060569" }, { "id": "0060569", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060569" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "O60706-1.418.418", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.418.418", "start_pos": 418, "end_pos": 418, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LSTSNLSMGEMTLGQINNLV", "down_seq": "IETNQLMWFLFLCPNLWAMP", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21910225", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A418", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "O60706-1.416.416", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.451.451", "start_pos": 451, "end_pos": 451, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "CPNLWAMPVQIIMGVILLYN", "down_seq": "LGSSALVGAAVIVLLAPIQY", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21908181", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L451", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "O60706-1.467.467", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.467.467", "start_pos": 467, "end_pos": 467, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LLYNLLGSSALVGAAVIVLL", "down_seq": "PIQYFIATKLAEAQKSTLDY", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21908132", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A467", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "O60706-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60706-1.486.486", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.486.486", "start_pos": 486, "end_pos": 486, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LAPIQYFIATKLAEAQKSTL", "down_seq": "YSTERLKKTNEILKGIKLLK", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DYS->NYS).", "chr_id": "12", "chr_pos": "21906288", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D486", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60706-1.467.467", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60706-1.493.493", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60706-1.495.495", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.493.493", "start_pos": 493, "end_pos": 493, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "IATKLAEAQKSTLDYSTERL", "down_seq": "KTNEILKGIKLLKLYAWEHI", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KKT->NKT).", "chr_id": "12", "chr_pos": "21906265", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K493", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "O60706-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60706-1.495.495", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.51.51", "start_pos": 51, "end_pos": 51, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1342458654", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1342458654", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1342458654", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1342458654", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LVPHVFLLFITFPILFIGWG", "down_seq": "QSSKVQIHHNTWLHFPGHNL", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" }, { "id": "rs1342458654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1342458654" }, { "id": "rs1342458654", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1342458654" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SQS->NQS).", "chr_id": "12", "chr_pos": "21933914", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S51", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "O60706-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60706-1.63.63", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.545.545", "start_pos": 545, "end_pos": 545, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ELSSLKTFALYTSLSIFMNA", "down_seq": "IPIAAVLATFVTHAYASGNN", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NAA->NAS).", "chr_id": "12", "chr_pos": "21895301", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A545", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "O60706-1.535.535", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60706-1.537.537", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60706-1.539.539", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60706-1.559.559", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.559.559", "start_pos": 559, "end_pos": 559, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SIFMNAAIPIAAVLATFVTH", "down_seq": "YASGNNLKPAEAFASLSLFH", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "12", "chr_pos": "21894158", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A559", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60706-1.539.539", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "O60706-1.545.545", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.608.608", "start_pos": 608, "end_pos": 608, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1213441747", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213441747", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1213441747", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213441747", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "LSTVVRFAVKAIISVQKLNE", "down_seq": "LLSDEIGDDSWRTGESSLPF", "snv": [ { "evidence": [ { "id": "rs1213441747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213441747" }, { "id": "rs1213441747", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213441747" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEF->NEC).", "chr_id": "12", "chr_pos": "21887914", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F608", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "O60706-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60706-1.625.625", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.60.60", "start_pos": 60, "end_pos": 60, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "ITFPILFIGWGSQSSKVQIH", "down_seq": "NTWLHFPGHNLRWILTFALL", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HNT->NNT).", "chr_id": "12", "chr_pos": "21933888", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H60", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "O60706-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60706-1.63.63", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.616.616", "start_pos": 616, "end_pos": 616, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs977101695", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs977101695", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs977101695", "url": "https://www.ncbi.nlm.nih.gov/snp/rs977101695#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs977101695", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs977101695", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VKAIISVQKLNEFLLSDEIG", "down_seq": "DSWRTGESSLPFESCKKHTG", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" }, { "id": "rs977101695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs977101695" }, { "id": "rs977101695", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs977101695#frequency_tab" }, { "id": "rs977101695", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs977101695" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "12", "chr_pos": "21887891", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D616", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "O60706-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60706-1.625.625", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60706-1.635.635", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.625.625", "start_pos": 625, "end_pos": 625, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LNEFLLSDEIGDDSWRTGES", "down_seq": "LPFESCKKHTGVQPKTINRK", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21887863", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S625", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O60706-1.608.608", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "O60706-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60706-1.635.635", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.63.63", "start_pos": 63, "end_pos": 63, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "PILFIGWGSQSSKVQIHHNT", "down_seq": "LHFPGHNLRWILTFALLFVH", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "W", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NTW->NTC).", "chr_id": "12", "chr_pos": "21933877", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "W63", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "O60706-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60706-1.60.60", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.665.665", "start_pos": 665, "end_pos": 665, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "KQPGRYHLDSYEQSTRRLRP", "down_seq": "ETEDIAIKVTNGYFSWGSGL", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21882792", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A665", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "O60706-1.673.673", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60706-1.678.678", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.673.673", "start_pos": 673, "end_pos": 673, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "DSYEQSTRRLRPAETEDIAI", "down_seq": "VTNGYFSWGSGLATLSNIDI", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KVT->NVT).", "chr_id": "12", "chr_pos": "21882766", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K673", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "O60706-1.665.665", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60706-1.678.678", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.678.678", "start_pos": 678, "end_pos": 678, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1437551187", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1437551187", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1437551187", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1437551187#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "STRRLRPAETEDIAIKVTNG", "down_seq": "FSWGSGLATLSNIDIRIPTG", "snv": [ { "evidence": [ { "id": "rs1437551187", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1437551187" }, { "id": "rs1437551187", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1437551187#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGY->NGC).", "chr_id": "12", "chr_pos": "21875713", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y678", "disease": [ { "disease_id": "DOID:0110451", "recommended_name": { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy 1O", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1." }, "synonyms": [ { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy with ventricular tachycardia", "description": "" }, { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy 1O", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "ABCC9 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "familial isolated dilated cardiomyopathy caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, 1O", "description": "" }, { "id": "MIM:608569", "resource": "MIM", "url": "https://www.omim.org/entry/608569", "name": "Cardiomyopathy, dilated, 1O", "description": "Cardiomyopathy, dilated, 1O" } ], "unlinked_id_list": [], "evidence": [ { "id": "608569", "database": "MIM", "url": "https://www.omim.org/entry/608569" }, { "id": "0110451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110451" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "O60706-1.665.665", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60706-1.673.673", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60706-1.694.694", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.694.694", "start_pos": 694, "end_pos": 694, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VTNGYFSWGSGLATLSNIDI", "down_seq": "IPTGQLTMIVGQVGCGKSSL", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "12", "chr_pos": "21875665", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R694", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "O60706-1.678.678", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.735.735", "start_pos": 735, "end_pos": 735, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1437397303", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1437397303", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1437397303", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1437397303", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LLAILGEMQTLEGKVHWSNV", "down_seq": "ESEPSFEATRSRNRYSVAYA", "snv": [ { "evidence": [ { "id": "rs1437397303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1437397303" }, { "id": "rs1437397303", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1437397303" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "12", "chr_pos": "21864472", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N735", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "O60706-1.744.744", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.744.744", "start_pos": 744, "end_pos": 744, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1945683126", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1945683126", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1945683126", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1945683126#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TLEGKVHWSNVNESEPSFEA", "down_seq": "RSRNRYSVAYAAQKPWLLNA", "snv": [ { "evidence": [ { "id": "rs1945683126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1945683126" }, { "id": "rs1945683126", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1945683126#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TRS->NRS).", "chr_id": "12", "chr_pos": "21864445", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T744", "disease": [ { "disease_id": "DOID:0110451", "recommended_name": { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy 1O", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1." }, "synonyms": [ { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "dilated cardiomyopathy with ventricular tachycardia", "description": "" }, { "id": "DOID:0110451", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110451", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy 1O", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "ABCC9 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "CMD1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "dilated cardiomyopathy type 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "familial isolated dilated cardiomyopathy caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, 1O", "description": "" }, { "id": "MIM:608569", "resource": "MIM", "url": "https://www.omim.org/entry/608569", "name": "Cardiomyopathy, dilated, 1O", "description": "Cardiomyopathy, dilated, 1O" } ], "unlinked_id_list": [], "evidence": [ { "id": "608569", "database": "MIM", "url": "https://www.omim.org/entry/608569" }, { "id": "0110451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110451" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "O60706-1.735.735", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.801.801", "start_pos": 801, "end_pos": 801, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2137505118", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2137505118", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2137505118", "url": "https://www.ensembl.org/id/rs2137505118", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "YKAVTDACSLQPDIDLLPFG", "down_seq": "QTEIGERGINLSGGQRQRIC", "snv": [ { "evidence": [ { "id": "rs2137505118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2137505118" }, { "id": "rs2137505118", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2137505118" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DQT->NQT).", "chr_id": "12", "chr_pos": "21860994", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D801", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.824.824", "start_pos": 824, "end_pos": 824, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EIGERGINLSGGQRQRICVA", "down_seq": "ALYQNTNIVFLDDPFSALDI", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "12", "chr_pos": "21859621", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R824", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "O60706-1.825.825", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60706-1.831.831", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.825.825", "start_pos": 825, "end_pos": 825, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "IGERGINLSGGQRQRICVAR", "down_seq": "LYQNTNIVFLDDPFSALDIH", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "12", "chr_pos": "21859617", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A825", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "O60706-1.824.824", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60706-1.831.831", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.831.831", "start_pos": 831, "end_pos": 831, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1411025632", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1411025632", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1411025632", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1411025632#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "NLSGGQRQRICVARALYQNT", "down_seq": "IVFLDDPFSALDIHLSDHLM", "snv": [ { "evidence": [ { "id": "rs1411025632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1411025632" }, { "id": "rs1411025632", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1411025632#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTN->NTS).", "chr_id": "12", "chr_pos": "21859599", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N831", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "O60706-1.824.824", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60706-1.825.825", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60706-1.849.849", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.849.849", "start_pos": 849, "end_pos": 849, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "NTNIVFLDDPFSALDIHLSD", "down_seq": "LMQEGILKFLQDDKRTLVLV", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21852466", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H849", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60706-1.831.831", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.877.877", "start_pos": 877, "end_pos": 877, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KFLQDDKRTLVLVTHKLQYL", "down_seq": "HADWIIAMKDGSVLREGTLK", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21852381", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T877", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.916.916", "start_pos": 916, "end_pos": 916, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LKDIQTKDVELYEHWKTLMN", "down_seq": "QDQELEKDMEADQTTLERKT", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21852119", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R916", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21852120", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R916", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "O60706-1.928.928", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.928.928", "start_pos": 928, "end_pos": 928, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs767203577", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767203577", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767203577", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767203577", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767203577", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767203577", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "EHWKTLMNRQDQELEKDMEA", "down_seq": "QTTLERKTLRRAMYSREAKA", "snv": [ { "evidence": [ { "id": "rs767203577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767203577" }, { "id": "rs767203577", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767203577" }, { "id": "rs767203577", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767203577" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DQT->NQT).", "chr_id": "12", "chr_pos": "21848234", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D928", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "O60706-1.916.916", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.953.953", "start_pos": 953, "end_pos": 953, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "ERKTLRRAMYSREAKAQMED", "down_seq": "DEEEEEEEDEDDNMSTVMRL", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "12", "chr_pos": "21848159", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E953", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.96.96", "start_pos": 96, "end_pos": 96, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TFALLFVHVCEIAEGIVSDS", "down_seq": "RESRHLHLFMPAVMGFVATT", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21926062", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R96", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "O60706-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60706-1.109.109", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.97.97", "start_pos": 97, "end_pos": 97, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FALLFVHVCEIAEGIVSDSR", "down_seq": "ESRHLHLFMPAVMGFVATTT", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "12", "chr_pos": "21926059", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R97", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "O60706-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "O60706-1.109.109", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.984.984", "start_pos": 984, "end_pos": 984, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60706", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DDNMSTVMRLRTKMPWKTCW", "down_seq": "YLTSGGFFLLILMIFSKLLK", "snv": [ { "evidence": [ { "id": "O60706", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60706" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "21845748", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R984", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60706-1.1468.1468", "start_pos": 1468, "end_pos": 1468, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Multisite phosphorylation mechanism for protein kinase A activation of the smooth muscle ATP-sensitive K+ channel.", "journal": "Circulation research", "date": "2004", "authors": "Quinn KV, Giblin JP, Tinker A", "evidence": [ { "database": "iPTMnet", "id": "O60706", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60706" } ], "reference": [ { "type": "PubMed", "id": "15087422", "url": "https://glygen.org/publication/PubMed/15087422" } ] } ], "crossref": [ { "id": "O60706", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60706", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15087422", "url": "https://glygen.org/publication/PubMed/15087422", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NFSVGQRQLFCLARAFVRKS", "down_seq": "ILIMDEATASIDMATENILQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60706", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60706" }, { "database": "PubMed", "id": "15087422", "url": "https://glygen.org/publication/PubMed/15087422" } ], "site_lbl": "Ser1468" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "O60706-1.1465.1465", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60706-1.635.635", "start_pos": 635, "end_pos": 635, "uniprot_canonical_ac": "O60706-1", "length": 1549, "uniprot_id": "ABCC9_HUMAN", "protein_name": "ATP-binding cassette sub-family C member 9", "refseq_ac": "NP_005682", "refseq_name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "gene_name": "ABCC9", "gene_names_uniprotkb": "ABCC9; SUR2", "gene_names_refseq": "ABC37; ABCC9; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprotkb/O60706" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Multisite phosphorylation mechanism for protein kinase A activation of the smooth muscle ATP-sensitive K+ channel.", "journal": "Circulation research", "date": "2004", "authors": "Quinn KV, Giblin JP, Tinker A", "evidence": [ { "database": "iPTMnet", "id": "O60706", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60706" } ], "reference": [ { "type": "PubMed", "id": "15087422", "url": "https://glygen.org/publication/PubMed/15087422" } ] } ], "crossref": [ { "id": "O60706", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60706", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15087422", "url": "https://glygen.org/publication/PubMed/15087422", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GDDSWRTGESSLPFESCKKH", "down_seq": "GVQPKTINRKQPGRYHLDSY", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60706", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60706" }, { "database": "PubMed", "id": "15087422", "url": "https://glygen.org/publication/PubMed/15087422" } ], "site_lbl": "Thr635" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "326", "end_pos": "326" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1006", "end_pos": "1006" }, { "start_pos": "1031", "end_pos": "1031" }, { "start_pos": "1076", "end_pos": "1076" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1154", "end_pos": "1154" }, { "start_pos": "1164", "end_pos": "1164" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1202", "end_pos": "1202" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1270", "end_pos": "1270" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1316", "end_pos": "1316" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1354", "end_pos": "1354" }, { "start_pos": "1376", "end_pos": "1376" }, { "start_pos": "1440", "end_pos": "1440" }, { "start_pos": "1465", "end_pos": "1465" }, { "start_pos": "1546", "end_pos": "1546" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "665", "end_pos": "665" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "678", "end_pos": "678" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "801", "end_pos": "801" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "825", "end_pos": "825" }, { "start_pos": "831", "end_pos": "831" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "928", "end_pos": "928" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "984", "end_pos": "984" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1468", "end_pos": "1468" }, { "start_pos": "635", "end_pos": "635" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60706-1.616.616", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "O60706-1.625.625", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NHY2-1.350.350", "start_pos": 350, "end_pos": 350, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "rs1680039106", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1680039106", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1680039106", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1680039106", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "EYSQPPGFSGSSQTKKQPWY", "down_seq": "STLASRRKRLTAHFEDLEQC", "glycosylation": [ { "glytoucan_ac": "G70232NH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QPWYNSTLASR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn350", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "snv": [ { "evidence": [ { "id": "rs1680039106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1680039106" }, { "id": "rs1680039106", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1680039106" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NST->YST).", "chr_id": "1", "chr_pos": "176085869", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N350", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q8NHY2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8NHY2-1.357.357", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NHY2-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8NHY2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NHY2" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8NHY2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NHY2" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] } ], "crossref": [ { "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8NHY2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NHY2", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "Q8NHY2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NHY2" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NHY2-1.111.113", "start_pos": 111, "end_pos": 113, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Characterization of human constitutive photomorphogenesis protein 1, a RING finger ubiquitin ligase that interacts with Jun transcription factors and modulates their transcriptional activity.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Bianchi E, Denti S, Catena R, Rossetti G, Polo S, Gasparian S, Putignano S, Rogge L, Pardi R", "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "reference": [ { "type": "PubMed", "id": "12615916", "url": "https://glygen.org/publication/PubMed/12615916" } ] } ], "crossref": [ { "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12615916", "url": "https://glygen.org/publication/PubMed/12615916", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "RKR", "start_aa": "R", "up_seq": "CAARPSAGVGGSSSSLGSGS", "down_seq": "PLLAPLCNGLINSYEDKSND", "mutagenesis": [ { "sequence_org": "RKR", "sequence_mut": "AKA", "comment": "Abolishes localization to the nucleus.", "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" }, { "database": "PubMed", "id": "12615916", "url": "https://glygen.org/publication/PubMed/12615916" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8NHY2-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8NHY2-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8NHY2-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8NHY2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8NHY2-1.129.129", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NHY2-1.136.136", "start_pos": 136, "end_pos": 136, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "COP9 signalosome subunit 6 stabilizes COP1, which functions as an E3 ubiquitin ligase for 14-3-3sigma.", "journal": "Oncogene", "date": "2011", "authors": "Choi HH, Gully C, Su CH, Velazquez-Torres G, Chou PC, Tseng C, Zhao R, Phan L, Shaiken T, Chen J, Yeung SC, Lee MH", "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "reference": [ { "type": "PubMed", "id": "21625211", "url": "https://glygen.org/publication/PubMed/21625211" } ] }, { "title": "E3 ubiquitin ligase COP1 regulates the stability and functions of MTA1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Li DQ, Ohshiro K, Reddy SD, Pakala SB, Lee MH, Zhang Y, Rayala SK, Kumar R", "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "reference": [ { "type": "PubMed", "id": "19805145", "url": "https://glygen.org/publication/PubMed/19805145" } ] }, { "title": "Human De-etiolated-1 regulates c-Jun by assembling a CUL4A ubiquitin ligase.", "journal": "Science (New York, N.Y.)", "date": "2004", "authors": "Wertz IE, O'Rourke KM, Zhang Z, Dornan D, Arnott D, Deshaies RJ, Dixit VM", "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" }, { "database": "RefSeq", "id": "NP_001001740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001740" } ], "reference": [ { "type": "PubMed", "id": "14739464", "url": "https://glygen.org/publication/PubMed/14739464" } ] }, { "title": "Characterization of human constitutive photomorphogenesis protein 1, a RING finger ubiquitin ligase that interacts with Jun transcription factors and modulates their transcriptional activity.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Bianchi E, Denti S, Catena R, Rossetti G, Polo S, Gasparian S, Putignano S, Rogge L, Pardi R", "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "reference": [ { "type": "PubMed", "id": "12615916", "url": "https://glygen.org/publication/PubMed/12615916" } ] } ], "crossref": [ { "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21625211", "url": "https://glygen.org/publication/PubMed/21625211", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19805145", "url": "https://glygen.org/publication/PubMed/19805145", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14739464", "url": "https://glygen.org/publication/PubMed/14739464", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12615916", "url": "https://glygen.org/publication/PubMed/12615916", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "LAPLCNGLINSYEDKSNDFV", "down_seq": "PICFDMIEEAYMTKCGHSFC", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes p53 ubiquitination and degradation but not that of JUN; when associated with A-139.", "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" }, { "database": "PubMed", "id": "21625211", "url": "https://glygen.org/publication/PubMed/21625211" }, { "database": "PubMed", "id": "19805145", "url": "https://glygen.org/publication/PubMed/19805145" }, { "database": "PubMed", "id": "14739464", "url": "https://glygen.org/publication/PubMed/14739464" }, { "database": "PubMed", "id": "12615916", "url": "https://glygen.org/publication/PubMed/12615916" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of SFN and MTA1 ubiquitination and degradation; when associated with S-139. Loss of stabilization by COPS6; when associated with S-139.", "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" }, { "database": "PubMed", "id": "21625211", "url": "https://glygen.org/publication/PubMed/21625211" }, { "database": "PubMed", "id": "19805145", "url": "https://glygen.org/publication/PubMed/19805145" }, { "database": "PubMed", "id": "14739464", "url": "https://glygen.org/publication/PubMed/14739464" }, { "database": "PubMed", "id": "12615916", "url": "https://glygen.org/publication/PubMed/12615916" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8NHY2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q8NHY2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8NHY2-1.139.139", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8NHY2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8NHY2-1.156.156", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NHY2-1.139.139", "start_pos": 139, "end_pos": 139, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "COP9 signalosome subunit 6 stabilizes COP1, which functions as an E3 ubiquitin ligase for 14-3-3sigma.", "journal": "Oncogene", "date": "2011", "authors": "Choi HH, Gully C, Su CH, Velazquez-Torres G, Chou PC, Tseng C, Zhao R, Phan L, Shaiken T, Chen J, Yeung SC, Lee MH", "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "reference": [ { "type": "PubMed", "id": "21625211", "url": "https://glygen.org/publication/PubMed/21625211" } ] }, { "title": "E3 ubiquitin ligase COP1 regulates the stability and functions of MTA1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Li DQ, Ohshiro K, Reddy SD, Pakala SB, Lee MH, Zhang Y, Rayala SK, Kumar R", "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "reference": [ { "type": "PubMed", "id": "19805145", "url": "https://glygen.org/publication/PubMed/19805145" } ] }, { "title": "Human De-etiolated-1 regulates c-Jun by assembling a CUL4A ubiquitin ligase.", "journal": "Science (New York, N.Y.)", "date": "2004", "authors": "Wertz IE, O'Rourke KM, Zhang Z, Dornan D, Arnott D, Deshaies RJ, Dixit VM", "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" }, { "database": "RefSeq", "id": "NP_001001740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001740" } ], "reference": [ { "type": "PubMed", "id": "14739464", "url": "https://glygen.org/publication/PubMed/14739464" } ] }, { "title": "Characterization of human constitutive photomorphogenesis protein 1, a RING finger ubiquitin ligase that interacts with Jun transcription factors and modulates their transcriptional activity.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Bianchi E, Denti S, Catena R, Rossetti G, Polo S, Gasparian S, Putignano S, Rogge L, Pardi R", "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "reference": [ { "type": "PubMed", "id": "12615916", "url": "https://glygen.org/publication/PubMed/12615916" } ] } ], "crossref": [ { "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21625211", "url": "https://glygen.org/publication/PubMed/21625211", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19805145", "url": "https://glygen.org/publication/PubMed/19805145", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14739464", "url": "https://glygen.org/publication/PubMed/14739464", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12615916", "url": "https://glygen.org/publication/PubMed/12615916", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "LCNGLINSYEDKSNDFVCPI", "down_seq": "FDMIEEAYMTKCGHSFCYKC", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes p53 ubiquitination and degradation but not that of JUN; when associated with A-136.", "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" }, { "database": "PubMed", "id": "21625211", "url": "https://glygen.org/publication/PubMed/21625211" }, { "database": "PubMed", "id": "19805145", "url": "https://glygen.org/publication/PubMed/19805145" }, { "database": "PubMed", "id": "14739464", "url": "https://glygen.org/publication/PubMed/14739464" }, { "database": "PubMed", "id": "12615916", "url": "https://glygen.org/publication/PubMed/12615916" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of SFN and MTA1 ubiquitination and degradation; when associated with S-136. Loss of stabilization by COPS6; when associated with S-136.", "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" }, { "database": "PubMed", "id": "21625211", "url": "https://glygen.org/publication/PubMed/21625211" }, { "database": "PubMed", "id": "19805145", "url": "https://glygen.org/publication/PubMed/19805145" }, { "database": "PubMed", "id": "14739464", "url": "https://glygen.org/publication/PubMed/14739464" }, { "database": "PubMed", "id": "12615916", "url": "https://glygen.org/publication/PubMed/12615916" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q8NHY2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8NHY2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8NHY2-1.136.136", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8NHY2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8NHY2-1.156.156", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8NHY2-1.159.159", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NHY2-1.156.156", "start_pos": 156, "end_pos": 156, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "E3 ubiquitin ligase COP1 regulates the stability and functions of MTA1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Li DQ, Ohshiro K, Reddy SD, Pakala SB, Lee MH, Zhang Y, Rayala SK, Kumar R", "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "reference": [ { "type": "PubMed", "id": "19805145", "url": "https://glygen.org/publication/PubMed/19805145" } ] } ], "crossref": [ { "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19805145", "url": "https://glygen.org/publication/PubMed/19805145", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "CPICFDMIEEAYMTKCGHSF", "down_seq": "YKCIHQSLEDNNRCPKCNYV", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of MTA1 ubiquitination and degradation; when associated with S-159.", "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" }, { "database": "PubMed", "id": "19805145", "url": "https://glygen.org/publication/PubMed/19805145" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8NHY2-1.136.136", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q8NHY2-1.139.139", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8NHY2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8NHY2-1.159.159", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8NHY2-1.170.170", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NHY2-1.159.159", "start_pos": 159, "end_pos": 159, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "E3 ubiquitin ligase COP1 regulates the stability and functions of MTA1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Li DQ, Ohshiro K, Reddy SD, Pakala SB, Lee MH, Zhang Y, Rayala SK, Kumar R", "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "reference": [ { "type": "PubMed", "id": "19805145", "url": "https://glygen.org/publication/PubMed/19805145" } ] } ], "crossref": [ { "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19805145", "url": "https://glygen.org/publication/PubMed/19805145", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "CFDMIEEAYMTKCGHSFCYK", "down_seq": "IHQSLEDNNRCPKCNYVVDN", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of MTA1 ubiquitination and degradation; when associated with S-156.", "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" }, { "database": "PubMed", "id": "19805145", "url": "https://glygen.org/publication/PubMed/19805145" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8NHY2-1.139.139", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8NHY2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8NHY2-1.156.156", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8NHY2-1.170.170", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NHY2-1.102.102", "start_pos": 102, "end_pos": 102, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VSTGLSRHSCAARPSAGVGG", "down_seq": "SSSLGSGSRKRPLLAPLCNG", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "1", "chr_pos": "176206674", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S102", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8NHY2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8NHY2-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q8NHY2-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8NHY2-1.111.113", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.108.108", "start_pos": 108, "end_pos": 108, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RHSCAARPSAGVGGSSSSLG", "down_seq": "GSRKRPLLAPLCNGLINSYE", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "1", "chr_pos": "176206656", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S108", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8NHY2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8NHY2-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8NHY2-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8NHY2-1.111.113", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8NHY2-1.127.127", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.110.110", "start_pos": 110, "end_pos": 110, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SCAARPSAGVGGSSSSLGSG", "down_seq": "RKRPLLAPLCNGLINSYEDK", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "1", "chr_pos": "176206650", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S110", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q8NHY2-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8NHY2-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8NHY2-1.111.113", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8NHY2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8NHY2-1.129.129", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.127.127", "start_pos": 127, "end_pos": 127, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1553323516", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553323516", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1553323516", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1553323516#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "GSGSRKRPLLAPLCNGLINS", "down_seq": "EDKSNDFVCPICFDMIEEAY", "snv": [ { "evidence": [ { "id": "rs1553323516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553323516" }, { "id": "rs1553323516", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1553323516#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSY->NSC).", "chr_id": "1", "chr_pos": "176206599", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y127", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8NHY2-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q8NHY2-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q8NHY2-1.111.113", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8NHY2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8NHY2-1.136.136", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8NHY2-1.139.139", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.129.129", "start_pos": 129, "end_pos": 129, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1700880370", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1700880370", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1700880370", "url": "https://www.ensembl.org/id/rs1700880370", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GSRKRPLLAPLCNGLINSYE", "down_seq": "KSNDFVCPICFDMIEEAYMT", "snv": [ { "evidence": [ { "id": "rs1700880370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1700880370" }, { "id": "rs1700880370", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1700880370" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DKS->NKS).", "chr_id": "1", "chr_pos": "176206594", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D129", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8NHY2-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q8NHY2-1.111.113", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8NHY2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8NHY2-1.136.136", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8NHY2-1.139.139", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.154.154", "start_pos": 154, "end_pos": 154, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FVCPICFDMIEEAYMTKCGH", "down_seq": "FCYKCIHQSLEDNNRCPKCN", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SFC->NFC).", "chr_id": "1", "chr_pos": "176184639", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S154", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8NHY2-1.136.136", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q8NHY2-1.139.139", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8NHY2-1.156.156", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8NHY2-1.159.159", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8NHY2-1.170.170", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.170.170", "start_pos": 170, "end_pos": 170, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "KCGHSFCYKCIHQSLEDNNR", "down_seq": "PKCNYVVDNIDHLYPNFLVN", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "176175966", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C170", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8NHY2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q8NHY2-1.156.156", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8NHY2-1.159.159", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.220.220", "start_pos": 220, "end_pos": 220, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "FEEKRFKLDHSVSSTNGHRW", "down_seq": "IFQDWLGTDQDNLDLANVNL", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "176162971", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Q220", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q8NHY2-1.239.239", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.239.239", "start_pos": 239, "end_pos": 239, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1276395376", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1276395376", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1276395376", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1276395376#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1276395376", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1276395376", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1276395376", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1276395376", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "WQIFQDWLGTDQDNLDLANV", "down_seq": "LMLELLVQKKKQLEAESHAA", "snv": [ { "evidence": [ { "id": "rs1276395376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1276395376" }, { "id": "rs1276395376", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1276395376#frequency_tab" }, { "id": "rs1276395376", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1276395376" }, { "id": "rs1276395376", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1276395376" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "1", "chr_pos": "176162915", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N239", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8NHY2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8NHY2-1.241.241", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.241.241", "start_pos": 241, "end_pos": 241, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs939321646", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs939321646", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs939321646", "url": "http://gnomad.broadinstitute.org/awesome?query=rs939321646", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "IFQDWLGTDQDNLDLANVNL", "down_seq": "LELLVQKKKQLEAESHAAQL", "snv": [ { "evidence": [ { "id": "rs939321646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs939321646" }, { "id": "rs939321646", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs939321646" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLM->NLT).", "chr_id": "1", "chr_pos": "176162909", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M241", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q8NHY2-1.239.239", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.327.327", "start_pos": 327, "end_pos": 327, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SEDSTVPQFEAPSPSHSSII", "down_seq": "STEYSQPPGFSGSSQTKKQP", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "1", "chr_pos": "176116671", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D327", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.352.352", "start_pos": 352, "end_pos": 352, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs757438162", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757438162", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs757438162", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757438162", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs757438162", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757438162#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs757438162", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757438162", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SQPPGFSGSSQTKKQPWYNS", "down_seq": "LASRRKRLTAHFEDLEQCYF", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NST->NSA).", "chr_id": "1", "chr_pos": "176085863", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T352", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" }, { "id": "rs757438162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757438162" }, { "id": "rs757438162", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757438162" }, { "id": "rs757438162", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757438162#frequency_tab" }, { "id": "rs757438162", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757438162" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NST->NSM).", "chr_id": "1", "chr_pos": "176085862", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T352", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q8NHY2-1.350.350", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8NHY2-1.357.357", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.357.357", "start_pos": 357, "end_pos": 357, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FSGSSQTKKQPWYNSTLASR", "down_seq": "KRLTAHFEDLEQCYFSTRMS", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "176085848", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R357", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "176085847", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R357", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q8NHY2-1.350.350", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8NHY2-1.352.352", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.378.378", "start_pos": 378, "end_pos": 378, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KRLTAHFEDLEQCYFSTRMS", "down_seq": "ISDDSRTASQLDEFQECLSK", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "1", "chr_pos": "176085784", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R378", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q8NHY2-1.387.387", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8NHY2-1.398.398", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.398.398", "start_pos": 398, "end_pos": 398, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748376806", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748376806", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748376806", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748376806", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748376806", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748376806#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs748376806", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748376806", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "RISDDSRTASQLDEFQECLS", "down_seq": "FTRYNSVRPLATLSYASDLY", "snv": [ { "evidence": [ { "id": "rs748376806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748376806" }, { "id": "rs748376806", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748376806" }, { "id": "rs748376806", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748376806#frequency_tab" }, { "id": "rs748376806", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748376806" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KFT->NFT).", "chr_id": "1", "chr_pos": "176081235", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K398", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8NHY2-1.378.378", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q8NHY2-1.387.387", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.471.471", "start_pos": 471, "end_pos": 471, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DTVIQDAVDIHYPENEMTCN", "down_seq": "KISCISWSSYHKNLLASSDY", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "176046190", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S471", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q8NHY2-1.477.477", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.477.477", "start_pos": 477, "end_pos": 477, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AVDIHYPENEMTCNSKISCI", "down_seq": "WSSYHKNLLASSDYEGTVIL", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SWS->NWS).", "chr_id": "1", "chr_pos": "176043810", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S477", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q8NHY2-1.471.471", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.506.506", "start_pos": 506, "end_pos": 506, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LASSDYEGTVILWDGFTGQR", "down_seq": "KVYQEHEKRCWSVDFNLMDP", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "176043723", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S506", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q8NHY2-1.514.514", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.514.514", "start_pos": 514, "end_pos": 514, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TVILWDGFTGQRSKVYQEHE", "down_seq": "RCWSVDFNLMDPKLLASGSD", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KRC->NRC).", "chr_id": "1", "chr_pos": "176043256", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K514", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q8NHY2-1.506.506", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.546.546", "start_pos": 546, "end_pos": 546, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1251652086", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1251652086", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1251652086", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1251652086", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PKLLASGSDDAKVKLWSTNL", "down_seq": "NSVASIEAKANVCCVKFSPS", "snv": [ { "evidence": [ { "id": "rs1251652086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1251652086" }, { "id": "rs1251652086", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1251652086" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DNS->NNS).", "chr_id": "1", "chr_pos": "176027665", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D546", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.586.586", "start_pos": 586, "end_pos": 586, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SSRYHLAFGCADHCVHYYDL", "down_seq": "NTKQPIMVFKGHRKAVSYAK", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "175989453", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R586", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.58.58", "start_pos": 58, "end_pos": 58, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PSVAVSAAALVSGGVAQAAG", "down_seq": "GGLGGPVRPVLVAPAVSGSG", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4484", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "176206806", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S58", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.634.634", "start_pos": 634, "end_pos": 634, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VSASTDSQLKLWNVGKPYCL", "down_seq": "SFKGHINEKNFVGLASNGDY", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "175988360", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R634", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.691.691", "start_pos": 691, "end_pos": 691, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LSKTLLTFKFDTVKSVLDKD", "down_seq": "KEDDTNEFVSAVCWRALPDG", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "1", "chr_pos": "175987005", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R691", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "1", "chr_pos": "175987004", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R691", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q8NHY2-1.699.699", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.699.699", "start_pos": 699, "end_pos": 699, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "KFDTVKSVLDKDRKEDDTNE", "down_seq": "VSAVCWRALPDGESNVLIAA", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NEF->NEC).", "chr_id": "1", "chr_pos": "175986980", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F699", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q8NHY2-1.691.691", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8NHY2-1.719.719", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.719.719", "start_pos": 719, "end_pos": 719, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "FVSAVCWRALPDGESNVLIA", "down_seq": "NSQGTIKVLELV", "snv": [ { "evidence": [ { "id": "Q8NHY2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY2" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "175947218", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A719", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8NHY2-1.699.699", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.89.89", "start_pos": 89, "end_pos": 89, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1700900890", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1700900890", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1700900890", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1700900890#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1700900890", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1700900890", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "LVAPAVSGSGGGAVSTGLSR", "down_seq": "SCAARPSAGVGGSSSSLGSG", "snv": [ { "evidence": [ { "id": "rs1700900890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1700900890" }, { "id": "rs1700900890", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1700900890#frequency_tab" }, { "id": "rs1700900890", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1700900890" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HSC->NSC).", "chr_id": "1", "chr_pos": "176206714", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H89", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q8NHY2-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8NHY2-1.108.108", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY2-1.387.387", "start_pos": 387, "end_pos": 387, "uniprot_canonical_ac": "Q8NHY2-1", "length": 731, "uniprot_id": "COP1_HUMAN", "protein_name": "E3 ubiquitin-protein ligase COP1", "refseq_ac": "NP_001001740", "refseq_name": "E3 ubiquitin-protein ligase COP1 isoform b", "gene_name": "COP1", "gene_names_uniprotkb": "COP1; RFWD2; RNF200", "gene_names_refseq": "CFAP78; COP1; FAP78; RFWD2; RNF200", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY2", "url": "https://www.uniprot.org/uniprotkb/Q8NHY2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ATM engages autodegradation of the E3 ubiquitin ligase COP1 after DNA damage.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Dornan D, Shimizu H, Mah A, Dudhela T, Eby M, O'rourke K, Seshagiri S, Dixit VM", "evidence": [ { "database": "Reactome", "id": "R-HSA-349425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-349425" }, { "database": "iPTMnet", "id": "Q8NHY2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NHY2" } ], "reference": [ { "type": "PubMed", "id": "16931761", "url": "https://glygen.org/publication/PubMed/16931761" } ] }, { "title": "Nuclear export regulation of COP1 by 14-3-3sigma in response to DNA damage.", "journal": "Molecular cancer", "date": "2010", "authors": "Su CH, Zhao R, Velazquez-Torres G, Chen J, Gully C, Yeung SC, Lee MH", "evidence": [ { "database": "iPTMnet", "id": "Q8NHY2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NHY2-1" } ], "reference": [ { "type": "PubMed", "id": "20843328", "url": "https://glygen.org/publication/PubMed/20843328" } ] }, { "title": "CSN6 deregulation impairs genome integrity in a COP1-dependent pathway.", "journal": "Oncotarget", "date": "2015", "authors": "Choi HH, Su CH, Fang L, Zhang J, Yeung SC, Lee MH", "evidence": [ { "database": "iPTMnet", "id": "Q8NHY2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NHY2" } ], "reference": [ { "type": "PubMed", "id": "25957415", "url": "https://glygen.org/publication/PubMed/25957415" } ] } ], "crossref": [ { "id": "Q8NHY2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NHY2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "16931761", "url": "https://glygen.org/publication/PubMed/16931761", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8NHY2", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q8NHY2", "database": "PRO", "categories": [ "Other" ] }, { "id": "20843328", "url": "https://glygen.org/publication/PubMed/20843328", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25957415", "url": "https://glygen.org/publication/PubMed/25957415", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LEQCYFSTRMSRISDDSRTA", "down_seq": "QLDEFQECLSKFTRYNSVRP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q13315-1", "kinase_gene_name": "ATM", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8NHY2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NHY2" }, { "database": "PubMed", "id": "16931761", "url": "https://glygen.org/publication/PubMed/16931761" } ], "site_lbl": "Ser387" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "PRO", "id": "Q8NHY2", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q8NHY2" }, { "database": "iPTMnet", "id": "Q8NHY2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NHY2" }, { "database": "PubMed", "id": "20843328", "url": "https://glygen.org/publication/PubMed/20843328" }, { "database": "PubMed", "id": "16931761", "url": "https://glygen.org/publication/PubMed/16931761" }, { "database": "PubMed", "id": "25957415", "url": "https://glygen.org/publication/PubMed/25957415" } ], "site_lbl": "Ser387" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "350", "end_pos": "350" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "111", "end_pos": "113" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "546", "end_pos": "546" }, { "start_pos": "586", "end_pos": "586" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "691", "end_pos": "691" }, { "start_pos": "699", "end_pos": "699" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "89", "end_pos": "89" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "387", "end_pos": "387" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8NHY2-1.378.378", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8NHY2-1.398.398", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P61769-1.102.111", "start_pos": 102, "end_pos": 111, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] } ], "crossref": [ { "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] }, { "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79", "database": "DOI", "categories": [ "Other" ] } ], "site_seq": "VNHVTLSQPK", "start_aa": "V", "up_seq": "FYLLYYTEFTPTEKDEYACR", "down_seq": "IVKWDRDM", "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VNHVTLSQPK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "icn3d_view": {}, "start_aa": "Val", "end_aa": "Lys", "evidence": [ { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P61769-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P61769-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P61769-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P61769-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P61769-1.106.106", "categories": [ "glycosylation_flag" ] }, { "distance": 0, "direction": "upstream", "id": "P61769-1.111.111", "categories": [ "glycation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P61769-1.114.114", "categories": [ "glycation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P61769-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P61769-1.117.117", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P61769-1.106.106", "start_pos": 106, "end_pos": 106, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] } ], "crossref": [ { "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] }, { "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79", "database": "DOI", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "YYTEFTPTEKDEYACRVNHV", "down_seq": "LSQPKIVKWDRDM", "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr106", "evidence": [ { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P61769-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P61769-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P61769-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P61769-1.102.111", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P61769-1.111.111", "categories": [ "glycation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P61769-1.114.114", "categories": [ "glycation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P61769-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P61769-1.117.117", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P61769-1.72.72", "start_pos": 72, "end_pos": 72, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P61769", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61769" }, { "database": "O-GlcNAc Atlas", "id": "P61769", "url": "https://oglcnac.org/atlas/detail/P61769" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] } ], "crossref": [ { "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P61769", "url": "https://oglcnac.org/atlas/detail/P61769", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2141288885", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141288885", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2141288885", "url": "https://www.ensembl.org/id/rs2141288885", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2141288885", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2141288885", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs2141288879", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141288879", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2141288879", "url": "https://www.ensembl.org/id/rs2141288879", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2141288879", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2141288879", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PSDIEVDLLKNGERIEKVEH", "down_seq": "DLSFSKDWSFYLLYYTEFTP", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser72", "evidence": [ { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "P61769", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P61769" } ] } ], "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" }, { "id": "rs2141288885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141288885" }, { "id": "rs2141288885", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2141288885" }, { "id": "rs2141288885", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2141288885" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->*).", "chr_id": "15", "chr_pos": "44715570", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S72", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2141288885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141288885" }, { "id": "rs2141288885", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2141288885" }, { "id": "rs2141288885", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2141288885" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->L).", "chr_id": "15", "chr_pos": "44715570", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S72", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" }, { "id": "rs2141288879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141288879" }, { "id": "rs2141288879", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2141288879" }, { "id": "rs2141288879", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2141288879" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->P).", "chr_id": "15", "chr_pos": "44715569", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S72", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P61769-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P61769-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P61769-1.61.61", "categories": [ "glycation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P61769-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P61769-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P61769-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P61769-1.68.68", "categories": [ "snv_flag", "glycation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P61769-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P61769-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P61769-1.75.75", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P61769-1.77.77", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P61769-1.78.78", "categories": [ "glycation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P61769-1.79.79", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P61769-1.80.80", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P61769-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P61769-1.86.86", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P61769-1.75.75", "start_pos": 75, "end_pos": 75, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P61769", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61769" }, { "database": "O-GlcNAc Atlas", "id": "P61769", "url": "https://oglcnac.org/atlas/detail/P61769" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] } ], "crossref": [ { "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P61769", "url": "https://oglcnac.org/atlas/detail/P61769", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs2141288912", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141288912", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2141288912", "url": "https://www.ensembl.org/id/rs2141288912", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2141288912", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2141288912", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs760823225", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760823225", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs760823225", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760823225", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs760823225", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760823225", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IEVDLLKNGERIEKVEHSDL", "down_seq": "FSKDWSFYLLYYTEFTPTEK", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser75", "evidence": [ { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "P61769", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P61769" } ] } ], "snv": [ { "evidence": [ { "id": "rs2141288912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141288912" }, { "id": "rs2141288912", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2141288912" }, { "id": "rs2141288912", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2141288912" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->A).", "chr_id": "15", "chr_pos": "44715578", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S75", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs760823225", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760823225" }, { "id": "rs760823225", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760823225" }, { "id": "rs760823225", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760823225" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->C).", "chr_id": "15", "chr_pos": "44715579", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S75", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" }, { "id": "rs760823225", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760823225" }, { "id": "rs760823225", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760823225" }, { "id": "rs760823225", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760823225" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "15", "chr_pos": "44715579", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S75", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs2141288912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141288912" }, { "id": "rs2141288912", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2141288912" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->P).", "chr_id": "15", "chr_pos": "44715578", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S75", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P61769-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P61769-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P61769-1.61.61", "categories": [ "glycation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P61769-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P61769-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P61769-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P61769-1.68.68", "categories": [ "snv_flag", "glycation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P61769-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P61769-1.72.72", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P61769-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P61769-1.77.77", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P61769-1.78.78", "categories": [ "glycation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P61769-1.79.79", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P61769-1.80.80", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P61769-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P61769-1.86.86", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P61769-1.77.77", "start_pos": 77, "end_pos": 77, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P61769", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61769" }, { "database": "O-GlcNAc Atlas", "id": "P61769", "url": "https://oglcnac.org/atlas/detail/P61769" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "title": "O-GlcNAc-induced nuclear translocation of hnRNP-K is associated with progression and metastasis of cholangiocarcinoma.", "journal": "Molecular oncology", "date": "2019", "authors": "Phoomak C, Park D, Silsirivanit A, Sawanyawisuth K, Vaeteewoottacharn K, Detarya M, Wongkham C, Lebrilla CB, Wongkham S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P61769", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61769" } ], "reference": [ { "type": "PubMed", "id": "30444036", "url": "https://glygen.org/publication/PubMed/30444036" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P61769", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61769" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "P61769", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61769" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P61769", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61769" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "P61769", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61769" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] } ], "crossref": [ { "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P61769", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61769", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30444036", "url": "https://glygen.org/publication/PubMed/30444036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P61769", "url": "https://oglcnac.org/atlas/detail/P61769", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs2141288933", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141288933", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2141288933", "url": "https://www.ensembl.org/id/rs2141288933", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2141288935", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141288935", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2141288935", "url": "https://www.ensembl.org/id/rs2141288935", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2141288935", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2141288935", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs2086932185", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2086932185", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2086932185", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2086932185#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs2086932185", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2086932185", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VDLLKNGERIEKVEHSDLSF", "down_seq": "KDWSFYLLYYTEFTPTEKDE", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser77", "evidence": [ { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "P61769", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61769" }, { "id": "30444036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30444036" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "P61769", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P61769" } ] } ], "snv": [ { "evidence": [ { "id": "rs2141288933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141288933" }, { "id": "rs2141288933", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2141288933" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->C).", "chr_id": "15", "chr_pos": "44715584", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S77", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2141288935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141288935" }, { "id": "rs2141288935", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2141288935" }, { "id": "rs2141288935", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2141288935" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->I).", "chr_id": "15", "chr_pos": "44715585", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S77", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2141288935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141288935" }, { "id": "rs2141288935", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2141288935" }, { "id": "rs2141288935", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2141288935" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->N).", "chr_id": "15", "chr_pos": "44715585", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S77", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2086932185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2086932185" }, { "id": "rs2086932185", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2086932185#frequency_tab" }, { "id": "rs2086932185", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2086932185" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->R).", "chr_id": "15", "chr_pos": "44715586", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S77", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P61769-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P61769-1.61.61", "categories": [ "glycation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P61769-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P61769-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P61769-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P61769-1.68.68", "categories": [ "snv_flag", "glycation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P61769-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P61769-1.72.72", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P61769-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P61769-1.75.75", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P61769-1.78.78", "categories": [ "glycation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P61769-1.79.79", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P61769-1.80.80", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P61769-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P61769-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P61769-1.97.97", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P61769-1.79.79", "start_pos": 79, "end_pos": 79, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "DE loop mutations affect beta2-microglobulin stability and amyloid aggregation.", "journal": "Biochemical and biophysical research communications", "date": "2008", "authors": "Ricagno S, Colombo M, de Rosa M, Sangiovanni E, Giorgetti S, Raimondi S, Bellotti V, Bolognesi M", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "reference": [ { "type": "PubMed", "id": "18835253", "url": "https://glygen.org/publication/PubMed/18835253" } ] } ], "crossref": [ { "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18835253", "url": "https://glygen.org/publication/PubMed/18835253", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs2141288948", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141288948", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2141288948", "url": "https://www.ensembl.org/id/rs2141288948", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LLKNGERIEKVEHSDLSFSK", "down_seq": "WSFYLLYYTEFTPTEKDEYA", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "P", "comment": "Increases tendency towards amyloid formation.", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" }, { "database": "PubMed", "id": "18835253", "url": "https://glygen.org/publication/PubMed/18835253" } ] } ], "snv": [ { "evidence": [ { "id": "rs2141288948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141288948" }, { "id": "rs2141288948", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2141288948" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DWS->NWS).", "chr_id": "15", "chr_pos": "44715590", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D79", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "mutagenesis_flag", "snv_flag" ], "glycosylation": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P61769-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P61769-1.61.61", "categories": [ "glycation_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P61769-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P61769-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P61769-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P61769-1.68.68", "categories": [ "snv_flag", "glycation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P61769-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P61769-1.72.72", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P61769-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P61769-1.75.75", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P61769-1.77.77", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P61769-1.78.78", "categories": [ "glycation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P61769-1.80.80", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P61769-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P61769-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P61769-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P61769-1.98.98", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P61769-1.80.80", "start_pos": 80, "end_pos": 80, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Human beta-2 microglobulin W60V mutant structure: Implications for stability and amyloid aggregation.", "journal": "Biochemical and biophysical research communications", "date": "2009", "authors": "Ricagno S, Raimondi S, Giorgetti S, Bellotti V, Bolognesi M", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "reference": [ { "type": "PubMed", "id": "19284997", "url": "https://glygen.org/publication/PubMed/19284997" } ] }, { "title": "The controlling roles of Trp60 and Trp95 in beta2-microglobulin function, folding and amyloid aggregation properties.", "journal": "Journal of molecular biology", "date": "2008", "authors": "Esposito G, Ricagno S, Corazza A, Rennella E, Gumral D, Mimmi MC, Betto E, Pucillo CE, Fogolari F, Viglino P, Raimondi S, Giorgetti S, Bolognesi B, Merlini G, Stoppini M, Bolognesi M, Bellotti V", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "reference": [ { "type": "PubMed", "id": "18395224", "url": "https://glygen.org/publication/PubMed/18395224" } ] } ], "crossref": [ { "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19284997", "url": "https://glygen.org/publication/PubMed/19284997", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18395224", "url": "https://glygen.org/publication/PubMed/18395224", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "LKNGERIEKVEHSDLSFSKD", "down_seq": "SFYLLYYTEFTPTEKDEYAC", "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Decreases tendency towards amyloid formation.", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" }, { "database": "PubMed", "id": "19284997", "url": "https://glygen.org/publication/PubMed/19284997" }, { "database": "PubMed", "id": "18395224", "url": "https://glygen.org/publication/PubMed/18395224" } ] }, { "sequence_org": "W", "sequence_mut": "V", "comment": "Increases tendency towards amyloid formation.", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" }, { "database": "PubMed", "id": "19284997", "url": "https://glygen.org/publication/PubMed/19284997" }, { "database": "PubMed", "id": "18395224", "url": "https://glygen.org/publication/PubMed/18395224" } ] } ], "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "44715593", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "W80", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "mutagenesis_flag", "snv_flag" ], "glycosylation": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P61769-1.61.61", "categories": [ "glycation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P61769-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P61769-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P61769-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P61769-1.68.68", "categories": [ "snv_flag", "glycation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P61769-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P61769-1.72.72", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P61769-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P61769-1.75.75", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P61769-1.77.77", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P61769-1.78.78", "categories": [ "glycation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P61769-1.79.79", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P61769-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P61769-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P61769-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P61769-1.98.98", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P61769-1.115.115", "start_pos": 115, "end_pos": 115, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "KDEYACRVNHVTLSQPKIVK", "down_seq": "DRDM", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "W", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "44715700", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "W115", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P61769-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P61769-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P61769-1.102.111", "categories": [ "glycosylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P61769-1.106.106", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P61769-1.111.111", "categories": [ "glycation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P61769-1.114.114", "categories": [ "glycation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P61769-1.117.117", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.117.117", "start_pos": 117, "end_pos": 117, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EYACRVNHVTLSQPKIVKWD", "down_seq": "DM", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "5", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "44716331", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R117", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P61769-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P61769-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P61769-1.102.111", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P61769-1.106.106", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P61769-1.111.111", "categories": [ "glycation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P61769-1.114.114", "categories": [ "glycation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P61769-1.115.115", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.12.12", "start_pos": 12, "end_pos": 12, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "MSRSVALAVLA", "down_seq": "LSLSGLEAIQRTPKIQVYSR", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "10", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: patient count (10/9251).", "chr_id": "15", "chr_pos": "44711581", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L12", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "44711581", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L12", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "P61769-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P61769-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P61769-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P61769-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P61769-1.21.21", "categories": [ "glycation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P61769-1.28.28", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.15.15", "start_pos": 15, "end_pos": 15, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "MSRSVALAVLALLS", "down_seq": "SGLEAIQRTPKIQVYSRHPA", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "44711589", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L15", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P61769-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P61769-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P61769-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P61769-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P61769-1.21.21", "categories": [ "glycation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P61769-1.28.28", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.19.19", "start_pos": 19, "end_pos": 19, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "MSRSVALAVLALLSLSGL", "down_seq": "AIQRTPKIQVYSRHPAENGK", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "5", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "44711601", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E19", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P61769-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P61769-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P61769-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P61769-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P61769-1.21.21", "categories": [ "glycation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P61769-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P61769-1.39.39", "categories": [ "glycation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.28.28", "start_pos": 28, "end_pos": 28, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "AVLALLSLSGLEAIQRTPKI", "down_seq": "VYSRHPAENGKSNFLNCYVS", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "4", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "44715437", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q28", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P61769-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P61769-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P61769-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P61769-1.21.21", "categories": [ "glycation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P61769-1.39.39", "categories": [ "glycation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P61769-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P61769-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P61769-1.46.46", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.3.3", "start_pos": 3, "end_pos": 3, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MS", "down_seq": "SVALAVLALLSLSGLEAIQR", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "15", "chr_pos": "44711553", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R3", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "P61769-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P61769-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P61769-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P61769-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P61769-1.21.21", "categories": [ "glycation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.40.40", "start_pos": 40, "end_pos": 40, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AIQRTPKIQVYSRHPAENGK", "down_seq": "NFLNCYVSGFHPSDIEVDLL", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "44715474", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S40", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P61769-1.21.21", "categories": [ "glycation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P61769-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P61769-1.39.39", "categories": [ "glycation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P61769-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P61769-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P61769-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P61769-1.59.59", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.43.43", "start_pos": 43, "end_pos": 43, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "RTPKIQVYSRHPAENGKSNF", "down_seq": "NCYVSGFHPSDIEVDLLKNG", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "44715483", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L43", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P61769-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P61769-1.39.39", "categories": [ "glycation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P61769-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P61769-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P61769-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P61769-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P61769-1.61.61", "categories": [ "glycation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P61769-1.63.63", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.46.46", "start_pos": 46, "end_pos": 46, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1435502075", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1435502075", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1435502075", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1435502075#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1435502075", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1435502075", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "KIQVYSRHPAENGKSNFLNC", "down_seq": "VSGFHPSDIEVDLLKNGERI", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" }, { "id": "rs1435502075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1435502075" }, { "id": "rs1435502075", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1435502075#frequency_tab" }, { "id": "rs1435502075", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1435502075" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NCY->NCC).", "chr_id": "15", "chr_pos": "44715492", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y46", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P61769-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P61769-1.39.39", "categories": [ "glycation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P61769-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P61769-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P61769-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P61769-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P61769-1.61.61", "categories": [ "glycation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P61769-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P61769-1.64.64", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.56.56", "start_pos": 56, "end_pos": 56, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "ENGKSNFLNCYVSGFHPSDI", "down_seq": "VDLLKNGERIEKVEHSDLSF", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "5", "frequency": "0.3", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "15", "chr_pos": "44715521", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E56", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P61769-1.39.39", "categories": [ "glycation_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P61769-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P61769-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P61769-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P61769-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P61769-1.61.61", "categories": [ "glycation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P61769-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P61769-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P61769-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P61769-1.68.68", "categories": [ "snv_flag", "glycation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P61769-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P61769-1.72.72", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P61769-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P61769-1.75.75", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.59.59", "start_pos": 59, "end_pos": 59, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "KSNFLNCYVSGFHPSDIEVD", "down_seq": "LKNGERIEKVEHSDLSFSKD", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "3", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "44715531", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L59", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P61769-1.39.39", "categories": [ "glycation_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P61769-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P61769-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P61769-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P61769-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P61769-1.61.61", "categories": [ "glycation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P61769-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P61769-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P61769-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P61769-1.68.68", "categories": [ "snv_flag", "glycation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P61769-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P61769-1.72.72", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P61769-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P61769-1.75.75", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P61769-1.77.77", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P61769-1.78.78", "categories": [ "glycation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P61769-1.79.79", "categories": [ "mutagenesis_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.63.63", "start_pos": 63, "end_pos": 63, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LNCYVSGFHPSDIEVDLLKN", "down_seq": "ERIEKVEHSDLSFSKDWSFY", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "44715543", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G63", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P61769-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P61769-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P61769-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P61769-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P61769-1.61.61", "categories": [ "glycation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P61769-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P61769-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P61769-1.68.68", "categories": [ "snv_flag", "glycation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P61769-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P61769-1.72.72", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P61769-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P61769-1.75.75", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P61769-1.77.77", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P61769-1.78.78", "categories": [ "glycation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P61769-1.79.79", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P61769-1.80.80", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P61769-1.83.83", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.64.64", "start_pos": 64, "end_pos": 64, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "NCYVSGFHPSDIEVDLLKNG", "down_seq": "RIEKVEHSDLSFSKDWSFYL", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "4", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "44715545", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E64", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P61769-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P61769-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P61769-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P61769-1.61.61", "categories": [ "glycation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P61769-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P61769-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P61769-1.68.68", "categories": [ "snv_flag", "glycation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P61769-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P61769-1.72.72", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P61769-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P61769-1.75.75", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P61769-1.77.77", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P61769-1.78.78", "categories": [ "glycation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P61769-1.79.79", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P61769-1.80.80", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P61769-1.83.83", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.67.67", "start_pos": 67, "end_pos": 67, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "VSGFHPSDIEVDLLKNGERI", "down_seq": "KVEHSDLSFSKDWSFYLLYY", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "44715554", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E67", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "44715554", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E67", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P61769-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P61769-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P61769-1.61.61", "categories": [ "glycation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P61769-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P61769-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P61769-1.68.68", "categories": [ "snv_flag", "glycation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P61769-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P61769-1.72.72", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P61769-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P61769-1.75.75", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P61769-1.77.77", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P61769-1.78.78", "categories": [ "glycation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P61769-1.79.79", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P61769-1.80.80", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P61769-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P61769-1.86.86", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.68.68", "start_pos": 68, "end_pos": 68, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Glycation of human beta 2-microglobulin in patients with hemodialysis-associated amyloidosis: identification of the glycated sites.", "journal": "Biochemistry", "date": "1994", "authors": "Miyata T, Inagi R, Wada Y, Ueda Y, Iida Y, Takahashi M, Taniguchi N, Maeda K", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769#ptm_processing" }, { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "reference": [ { "type": "PubMed", "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443" } ] } ], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SGFHPSDIEVDLLKNGERIE", "down_seq": "VEHSDLSFSKDWSFYLLYYT", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "44715557", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K68", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "glycation": [ { "glytoucan_ac": "", "type": "N-linked", "residue": "Lys", "comment": "N-linked (Glc) (glycation) lysine", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769#ptm_processing" }, { "database": "PubMed", "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443" } ], "relation": "attached" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag", "glycation_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P61769-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P61769-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P61769-1.61.61", "categories": [ "glycation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P61769-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P61769-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P61769-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P61769-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P61769-1.72.72", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P61769-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P61769-1.75.75", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P61769-1.77.77", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P61769-1.78.78", "categories": [ "glycation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P61769-1.79.79", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P61769-1.80.80", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P61769-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P61769-1.86.86", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": true, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P61769-1.70.70", "start_pos": 70, "end_pos": 70, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "FHPSDIEVDLLKNGERIEKV", "down_seq": "HSDLSFSKDWSFYLLYYTEF", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "44715563", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E70", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P61769-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P61769-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P61769-1.61.61", "categories": [ "glycation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P61769-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P61769-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P61769-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P61769-1.68.68", "categories": [ "snv_flag", "glycation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P61769-1.72.72", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P61769-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P61769-1.75.75", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P61769-1.77.77", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P61769-1.78.78", "categories": [ "glycation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P61769-1.79.79", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P61769-1.80.80", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P61769-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P61769-1.86.86", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.73.73", "start_pos": 73, "end_pos": 73, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs11553037", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11553037", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs11553037", "url": "https://www.ensembl.org/id/rs11553037", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SDIEVDLLKNGERIEKVEHS", "down_seq": "LSFSKDWSFYLLYYTEFTPT", "snv": [ { "evidence": [ { "id": "rs11553037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11553037" }, { "id": "rs11553037", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs11553037" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "15", "chr_pos": "44715572", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D73", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P61769-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P61769-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P61769-1.61.61", "categories": [ "glycation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P61769-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P61769-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P61769-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P61769-1.68.68", "categories": [ "snv_flag", "glycation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P61769-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P61769-1.72.72", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P61769-1.75.75", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P61769-1.77.77", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P61769-1.78.78", "categories": [ "glycation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P61769-1.79.79", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P61769-1.80.80", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P61769-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P61769-1.86.86", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.7.7", "start_pos": 7, "end_pos": 7, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "MSRSVA", "down_seq": "AVLALLSLSGLEAIQRTPKI", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "44711566", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L7", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "P61769-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P61769-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P61769-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P61769-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P61769-1.21.21", "categories": [ "glycation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.83.83", "start_pos": 83, "end_pos": 83, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "GERIEKVEHSDLSFSKDWSF", "down_seq": "LLYYTEFTPTEKDEYACRVN", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Y", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "44715603", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Y83", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P61769-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P61769-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P61769-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P61769-1.68.68", "categories": [ "snv_flag", "glycation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P61769-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P61769-1.72.72", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P61769-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P61769-1.75.75", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P61769-1.77.77", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P61769-1.78.78", "categories": [ "glycation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P61769-1.79.79", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P61769-1.80.80", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P61769-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P61769-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P61769-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P61769-1.102.111", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.86.86", "start_pos": 86, "end_pos": 86, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "IEKVEHSDLSFSKDWSFYLL", "down_seq": "YTEFTPTEKDEYACRVNHVT", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (YYT->NYT).", "chr_id": "15", "chr_pos": "44715611", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Y86", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P61769-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P61769-1.68.68", "categories": [ "snv_flag", "glycation_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P61769-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P61769-1.72.72", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P61769-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P61769-1.75.75", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P61769-1.77.77", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P61769-1.78.78", "categories": [ "glycation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P61769-1.79.79", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P61769-1.80.80", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P61769-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P61769-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P61769-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P61769-1.102.111", "categories": [ "glycosylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P61769-1.106.106", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.97.97", "start_pos": 97, "end_pos": 97, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SKDWSFYLLYYTEFTPTEKD", "down_seq": "YACRVNHVTLSQPKIVKWDR", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "44715644", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E97", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P61769-1.77.77", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P61769-1.78.78", "categories": [ "glycation_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P61769-1.79.79", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P61769-1.80.80", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P61769-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P61769-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P61769-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P61769-1.102.111", "categories": [ "glycosylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P61769-1.106.106", "categories": [ "glycosylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P61769-1.111.111", "categories": [ "glycation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P61769-1.114.114", "categories": [ "glycation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P61769-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P61769-1.117.117", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.98.98", "start_pos": 98, "end_pos": 98, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61769", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2141289096", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141289096", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2141289096", "url": "https://www.ensembl.org/id/rs2141289096", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2141289096", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2141289096", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "KDWSFYLLYYTEFTPTEKDE", "down_seq": "ACRVNHVTLSQPKIVKWDRD", "snv": [ { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "44715648", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y98", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P61769", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61769" }, { "id": "rs2141289096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141289096" }, { "id": "rs2141289096", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2141289096" }, { "id": "rs2141289096", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2141289096" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "9251", "subjects_positive": "4", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (YAC->NAC).", "chr_id": "15", "chr_pos": "44715647", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Y98", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P61769-1.78.78", "categories": [ "glycation_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P61769-1.79.79", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P61769-1.80.80", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P61769-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P61769-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P61769-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P61769-1.102.111", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P61769-1.106.106", "categories": [ "glycosylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P61769-1.111.111", "categories": [ "glycation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P61769-1.114.114", "categories": [ "glycation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P61769-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P61769-1.117.117", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61769-1.111.111", "start_pos": 111, "end_pos": 111, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Glycation of human beta 2-microglobulin in patients with hemodialysis-associated amyloidosis: identification of the glycated sites.", "journal": "Biochemistry", "date": "1994", "authors": "Miyata T, Inagi R, Wada Y, Ueda Y, Iida Y, Takahashi M, Taniguchi N, Maeda K", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769#ptm_processing" }, { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "reference": [ { "type": "PubMed", "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443" } ] } ], "crossref": [ { "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TPTEKDEYACRVNHVTLSQP", "down_seq": "IVKWDRDM", "glycation": [ { "glytoucan_ac": "", "type": "N-linked", "residue": "Lys", "comment": "N-linked (Glc) (glycation) lysine", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769#ptm_processing" }, { "database": "PubMed", "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443" } ], "relation": "attached" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "glycation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P61769-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P61769-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 0, "direction": "downstream", "id": "P61769-1.102.111", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P61769-1.106.106", "categories": [ "glycosylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P61769-1.114.114", "categories": [ "glycation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P61769-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P61769-1.117.117", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": true, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P61769-1.114.114", "start_pos": 114, "end_pos": 114, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Glycation of human beta 2-microglobulin in patients with hemodialysis-associated amyloidosis: identification of the glycated sites.", "journal": "Biochemistry", "date": "1994", "authors": "Miyata T, Inagi R, Wada Y, Ueda Y, Iida Y, Takahashi M, Taniguchi N, Maeda K", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769#ptm_processing" }, { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "reference": [ { "type": "PubMed", "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443" } ] } ], "crossref": [ { "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "EKDEYACRVNHVTLSQPKIV", "down_seq": "WDRDM", "glycation": [ { "glytoucan_ac": "", "type": "N-linked", "residue": "Lys", "comment": "N-linked (Glc) (glycation) lysine", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769#ptm_processing" }, { "database": "PubMed", "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443" } ], "relation": "attached" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "glycation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P61769-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P61769-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P61769-1.102.111", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P61769-1.106.106", "categories": [ "glycosylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P61769-1.111.111", "categories": [ "glycation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P61769-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P61769-1.117.117", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": true, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P61769-1.21.21", "start_pos": 21, "end_pos": 21, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Glycation of human beta 2-microglobulin in patients with hemodialysis-associated amyloidosis: identification of the glycated sites.", "journal": "Biochemistry", "date": "1994", "authors": "Miyata T, Inagi R, Wada Y, Ueda Y, Iida Y, Takahashi M, Taniguchi N, Maeda K", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769#ptm_processing" }, { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "reference": [ { "type": "PubMed", "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443" } ] } ], "crossref": [ { "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "MSRSVALAVLALLSLSGLEA", "down_seq": "QRTPKIQVYSRHPAENGKSN", "glycation": [ { "glytoucan_ac": "", "type": "N-linked", "residue": "Ile", "comment": "N-linked (Glc) (glycation) isoleucine", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769#ptm_processing" }, { "database": "PubMed", "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443" } ], "relation": "attached" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "glycation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P61769-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P61769-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P61769-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P61769-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P61769-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P61769-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P61769-1.39.39", "categories": [ "glycation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P61769-1.40.40", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": true, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P61769-1.39.39", "start_pos": 39, "end_pos": 39, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Glycation of human beta 2-microglobulin in patients with hemodialysis-associated amyloidosis: identification of the glycated sites.", "journal": "Biochemistry", "date": "1994", "authors": "Miyata T, Inagi R, Wada Y, Ueda Y, Iida Y, Takahashi M, Taniguchi N, Maeda K", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769#ptm_processing" }, { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "reference": [ { "type": "PubMed", "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443" } ] } ], "crossref": [ { "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "EAIQRTPKIQVYSRHPAENG", "down_seq": "SNFLNCYVSGFHPSDIEVDL", "glycation": [ { "glytoucan_ac": "", "type": "N-linked", "residue": "Lys", "comment": "N-linked (Glc) (glycation) lysine", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769#ptm_processing" }, { "database": "PubMed", "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443" } ], "relation": "attached" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "glycation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P61769-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P61769-1.21.21", "categories": [ "glycation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P61769-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P61769-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P61769-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P61769-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P61769-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P61769-1.59.59", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": true, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P61769-1.61.61", "start_pos": 61, "end_pos": 61, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Glycation of human beta 2-microglobulin in patients with hemodialysis-associated amyloidosis: identification of the glycated sites.", "journal": "Biochemistry", "date": "1994", "authors": "Miyata T, Inagi R, Wada Y, Ueda Y, Iida Y, Takahashi M, Taniguchi N, Maeda K", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769#ptm_processing" }, { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "reference": [ { "type": "PubMed", "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443" } ] } ], "crossref": [ { "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "NFLNCYVSGFHPSDIEVDLL", "down_seq": "NGERIEKVEHSDLSFSKDWS", "glycation": [ { "glytoucan_ac": "", "type": "N-linked", "residue": "Lys", "comment": "N-linked (Glc) (glycation) lysine", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769#ptm_processing" }, { "database": "PubMed", "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443" } ], "relation": "attached" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "glycation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P61769-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P61769-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P61769-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P61769-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P61769-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P61769-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P61769-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P61769-1.68.68", "categories": [ "snv_flag", "glycation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P61769-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P61769-1.72.72", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P61769-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P61769-1.75.75", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P61769-1.77.77", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P61769-1.78.78", "categories": [ "glycation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P61769-1.79.79", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P61769-1.80.80", "categories": [ "mutagenesis_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": true, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P61769-1.78.78", "start_pos": 78, "end_pos": 78, "uniprot_canonical_ac": "P61769-1", "length": 119, "uniprot_id": "B2MG_HUMAN", "protein_name": "Beta-2-microglobulin", "refseq_ac": "NP_004039", "refseq_name": "beta-2-microglobulin precursor", "gene_name": "B2M", "gene_names_uniprotkb": "B2M; CDABP0092; HDCMA22P", "gene_names_refseq": "AMYLD6; B2M; IMD43; MHC1D4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Glycation of human beta 2-microglobulin in patients with hemodialysis-associated amyloidosis: identification of the glycated sites.", "journal": "Biochemistry", "date": "1994", "authors": "Miyata T, Inagi R, Wada Y, Ueda Y, Iida Y, Takahashi M, Taniguchi N, Maeda K", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769#ptm_processing" }, { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769" } ], "reference": [ { "type": "PubMed", "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443" } ] } ], "crossref": [ { "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "DLLKNGERIEKVEHSDLSFS", "down_seq": "DWSFYLLYYTEFTPTEKDEY", "glycation": [ { "glytoucan_ac": "", "type": "N-linked", "residue": "Lys", "comment": "N-linked (Glc) (glycation) lysine", "evidence": [ { "database": "UniProtKB", "id": "P61769", "url": "https://www.uniprot.org/uniprotkb/P61769#ptm_processing" }, { "database": "PubMed", "id": "7918443", "url": "https://glygen.org/publication/PubMed/7918443" } ], "relation": "attached" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "102", "end_pos": "111" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "79", "end_pos": "79" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "glycation", "site_list": [ { "start_pos": "111", "end_pos": "111" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "glycation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P61769-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P61769-1.61.61", "categories": [ "glycation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P61769-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P61769-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P61769-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P61769-1.68.68", "categories": [ "snv_flag", "glycation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P61769-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P61769-1.72.72", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P61769-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P61769-1.75.75", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P61769-1.77.77", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P61769-1.79.79", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P61769-1.80.80", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P61769-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P61769-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P61769-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P61769-1.98.98", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": true, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P63151-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "P63151-1", "length": 447, "uniprot_id": "2ABA_HUMAN", "protein_name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform", "refseq_ac": "NP_001171062", "refseq_name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform isoform 2", "gene_name": "PPP2R2A", "gene_names_uniprotkb": "PPP2R2A", "gene_names_refseq": "B55ALPHA; B55A; B55; PPP2R2A; PR52A; PR55A; PR55alpha", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P63151", "url": "https://www.uniprot.org/uniprotkb/P63151" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Comparative O-GlcNAc Proteomic Analysis Reveals a Role of O-GlcNAcylated SAM68 in Lung Cancer Aggressiveness.", "journal": "Cancers", "date": "2022", "authors": "Lin CH, Liao CC, Wang SY, Peng CY, Yeh YC, Chen MY, Chou TY", "evidence": [ { "database": "O-GlcNAc Database", "id": "P63151", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P63151" } ], "reference": [ { "type": "PubMed", "id": "35008409", "url": "https://glygen.org/publication/PubMed/35008409" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P63151", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P63151" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "P63151", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P63151" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P63151", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P63151" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "crossref": [ { "id": "35008409", "url": "https://glygen.org/publication/PubMed/35008409", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P63151", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P63151", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "P63151", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P63151" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "252", "end_pos": "252" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "389", "end_pos": "389" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "400", "end_pos": "400" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P63151-1.252.252", "start_pos": 252, "end_pos": 252, "uniprot_canonical_ac": "P63151-1", "length": 447, "uniprot_id": "2ABA_HUMAN", "protein_name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform", "refseq_ac": "NP_001171062", "refseq_name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform isoform 2", "gene_name": "PPP2R2A", "gene_names_uniprotkb": "PPP2R2A", "gene_names_refseq": "B55ALPHA; B55A; B55; PPP2R2A; PR52A; PR55A; PR55alpha", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P63151", "url": "https://www.uniprot.org/uniprotkb/P63151" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P63151", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P63151", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AEFHPNSCNTFVYSSSKGTI", "down_seq": "LCDMRASALCDRHSKLFEEP", "snv": [ { "evidence": [ { "id": "P63151", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P63151" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "26362801", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R252", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "252", "end_pos": "252" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "389", "end_pos": "389" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "400", "end_pos": "400" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P63151-1.289.289", "start_pos": 289, "end_pos": 289, "uniprot_canonical_ac": "P63151-1", "length": 447, "uniprot_id": "2ABA_HUMAN", "protein_name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform", "refseq_ac": "NP_001171062", "refseq_name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform isoform 2", "gene_name": "PPP2R2A", "gene_names_uniprotkb": "PPP2R2A", "gene_names_refseq": "B55ALPHA; B55A; B55; PPP2R2A; PR52A; PR55A; PR55alpha", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P63151", "url": "https://www.uniprot.org/uniprotkb/P63151" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P63151", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P63151", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FEEPEDPSNRSFFSEIISSI", "down_seq": "DVKFSHSGRYMMTRDYLSVK", "snv": [ { "evidence": [ { "id": "P63151", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P63151" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "8", "chr_pos": "26363784", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S289", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "252", "end_pos": "252" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "389", "end_pos": "389" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "400", "end_pos": "400" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "P63151-1.298.298", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P63151-1.298.298", "start_pos": 298, "end_pos": 298, "uniprot_canonical_ac": "P63151-1", "length": 447, "uniprot_id": "2ABA_HUMAN", "protein_name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform", "refseq_ac": "NP_001171062", "refseq_name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform isoform 2", "gene_name": "PPP2R2A", "gene_names_uniprotkb": "PPP2R2A", "gene_names_refseq": "B55ALPHA; B55A; B55; PPP2R2A; PR52A; PR55A; PR55alpha", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P63151", "url": "https://www.uniprot.org/uniprotkb/P63151" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P63151", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P63151", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RSFFSEIISSISDVKFSHSG", "down_seq": "YMMTRDYLSVKIWDLNMENR", "snv": [ { "evidence": [ { "id": "P63151", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P63151" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "26363810", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R298", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "252", "end_pos": "252" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "389", "end_pos": "389" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "400", "end_pos": "400" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "P63151-1.289.289", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P63151-1.389.389", "start_pos": 389, "end_pos": 389, "uniprot_canonical_ac": "P63151-1", "length": 447, "uniprot_id": "2ABA_HUMAN", "protein_name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform", "refseq_ac": "NP_001171062", "refseq_name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform isoform 2", "gene_name": "PPP2R2A", "gene_names_uniprotkb": "PPP2R2A", "gene_names_refseq": "B55ALPHA; B55A; B55; PPP2R2A; PR52A; PR55A; PR55alpha", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P63151", "url": "https://www.uniprot.org/uniprotkb/P63151" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P63151", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P63151", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FDRNTKRDITLEASRENNKP", "down_seq": "TVLKPRKVCASGKRKKDEIS", "snv": [ { "evidence": [ { "id": "P63151", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P63151" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "26370235", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R389", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "252", "end_pos": "252" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "389", "end_pos": "389" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "400", "end_pos": "400" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P63151-1.378.378", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P63151-1.400.400", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P63151-1.167.167", "start_pos": 167, "end_pos": 167, "uniprot_canonical_ac": "P63151-1", "length": 447, "uniprot_id": "2ABA_HUMAN", "protein_name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform", "refseq_ac": "NP_001171062", "refseq_name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform isoform 2", "gene_name": "PPP2R2A", "gene_names_uniprotkb": "PPP2R2A", "gene_names_refseq": "B55ALPHA; B55A; B55; PPP2R2A; PR52A; PR55A; PR55alpha", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P63151", "url": "https://www.uniprot.org/uniprotkb/P63151" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P63151-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63151-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "P63151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63151", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TTVTTLRVPVFRPMDLMVEA", "down_seq": "PRRIFANAHTYHINSISINS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P63151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63151" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser167" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "252", "end_pos": "252" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "389", "end_pos": "389" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "400", "end_pos": "400" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P63151-1.378.378", "start_pos": 378, "end_pos": 378, "uniprot_canonical_ac": "P63151-1", "length": 447, "uniprot_id": "2ABA_HUMAN", "protein_name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform", "refseq_ac": "NP_001171062", "refseq_name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform isoform 2", "gene_name": "PPP2R2A", "gene_names_uniprotkb": "PPP2R2A", "gene_names_refseq": "B55ALPHA; B55A; B55; PPP2R2A; PR52A; PR55A; PR55alpha", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P63151", "url": "https://www.uniprot.org/uniprotkb/P63151" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P63151-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63151-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "P63151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63151", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MTGSYNNFFRMFDRNTKRDI", "down_seq": "LEASRENNKPRTVLKPRKVC", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P63151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63151" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr378" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "252", "end_pos": "252" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "389", "end_pos": "389" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "400", "end_pos": "400" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "P63151-1.389.389", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P63151-1.400.400", "start_pos": 400, "end_pos": 400, "uniprot_canonical_ac": "P63151-1", "length": 447, "uniprot_id": "2ABA_HUMAN", "protein_name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform", "refseq_ac": "NP_001171062", "refseq_name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform isoform 2", "gene_name": "PPP2R2A", "gene_names_uniprotkb": "PPP2R2A", "gene_names_refseq": "B55ALPHA; B55A; B55; PPP2R2A; PR52A; PR55A; PR55alpha", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P63151", "url": "https://www.uniprot.org/uniprotkb/P63151" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Nuclear accumulation of HDAC4 in ATM deficiency promotes neurodegeneration in ataxia telangiectasia.", "journal": "Nature medicine", "date": "2012", "authors": "Li J, Chen J, Ricupero CL, Hart RP, Schwartz MS, Kusnecov A, Herrup K", "evidence": [ { "database": "iPTMnet", "id": "P63151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63151" } ], "reference": [ { "type": "PubMed", "id": "22466704", "url": "https://glygen.org/publication/PubMed/22466704" } ] } ], "crossref": [ { "id": "P63151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63151", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "22466704", "url": "https://glygen.org/publication/PubMed/22466704", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EASRENNKPRTVLKPRKVCA", "down_seq": "GKRKKDEISVDSLDFNKKIL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q13315-1", "kinase_gene_name": "ATM", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P63151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63151" }, { "database": "PubMed", "id": "22466704", "url": "https://glygen.org/publication/PubMed/22466704" } ], "site_lbl": "Ser400" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "252", "end_pos": "252" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "298", "end_pos": "298" }, { "start_pos": "389", "end_pos": "389" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "400", "end_pos": "400" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P63151-1.389.389", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IZ83-1.488.488", "start_pos": 488, "end_pos": 488, "uniprot_canonical_ac": "Q8IZ83-1", "length": 802, "uniprot_id": "A16A1_HUMAN", "protein_name": "Aldehyde dehydrogenase family 16 member A1", "refseq_ac": "NP_001138868", "refseq_name": "aldehyde dehydrogenase family 16 member A1 isoform 2", "gene_name": "ALDH16A1", "gene_names_uniprotkb": "ALDH16A1", "gene_names_refseq": "ALDH16A1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZ83", "url": "https://www.uniprot.org/uniprotkb/Q8IZ83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IZ83", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IZ83" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IZ83", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IZ83" }, { "database": "O-GlcNAc Atlas", "id": "Q8IZ83", "url": "https://oglcnac.org/atlas/detail/Q8IZ83" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] } ], "crossref": [ { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IZ83", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IZ83", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IZ83", "url": "https://oglcnac.org/atlas/detail/Q8IZ83", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q8IZ83", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IZ83", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1370849901", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370849901", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1370849901", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1370849901", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1370849901", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1370849901", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KESGCSWHGGPDGLYEYLRP", "down_seq": "GTPARLSCLSKNLNYDTFGL", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser488", "evidence": [ { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "Q8IZ83", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IZ83" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "Q8IZ83", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IZ83" } ] } ], "snv": [ { "evidence": [ { "id": "Q8IZ83", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IZ83" }, { "id": "rs1370849901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370849901" }, { "id": "rs1370849901", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1370849901" }, { "id": "rs1370849901", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1370849901" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->L).", "chr_id": "19", "chr_pos": "49464657", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S488", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "69", "end_pos": "69" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8IZ83-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8IZ83-1.490.490", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8IZ83-1.502.502", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IZ83-1.490.490", "start_pos": 490, "end_pos": 490, "uniprot_canonical_ac": "Q8IZ83-1", "length": 802, "uniprot_id": "A16A1_HUMAN", "protein_name": "Aldehyde dehydrogenase family 16 member A1", "refseq_ac": "NP_001138868", "refseq_name": "aldehyde dehydrogenase family 16 member A1 isoform 2", "gene_name": "ALDH16A1", "gene_names_uniprotkb": "ALDH16A1", "gene_names_refseq": "ALDH16A1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZ83", "url": "https://www.uniprot.org/uniprotkb/Q8IZ83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs1027691405", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1027691405", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1027691405", "url": "https://www.ensembl.org/id/rs1027691405", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SGCSWHGGPDGLYEYLRPSG", "down_seq": "PARLSCLSKNLNYDTFGLAV", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr490", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1027691405", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1027691405" }, { "id": "rs1027691405", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1027691405" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "19", "chr_pos": "49464662", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T490", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "69", "end_pos": "69" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8IZ83-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8IZ83-1.488.488", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q8IZ83-1.502.502", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IZ83-1.751.751", "start_pos": 751, "end_pos": 751, "uniprot_canonical_ac": "Q8IZ83-1", "length": 802, "uniprot_id": "A16A1_HUMAN", "protein_name": "Aldehyde dehydrogenase family 16 member A1", "refseq_ac": "NP_001138868", "refseq_name": "aldehyde dehydrogenase family 16 member A1 isoform 2", "gene_name": "ALDH16A1", "gene_names_uniprotkb": "ALDH16A1", "gene_names_refseq": "ALDH16A1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZ83", "url": "https://www.uniprot.org/uniprotkb/Q8IZ83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] } ], "crossref": [ { "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RCLALHQDVQAMWYFGSAQG", "down_seq": "QFVEWASAGNLKPVWASRGC", "glycosylation": [ { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser751", "evidence": [ { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "69", "end_pos": "69" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IZ83-1.13.13", "start_pos": 13, "end_pos": 13, "uniprot_canonical_ac": "Q8IZ83-1", "length": 802, "uniprot_id": "A16A1_HUMAN", "protein_name": "Aldehyde dehydrogenase family 16 member A1", "refseq_ac": "NP_001138868", "refseq_name": "aldehyde dehydrogenase family 16 member A1 isoform 2", "gene_name": "ALDH16A1", "gene_names_uniprotkb": "ALDH16A1", "gene_names_refseq": "ALDH16A1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZ83", "url": "https://www.uniprot.org/uniprotkb/Q8IZ83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs983251311", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs983251311", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs983251311", "url": "https://www.ncbi.nlm.nih.gov/snp/rs983251311#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "MAATRAGPRARE", "down_seq": "FTSLEYGPVPESHACALAWL", "snv": [ { "evidence": [ { "id": "rs983251311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs983251311" }, { "id": "rs983251311", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs983251311#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IFT->NFT).", "chr_id": "19", "chr_pos": "49453369", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I13", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "69", "end_pos": "69" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q8IZ83-1.26.26", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IZ83-1.227.227", "start_pos": 227, "end_pos": 227, "uniprot_canonical_ac": "Q8IZ83-1", "length": 802, "uniprot_id": "A16A1_HUMAN", "protein_name": "Aldehyde dehydrogenase family 16 member A1", "refseq_ac": "NP_001138868", "refseq_name": "aldehyde dehydrogenase family 16 member A1 isoform 2", "gene_name": "ALDH16A1", "gene_names_uniprotkb": "ALDH16A1", "gene_names_refseq": "ALDH16A1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZ83", "url": "https://www.uniprot.org/uniprotkb/Q8IZ83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IZ83", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IZ83", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "PLLLAQLAGELGPFPGILNV", "down_seq": "SGPASLVPILASQPGIRKVA", "snv": [ { "evidence": [ { "id": "Q8IZ83", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IZ83" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "8", "frequency": "0.2", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "49461720", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L227", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "69", "end_pos": "69" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IZ83-1.256.256", "start_pos": 256, "end_pos": 256, "uniprot_canonical_ac": "Q8IZ83-1", "length": 802, "uniprot_id": "A16A1_HUMAN", "protein_name": "Aldehyde dehydrogenase family 16 member A1", "refseq_ac": "NP_001138868", "refseq_name": "aldehyde dehydrogenase family 16 member A1 isoform 2", "gene_name": "ALDH16A1", "gene_names_uniprotkb": "ALDH16A1", "gene_names_refseq": "ALDH16A1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZ83", "url": "https://www.uniprot.org/uniprotkb/Q8IZ83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IZ83", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IZ83", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ILASQPGIRKVAFCGAPEEG", "down_seq": "ALRRSLAGECAELGLALGTE", "snv": [ { "evidence": [ { "id": "Q8IZ83", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IZ83" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "49461890", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R256", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "69", "end_pos": "69" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IZ83-1.26.26", "start_pos": 26, "end_pos": 26, "uniprot_canonical_ac": "Q8IZ83-1", "length": 802, "uniprot_id": "A16A1_HUMAN", "protein_name": "Aldehyde dehydrogenase family 16 member A1", "refseq_ac": "NP_001138868", "refseq_name": "aldehyde dehydrogenase family 16 member A1 isoform 2", "gene_name": "ALDH16A1", "gene_names_uniprotkb": "ALDH16A1", "gene_names_refseq": "ALDH16A1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZ83", "url": "https://www.uniprot.org/uniprotkb/Q8IZ83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs766834756", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766834756", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766834756", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766834756", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766834756", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766834756#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs766834756", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766834756", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs766834756", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs766834756", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "AGPRAREIFTSLEYGPVPES", "down_seq": "ACALAWLDTQDRCLGHYVNG", "snv": [ { "evidence": [ { "id": "rs766834756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766834756" }, { "id": "rs766834756", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766834756" }, { "id": "rs766834756", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766834756#frequency_tab" }, { "id": "rs766834756", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766834756" }, { "id": "rs766834756", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs766834756" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HAC->NAC).", "chr_id": "19", "chr_pos": "49453407", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H26", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "69", "end_pos": "69" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8IZ83-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8IZ83-1.37.37", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IZ83-1.334.334", "start_pos": 334, "end_pos": 334, "uniprot_canonical_ac": "Q8IZ83-1", "length": 802, "uniprot_id": "A16A1_HUMAN", "protein_name": "Aldehyde dehydrogenase family 16 member A1", "refseq_ac": "NP_001138868", "refseq_name": "aldehyde dehydrogenase family 16 member A1 isoform 2", "gene_name": "ALDH16A1", "gene_names_uniprotkb": "ALDH16A1", "gene_names_refseq": "ALDH16A1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZ83", "url": "https://www.uniprot.org/uniprotkb/Q8IZ83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IZ83", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IZ83", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SVWDEAMRRLQERMGRLRSG", "down_seq": "GLDGAVDMGARGAAACDLVQ", "snv": [ { "evidence": [ { "id": "Q8IZ83", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IZ83" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "19", "chr_pos": "49462658", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R334", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "69", "end_pos": "69" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IZ83-1.37.37", "start_pos": 37, "end_pos": 37, "uniprot_canonical_ac": "Q8IZ83-1", "length": 802, "uniprot_id": "A16A1_HUMAN", "protein_name": "Aldehyde dehydrogenase family 16 member A1", "refseq_ac": "NP_001138868", "refseq_name": "aldehyde dehydrogenase family 16 member A1 isoform 2", "gene_name": "ALDH16A1", "gene_names_uniprotkb": "ALDH16A1", "gene_names_refseq": "ALDH16A1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZ83", "url": "https://www.uniprot.org/uniprotkb/Q8IZ83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs760236973", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760236973", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs760236973", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760236973", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs760236973", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760236973", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LEYGPVPESHACALAWLDTQ", "down_seq": "RCLGHYVNGKWLKPEHRNSV", "snv": [ { "evidence": [ { "id": "rs760236973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760236973" }, { "id": "rs760236973", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760236973" }, { "id": "rs760236973", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760236973" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DRC->NRC).", "chr_id": "19", "chr_pos": "49458504", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D37", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "69", "end_pos": "69" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8IZ83-1.26.26", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IZ83-1.389.389", "start_pos": 389, "end_pos": 389, "uniprot_canonical_ac": "Q8IZ83-1", "length": 802, "uniprot_id": "A16A1_HUMAN", "protein_name": "Aldehyde dehydrogenase family 16 member A1", "refseq_ac": "NP_001138868", "refseq_name": "aldehyde dehydrogenase family 16 member A1 isoform 2", "gene_name": "ALDH16A1", "gene_names_uniprotkb": "ALDH16A1", "gene_names_refseq": "ALDH16A1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZ83", "url": "https://www.uniprot.org/uniprotkb/Q8IZ83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1238538655", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1238538655", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1238538655", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1238538655", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "QAGDVPSERPFYPPTLVSNL", "down_seq": "PASPCAQVEVPWPVVVASPF", "snv": [ { "evidence": [ { "id": "rs1238538655", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1238538655" }, { "id": "rs1238538655", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1238538655" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "19", "chr_pos": "49463920", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P389", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "69", "end_pos": "69" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "Q8IZ83-1.405.405", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IZ83-1.405.405", "start_pos": 405, "end_pos": 405, "uniprot_canonical_ac": "Q8IZ83-1", "length": 802, "uniprot_id": "A16A1_HUMAN", "protein_name": "Aldehyde dehydrogenase family 16 member A1", "refseq_ac": "NP_001138868", "refseq_name": "aldehyde dehydrogenase family 16 member A1 isoform 2", "gene_name": "ALDH16A1", "gene_names_uniprotkb": "ALDH16A1", "gene_names_refseq": "ALDH16A1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZ83", "url": "https://www.uniprot.org/uniprotkb/Q8IZ83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IZ83", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IZ83", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "VSNLPPASPCAQVEVPWPVV", "down_seq": "ASPFRTAKEALLVANGTPRG", "snv": [ { "evidence": [ { "id": "Q8IZ83", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IZ83" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "49464145", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V405", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "69", "end_pos": "69" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8IZ83-1.389.389", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IZ83-1.470.470", "start_pos": 470, "end_pos": 470, "uniprot_canonical_ac": "Q8IZ83-1", "length": 802, "uniprot_id": "A16A1_HUMAN", "protein_name": "Aldehyde dehydrogenase family 16 member A1", "refseq_ac": "NP_001138868", "refseq_name": "aldehyde dehydrogenase family 16 member A1 isoform 2", "gene_name": "ALDH16A1", "gene_names_uniprotkb": "ALDH16A1", "gene_names_refseq": "ALDH16A1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZ83", "url": "https://www.uniprot.org/uniprotkb/Q8IZ83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs140593990", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140593990", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs140593990", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140593990", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs140593990", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140593990#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs140593990", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140593990", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VWINAHGLRDPSVPTGGCKE", "down_seq": "GCSWHGGPDGLYEYLRPSGT", "snv": [ { "evidence": [ { "id": "rs140593990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140593990" }, { "id": "rs140593990", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140593990" }, { "id": "rs140593990", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140593990#frequency_tab" }, { "id": "rs140593990", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140593990" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SGC->NGC).", "chr_id": "19", "chr_pos": "49464494", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S470", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "69", "end_pos": "69" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "Q8IZ83-1.488.488", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8IZ83-1.490.490", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IZ83-1.502.502", "start_pos": 502, "end_pos": 502, "uniprot_canonical_ac": "Q8IZ83-1", "length": 802, "uniprot_id": "A16A1_HUMAN", "protein_name": "Aldehyde dehydrogenase family 16 member A1", "refseq_ac": "NP_001138868", "refseq_name": "aldehyde dehydrogenase family 16 member A1 isoform 2", "gene_name": "ALDH16A1", "gene_names_uniprotkb": "ALDH16A1", "gene_names_refseq": "ALDH16A1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZ83", "url": "https://www.uniprot.org/uniprotkb/Q8IZ83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs781377623", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781377623", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781377623", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781377623", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs781377623", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781377623", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "YEYLRPSGTPARLSCLSKNL", "down_seq": "YDTFGLAVPSTLPAGPEIGP", "snv": [ { "evidence": [ { "id": "rs781377623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781377623" }, { "id": "rs781377623", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781377623" }, { "id": "rs781377623", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781377623" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLN->NLS).", "chr_id": "19", "chr_pos": "49464699", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N502", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "69", "end_pos": "69" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8IZ83-1.488.488", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q8IZ83-1.490.490", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IZ83-1.535.535", "start_pos": 535, "end_pos": 535, "uniprot_canonical_ac": "Q8IZ83-1", "length": 802, "uniprot_id": "A16A1_HUMAN", "protein_name": "Aldehyde dehydrogenase family 16 member A1", "refseq_ac": "NP_001138868", "refseq_name": "aldehyde dehydrogenase family 16 member A1 isoform 2", "gene_name": "ALDH16A1", "gene_names_uniprotkb": "ALDH16A1", "gene_names_refseq": "ALDH16A1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZ83", "url": "https://www.uniprot.org/uniprotkb/Q8IZ83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IZ83", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IZ83", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PAGPEIGPSPAPPYGLFVGG", "down_seq": "FQAPGARSSRPIRDSSGNLH", "snv": [ { "evidence": [ { "id": "Q8IZ83", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IZ83" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "49465772", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R535", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "69", "end_pos": "69" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IZ83-1.603.603", "start_pos": 603, "end_pos": 603, "uniprot_canonical_ac": "Q8IZ83-1", "length": 802, "uniprot_id": "A16A1_HUMAN", "protein_name": "Aldehyde dehydrogenase family 16 member A1", "refseq_ac": "NP_001138868", "refseq_name": "aldehyde dehydrogenase family 16 member A1 isoform 2", "gene_name": "ALDH16A1", "gene_names_uniprotkb": "ALDH16A1", "gene_names_refseq": "ALDH16A1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZ83", "url": "https://www.uniprot.org/uniprotkb/Q8IZ83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1469910599", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469910599", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1469910599", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1469910599#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1469910599", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1469910599", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "QSPGARAALLWALAAALERR", "down_seq": "STLASRLERQGAELKAAEAE", "snv": [ { "evidence": [ { "id": "rs1469910599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469910599" }, { "id": "rs1469910599", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1469910599#frequency_tab" }, { "id": "rs1469910599", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1469910599" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KST->NST).", "chr_id": "19", "chr_pos": "49466154", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K603", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "69", "end_pos": "69" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IZ83-1.69.69", "start_pos": 69, "end_pos": 69, "uniprot_canonical_ac": "Q8IZ83-1", "length": 802, "uniprot_id": "A16A1_HUMAN", "protein_name": "Aldehyde dehydrogenase family 16 member A1", "refseq_ac": "NP_001138868", "refseq_name": "aldehyde dehydrogenase family 16 member A1 isoform 2", "gene_name": "ALDH16A1", "gene_names_uniprotkb": "ALDH16A1", "gene_names_refseq": "ALDH16A1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZ83", "url": "https://www.uniprot.org/uniprotkb/Q8IZ83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1230179662", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230179662", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1230179662", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1230179662", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LKPEHRNSVPCQDPITGENL", "down_seq": "SCLQAQAEDVAAAVEAARMA", "snv": [ { "evidence": [ { "id": "rs1230179662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230179662" }, { "id": "rs1230179662", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1230179662" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLS).", "chr_id": "19", "chr_pos": "49458971", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A69", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "69", "end_pos": "69" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O43829-1.211.211", "start_pos": 211, "end_pos": 211, "uniprot_canonical_ac": "O43829-1", "length": 449, "uniprot_id": "ZBT14_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 14", "refseq_ac": "NP_001137295", "refseq_name": "zinc finger and BTB domain-containing protein 14", "gene_name": "ZBTB14", "gene_names_uniprotkb": "ZBTB14; ZFP161; ZNF478", "gene_names_refseq": "ZBTB14; ZF5; ZFP-161; ZFP-5; ZFP161; ZNF478", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43829", "url": "https://www.uniprot.org/uniprotkb/O43829" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O43829", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O43829", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PTTTLRVQEAILKELGSEEV", "down_seq": "KVNCYGQEVESMETPESKDL", "snv": [ { "evidence": [ { "id": "O43829", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O43829" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "18", "chr_pos": "5291577", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R211", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "82", "end_pos": "82" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O43829-1.82.82", "start_pos": 82, "end_pos": 82, "uniprot_canonical_ac": "O43829-1", "length": 449, "uniprot_id": "ZBT14_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 14", "refseq_ac": "NP_001137295", "refseq_name": "zinc finger and BTB domain-containing protein 14", "gene_name": "ZBTB14", "gene_names_uniprotkb": "ZBTB14; ZFP161; ZNF478", "gene_names_refseq": "ZBTB14; ZF5; ZFP-161; ZFP-5; ZFP161; ZNF478", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43829", "url": "https://www.uniprot.org/uniprotkb/O43829" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O43829", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O43829", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KKLFKKLEVDSSSVIEIDFL", "down_seq": "SDIFEEVLNYMYTAKISVKK", "snv": [ { "evidence": [ { "id": "O43829", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O43829" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "18", "chr_pos": "5291964", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R82", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "211", "end_pos": "211" }, { "start_pos": "82", "end_pos": "82" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NYF3-1.128.128", "start_pos": 128, "end_pos": 128, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NYF3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NYF3" }, { "database": "O-GlcNAc Atlas", "id": "Q9NYF3", "url": "https://oglcnac.org/atlas/detail/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NYF3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NYF3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NYF3", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NYF3", "url": "https://oglcnac.org/atlas/detail/Q9NYF3", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1761129981", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1761129981", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1761129981", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1761129981", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VPPAPPSKRHCRSLSVPVDL", "down_seq": "RWQPVWRPAPSKLWTPIKHR", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser128", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q9NYF3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NYF3" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "Q9NYF3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9NYF3" } ] } ], "snv": [ { "evidence": [ { "id": "rs1761129981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1761129981" }, { "id": "rs1761129981", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1761129981" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->P).", "chr_id": "5", "chr_pos": "138345070", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S128", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9NYF3-1.122.122", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NYF3-1.126.126", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NYF3-1.126.126", "start_pos": 126, "end_pos": 126, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NYF3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NYF3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LPVPPAPPSKRHCRSLSVPV", "down_seq": "LSRWQPVWRPAPSKLWTPIK", "snv": [ { "evidence": [ { "id": "Q9NYF3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NYF3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "5", "chr_pos": "138345064", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D126", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9NYF3-1.122.122", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NYF3-1.128.128", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NYF3-1.207.207", "start_pos": 207, "end_pos": 207, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NYF3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NYF3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "RPYSPPFFSLALAQDSSRPC", "down_seq": "ASPQSGSWESDAESLSPCPP", "snv": [ { "evidence": [ { "id": "Q9NYF3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NYF3" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "138345308", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A207", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9NYF3-1.190.190", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NYF3-1.212.212", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NYF3-1.212.212", "start_pos": 212, "end_pos": 212, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NYF3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NYF3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs867859023", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867859023", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs867859023", "url": "https://www.ensembl.org/id/rs867859023", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PFFSLALAQDSSRPCAASPQ", "down_seq": "GSWESDAESLSPCPPQRRFS", "snv": [ { "evidence": [ { "id": "Q9NYF3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NYF3" }, { "id": "rs867859023", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867859023" }, { "id": "rs867859023", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867859023" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "5", "chr_pos": "138345323", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S212", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9NYF3-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NYF3-1.232.232", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NYF3-1.261.261", "start_pos": 261, "end_pos": 261, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NYF3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NYF3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ASRFLPSARSSPASSPELPW", "down_seq": "PRGLRNLPRSRSQPCDLDAR", "snv": [ { "evidence": [ { "id": "Q9NYF3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NYF3" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "138345469", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R261", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9NYF3-1.242.242", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NYF3-1.250.250", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9NYF3-1.251.251", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NYF3-1.254.254", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NYF3-1.255.255", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NYF3-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NYF3-1.273.273", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NYF3-1.269.269", "start_pos": 269, "end_pos": 269, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NYF3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NYF3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1252338992", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252338992", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1252338992", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1252338992", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1252338992", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1252338992", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "RSSPASSPELPWRPRGLRNL", "down_seq": "RSRSQPCDLDARKTGVKRRH", "snv": [ { "evidence": [ { "id": "Q9NYF3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NYF3" }, { "id": "rs1252338992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252338992" }, { "id": "rs1252338992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1252338992" }, { "id": "rs1252338992", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1252338992" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "5", "chr_pos": "138345493", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P269", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1252338992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252338992" }, { "id": "rs1252338992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1252338992" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLT).", "chr_id": "5", "chr_pos": "138345493", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P269", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9NYF3-1.250.250", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NYF3-1.251.251", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NYF3-1.254.254", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NYF3-1.255.255", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NYF3-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NYF3-1.273.273", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NYF3-1.354.354", "start_pos": 354, "end_pos": 354, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs143642448", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143642448", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs143642448", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143642448#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs143642448", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143642448", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CSPPPLSASCSPTGGSSQVL", "down_seq": "ESEEEEEGAVRWGRQALSKR", "snv": [ { "evidence": [ { "id": "rs143642448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143642448" }, { "id": "rs143642448", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143642448#frequency_tab" }, { "id": "rs143642448", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143642448" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SES->NES).", "chr_id": "5", "chr_pos": "138346841", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S354", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NYF3-1.41.41", "start_pos": 41, "end_pos": 41, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1211913567", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211913567", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1211913567", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211913567", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "RFSISLPLPDHADISNCGNS", "down_seq": "QLVSEGASWRGLPHCSCAEF", "snv": [ { "evidence": [ { "id": "rs1211913567", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211913567" }, { "id": "rs1211913567", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211913567" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSF->NSS).", "chr_id": "5", "chr_pos": "138341852", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F41", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NYF3-1.87.87", "start_pos": 87, "end_pos": 87, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NYF3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NYF3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "FSYHPSGLSLHLRPPSRGNS", "down_seq": "KEQPFSQVLRPEPPDPEKLP", "snv": [ { "evidence": [ { "id": "Q9NYF3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NYF3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "5", "chr_pos": "138344947", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P87", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NYF3-1.122.122", "start_pos": 122, "end_pos": 122, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Exploring the human leukocyte phosphoproteome using a microfluidic reversed-phase-TiO2-reversed-phase high-performance liquid chromatography phosphochip coupled to a quadrupole time-of-flight mass spectrometer.", "journal": "Analytical chemistry", "date": "2010", "authors": "Raijmakers R, Kraiczek K, de Jong AP, Mohammed S, Heck AJ", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DPEKLPVPPAPPSKRHCRSL", "down_seq": "VPVDLSRWQPVWRPAPSKLW", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser122" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q9NYF3-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NYF3-1.128.128", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NYF3-1.162.162", "start_pos": 162, "end_pos": 162, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "WTPIKHRGSGGGGGPQVPHQ", "down_seq": "PPKRVSSLRFLQAPSASSQC", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "site_lbl": "Ser162" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NYF3-1.190.190", "start_pos": 190, "end_pos": 190, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Direct identification of clinically relevant neoepitopes presented on native human melanoma tissue by mass spectrometry.", "journal": "Nature communications", "date": "2016-11-21", "authors": "Bassani-Sternberg Michal, Br\u00e4unlein Eva, Klar Richard, Engleitner Thomas, Sinitcyn Pavel, Audehm Stefan, Straub Melanie, Weber Julia, Slotta-Huspenina Julia, Specht Katja, Martignoni Marc E, Werner Angelika, Hein R\u00fcdiger, H Busch Dirk, Peschel Christian, Rad Roland, Cox J\u00fcrgen, Mann Matthias, Krackhardt Angela M", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "27869121", "url": "https://glygen.org/publication/PubMed/27869121" } ] }, { "title": "An Integrated Genomic, Proteomic, and Immunopeptidomic Approach to Discover Treatment-Induced Neoantigens.", "journal": "Frontiers in immunology", "date": "2021", "authors": "Olsson Niclas, Heberling Marlene L, Zhang Lichao, Jhunjhunwala Suchit, Phung Qui T, Lin Sarah, Anania Veronica G, Lill Jennie R, Elias Joshua E", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" }, { "database": "IEDB", "id": "445858", "url": "https://www.iedb.org/epitope/445858" } ], "reference": [ { "type": "PubMed", "id": "33936100", "url": "https://glygen.org/publication/PubMed/33936100" } ] } ], "crossref": [ { "id": "Q9NYF3", "url": "https://www.iedb.org/epitope/Q9NYF3", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "27869121", "url": "https://glygen.org/publication/PubMed/27869121", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33936100", "url": "https://glygen.org/publication/PubMed/33936100", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LRFLQAPSASSQCAPAHRPY", "down_seq": "PPFFSLALAQDSSRPCAASP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q9NYF3", "url": "https://www.iedb.org/epitope/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" }, { "database": "PubMed", "id": "27869121", "url": "https://glygen.org/publication/PubMed/27869121" }, { "database": "PubMed", "id": "33936100", "url": "https://glygen.org/publication/PubMed/33936100" } ], "site_lbl": "Ser190" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q9NYF3-1.207.207", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NYF3-1.232.232", "start_pos": 232, "end_pos": 232, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SGSWESDAESLSPCPPQRRF", "down_seq": "LSPSLGPQASRFLPSARSSP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser232" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9NYF3-1.212.212", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NYF3-1.234.234", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NYF3-1.236.236", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NYF3-1.242.242", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NYF3-1.250.250", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NYF3-1.251.251", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NYF3-1.234.234", "start_pos": 234, "end_pos": 234, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] } ], "crossref": [ { "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SWESDAESLSPCPPQRRFSL", "down_seq": "PSLGPQASRFLPSARSSPAS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Ser234" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9NYF3-1.232.232", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NYF3-1.236.236", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NYF3-1.242.242", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9NYF3-1.250.250", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NYF3-1.251.251", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NYF3-1.254.254", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NYF3-1.236.236", "start_pos": 236, "end_pos": 236, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ESDAESLSPCPPQRRFSLSP", "down_seq": "LGPQASRFLPSARSSPASSP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser236" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9NYF3-1.232.232", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NYF3-1.234.234", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NYF3-1.242.242", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NYF3-1.250.250", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NYF3-1.251.251", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NYF3-1.254.254", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NYF3-1.255.255", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NYF3-1.242.242", "start_pos": 242, "end_pos": 242, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LSPCPPQRRFSLSPSLGPQA", "down_seq": "RFLPSARSSPASSPELPWRP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser242" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9NYF3-1.232.232", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NYF3-1.234.234", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NYF3-1.236.236", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9NYF3-1.250.250", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NYF3-1.251.251", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NYF3-1.254.254", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NYF3-1.255.255", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NYF3-1.261.261", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NYF3-1.250.250", "start_pos": 250, "end_pos": 250, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RFSLSPSLGPQASRFLPSAR", "down_seq": "SPASSPELPWRPRGLRNLPR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser250" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9NYF3-1.232.232", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9NYF3-1.234.234", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9NYF3-1.236.236", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9NYF3-1.242.242", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NYF3-1.251.251", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NYF3-1.254.254", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9NYF3-1.255.255", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NYF3-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NYF3-1.269.269", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NYF3-1.251.251", "start_pos": 251, "end_pos": 251, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FSLSPSLGPQASRFLPSARS", "down_seq": "PASSPELPWRPRGLRNLPRS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser251" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9NYF3-1.232.232", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9NYF3-1.234.234", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9NYF3-1.236.236", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NYF3-1.242.242", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NYF3-1.250.250", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NYF3-1.254.254", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NYF3-1.255.255", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NYF3-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NYF3-1.269.269", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NYF3-1.254.254", "start_pos": 254, "end_pos": 254, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SPSLGPQASRFLPSARSSPA", "down_seq": "SPELPWRPRGLRNLPRSRSQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser254" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9NYF3-1.234.234", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NYF3-1.236.236", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NYF3-1.242.242", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NYF3-1.250.250", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9NYF3-1.251.251", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NYF3-1.255.255", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NYF3-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9NYF3-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NYF3-1.273.273", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NYF3-1.255.255", "start_pos": 255, "end_pos": 255, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PSLGPQASRFLPSARSSPAS", "down_seq": "PELPWRPRGLRNLPRSRSQP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser255" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9NYF3-1.236.236", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NYF3-1.242.242", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9NYF3-1.250.250", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NYF3-1.251.251", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NYF3-1.254.254", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NYF3-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NYF3-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NYF3-1.273.273", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NYF3-1.273.273", "start_pos": 273, "end_pos": 273, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ASSPELPWRPRGLRNLPRSR", "down_seq": "QPCDLDARKTGVKRRHEEDP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser273" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9NYF3-1.254.254", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9NYF3-1.255.255", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NYF3-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NYF3-1.269.269", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NYF3-1.299.299", "start_pos": 299, "end_pos": 299, "uniprot_canonical_ac": "Q9NYF3-1", "length": 392, "uniprot_id": "FA53C_HUMAN", "protein_name": "Protein FAM53C", "refseq_ac": "NP_001129119", "refseq_name": "protein FAM53C isoform 1", "gene_name": "FAM53C", "gene_names_uniprotkb": "FAM53C; C5orf6", "gene_names_refseq": "C5orf6; FAM53C", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DARKTGVKRRHEEDPRRLRP", "down_seq": "LDFDKMNQKPYSGGLCLQET", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NYF3", "url": "https://www.uniprot.org/uniprotkb/Q9NYF3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9NYF3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NYF3" } ], "site_lbl": "Ser299" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] }, { "type": "snv", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "87", "end_pos": "87" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "255", "end_pos": "255" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "299", "end_pos": "299" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6P597-1.181.181", "start_pos": 181, "end_pos": 181, "uniprot_canonical_ac": "Q6P597-1", "length": 504, "uniprot_id": "KLC3_HUMAN", "protein_name": "Kinesin light chain 3", "refseq_ac": "NP_803136", "refseq_name": "kinesin light chain 3", "gene_name": "KLC3", "gene_names_uniprotkb": "KLC3; KLC2L; KLC2", "gene_names_refseq": "KLC2L; KLC2; KLC3; KLCt; KNS2B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P597", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P597", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "ESQQSESPPRRDSLASLFPS", "down_seq": "EEERKGPEAAGAAAAQQGGY", "snv": [ { "evidence": [ { "id": "Q6P597", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P597" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "45347498", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E181", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "181", "end_pos": "181" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "502", "end_pos": "502" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q6P597-1.173.173", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P597-1.206.206", "start_pos": 206, "end_pos": 206, "uniprot_canonical_ac": "Q6P597-1", "length": 504, "uniprot_id": "KLC3_HUMAN", "protein_name": "Kinesin light chain 3", "refseq_ac": "NP_803136", "refseq_name": "kinesin light chain 3", "gene_name": "KLC3", "gene_names_uniprotkb": "KLC3; KLC2L; KLC2", "gene_names_refseq": "KLC2L; KLC2; KLC3; KLCt; KNS2B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P597", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P597", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KGPEAAGAAAAQQGGYEIPA", "down_seq": "LRTLHNLVIQYAGQGRYEVA", "snv": [ { "evidence": [ { "id": "Q6P597", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P597" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "45347998", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R206", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "181", "end_pos": "181" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "502", "end_pos": "502" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q6P597-1.226.226", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P597-1.226.226", "start_pos": 226, "end_pos": 226, "uniprot_canonical_ac": "Q6P597-1", "length": 504, "uniprot_id": "KLC3_HUMAN", "protein_name": "Kinesin light chain 3", "refseq_ac": "NP_803136", "refseq_name": "kinesin light chain 3", "gene_name": "KLC3", "gene_names_uniprotkb": "KLC3; KLC2L; KLC2", "gene_names_refseq": "KLC2L; KLC2; KLC3; KLCt; KNS2B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P597", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P597", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "RLRTLHNLVIQYAGQGRYEV", "down_seq": "VPLCRQALEDLERSSGHCHP", "snv": [ { "evidence": [ { "id": "Q6P597", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P597" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "45348058", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A226", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "181", "end_pos": "181" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "502", "end_pos": "502" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q6P597-1.206.206", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P597-1.316.316", "start_pos": 316, "end_pos": 316, "uniprot_canonical_ac": "Q6P597-1", "length": 504, "uniprot_id": "KLC3_HUMAN", "protein_name": "Kinesin light chain 3", "refseq_ac": "NP_803136", "refseq_name": "kinesin light chain 3", "gene_name": "KLC3", "gene_names_uniprotkb": "KLC3; KLC2L; KLC2", "gene_names_refseq": "KLC2L; KLC2; KLC3; KLCt; KNS2B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P597", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P597", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NLAVLYGKRGRYREAEPLCQ", "down_seq": "ALEIREKVLGADHPDVAKQL", "snv": [ { "evidence": [ { "id": "Q6P597", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P597" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "45348899", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R316", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "181", "end_pos": "181" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "502", "end_pos": "502" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P597-1.84.84", "start_pos": 84, "end_pos": 84, "uniprot_canonical_ac": "Q6P597-1", "length": 504, "uniprot_id": "KLC3_HUMAN", "protein_name": "Kinesin light chain 3", "refseq_ac": "NP_803136", "refseq_name": "kinesin light chain 3", "gene_name": "KLC3", "gene_names_uniprotkb": "KLC3; KLC2L; KLC2", "gene_names_refseq": "KLC2L; KLC2; KLC3; KLCt; KNS2B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P597", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P597", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "LEEKQQVVSHSLEAIELGLG", "down_seq": "AQVLLALSAHVGALEAEKQR", "snv": [ { "evidence": [ { "id": "Q6P597", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P597" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "45345791", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E84", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "181", "end_pos": "181" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "502", "end_pos": "502" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P597-1.173.173", "start_pos": 173, "end_pos": 173, "uniprot_canonical_ac": "Q6P597-1", "length": 504, "uniprot_id": "KLC3_HUMAN", "protein_name": "Kinesin light chain 3", "refseq_ac": "NP_803136", "refseq_name": "kinesin light chain 3", "gene_name": "KLC3", "gene_names_uniprotkb": "KLC3; KLC2L; KLC2", "gene_names_refseq": "KLC2L; KLC2; KLC3; KLCt; KNS2B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LRQYDPPAESQQSESPPRRD", "down_seq": "LASLFPSEEEERKGPEAAGA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" } ], "site_lbl": "Ser173" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "181", "end_pos": "181" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "502", "end_pos": "502" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q6P597-1.181.181", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P597-1.466.466", "start_pos": 466, "end_pos": 466, "uniprot_canonical_ac": "Q6P597-1", "length": 504, "uniprot_id": "KLC3_HUMAN", "protein_name": "Kinesin light chain 3", "refseq_ac": "NP_803136", "refseq_name": "kinesin light chain 3", "gene_name": "KLC3", "gene_names_uniprotkb": "KLC3; KLC2L; KLC2", "gene_names_refseq": "KLC2L; KLC2; KLC3; KLCt; KNS2B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" }, { "database": "iPTMnet", "id": "Q6P597", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" }, { "database": "iPTMnet", "id": "Q6P597-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" }, { "database": "iPTMnet", "id": "Q6P597", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" }, { "database": "iPTMnet", "id": "Q6P597", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q6P597-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q6P597-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] } ], "crossref": [ { "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6P597", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LVSRLRGEAAAGAAGMKRAM", "down_seq": "LNTLNVDAPRAPGTQFPSWH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q6P597", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser466" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "181", "end_pos": "181" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "502", "end_pos": "502" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6P597-1.495.495", "start_pos": 495, "end_pos": 495, "uniprot_canonical_ac": "Q6P597-1", "length": 504, "uniprot_id": "KLC3_HUMAN", "protein_name": "Kinesin light chain 3", "refseq_ac": "NP_803136", "refseq_name": "kinesin light chain 3", "gene_name": "KLC3", "gene_names_uniprotkb": "KLC3; KLC2L; KLC2", "gene_names_refseq": "KLC2L; KLC2; KLC3; KLCt; KNS2B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" }, { "database": "iPTMnet", "id": "Q6P597-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q6P597", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PRAPGTQFPSWHLDKAPRTL", "down_seq": "ASTQDLSPH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6P597", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser495" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "181", "end_pos": "181" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "502", "end_pos": "502" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q6P597-1.498.498", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q6P597-1.502.502", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6P597-1.498.498", "start_pos": 498, "end_pos": 498, "uniprot_canonical_ac": "Q6P597-1", "length": 504, "uniprot_id": "KLC3_HUMAN", "protein_name": "Kinesin light chain 3", "refseq_ac": "NP_803136", "refseq_name": "kinesin light chain 3", "gene_name": "KLC3", "gene_names_uniprotkb": "KLC3; KLC2L; KLC2", "gene_names_refseq": "KLC2L; KLC2; KLC3; KLCt; KNS2B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" }, { "database": "iPTMnet", "id": "Q6P597", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] } ], "crossref": [ { "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6P597", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PGTQFPSWHLDKAPRTLSAS", "down_seq": "QDLSPH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q6P597", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597" } ], "site_lbl": "Thr498" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "181", "end_pos": "181" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "502", "end_pos": "502" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q6P597-1.495.495", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q6P597-1.502.502", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6P597-1.502.502", "start_pos": 502, "end_pos": 502, "uniprot_canonical_ac": "Q6P597-1", "length": 504, "uniprot_id": "KLC3_HUMAN", "protein_name": "Kinesin light chain 3", "refseq_ac": "NP_803136", "refseq_name": "kinesin light chain 3", "gene_name": "KLC3", "gene_names_uniprotkb": "KLC3; KLC2L; KLC2", "gene_names_refseq": "KLC2L; KLC2; KLC3; KLCt; KNS2B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" }, { "database": "iPTMnet", "id": "Q6P597", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" }, { "database": "iPTMnet", "id": "Q6P597-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" }, { "database": "iPTMnet", "id": "Q6P597", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Phosphoproteomic analysis of distinct tumor cell lines in response to nocodazole treatment.", "journal": "Proteomics", "date": "2009", "authors": "Nagano K, Shinkawa T, Mutoh H, Kondoh O, Morimoto S, Inomata N, Ashihara M, Ishii N, Aoki Y, Haramura M", "evidence": [ { "database": "iPTMnet", "id": "Q6P597-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597-1" } ], "reference": [ { "type": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ] } ], "crossref": [ { "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6P597", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FPSWHLDKAPRTLSASTQDL", "down_seq": "PH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6P597", "url": "https://www.uniprot.org/uniprotkb/Q6P597" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q6P597", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P597" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ], "site_lbl": "Ser502" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "181", "end_pos": "181" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "502", "end_pos": "502" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q6P597-1.495.495", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q6P597-1.498.498", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P14598-1.263.263", "start_pos": 263, "end_pos": 263, "uniprot_canonical_ac": "P14598-1", "length": 390, "uniprot_id": "NCF1_HUMAN", "protein_name": "Neutrophil cytosol factor 1", "refseq_ac": "NP_000256", "refseq_name": "neutrophil cytosol factor 1", "gene_name": "NCF1", "gene_names_uniprotkb": "NCF1; NOXO2; SH3PXD1A", "gene_names_refseq": "CGD1; NCF-1; NCF-47K; NCF1A; NCF1; NOXO2; SH3PXD1A; p47-phox; p47phox", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Binding of the PX domain of p47(phox) to phosphatidylinositol 3,4-bisphosphate and phosphatidic acid is masked by an intramolecular interaction.", "journal": "The EMBO journal", "date": "2002", "authors": "Karathanassis D, Stahelin RV, Bravo J, Perisic O, Pacold CM, Cho W, Williams RL", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "reference": [ { "type": "PubMed", "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722" } ] } ], "crossref": [ { "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "DEVSLLEGEAVEVIHKLLDG", "down_seq": "WVIRKDDVTGYFPSMYLQKS", "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Abolishes autoinhibition and promotes phospholipid binding.", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "PubMed", "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "133", "end_pos": "133" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "379", "end_pos": "379" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P14598-1.303.303", "start_pos": 303, "end_pos": 303, "uniprot_canonical_ac": "P14598-1", "length": 390, "uniprot_id": "NCF1_HUMAN", "protein_name": "Neutrophil cytosol factor 1", "refseq_ac": "NP_000256", "refseq_name": "neutrophil cytosol factor 1", "gene_name": "NCF1", "gene_names_uniprotkb": "NCF1; NOXO2; SH3PXD1A", "gene_names_refseq": "CGD1; NCF-1; NCF-47K; NCF1A; NCF1; NOXO2; SH3PXD1A; p47-phox; p47phox", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Binding of the PX domain of p47(phox) to phosphatidylinositol 3,4-bisphosphate and phosphatidic acid is masked by an intramolecular interaction.", "journal": "The EMBO journal", "date": "2002", "authors": "Karathanassis D, Stahelin RV, Bravo J, Perisic O, Pacold CM, Cho W, Williams RL", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "reference": [ { "type": "PubMed", "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722" } ] }, { "title": "Phosphorylation of p47phox sites by PKC alpha, beta II, delta, and zeta: effect on binding to p22phox and on NADPH oxidase activation.", "journal": "Biochemistry", "date": "2002", "authors": "Fontayne A, Dang PM, Gougerot-Pocidalo MA, El-Benna J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ] }, { "title": "The phosphorylation of the respiratory burst oxidase component p47phox during neutrophil activation. Phosphorylation of sites recognized by protein kinase C and by proline-directed kinases.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "el Benna J, Faust LP, Babior BM", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "8089108", "url": "https://glygen.org/publication/PubMed/8089108" } ] }, { "title": "Activation of the leukocyte NADPH oxidase by phorbol ester requires the phosphorylation of p47PHOX on serine 303 or 304.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Inanami O, Johnson JL, McAdara JK, Benna JE, Faust LR, Newburger PE, Babior BM", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "9545283", "url": "https://glygen.org/publication/PubMed/9545283" } ] } ], "crossref": [ { "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906", "database": "PubMed", "categories": [ "Other" ] }, { "id": "8089108", "url": "https://glygen.org/publication/PubMed/8089108", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P14598", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P14598", "database": "PRO", "categories": [ "Other" ] }, { "id": "9545283", "url": "https://glygen.org/publication/PubMed/9545283", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SGQDVSQAQRQIKRGAPPRR", "down_seq": "SIRNAHSIHQRSRKRLSQDA", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "E", "comment": "Abolishes autoinhibition and promotes phospholipid binding; when associated with E-304; E-328; E-359 and E-370.", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "PubMed", "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P05771-1", "kinase_gene_name": "PRKCB", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser303" }, { "kinase_uniprot_canonical_ac": "P17252-1", "kinase_gene_name": "PRKCA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser303" }, { "kinase_uniprot_canonical_ac": "Q05513-1", "kinase_gene_name": "PRKCZ", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser303" }, { "kinase_uniprot_canonical_ac": "Q05655-1", "kinase_gene_name": "PRKCD", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser303" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "PubMed", "id": "8089108", "url": "https://glygen.org/publication/PubMed/8089108" }, { "database": "PRO", "id": "P14598", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P14598" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "9545283", "url": "https://glygen.org/publication/PubMed/9545283" } ], "site_lbl": "Ser303" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "133", "end_pos": "133" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "379", "end_pos": "379" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P14598-1.288.288", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P14598-1.304.304", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P14598-1.310.310", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P14598-1.315.315", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P14598-1.320.320", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P14598-1.304.304", "start_pos": 304, "end_pos": 304, "uniprot_canonical_ac": "P14598-1", "length": 390, "uniprot_id": "NCF1_HUMAN", "protein_name": "Neutrophil cytosol factor 1", "refseq_ac": "NP_000256", "refseq_name": "neutrophil cytosol factor 1", "gene_name": "NCF1", "gene_names_uniprotkb": "NCF1; NOXO2; SH3PXD1A", "gene_names_refseq": "CGD1; NCF-1; NCF-47K; NCF1A; NCF1; NOXO2; SH3PXD1A; p47-phox; p47phox", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Binding of the PX domain of p47(phox) to phosphatidylinositol 3,4-bisphosphate and phosphatidic acid is masked by an intramolecular interaction.", "journal": "The EMBO journal", "date": "2002", "authors": "Karathanassis D, Stahelin RV, Bravo J, Perisic O, Pacold CM, Cho W, Williams RL", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "reference": [ { "type": "PubMed", "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722" } ] }, { "title": "Phosphorylation of p47phox sites by PKC alpha, beta II, delta, and zeta: effect on binding to p22phox and on NADPH oxidase activation.", "journal": "Biochemistry", "date": "2002", "authors": "Fontayne A, Dang PM, Gougerot-Pocidalo MA, El-Benna J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ] }, { "title": "Akt phosphorylates p47phox and mediates respiratory burst activity in human neutrophils.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2003", "authors": "Chen Q, Powell DW, Rane MJ, Singh S, Butt W, Klein JB, McLeish KR", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "12734380", "url": "https://glygen.org/publication/PubMed/12734380" } ] }, { "title": "Mechanism for phosphorylation-induced activation of the phagocyte NADPH oxidase protein p47(phox). Triple replacement of serines 303, 304, and 328 with aspartates disrupts the SH3 domain-mediated intramolecular interaction in p47(phox), thereby activating the oxidase.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Ago T, Nunoi H, Ito T, Sumimoto H", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "10559253", "url": "https://glygen.org/publication/PubMed/10559253" } ] }, { "title": "The phosphorylation of the respiratory burst oxidase component p47phox during neutrophil activation. Phosphorylation of sites recognized by protein kinase C and by proline-directed kinases.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "el Benna J, Faust LP, Babior BM", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "8089108", "url": "https://glygen.org/publication/PubMed/8089108" } ] }, { "title": "Lipopolysaccharide-induced cytokine expression in alveolar epithelial cells: role of PKCzeta-mediated p47phox phosphorylation.", "journal": "Chemico-biological interactions", "date": "2011", "authors": "Leverence JT, Medhora M, Konduri GG, Sampath V", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "20920494", "url": "https://glygen.org/publication/PubMed/20920494" } ] }, { "title": "Phosphorylation of p47phox is required for receptor-mediated NADPH oxidase/NOX2 activation in Epstein-Barr virus-transformed human B lymphocytes.", "journal": "American journal of blood research", "date": "2012", "authors": "Belambri SA, Hurtado-Nedelec M, Senator A, Makni-Maalej K, Fay M, Gougerot-Pocidalo MA, Marie JC, Dang PM, El-Benna J", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "23119229", "url": "https://glygen.org/publication/PubMed/23119229" } ] }, { "title": "Interleukin-27 Enhances the Potential of Reactive Oxygen Species Generation from Monocyte-derived Macrophages and Dendritic cells by Induction of p47phox.", "journal": "Scientific reports", "date": "2017-02-27", "authors": "Sowrirajan Bharatwaj, Saito Yoshiro, Poudyal Deepak, Chen Qian, Sui Hongyan, DeRavin Suk See, Imamichi Hiromi, Sato Toyotaka, Kuhns Douglas B, Noguchi Noriko, Malech Harry L, Lane H Clifford, Imamichi Tomozumi", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "28240310", "url": "https://glygen.org/publication/PubMed/28240310" } ] }, { "title": "Impaired p47phox phosphorylation in neutrophils from patients with p67phox-deficient chronic granulomatous disease.", "journal": "Blood", "date": "2022", "authors": "Belambri SA, Marzaioli V, Hurtado-Nedelec M, Pintard C, Liang S, Liu Y, Boussetta T, Gougerot-Pocidalo MA, Ye RD, Dang PM, El-Benna J", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "35108370", "url": "https://glygen.org/publication/PubMed/35108370" } ] }, { "title": "Activation of the leukocyte NADPH oxidase by phorbol ester requires the phosphorylation of p47PHOX on serine 303 or 304.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Inanami O, Johnson JL, McAdara JK, Benna JE, Faust LR, Newburger PE, Babior BM", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "9545283", "url": "https://glygen.org/publication/PubMed/9545283" } ] } ], "crossref": [ { "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12734380", "url": "https://glygen.org/publication/PubMed/12734380", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10559253", "url": "https://glygen.org/publication/PubMed/10559253", "database": "PubMed", "categories": [ "Other" ] }, { "id": "8089108", "url": "https://glygen.org/publication/PubMed/8089108", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P14598", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P14598", "database": "PRO", "categories": [ "Other" ] }, { "id": "20920494", "url": "https://glygen.org/publication/PubMed/20920494", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23119229", "url": "https://glygen.org/publication/PubMed/23119229", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28240310", "url": "https://glygen.org/publication/PubMed/28240310", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35108370", "url": "https://glygen.org/publication/PubMed/35108370", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9545283", "url": "https://glygen.org/publication/PubMed/9545283", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GQDVSQAQRQIKRGAPPRRS", "down_seq": "IRNAHSIHQRSRKRLSQDAY", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "E", "comment": "Abolishes autoinhibition and promotes phospholipid binding; when associated with E-303; E-328; E-359 and E-370.", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "PubMed", "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P05771-1", "kinase_gene_name": "PRKCB", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser304" }, { "kinase_uniprot_canonical_ac": "P17252-1", "kinase_gene_name": "PRKCA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser304" }, { "kinase_uniprot_canonical_ac": "P31749-1", "kinase_gene_name": "AKT1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12734380", "url": "https://glygen.org/publication/PubMed/12734380" }, { "database": "PubMed", "id": "10559253", "url": "https://glygen.org/publication/PubMed/10559253" } ], "site_lbl": "Ser304" }, { "kinase_uniprot_canonical_ac": "Q05513-1", "kinase_gene_name": "PRKCZ", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser304" }, { "kinase_uniprot_canonical_ac": "Q05655-1", "kinase_gene_name": "PRKCD", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser304" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "PubMed", "id": "8089108", "url": "https://glygen.org/publication/PubMed/8089108" }, { "database": "PRO", "id": "P14598", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P14598" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "20920494", "url": "https://glygen.org/publication/PubMed/20920494" }, { "database": "PubMed", "id": "23119229", "url": "https://glygen.org/publication/PubMed/23119229" }, { "database": "PubMed", "id": "28240310", "url": "https://glygen.org/publication/PubMed/28240310" }, { "database": "PubMed", "id": "35108370", "url": "https://glygen.org/publication/PubMed/35108370" }, { "database": "PubMed", "id": "9545283", "url": "https://glygen.org/publication/PubMed/9545283" } ], "site_lbl": "Ser304" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "133", "end_pos": "133" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "379", "end_pos": "379" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P14598-1.288.288", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P14598-1.303.303", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P14598-1.310.310", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P14598-1.315.315", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P14598-1.320.320", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 10 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P14598-1.328.328", "start_pos": 328, "end_pos": 328, "uniprot_canonical_ac": "P14598-1", "length": 390, "uniprot_id": "NCF1_HUMAN", "protein_name": "Neutrophil cytosol factor 1", "refseq_ac": "NP_000256", "refseq_name": "neutrophil cytosol factor 1", "gene_name": "NCF1", "gene_names_uniprotkb": "NCF1; NOXO2; SH3PXD1A", "gene_names_refseq": "CGD1; NCF-1; NCF-47K; NCF1A; NCF1; NOXO2; SH3PXD1A; p47-phox; p47phox", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Binding of the PX domain of p47(phox) to phosphatidylinositol 3,4-bisphosphate and phosphatidic acid is masked by an intramolecular interaction.", "journal": "The EMBO journal", "date": "2002", "authors": "Karathanassis D, Stahelin RV, Bravo J, Perisic O, Pacold CM, Cho W, Williams RL", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "reference": [ { "type": "PubMed", "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722" } ] }, { "title": "Phosphorylation of p47phox sites by PKC alpha, beta II, delta, and zeta: effect on binding to p22phox and on NADPH oxidase activation.", "journal": "Biochemistry", "date": "2002", "authors": "Fontayne A, Dang PM, Gougerot-Pocidalo MA, El-Benna J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ] }, { "title": "Akt phosphorylates p47phox and mediates respiratory burst activity in human neutrophils.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2003", "authors": "Chen Q, Powell DW, Rane MJ, Singh S, Butt W, Klein JB, McLeish KR", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "12734380", "url": "https://glygen.org/publication/PubMed/12734380" } ] }, { "title": "Mechanism for phosphorylation-induced activation of the phagocyte NADPH oxidase protein p47(phox). Triple replacement of serines 303, 304, and 328 with aspartates disrupts the SH3 domain-mediated intramolecular interaction in p47(phox), thereby activating the oxidase.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Ago T, Nunoi H, Ito T, Sumimoto H", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "10559253", "url": "https://glygen.org/publication/PubMed/10559253" } ] }, { "title": "The phosphorylation of the respiratory burst oxidase component p47phox during neutrophil activation. Phosphorylation of sites recognized by protein kinase C and by proline-directed kinases.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "el Benna J, Faust LP, Babior BM", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "8089108", "url": "https://glygen.org/publication/PubMed/8089108" } ] }, { "title": "Zymosan induces NADPH oxidase activation in human neutrophils by inducing the phosphorylation of p47phox and the activation of Rac2: involvement of protein tyrosine kinases, PI3Kinase, PKC, ERK1/2 and p38MAPkinase.", "journal": "Biochemical pharmacology", "date": "2013", "authors": "Makni-Maalej K, Chiandotto M, Hurtado-Nedelec M, Bedouhene S, Gougerot-Pocidalo MA, Dang PM, El-Benna J", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "23085266", "url": "https://glygen.org/publication/PubMed/23085266" } ] }, { "title": "Phosphorylation of p47phox is required for receptor-mediated NADPH oxidase/NOX2 activation in Epstein-Barr virus-transformed human B lymphocytes.", "journal": "American journal of blood research", "date": "2012", "authors": "Belambri SA, Hurtado-Nedelec M, Senator A, Makni-Maalej K, Fay M, Gougerot-Pocidalo MA, Marie JC, Dang PM, El-Benna J", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "23119229", "url": "https://glygen.org/publication/PubMed/23119229" } ] }, { "title": "Anvillea garcinii extract inhibits the oxidative burst of primary human neutrophils.", "journal": "BMC complementary and alternative medicine", "date": "2016-11-03", "authors": "Boukemara Hanane, Hurtado-Nedelec Margarita, Marzaioli Viviana, Bendjeddou Dalila, El Benna Jamel, Marie Jean-Claude", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "27809835", "url": "https://glygen.org/publication/PubMed/27809835" } ] }, { "title": "Diaphragm Abnormalities in Patients with End-Stage Heart Failure: NADPH Oxidase Upregulation and Protein Oxidation.", "journal": "Frontiers in physiology", "date": "2016", "authors": "Ahn Bumsoo, Coblentz Philip D, Beharry Adam W, Patel Nikhil, Judge Andrew R, Moylan Jennifer S, Hoopes Charles W, Bonnell Mark R, Ferreira Leonardo F", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "28119629", "url": "https://glygen.org/publication/PubMed/28119629" } ] }, { "title": "Interleukin-27 Enhances the Potential of Reactive Oxygen Species Generation from Monocyte-derived Macrophages and Dendritic cells by Induction of p47phox.", "journal": "Scientific reports", "date": "2017-02-27", "authors": "Sowrirajan Bharatwaj, Saito Yoshiro, Poudyal Deepak, Chen Qian, Sui Hongyan, DeRavin Suk See, Imamichi Hiromi, Sato Toyotaka, Kuhns Douglas B, Noguchi Noriko, Malech Harry L, Lane H Clifford, Imamichi Tomozumi", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "28240310", "url": "https://glygen.org/publication/PubMed/28240310" } ] }, { "title": "Inter-alpha inhibitor proteins maintain neutrophils in a resting state by regulating shape and reducing ROS production.", "journal": "Blood advances", "date": "2018", "authors": "Htwe SS, Wake H, Liu K, Teshigawara K, Stonestreet BS, Lim YP, Nishibori M", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "30093530", "url": "https://glygen.org/publication/PubMed/30093530" } ] }, { "title": "Eugenol prevents fMLF-induced superoxide anion production in human neutrophils by inhibiting ERK1/2 signaling pathway and p47phox phosphorylation.", "journal": "Scientific reports", "date": "2019-12-06", "authors": "Chniguir Amina, Pintard Coralie, Liu Dan, Dang Pham My-Chan, El-Benna Jamel, Bachoual Rafik", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "31811262", "url": "https://glygen.org/publication/PubMed/31811262" } ] }, { "title": "Class I phosphoinositide 3-kinases control sustained NADPH oxidase activation in adherent neutrophils.", "journal": "Biochemical pharmacology", "date": "2020-08", "authors": "Song Zhimin, Hudik Elodie, Le Bars Romain, Roux Blandine, Dang Pham My-Chan, El Benna Jamel, N\u00fcsse Oliver, Dupr\u00e9-Crochet Sophie", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "32531347", "url": "https://glygen.org/publication/PubMed/32531347" } ] }, { "title": "The Modulation of NADPH Oxidase Activity in Human Neutrophils by Moroccan Strains of Leishmania major and Leishmania tropica Is Not Associated with p47phox Phosphorylation.", "journal": "Microorganisms", "date": "2021-05-10", "authors": "Maksouri Hasnaa, Darif Dounia, Estaquier Jerome, Riyad Myriam, Desterke Christophe, Lemrani Meryem, Dang Pham My-Chan, Akarid Khadija", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "34068760", "url": "https://glygen.org/publication/PubMed/34068760" } ] }, { "title": "Impaired p47phox phosphorylation in neutrophils from patients with p67phox-deficient chronic granulomatous disease.", "journal": "Blood", "date": "2022", "authors": "Belambri SA, Marzaioli V, Hurtado-Nedelec M, Pintard C, Liang S, Liu Y, Boussetta T, Gougerot-Pocidalo MA, Ye RD, Dang PM, El-Benna J", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "35108370", "url": "https://glygen.org/publication/PubMed/35108370" } ] }, { "title": "Functional domain in an arginine-rich carboxyl-terminal region of p47phox.", "journal": "The Journal of biological chemistry", "date": "1993-11-05", "authors": "Nauseef W M, McCormick S, Renee J, Leidal K G, Clark R A", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "8226891", "url": "https://glygen.org/publication/PubMed/8226891" } ] } ], "crossref": [ { "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12734380", "url": "https://glygen.org/publication/PubMed/12734380", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10559253", "url": "https://glygen.org/publication/PubMed/10559253", "database": "PubMed", "categories": [ "Other" ] }, { "id": "8089108", "url": "https://glygen.org/publication/PubMed/8089108", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P14598", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P14598", "database": "PRO", "categories": [ "Other" ] }, { "id": "23085266", "url": "https://glygen.org/publication/PubMed/23085266", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23119229", "url": "https://glygen.org/publication/PubMed/23119229", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27809835", "url": "https://glygen.org/publication/PubMed/27809835", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28119629", "url": "https://glygen.org/publication/PubMed/28119629", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28240310", "url": "https://glygen.org/publication/PubMed/28240310", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30093530", "url": "https://glygen.org/publication/PubMed/30093530", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31811262", "url": "https://glygen.org/publication/PubMed/31811262", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32531347", "url": "https://glygen.org/publication/PubMed/32531347", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34068760", "url": "https://glygen.org/publication/PubMed/34068760", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35108370", "url": "https://glygen.org/publication/PubMed/35108370", "database": "PubMed", "categories": [ "Other" ] }, { "id": "8226891", "url": "https://glygen.org/publication/PubMed/8226891", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AHSIHQRSRKRLSQDAYRRN", "down_seq": "VRFLQQRRRQARPGPQSPGS", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "E", "comment": "Abolishes autoinhibition and promotes phospholipid binding; when associated with E-303; E-304; E-359 and E-370.", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "PubMed", "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P05771-1", "kinase_gene_name": "PRKCB", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser328" }, { "kinase_uniprot_canonical_ac": "P17252-1", "kinase_gene_name": "PRKCA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser328" }, { "kinase_uniprot_canonical_ac": "P31749-1", "kinase_gene_name": "AKT1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12734380", "url": "https://glygen.org/publication/PubMed/12734380" }, { "database": "PubMed", "id": "10559253", "url": "https://glygen.org/publication/PubMed/10559253" } ], "site_lbl": "Ser328" }, { "kinase_uniprot_canonical_ac": "Q05513-1", "kinase_gene_name": "PRKCZ", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser328" }, { "kinase_uniprot_canonical_ac": "Q05655-1", "kinase_gene_name": "PRKCD", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser328" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "PubMed", "id": "8089108", "url": "https://glygen.org/publication/PubMed/8089108" }, { "database": "PRO", "id": "P14598", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P14598" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "23085266", "url": "https://glygen.org/publication/PubMed/23085266" }, { "database": "PubMed", "id": "23119229", "url": "https://glygen.org/publication/PubMed/23119229" }, { "database": "PubMed", "id": "27809835", "url": "https://glygen.org/publication/PubMed/27809835" }, { "database": "PubMed", "id": "28119629", "url": "https://glygen.org/publication/PubMed/28119629" }, { "database": "PubMed", "id": "28240310", "url": "https://glygen.org/publication/PubMed/28240310" }, { "database": "PubMed", "id": "30093530", "url": "https://glygen.org/publication/PubMed/30093530" }, { "database": "PubMed", "id": "31811262", "url": "https://glygen.org/publication/PubMed/31811262" }, { "database": "PubMed", "id": "32531347", "url": "https://glygen.org/publication/PubMed/32531347" }, { "database": "PubMed", "id": "34068760", "url": "https://glygen.org/publication/PubMed/34068760" }, { "database": "PubMed", "id": "35108370", "url": "https://glygen.org/publication/PubMed/35108370" }, { "database": "PubMed", "id": "8226891", "url": "https://glygen.org/publication/PubMed/8226891" } ], "site_lbl": "Ser328" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "133", "end_pos": "133" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "379", "end_pos": "379" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P14598-1.310.310", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P14598-1.315.315", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P14598-1.320.320", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P14598-1.345.345", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P14598-1.348.348", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 16 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P14598-1.359.359", "start_pos": 359, "end_pos": 359, "uniprot_canonical_ac": "P14598-1", "length": 390, "uniprot_id": "NCF1_HUMAN", "protein_name": "Neutrophil cytosol factor 1", "refseq_ac": "NP_000256", "refseq_name": "neutrophil cytosol factor 1", "gene_name": "NCF1", "gene_names_uniprotkb": "NCF1; NOXO2; SH3PXD1A", "gene_names_refseq": "CGD1; NCF-1; NCF-47K; NCF1A; NCF1; NOXO2; SH3PXD1A; p47-phox; p47phox", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Binding of the PX domain of p47(phox) to phosphatidylinositol 3,4-bisphosphate and phosphatidic acid is masked by an intramolecular interaction.", "journal": "The EMBO journal", "date": "2002", "authors": "Karathanassis D, Stahelin RV, Bravo J, Perisic O, Pacold CM, Cho W, Williams RL", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "reference": [ { "type": "PubMed", "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722" } ] }, { "title": "Phosphorylation of p47phox sites by PKC alpha, beta II, delta, and zeta: effect on binding to p22phox and on NADPH oxidase activation.", "journal": "Biochemistry", "date": "2002", "authors": "Fontayne A, Dang PM, Gougerot-Pocidalo MA, El-Benna J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ] }, { "title": "Diaphragm Abnormalities in Patients with End-Stage Heart Failure: NADPH Oxidase Upregulation and Protein Oxidation.", "journal": "Frontiers in physiology", "date": "2016", "authors": "Ahn Bumsoo, Coblentz Philip D, Beharry Adam W, Patel Nikhil, Judge Andrew R, Moylan Jennifer S, Hoopes Charles W, Bonnell Mark R, Ferreira Leonardo F", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "28119629", "url": "https://glygen.org/publication/PubMed/28119629" } ] }, { "title": "\u03b1-Iso-cubebene attenuates neointima formation by inhibiting HMGB1-induced monocyte to macrophage differentiation via suppressing ROS production.", "journal": "International immunopharmacology", "date": "2022-10", "authors": "Baek Seung Eun, Jang Eun Jeong, Choi Jong Min, Choi Young Whan, Kim Chi Dae", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "35940074", "url": "https://glygen.org/publication/PubMed/35940074" } ] } ], "crossref": [ { "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28119629", "url": "https://glygen.org/publication/PubMed/28119629", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35940074", "url": "https://glygen.org/publication/PubMed/35940074", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ARPGPQSPGSPLEEERQTQR", "down_seq": "KPQPAVPPRPSADLILNRCS", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "E", "comment": "Abolishes autoinhibition and promotes phospholipid binding; when associated with E-303; E-304; E-328 and E-370.", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "PubMed", "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P05771-1", "kinase_gene_name": "PRKCB", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser359" }, { "kinase_uniprot_canonical_ac": "P17252-1", "kinase_gene_name": "PRKCA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser359" }, { "kinase_uniprot_canonical_ac": "Q05513-1", "kinase_gene_name": "PRKCZ", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser359" }, { "kinase_uniprot_canonical_ac": "Q05655-1", "kinase_gene_name": "PRKCD", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser359" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "28119629", "url": "https://glygen.org/publication/PubMed/28119629" }, { "database": "PubMed", "id": "35940074", "url": "https://glygen.org/publication/PubMed/35940074" } ], "site_lbl": "Ser359" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "133", "end_pos": "133" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "379", "end_pos": "379" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P14598-1.345.345", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P14598-1.348.348", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P14598-1.356.356", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P14598-1.370.370", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P14598-1.379.379", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P14598-1.370.370", "start_pos": 370, "end_pos": 370, "uniprot_canonical_ac": "P14598-1", "length": 390, "uniprot_id": "NCF1_HUMAN", "protein_name": "Neutrophil cytosol factor 1", "refseq_ac": "NP_000256", "refseq_name": "neutrophil cytosol factor 1", "gene_name": "NCF1", "gene_names_uniprotkb": "NCF1; NOXO2; SH3PXD1A", "gene_names_refseq": "CGD1; NCF-1; NCF-47K; NCF1A; NCF1; NOXO2; SH3PXD1A; p47-phox; p47phox", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Binding of the PX domain of p47(phox) to phosphatidylinositol 3,4-bisphosphate and phosphatidic acid is masked by an intramolecular interaction.", "journal": "The EMBO journal", "date": "2002", "authors": "Karathanassis D, Stahelin RV, Bravo J, Perisic O, Pacold CM, Cho W, Williams RL", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "reference": [ { "type": "PubMed", "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722" } ] }, { "title": "Phosphorylation of p47phox sites by PKC alpha, beta II, delta, and zeta: effect on binding to p22phox and on NADPH oxidase activation.", "journal": "Biochemistry", "date": "2002", "authors": "Fontayne A, Dang PM, Gougerot-Pocidalo MA, El-Benna J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ] }, { "title": "Diaphragm Abnormalities in Patients with End-Stage Heart Failure: NADPH Oxidase Upregulation and Protein Oxidation.", "journal": "Frontiers in physiology", "date": "2016", "authors": "Ahn Bumsoo, Coblentz Philip D, Beharry Adam W, Patel Nikhil, Judge Andrew R, Moylan Jennifer S, Hoopes Charles W, Bonnell Mark R, Ferreira Leonardo F", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "28119629", "url": "https://glygen.org/publication/PubMed/28119629" } ] }, { "title": "\u03b1-Iso-cubebene attenuates neointima formation by inhibiting HMGB1-induced monocyte to macrophage differentiation via suppressing ROS production.", "journal": "International immunopharmacology", "date": "2022-10", "authors": "Baek Seung Eun, Jang Eun Jeong, Choi Jong Min, Choi Young Whan, Kim Chi Dae", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "35940074", "url": "https://glygen.org/publication/PubMed/35940074" } ] } ], "crossref": [ { "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28119629", "url": "https://glygen.org/publication/PubMed/28119629", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35940074", "url": "https://glygen.org/publication/PubMed/35940074", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LEEERQTQRSKPQPAVPPRP", "down_seq": "ADLILNRCSESTKRKLASAV", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "E", "comment": "Abolishes autoinhibition and promotes phospholipid binding; when associated with E-303; E-304; E-328 and E-359.", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "PubMed", "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P05771-1", "kinase_gene_name": "PRKCB", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser370" }, { "kinase_uniprot_canonical_ac": "P17252-1", "kinase_gene_name": "PRKCA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser370" }, { "kinase_uniprot_canonical_ac": "Q05513-1", "kinase_gene_name": "PRKCZ", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser370" }, { "kinase_uniprot_canonical_ac": "Q05655-1", "kinase_gene_name": "PRKCD", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser370" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "28119629", "url": "https://glygen.org/publication/PubMed/28119629" }, { "database": "PubMed", "id": "35940074", "url": "https://glygen.org/publication/PubMed/35940074" } ], "site_lbl": "Ser370" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "133", "end_pos": "133" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "379", "end_pos": "379" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P14598-1.356.356", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P14598-1.359.359", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P14598-1.379.379", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P14598-1.43.43", "start_pos": 43, "end_pos": 43, "uniprot_canonical_ac": "P14598-1", "length": 390, "uniprot_id": "NCF1_HUMAN", "protein_name": "Neutrophil cytosol factor 1", "refseq_ac": "NP_000256", "refseq_name": "neutrophil cytosol factor 1", "gene_name": "NCF1", "gene_names_uniprotkb": "NCF1; NOXO2; SH3PXD1A", "gene_names_refseq": "CGD1; NCF-1; NCF-47K; NCF1A; NCF1; NOXO2; SH3PXD1A; p47-phox; p47phox", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Binding of the PX domain of p47(phox) to phosphatidylinositol 3,4-bisphosphate and phosphatidic acid is masked by an intramolecular interaction.", "journal": "The EMBO journal", "date": "2002", "authors": "Karathanassis D, Stahelin RV, Bravo J, Perisic O, Pacold CM, Cho W, Williams RL", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "reference": [ { "type": "PubMed", "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722" } ] } ], "crossref": [ { "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "HYVYMFLVKWQDLSEKVVYR", "down_seq": "FTEIYEFHKTLKEMFPIEAG", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Reduces affinity for membranes enriched in phosphatidylinositol 3,4-bisphosphate.", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "PubMed", "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "133", "end_pos": "133" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "379", "end_pos": "379" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P14598-1.90.90", "start_pos": 90, "end_pos": 90, "uniprot_canonical_ac": "P14598-1", "length": 390, "uniprot_id": "NCF1_HUMAN", "protein_name": "Neutrophil cytosol factor 1", "refseq_ac": "NP_000256", "refseq_name": "neutrophil cytosol factor 1", "gene_name": "NCF1", "gene_names_uniprotkb": "NCF1; NOXO2; SH3PXD1A", "gene_names_refseq": "CGD1; NCF-1; NCF-47K; NCF1A; NCF1; NOXO2; SH3PXD1A; p47-phox; p47phox", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Binding of the PX domain of p47(phox) to phosphatidylinositol 3,4-bisphosphate and phosphatidic acid is masked by an intramolecular interaction.", "journal": "The EMBO journal", "date": "2002", "authors": "Karathanassis D, Stahelin RV, Bravo J, Perisic O, Pacold CM, Cho W, Williams RL", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "reference": [ { "type": "PubMed", "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722" } ] } ], "crossref": [ { "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RIIPHLPAPKWFDGQRAAEN", "down_seq": "QGTLTEYCSTLMSLPTKISR", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Reduces affinity for membranes enriched in phosphatidylinositol 3,4-bisphosphate.", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "PubMed", "id": "12356722", "url": "https://glygen.org/publication/PubMed/12356722" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "133", "end_pos": "133" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "379", "end_pos": "379" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P14598-1.121.121", "start_pos": 121, "end_pos": 121, "uniprot_canonical_ac": "P14598-1", "length": 390, "uniprot_id": "NCF1_HUMAN", "protein_name": "Neutrophil cytosol factor 1", "refseq_ac": "NP_000256", "refseq_name": "neutrophil cytosol factor 1", "gene_name": "NCF1", "gene_names_uniprotkb": "NCF1; NOXO2; SH3PXD1A", "gene_names_refseq": "CGD1; NCF-1; NCF-47K; NCF1A; NCF1; NOXO2; SH3PXD1A; p47-phox; p47phox", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P14598", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P14598", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LMSLPTKISRCPHLLDFFKV", "down_seq": "PDDLKLPTDNQTKKPETYLM", "snv": [ { "evidence": [ { "id": "P14598", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P14598" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "7", "chr_pos": "74779388", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R121", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "133", "end_pos": "133" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "379", "end_pos": "379" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "P14598-1.133.133", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P14598-1.133.133", "start_pos": 133, "end_pos": 133, "uniprot_canonical_ac": "P14598-1", "length": 390, "uniprot_id": "NCF1_HUMAN", "protein_name": "Neutrophil cytosol factor 1", "refseq_ac": "NP_000256", "refseq_name": "neutrophil cytosol factor 1", "gene_name": "NCF1", "gene_names_uniprotkb": "NCF1; NOXO2; SH3PXD1A", "gene_names_refseq": "CGD1; NCF-1; NCF-47K; NCF1A; NCF1; NOXO2; SH3PXD1A; p47-phox; p47phox", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Cross-talk between IRAK-4 and the NADPH oxidase.", "journal": "The Biochemical journal", "date": "2007", "authors": "Pacquelet S, Johnson JL, Ellis BA, Brzezinska AA, Lane WS, Munafo DB, Catz SD", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "17217339", "url": "https://glygen.org/publication/PubMed/17217339" } ] } ], "crossref": [ { "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17217339", "url": "https://glygen.org/publication/PubMed/17217339", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "HLLDFFKVRPDDLKLPTDNQ", "down_seq": "KKPETYLMPKDGKSTATDIT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9NWZ3-1", "kinase_gene_name": "IRAK4", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "17217339", "url": "https://glygen.org/publication/PubMed/17217339" } ], "site_lbl": "Thr133" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "17217339", "url": "https://glygen.org/publication/PubMed/17217339" } ], "site_lbl": "Thr133" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "133", "end_pos": "133" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "379", "end_pos": "379" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P14598-1.121.121", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P14598-1.288.288", "start_pos": 288, "end_pos": 288, "uniprot_canonical_ac": "P14598-1", "length": 390, "uniprot_id": "NCF1_HUMAN", "protein_name": "Neutrophil cytosol factor 1", "refseq_ac": "NP_000256", "refseq_name": "neutrophil cytosol factor 1", "gene_name": "NCF1", "gene_names_uniprotkb": "NCF1; NOXO2; SH3PXD1A", "gene_names_refseq": "CGD1; NCF-1; NCF-47K; NCF1A; NCF1; NOXO2; SH3PXD1A; p47-phox; p47phox", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Cross-talk between IRAK-4 and the NADPH oxidase.", "journal": "The Biochemical journal", "date": "2007", "authors": "Pacquelet S, Johnson JL, Ellis BA, Brzezinska AA, Lane WS, Munafo DB, Catz SD", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "17217339", "url": "https://glygen.org/publication/PubMed/17217339" } ] } ], "crossref": [ { "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17217339", "url": "https://glygen.org/publication/PubMed/17217339", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KDDVTGYFPSMYLQKSGQDV", "down_seq": "QAQRQIKRGAPPRRSSIRNA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9NWZ3-1", "kinase_gene_name": "IRAK4", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "17217339", "url": "https://glygen.org/publication/PubMed/17217339" } ], "site_lbl": "Ser288" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "17217339", "url": "https://glygen.org/publication/PubMed/17217339" } ], "site_lbl": "Ser288" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "133", "end_pos": "133" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "379", "end_pos": "379" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "P14598-1.303.303", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P14598-1.304.304", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P14598-1.310.310", "start_pos": 310, "end_pos": 310, "uniprot_canonical_ac": "P14598-1", "length": 390, "uniprot_id": "NCF1_HUMAN", "protein_name": "Neutrophil cytosol factor 1", "refseq_ac": "NP_000256", "refseq_name": "neutrophil cytosol factor 1", "gene_name": "NCF1", "gene_names_uniprotkb": "NCF1; NOXO2; SH3PXD1A", "gene_names_refseq": "CGD1; NCF-1; NCF-47K; NCF1A; NCF1; NOXO2; SH3PXD1A; p47-phox; p47phox", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphorylation of the respiratory burst oxidase subunit p47phox as determined by two-dimensional phosphopeptide mapping. Phosphorylation by protein kinase C, protein kinase A, and a mitogen-activated protein kinase.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "El Benna J, Faust RP, Johnson JL, Babior BM", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "8626435", "url": "https://glygen.org/publication/PubMed/8626435" } ] } ], "crossref": [ { "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "8626435", "url": "https://glygen.org/publication/PubMed/8626435", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AQRQIKRGAPPRRSSIRNAH", "down_seq": "IHQRSRKRLSQDAYRRNSVR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "8626435", "url": "https://glygen.org/publication/PubMed/8626435" } ], "site_lbl": "Ser310" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "133", "end_pos": "133" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "379", "end_pos": "379" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "P14598-1.303.303", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P14598-1.304.304", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P14598-1.315.315", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P14598-1.320.320", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P14598-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P14598-1.315.315", "start_pos": 315, "end_pos": 315, "uniprot_canonical_ac": "P14598-1", "length": 390, "uniprot_id": "NCF1_HUMAN", "protein_name": "Neutrophil cytosol factor 1", "refseq_ac": "NP_000256", "refseq_name": "neutrophil cytosol factor 1", "gene_name": "NCF1", "gene_names_uniprotkb": "NCF1; NOXO2; SH3PXD1A", "gene_names_refseq": "CGD1; NCF-1; NCF-47K; NCF1A; NCF1; NOXO2; SH3PXD1A; p47-phox; p47phox", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphorylation of p47phox sites by PKC alpha, beta II, delta, and zeta: effect on binding to p22phox and on NADPH oxidase activation.", "journal": "Biochemistry", "date": "2002", "authors": "Fontayne A, Dang PM, Gougerot-Pocidalo MA, El-Benna J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ] }, { "title": "Zymosan induces NADPH oxidase activation in human neutrophils by inducing the phosphorylation of p47phox and the activation of Rac2: involvement of protein tyrosine kinases, PI3Kinase, PKC, ERK1/2 and p38MAPkinase.", "journal": "Biochemical pharmacology", "date": "2013", "authors": "Makni-Maalej K, Chiandotto M, Hurtado-Nedelec M, Bedouhene S, Gougerot-Pocidalo MA, Dang PM, El-Benna J", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "23085266", "url": "https://glygen.org/publication/PubMed/23085266" } ] }, { "title": "Phosphorylation of p47phox is required for receptor-mediated NADPH oxidase/NOX2 activation in Epstein-Barr virus-transformed human B lymphocytes.", "journal": "American journal of blood research", "date": "2012", "authors": "Belambri SA, Hurtado-Nedelec M, Senator A, Makni-Maalej K, Fay M, Gougerot-Pocidalo MA, Marie JC, Dang PM, El-Benna J", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "23119229", "url": "https://glygen.org/publication/PubMed/23119229" } ] }, { "title": "Impaired p47phox phosphorylation in neutrophils from patients with p67phox-deficient chronic granulomatous disease.", "journal": "Blood", "date": "2022", "authors": "Belambri SA, Marzaioli V, Hurtado-Nedelec M, Pintard C, Liang S, Liu Y, Boussetta T, Gougerot-Pocidalo MA, Ye RD, Dang PM, El-Benna J", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "35108370", "url": "https://glygen.org/publication/PubMed/35108370" } ] } ], "crossref": [ { "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23085266", "url": "https://glygen.org/publication/PubMed/23085266", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23119229", "url": "https://glygen.org/publication/PubMed/23119229", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35108370", "url": "https://glygen.org/publication/PubMed/35108370", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KRGAPPRRSSIRNAHSIHQR", "down_seq": "RKRLSQDAYRRNSVRFLQQR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P05771-1", "kinase_gene_name": "PRKCB", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser315" }, { "kinase_uniprot_canonical_ac": "P17252-1", "kinase_gene_name": "PRKCA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser315" }, { "kinase_uniprot_canonical_ac": "Q05513-1", "kinase_gene_name": "PRKCZ", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser315" }, { "kinase_uniprot_canonical_ac": "Q05655-1", "kinase_gene_name": "PRKCD", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser315" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "23085266", "url": "https://glygen.org/publication/PubMed/23085266" }, { "database": "PubMed", "id": "23119229", "url": "https://glygen.org/publication/PubMed/23119229" }, { "database": "PubMed", "id": "35108370", "url": "https://glygen.org/publication/PubMed/35108370" } ], "site_lbl": "Ser315" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "133", "end_pos": "133" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "379", "end_pos": "379" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P14598-1.303.303", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P14598-1.304.304", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P14598-1.310.310", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P14598-1.320.320", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P14598-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P14598-1.320.320", "start_pos": 320, "end_pos": 320, "uniprot_canonical_ac": "P14598-1", "length": 390, "uniprot_id": "NCF1_HUMAN", "protein_name": "Neutrophil cytosol factor 1", "refseq_ac": "NP_000256", "refseq_name": "neutrophil cytosol factor 1", "gene_name": "NCF1", "gene_names_uniprotkb": "NCF1; NOXO2; SH3PXD1A", "gene_names_refseq": "CGD1; NCF-1; NCF-47K; NCF1A; NCF1; NOXO2; SH3PXD1A; p47-phox; p47phox", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphorylation of p47phox sites by PKC alpha, beta II, delta, and zeta: effect on binding to p22phox and on NADPH oxidase activation.", "journal": "Biochemistry", "date": "2002", "authors": "Fontayne A, Dang PM, Gougerot-Pocidalo MA, El-Benna J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ] }, { "title": "Cross-talk between IRAK-4 and the NADPH oxidase.", "journal": "The Biochemical journal", "date": "2007", "authors": "Pacquelet S, Johnson JL, Ellis BA, Brzezinska AA, Lane WS, Munafo DB, Catz SD", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "17217339", "url": "https://glygen.org/publication/PubMed/17217339" } ] }, { "title": "The phosphorylation of the respiratory burst oxidase component p47phox during neutrophil activation. Phosphorylation of sites recognized by protein kinase C and by proline-directed kinases.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "el Benna J, Faust LP, Babior BM", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "8089108", "url": "https://glygen.org/publication/PubMed/8089108" } ] }, { "title": "Phosphorylation of p47phox is required for receptor-mediated NADPH oxidase/NOX2 activation in Epstein-Barr virus-transformed human B lymphocytes.", "journal": "American journal of blood research", "date": "2012", "authors": "Belambri SA, Hurtado-Nedelec M, Senator A, Makni-Maalej K, Fay M, Gougerot-Pocidalo MA, Marie JC, Dang PM, El-Benna J", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "23119229", "url": "https://glygen.org/publication/PubMed/23119229" } ] }, { "title": "Impaired p47phox phosphorylation in neutrophils from patients with p67phox-deficient chronic granulomatous disease.", "journal": "Blood", "date": "2022", "authors": "Belambri SA, Marzaioli V, Hurtado-Nedelec M, Pintard C, Liang S, Liu Y, Boussetta T, Gougerot-Pocidalo MA, Ye RD, Dang PM, El-Benna J", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "35108370", "url": "https://glygen.org/publication/PubMed/35108370" } ] } ], "crossref": [ { "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17217339", "url": "https://glygen.org/publication/PubMed/17217339", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "8089108", "url": "https://glygen.org/publication/PubMed/8089108", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P14598", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P14598", "database": "PRO", "categories": [ "Other" ] }, { "id": "23119229", "url": "https://glygen.org/publication/PubMed/23119229", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35108370", "url": "https://glygen.org/publication/PubMed/35108370", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PRRSSIRNAHSIHQRSRKRL", "down_seq": "QDAYRRNSVRFLQQRRRQAR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P05771-1", "kinase_gene_name": "PRKCB", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser320" }, { "kinase_uniprot_canonical_ac": "P17252-1", "kinase_gene_name": "PRKCA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser320" }, { "kinase_uniprot_canonical_ac": "Q05513-1", "kinase_gene_name": "PRKCZ", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser320" }, { "kinase_uniprot_canonical_ac": "Q05655-1", "kinase_gene_name": "PRKCD", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser320" }, { "kinase_uniprot_canonical_ac": "Q9NWZ3-1", "kinase_gene_name": "IRAK4", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "17217339", "url": "https://glygen.org/publication/PubMed/17217339" } ], "site_lbl": "Ser320" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "PubMed", "id": "8089108", "url": "https://glygen.org/publication/PubMed/8089108" }, { "database": "PRO", "id": "P14598", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P14598" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "23119229", "url": "https://glygen.org/publication/PubMed/23119229" }, { "database": "PubMed", "id": "35108370", "url": "https://glygen.org/publication/PubMed/35108370" } ], "site_lbl": "Ser320" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "133", "end_pos": "133" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "379", "end_pos": "379" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P14598-1.303.303", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P14598-1.304.304", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P14598-1.310.310", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P14598-1.315.315", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P14598-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P14598-1.345.345", "start_pos": 345, "end_pos": 345, "uniprot_canonical_ac": "P14598-1", "length": 390, "uniprot_id": "NCF1_HUMAN", "protein_name": "Neutrophil cytosol factor 1", "refseq_ac": "NP_000256", "refseq_name": "neutrophil cytosol factor 1", "gene_name": "NCF1", "gene_names_uniprotkb": "NCF1; NOXO2; SH3PXD1A", "gene_names_refseq": "CGD1; NCF-1; NCF-47K; NCF1A; NCF1; NOXO2; SH3PXD1A; p47-phox; p47phox", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A specific p47phox -serine phosphorylated by convergent MAPKs mediates neutrophil NADPH oxidase priming at inflammatory sites.", "journal": "The Journal of clinical investigation", "date": "2006", "authors": "Dang PM, Stensballe A, Boussetta T, Raad H, Dewas C, Kroviarski Y, Hayem G, Jensen ON, Gougerot-Pocidalo MA, El-Benna J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "16778989", "url": "https://glygen.org/publication/PubMed/16778989" } ] }, { "title": "Phosphorylation of the respiratory burst oxidase subunit p47phox as determined by two-dimensional phosphopeptide mapping. Phosphorylation by protein kinase C, protein kinase A, and a mitogen-activated protein kinase.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "El Benna J, Faust RP, Johnson JL, Babior BM", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "8626435", "url": "https://glygen.org/publication/PubMed/8626435" } ] }, { "title": "MAPKAP kinase-2 is a cell cycle checkpoint kinase that regulates the G2/M transition and S phase progression in response to UV irradiation.", "journal": "Molecular cell", "date": "2005", "authors": "Manke IA, Nguyen A, Lim D, Stewart MQ, Elia AE, Yaffe MB", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "15629715", "url": "https://glygen.org/publication/PubMed/15629715" } ] }, { "title": "Cross-talk between IRAK-4 and the NADPH oxidase.", "journal": "The Biochemical journal", "date": "2007", "authors": "Pacquelet S, Johnson JL, Ellis BA, Brzezinska AA, Lane WS, Munafo DB, Catz SD", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "17217339", "url": "https://glygen.org/publication/PubMed/17217339" } ] }, { "title": "The phosphorylation of the respiratory burst oxidase component p47phox during neutrophil activation. Phosphorylation of sites recognized by protein kinase C and by proline-directed kinases.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "el Benna J, Faust LP, Babior BM", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "8089108", "url": "https://glygen.org/publication/PubMed/8089108" } ] }, { "title": "Zymosan induces NADPH oxidase activation in human neutrophils by inducing the phosphorylation of p47phox and the activation of Rac2: involvement of protein tyrosine kinases, PI3Kinase, PKC, ERK1/2 and p38MAPkinase.", "journal": "Biochemical pharmacology", "date": "2013", "authors": "Makni-Maalej K, Chiandotto M, Hurtado-Nedelec M, Bedouhene S, Gougerot-Pocidalo MA, Dang PM, El-Benna J", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "23085266", "url": "https://glygen.org/publication/PubMed/23085266" } ] }, { "title": "Phosphorylation of p47phox is required for receptor-mediated NADPH oxidase/NOX2 activation in Epstein-Barr virus-transformed human B lymphocytes.", "journal": "American journal of blood research", "date": "2012", "authors": "Belambri SA, Hurtado-Nedelec M, Senator A, Makni-Maalej K, Fay M, Gougerot-Pocidalo MA, Marie JC, Dang PM, El-Benna J", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "23119229", "url": "https://glygen.org/publication/PubMed/23119229" } ] }, { "title": "Increased reactive oxygen species production and p47phox phosphorylation in neutrophils from myeloproliferative disorders patients with JAK2 (V617F) mutation.", "journal": "Haematologica", "date": "2013", "authors": "Hurtado-Nedelec M, Csillag-Grange MJ, Boussetta T, Belambri SA, Fay M, Cassinat B, Gougerot-Pocidalo MA, Dang PM, El-Benna J", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "23975181", "url": "https://glygen.org/publication/PubMed/23975181" } ] }, { "title": "TLR8, but not TLR7, induces the priming of the NADPH oxidase activation in human neutrophils.", "journal": "Journal of leukocyte biology", "date": "2015", "authors": "Makni-Maalej K, Marzaioli V, Boussetta T, Belambri SA, Gougerot-Pocidalo MA, Hurtado-Nedelec M, Dang PM, El-Benna J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "25877926", "url": "https://glygen.org/publication/PubMed/25877926" } ] }, { "title": "Vasoactive intestinal peptide dampens formyl-peptide-induced ROS production and inflammation by targeting a MAPK-p47phox phosphorylation pathway in monocytes.", "journal": "Mucosal immunology", "date": "2017-03", "authors": "Chedid P, Boussetta T, Dang P M-C, Belambri S A, Marzaioli V, Fasseau M, Walker F, Couvineau A, El-Benna J, Marie J-C", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "27271317", "url": "https://glygen.org/publication/PubMed/27271317" } ] }, { "title": "Diaphragm Abnormalities in Patients with End-Stage Heart Failure: NADPH Oxidase Upregulation and Protein Oxidation.", "journal": "Frontiers in physiology", "date": "2016", "authors": "Ahn Bumsoo, Coblentz Philip D, Beharry Adam W, Patel Nikhil, Judge Andrew R, Moylan Jennifer S, Hoopes Charles W, Bonnell Mark R, Ferreira Leonardo F", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "28119629", "url": "https://glygen.org/publication/PubMed/28119629" } ] }, { "title": "The Prolyl Isomerase Pin1 Controls Lipopolysaccharide-Induced Priming of NADPH Oxidase in Human Neutrophils.", "journal": "Frontiers in immunology", "date": "2019", "authors": "Liu Min, Bedouhene Samia, Hurtado-Nedelec Margarita, Pintard Coralie, Dang Pham My-Chan, Yu Shiyuan, El-Benna Jamel", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "31736979", "url": "https://glygen.org/publication/PubMed/31736979" } ] }, { "title": "Eugenol prevents fMLF-induced superoxide anion production in human neutrophils by inhibiting ERK1/2 signaling pathway and p47phox phosphorylation.", "journal": "Scientific reports", "date": "2019-12-06", "authors": "Chniguir Amina, Pintard Coralie, Liu Dan, Dang Pham My-Chan, El-Benna Jamel, Bachoual Rafik", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "31811262", "url": "https://glygen.org/publication/PubMed/31811262" } ] }, { "title": "RhoA GTPase phosphorylated at tyrosine 42 by src kinase binds to \u03b2-catenin and contributes transcriptional regulation of vimentin upon Wnt3A.", "journal": "Redox biology", "date": "2021-04", "authors": "Kim Jae-Gyu, Mahmud Shohel, Min Jung Ki, Lee Yoon-Beom, Kim Hyunbin, Kang Dong-Chul, Park Hwee-Seon, Seong Jihye, Park Jae-Bong", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "33388549", "url": "https://glygen.org/publication/PubMed/33388549" } ] }, { "title": "The Modulation of NADPH Oxidase Activity in Human Neutrophils by Moroccan Strains of Leishmania major and Leishmania tropica Is Not Associated with p47phox Phosphorylation.", "journal": "Microorganisms", "date": "2021-05-10", "authors": "Maksouri Hasnaa, Darif Dounia, Estaquier Jerome, Riyad Myriam, Desterke Christophe, Lemrani Meryem, Dang Pham My-Chan, Akarid Khadija", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "34068760", "url": "https://glygen.org/publication/PubMed/34068760" } ] }, { "title": "Impaired p47phox phosphorylation in neutrophils from patients with p67phox-deficient chronic granulomatous disease.", "journal": "Blood", "date": "2022", "authors": "Belambri SA, Marzaioli V, Hurtado-Nedelec M, Pintard C, Liang S, Liu Y, Boussetta T, Gougerot-Pocidalo MA, Ye RD, Dang PM, El-Benna J", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "35108370", "url": "https://glygen.org/publication/PubMed/35108370" } ] }, { "title": "Selective phosphorylation of serine 345 on p47-phox serves as a priming signal of ROS-mediated axonal degeneration.", "journal": "Experimental neurology", "date": "2022-06", "authors": "Wakatsuki Shuji, Takahashi Yoko, Shibata Megumi, Araki Toshiyuki", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "35218706", "url": "https://glygen.org/publication/PubMed/35218706" } ] }, { "title": "\u03b1-Iso-cubebene attenuates neointima formation by inhibiting HMGB1-induced monocyte to macrophage differentiation via suppressing ROS production.", "journal": "International immunopharmacology", "date": "2022-10", "authors": "Baek Seung Eun, Jang Eun Jeong, Choi Jong Min, Choi Young Whan, Kim Chi Dae", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "35940074", "url": "https://glygen.org/publication/PubMed/35940074" } ] } ], "crossref": [ { "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "16778989", "url": "https://glygen.org/publication/PubMed/16778989", "database": "PubMed", "categories": [ "Other" ] }, { "id": "8626435", "url": "https://glygen.org/publication/PubMed/8626435", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15629715", "url": "https://glygen.org/publication/PubMed/15629715", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17217339", "url": "https://glygen.org/publication/PubMed/17217339", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "8089108", "url": "https://glygen.org/publication/PubMed/8089108", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P14598", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P14598", "database": "PRO", "categories": [ "Other" ] }, { "id": "23085266", "url": "https://glygen.org/publication/PubMed/23085266", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23119229", "url": "https://glygen.org/publication/PubMed/23119229", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23975181", "url": "https://glygen.org/publication/PubMed/23975181", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25877926", "url": "https://glygen.org/publication/PubMed/25877926", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27271317", "url": "https://glygen.org/publication/PubMed/27271317", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28119629", "url": "https://glygen.org/publication/PubMed/28119629", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31736979", "url": "https://glygen.org/publication/PubMed/31736979", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31811262", "url": "https://glygen.org/publication/PubMed/31811262", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33388549", "url": "https://glygen.org/publication/PubMed/33388549", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34068760", "url": "https://glygen.org/publication/PubMed/34068760", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35108370", "url": "https://glygen.org/publication/PubMed/35108370", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35218706", "url": "https://glygen.org/publication/PubMed/35218706", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35940074", "url": "https://glygen.org/publication/PubMed/35940074", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RRNSVRFLQQRRRQARPGPQ", "down_seq": "PGSPLEEERQTQRSKPQPAV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P27361-1", "kinase_gene_name": "MAPK3", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "16778989", "url": "https://glygen.org/publication/PubMed/16778989" }, { "database": "PubMed", "id": "8626435", "url": "https://glygen.org/publication/PubMed/8626435" } ], "site_lbl": "Ser345" }, { "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "8626435", "url": "https://glygen.org/publication/PubMed/8626435" }, { "database": "PubMed", "id": "16778989", "url": "https://glygen.org/publication/PubMed/16778989" } ], "site_lbl": "Ser345" }, { "kinase_uniprot_canonical_ac": "Q16539-1", "kinase_gene_name": "MAPK14", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "15629715", "url": "https://glygen.org/publication/PubMed/15629715" } ], "site_lbl": "Ser345" }, { "kinase_uniprot_canonical_ac": "Q9NWZ3-1", "kinase_gene_name": "IRAK4", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "17217339", "url": "https://glygen.org/publication/PubMed/17217339" } ], "site_lbl": "Ser345" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "PubMed", "id": "8089108", "url": "https://glygen.org/publication/PubMed/8089108" }, { "database": "PRO", "id": "P14598", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P14598" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "16778989", "url": "https://glygen.org/publication/PubMed/16778989" }, { "database": "PubMed", "id": "23085266", "url": "https://glygen.org/publication/PubMed/23085266" }, { "database": "PubMed", "id": "23119229", "url": "https://glygen.org/publication/PubMed/23119229" }, { "database": "PubMed", "id": "23975181", "url": "https://glygen.org/publication/PubMed/23975181" }, { "database": "PubMed", "id": "25877926", "url": "https://glygen.org/publication/PubMed/25877926" }, { "database": "PubMed", "id": "27271317", "url": "https://glygen.org/publication/PubMed/27271317" }, { "database": "PubMed", "id": "28119629", "url": "https://glygen.org/publication/PubMed/28119629" }, { "database": "PubMed", "id": "31736979", "url": "https://glygen.org/publication/PubMed/31736979" }, { "database": "PubMed", "id": "31811262", "url": "https://glygen.org/publication/PubMed/31811262" }, { "database": "PubMed", "id": "33388549", "url": "https://glygen.org/publication/PubMed/33388549" }, { "database": "PubMed", "id": "34068760", "url": "https://glygen.org/publication/PubMed/34068760" }, { "database": "PubMed", "id": "35108370", "url": "https://glygen.org/publication/PubMed/35108370" }, { "database": "PubMed", "id": "35218706", "url": "https://glygen.org/publication/PubMed/35218706" }, { "database": "PubMed", "id": "35940074", "url": "https://glygen.org/publication/PubMed/35940074" } ], "site_lbl": "Ser345" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "133", "end_pos": "133" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "379", "end_pos": "379" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P14598-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P14598-1.348.348", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P14598-1.356.356", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P14598-1.359.359", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 18 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P14598-1.348.348", "start_pos": 348, "end_pos": 348, "uniprot_canonical_ac": "P14598-1", "length": 390, "uniprot_id": "NCF1_HUMAN", "protein_name": "Neutrophil cytosol factor 1", "refseq_ac": "NP_000256", "refseq_name": "neutrophil cytosol factor 1", "gene_name": "NCF1", "gene_names_uniprotkb": "NCF1; NOXO2; SH3PXD1A", "gene_names_refseq": "CGD1; NCF-1; NCF-47K; NCF1A; NCF1; NOXO2; SH3PXD1A; p47-phox; p47phox", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphorylation of the respiratory burst oxidase subunit p47phox as determined by two-dimensional phosphopeptide mapping. Phosphorylation by protein kinase C, protein kinase A, and a mitogen-activated protein kinase.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "El Benna J, Faust RP, Johnson JL, Babior BM", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "8626435", "url": "https://glygen.org/publication/PubMed/8626435" } ] }, { "title": "MAPKAP kinase-2 is a cell cycle checkpoint kinase that regulates the G2/M transition and S phase progression in response to UV irradiation.", "journal": "Molecular cell", "date": "2005", "authors": "Manke IA, Nguyen A, Lim D, Stewart MQ, Elia AE, Yaffe MB", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "15629715", "url": "https://glygen.org/publication/PubMed/15629715" } ] }, { "title": "The phosphorylation of the respiratory burst oxidase component p47phox during neutrophil activation. Phosphorylation of sites recognized by protein kinase C and by proline-directed kinases.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "el Benna J, Faust LP, Babior BM", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "8089108", "url": "https://glygen.org/publication/PubMed/8089108" } ] } ], "crossref": [ { "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "8626435", "url": "https://glygen.org/publication/PubMed/8626435", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15629715", "url": "https://glygen.org/publication/PubMed/15629715", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "8089108", "url": "https://glygen.org/publication/PubMed/8089108", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P14598", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P14598", "database": "PRO", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SVRFLQQRRRQARPGPQSPG", "down_seq": "PLEEERQTQRSKPQPAVPPR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "8626435", "url": "https://glygen.org/publication/PubMed/8626435" } ], "site_lbl": "Ser348" }, { "kinase_uniprot_canonical_ac": "Q16539-1", "kinase_gene_name": "MAPK14", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "15629715", "url": "https://glygen.org/publication/PubMed/15629715" } ], "site_lbl": "Ser348" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" }, { "database": "PubMed", "id": "8089108", "url": "https://glygen.org/publication/PubMed/8089108" }, { "database": "PRO", "id": "P14598", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P14598" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "site_lbl": "Ser348" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "133", "end_pos": "133" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "379", "end_pos": "379" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P14598-1.328.328", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P14598-1.345.345", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P14598-1.356.356", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P14598-1.359.359", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P14598-1.356.356", "start_pos": 356, "end_pos": 356, "uniprot_canonical_ac": "P14598-1", "length": 390, "uniprot_id": "NCF1_HUMAN", "protein_name": "Neutrophil cytosol factor 1", "refseq_ac": "NP_000256", "refseq_name": "neutrophil cytosol factor 1", "gene_name": "NCF1", "gene_names_uniprotkb": "NCF1; NOXO2; SH3PXD1A", "gene_names_refseq": "CGD1; NCF-1; NCF-47K; NCF1A; NCF1; NOXO2; SH3PXD1A; p47-phox; p47phox", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Cross-talk between IRAK-4 and the NADPH oxidase.", "journal": "The Biochemical journal", "date": "2007", "authors": "Pacquelet S, Johnson JL, Ellis BA, Brzezinska AA, Lane WS, Munafo DB, Catz SD", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "17217339", "url": "https://glygen.org/publication/PubMed/17217339" } ] } ], "crossref": [ { "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17217339", "url": "https://glygen.org/publication/PubMed/17217339", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RRQARPGPQSPGSPLEEERQ", "down_seq": "QRSKPQPAVPPRPSADLILN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9NWZ3-1", "kinase_gene_name": "IRAK4", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "17217339", "url": "https://glygen.org/publication/PubMed/17217339" } ], "site_lbl": "Thr356" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "17217339", "url": "https://glygen.org/publication/PubMed/17217339" } ], "site_lbl": "Thr356" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "133", "end_pos": "133" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "379", "end_pos": "379" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P14598-1.345.345", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P14598-1.348.348", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P14598-1.359.359", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P14598-1.370.370", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P14598-1.379.379", "start_pos": 379, "end_pos": 379, "uniprot_canonical_ac": "P14598-1", "length": 390, "uniprot_id": "NCF1_HUMAN", "protein_name": "Neutrophil cytosol factor 1", "refseq_ac": "NP_000256", "refseq_name": "neutrophil cytosol factor 1", "gene_name": "NCF1", "gene_names_uniprotkb": "NCF1; NOXO2; SH3PXD1A", "gene_names_refseq": "CGD1; NCF-1; NCF-47K; NCF1A; NCF1; NOXO2; SH3PXD1A; p47-phox; p47phox", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14598", "url": "https://www.uniprot.org/uniprotkb/P14598" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphorylation of p47phox sites by PKC alpha, beta II, delta, and zeta: effect on binding to p22phox and on NADPH oxidase activation.", "journal": "Biochemistry", "date": "2002", "authors": "Fontayne A, Dang PM, Gougerot-Pocidalo MA, El-Benna J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" }, { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" } ], "reference": [ { "type": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ] } ], "crossref": [ { "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SKPQPAVPPRPSADLILNRC", "down_seq": "ESTKRKLASAV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P05771-1", "kinase_gene_name": "PRKCB", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser379" }, { "kinase_uniprot_canonical_ac": "P17252-1", "kinase_gene_name": "PRKCA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser379" }, { "kinase_uniprot_canonical_ac": "Q05513-1", "kinase_gene_name": "PRKCZ", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser379" }, { "kinase_uniprot_canonical_ac": "Q05655-1", "kinase_gene_name": "PRKCD", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P14598", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14598" }, { "database": "PubMed", "id": "12056906", "url": "https://glygen.org/publication/PubMed/12056906" } ], "site_lbl": "Ser379" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "263", "end_pos": "263" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "133", "end_pos": "133" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "379", "end_pos": "379" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P14598-1.359.359", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P14598-1.370.370", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y534-1.68.68", "start_pos": 68, "end_pos": 68, "uniprot_canonical_ac": "Q9Y534-1", "length": 153, "uniprot_id": "CSDC2_HUMAN", "protein_name": "Cold shock domain-containing protein C2", "refseq_ac": "NP_055275", "refseq_name": "cold shock domain-containing protein C2", "gene_name": "CSDC2", "gene_names_uniprotkb": "CSDC2; PIPPIN", "gene_names_refseq": "CSDC2; PIPPIN; dJ347H13.2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y534", "url": "https://www.uniprot.org/uniprotkb/Q9Y534" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y534", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y534", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "PLPTKRTRTYSATARASAGP", "down_seq": "FKGVCKQFSRSQGHGFITPE", "snv": [ { "evidence": [ { "id": "Q9Y534", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y534" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "22", "chr_pos": "41573680", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V68", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "68", "end_pos": "68" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" }, { "start_pos": "47", "end_pos": "47" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y534-1.19.19", "start_pos": 19, "end_pos": 19, "uniprot_canonical_ac": "Q9Y534-1", "length": 153, "uniprot_id": "CSDC2_HUMAN", "protein_name": "Cold shock domain-containing protein C2", "refseq_ac": "NP_055275", "refseq_name": "cold shock domain-containing protein C2", "gene_name": "CSDC2", "gene_names_uniprotkb": "CSDC2; PIPPIN", "gene_names_refseq": "CSDC2; PIPPIN; dJ347H13.2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y534", "url": "https://www.uniprot.org/uniprotkb/Q9Y534" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9Y534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y534" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q9Y534", "url": "https://www.uniprot.org/uniprotkb/Q9Y534", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9Y534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y534", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MTSESTSPPVVPPLHSPK", "down_seq": "PVWPTFPFHREGSRVWERGG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y534", "url": "https://www.uniprot.org/uniprotkb/Q9Y534" }, { "database": "iPTMnet", "id": "Q9Y534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y534" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser19" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "68", "end_pos": "68" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" }, { "start_pos": "47", "end_pos": "47" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y534-1.47.47", "start_pos": 47, "end_pos": 47, "uniprot_canonical_ac": "Q9Y534-1", "length": 153, "uniprot_id": "CSDC2_HUMAN", "protein_name": "Cold shock domain-containing protein C2", "refseq_ac": "NP_055275", "refseq_name": "cold shock domain-containing protein C2", "gene_name": "CSDC2", "gene_names_uniprotkb": "CSDC2; PIPPIN", "gene_names_refseq": "CSDC2; PIPPIN; dJ347H13.2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y534", "url": "https://www.uniprot.org/uniprotkb/Q9Y534" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9Y534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y534" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q9Y534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y534", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FHREGSRVWERGGVPPRDLP", "down_seq": "PLPTKRTRTYSATARASAGP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9Y534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y534" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser47" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "68", "end_pos": "68" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" }, { "start_pos": "47", "end_pos": "47" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P23945-1.191.191", "start_pos": 191, "end_pos": 191, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structure of human follicle-stimulating hormone in complex with its receptor.", "journal": "Nature", "date": "2005", "authors": "Fan QR, Hendrickson WA", "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945#ptm_processing" }, { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "reference": [ { "type": "PubMed", "id": "15662415", "url": "https://glygen.org/publication/PubMed/15662415" } ] }, { "title": "Evidence for Follicle-stimulating Hormone Receptor as a Functional Trimer.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Jiang X, Fischer D, Chen X, McKenna SD, Liu H, Sriraman V, Yu HN, Goutopoulos A, Arkinstall S, He X", "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945#ptm_processing" }, { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "reference": [ { "type": "PubMed", "id": "24692546", "url": "https://glygen.org/publication/PubMed/24692546" } ] } ], "crossref": [ { "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15662415", "url": "https://glygen.org/publication/PubMed/15662415", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24692546", "url": "https://glygen.org/publication/PubMed/24692546", "database": "PubMed", "categories": [ "Other" ] }, { "id": "4MQW", "url": "https://www.rcsb.org/structure/4MQW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4AY9", "url": "https://www.rcsb.org/structure/4AY9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8I2G", "url": "https://www.rcsb.org/structure/8I2G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4AY9|Z|191", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "4AY9|Y|191", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "4AY9|X|191", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "4MQW|Z|191", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "4MQW|Y|191", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "4MQW|X|191", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "8I2G|R|191", "url": "", "database": "", "categories": [ "Other" ] }, { "id": "rs772569509", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772569509", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772569509", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772569509", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772569509", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772569509#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs772569509", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772569509", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ESVILWLNKNGIQEIHNCAF", "down_seq": "GTQLDELNLSDNNNLEELPN", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=4AY9&bu=0&command=select+.Z:191;+center+selection;+zoom+selection" }, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn191", "evidence": [ { "id": "P23945", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P23945#ptm_processing" }, { "id": "15662415", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15662415" }, { "id": "24692546", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24692546" }, { "id": "4MQW", "database": "PDB", "url": "https://www.rcsb.org/sequence/4MQW" }, { "id": "4AY9", "database": "PDB", "url": "https://www.rcsb.org/structure/4AY9" }, { "id": "8I2G", "database": "PDB", "url": "https://www.rcsb.org/structure/8I2G" } ] } ], "snv": [ { "evidence": [ { "id": "rs772569509", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772569509" }, { "id": "rs772569509", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772569509" }, { "id": "rs772569509", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772569509#frequency_tab" }, { "id": "rs772569509", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772569509" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGT->SGT).", "chr_id": "2", "chr_pos": "48983119", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N191", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P23945-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P23945-1.199.199", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P23945-1.201.201", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P23945-1.206.206", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "icn3d_view.label", "icn3d_view.url", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "icn3d_view.label", "icn3d_view.url", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P23945-1.199.199", "start_pos": 199, "end_pos": 199, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1200276394", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1200276394", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1200276394", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1200276394#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "KNGIQEIHNCAFNGTQLDEL", "down_seq": "LSDNNNLEELPNDVFHGASG", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn199", "evidence": [ { "id": "P23945", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P23945#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1200276394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1200276394" }, { "id": "rs1200276394", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1200276394#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->KLS).", "chr_id": "2", "chr_pos": "48982983", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N199", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "P23945-1.191.191", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P23945-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P23945-1.201.201", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P23945-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P23945-1.216.216", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.293.293", "start_pos": 293, "end_pos": 293, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs748551523", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748551523", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748551523", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748551523", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748551523", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748551523", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs200999414", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200999414", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200999414", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200999414", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs200999414", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200999414", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs200999414", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200999414#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs200999414", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200999414", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "SHCCAFANWRRQISELHPIC", "down_seq": "KSILRQEVDYMTQARGQRSS", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn293", "evidence": [ { "id": "P23945", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P23945#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs748551523", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748551523" }, { "id": "rs748551523", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748551523" }, { "id": "rs748551523", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748551523" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NKS->KKS).", "chr_id": "2", "chr_pos": "48963942", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N293", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200999414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200999414" }, { "id": "rs200999414", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200999414" }, { "id": "rs200999414", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200999414" }, { "id": "rs200999414", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200999414#frequency_tab" }, { "id": "rs200999414", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200999414" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NKS->SKS).", "chr_id": "2", "chr_pos": "48963943", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "N293", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P23945-1.273.273", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P23945-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P23945-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P23945-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P23945-1.312.312", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.318.318", "start_pos": 318, "end_pos": 318, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1674353208", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1674353208", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1674353208", "url": "https://www.ensembl.org/id/rs1674353208", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs530490100", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530490100", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs530490100", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530490100", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs530490100", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530490100", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs530490100", "url": "https://www.ncbi.nlm.nih.gov/snp/rs530490100#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs530490100", "url": "http://gnomad.broadinstitute.org/awesome?query=rs530490100", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "RQEVDYMTQARGQRSSLAED", "down_seq": "ESSYSRGFDMTYTEFDYDLC", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn318", "evidence": [ { "id": "P23945", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P23945#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1674353208", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1674353208" }, { "id": "rs1674353208", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1674353208" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NES->DES).", "chr_id": "2", "chr_pos": "48963869", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N318", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs530490100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530490100" }, { "id": "rs530490100", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530490100" }, { "id": "rs530490100", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530490100" }, { "id": "rs530490100", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs530490100#frequency_tab" }, { "id": "rs530490100", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs530490100" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NES->SES).", "chr_id": "2", "chr_pos": "48963868", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "N318", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P23945-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P23945-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P23945-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P23945-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P23945-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P23945-1.330.330", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P23945-1.335.335", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.330.330", "start_pos": 330, "end_pos": 330, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Tyrosine sulfation is required for agonist recognition by glycoprotein hormone receptors.", "journal": "The EMBO journal", "date": "2002", "authors": "Costagliola S, Panneels V, Bonomi M, Koch J, Many MC, Smits G, Vassart G", "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "reference": [ { "type": "PubMed", "id": "11847099", "url": "https://glygen.org/publication/PubMed/11847099" } ] } ], "crossref": [ { "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "11847099", "url": "https://glygen.org/publication/PubMed/11847099", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "QRSSLAEDNESSYSRGFDMT", "down_seq": "TEFDYDLCNEVVDVTCSPKP", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No change in intracellular cAMP accumulation.", "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" }, { "database": "PubMed", "id": "11847099", "url": "https://glygen.org/publication/PubMed/11847099" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P23945-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P23945-1.318.318", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P23945-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P23945-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P23945-1.335.335", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P23945-1.343.343", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P23945-1.335.335", "start_pos": 335, "end_pos": 335, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Tyrosine sulfation is required for agonist recognition by glycoprotein hormone receptors.", "journal": "The EMBO journal", "date": "2002", "authors": "Costagliola S, Panneels V, Bonomi M, Koch J, Many MC, Smits G, Vassart G", "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "reference": [ { "type": "PubMed", "id": "11847099", "url": "https://glygen.org/publication/PubMed/11847099" } ] } ], "crossref": [ { "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "11847099", "url": "https://glygen.org/publication/PubMed/11847099", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "AEDNESSYSRGFDMTYTEFD", "down_seq": "DLCNEVVDVTCSPKPDAFNP", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Reduces intracellular cAMP accumulation.", "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" }, { "database": "PubMed", "id": "11847099", "url": "https://glygen.org/publication/PubMed/11847099" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P23945-1.318.318", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P23945-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P23945-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P23945-1.330.330", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P23945-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P23945-1.355.355", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P23945-1.273.273", "start_pos": 273, "end_pos": 273, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KKLPTLEKLVALMEASLTYP", "down_seq": "HCCAFANWRRQISELHPICN", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); n-glyco-sequon-gain (SHC->NHC).", "chr_id": "2", "chr_pos": "48968734", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S273", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P23945-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P23945-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P23945-1.293.293", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.114.114", "start_pos": 114, "end_pos": 114, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "LPKLHEIRIEKANNLLYINP", "down_seq": "AFQNLPNLQYLLISNTGIKH", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "2", "chr_pos": "49017521", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E114", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "P23945-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P23945-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P23945-1.131.131", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.120.120", "start_pos": 120, "end_pos": 120, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1321110015", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1321110015", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1321110015", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1321110015#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1321110015", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1321110015", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "IRIEKANNLLYINPEAFQNL", "down_seq": "NLQYLLISNTGIKHLPDVHK", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" }, { "id": "rs1321110015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1321110015" }, { "id": "rs1321110015", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1321110015#frequency_tab" }, { "id": "rs1321110015", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1321110015" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "2", "chr_pos": "49017505", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P120", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "P23945-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P23945-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P23945-1.131.131", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.123.123", "start_pos": 123, "end_pos": 123, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "EKANNLLYINPEAFQNLPNL", "down_seq": "YLLISNTGIKHLPDVHKIHS", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "49017496", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q123", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "P23945-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P23945-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P23945-1.131.131", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.131.131", "start_pos": 131, "end_pos": 131, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "INPEAFQNLPNLQYLLISNT", "down_seq": "IKHLPDVHKIHSLQKVLLDI", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NTG->NTS).", "chr_id": "2", "chr_pos": "48990621", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G131", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P23945-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P23945-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P23945-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P23945-1.146.146", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.146.146", "start_pos": 146, "end_pos": 146, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LISNTGIKHLPDVHKIHSLQ", "down_seq": "VLLDIQDNINIHTIERNSFV", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "4", "frequency": "0.6", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "48990574", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K146", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P23945-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P23945-1.165.165", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.165.165", "start_pos": 165, "end_pos": 165, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs981251034", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs981251034", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs981251034", "url": "https://www.ncbi.nlm.nih.gov/snp/rs981251034#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs981251034", "url": "http://gnomad.broadinstitute.org/awesome?query=rs981251034", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "QKVLLDIQDNINIHTIERNS", "down_seq": "VGLSFESVILWLNKNGIQEI", "snv": [ { "evidence": [ { "id": "rs981251034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs981251034" }, { "id": "rs981251034", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs981251034#frequency_tab" }, { "id": "rs981251034", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs981251034" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSF->NSC).", "chr_id": "2", "chr_pos": "48989007", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F165", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs981251034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs981251034" }, { "id": "rs981251034", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs981251034#frequency_tab" }, { "id": "rs981251034", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs981251034" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSF->NSS).", "chr_id": "2", "chr_pos": "48989007", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F165", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P23945-1.146.146", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.193.193", "start_pos": 193, "end_pos": 193, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs769052575", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769052575", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs769052575", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769052575", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs769052575", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769052575#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs769052575", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769052575", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VILWLNKNGIQEIHNCAFNG", "down_seq": "QLDELNLSDNNNLEELPNDV", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NGT->NGA).", "chr_id": "2", "chr_pos": "48983114", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T193", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs769052575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769052575" }, { "id": "rs769052575", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769052575" }, { "id": "rs769052575", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769052575#frequency_tab" }, { "id": "rs769052575", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769052575" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGT->NGI).", "chr_id": "2", "chr_pos": "48983113", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T193", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "5", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NGT->NGN).", "chr_id": "2", "chr_pos": "48983113", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T193", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P23945-1.191.191", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P23945-1.199.199", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P23945-1.201.201", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P23945-1.206.206", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.201.201", "start_pos": 201, "end_pos": 201, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs762364329", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762364329", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs762364329", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762364329", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs762364329", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762364329", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs75552966", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75552966", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs75552966", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs75552966", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs75552966", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75552966", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs75552966", "url": "https://www.ncbi.nlm.nih.gov/snp/rs75552966#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs75552966", "url": "http://gnomad.broadinstitute.org/awesome?query=rs75552966", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs75552966", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs75552966", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GIQEIHNCAFNGTQLDELNL", "down_seq": "DNNNLEELPNDVFHGASGPV", "snv": [ { "evidence": [ { "id": "rs762364329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762364329" }, { "id": "rs762364329", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762364329" }, { "id": "rs762364329", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762364329" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->NLG).", "chr_id": "2", "chr_pos": "48982979", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S201", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" }, { "id": "rs75552966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75552966" }, { "id": "rs75552966", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs75552966" }, { "id": "rs75552966", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs75552966" }, { "id": "rs75552966", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs75552966#frequency_tab" }, { "id": "rs75552966", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs75552966" }, { "id": "rs75552966", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs75552966" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NLS->NLR).", "chr_id": "2", "chr_pos": "48982979", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S201", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "P23945-1.191.191", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P23945-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P23945-1.199.199", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P23945-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P23945-1.216.216", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.206.206", "start_pos": 206, "end_pos": 206, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "HNCAFNGTQLDELNLSDNNN", "down_seq": "EELPNDVFHGASGPVILDIS", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NNL->NNS).", "chr_id": "2", "chr_pos": "48982963", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L206", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P23945-1.191.191", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P23945-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P23945-1.199.199", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P23945-1.201.201", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P23945-1.216.216", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.216.216", "start_pos": 216, "end_pos": 216, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "DELNLSDNNNLEELPNDVFH", "down_seq": "ASGPVILDISRTRIHSLPSY", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "48982934", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G216", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P23945-1.199.199", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P23945-1.201.201", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P23945-1.206.206", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.21.21", "start_pos": 21, "end_pos": 21, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MALLLVSLLAFLSLGSGCHH", "down_seq": "ICHCSNRVFLCQESKVTEIP", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "2", "chr_pos": "49154356", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R21", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "49154357", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R21", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "P23945-1.36.36", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.248.248", "start_pos": 248, "end_pos": 248, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TRIHSLPSYGLENLKKLRAR", "down_seq": "TYNLKKLPTLEKLVALMEAS", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "48968809", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S248", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "P23945-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P23945-1.263.263", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.260.260", "start_pos": 260, "end_pos": 260, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "NLKKLRARSTYNLKKLPTLE", "down_seq": "LVALMEASLTYPSHCCAFAN", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "48968773", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K260", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P23945-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P23945-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P23945-1.273.273", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.263.263", "start_pos": 263, "end_pos": 263, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "KLRARSTYNLKKLPTLEKLV", "down_seq": "LMEASLTYPSHCCAFANWRR", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "2", "chr_pos": "48968765", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A263", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P23945-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P23945-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P23945-1.273.273", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.295.295", "start_pos": 295, "end_pos": 295, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2103994032", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2103994032", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2103994032", "url": "https://www.ensembl.org/id/rs2103994032", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1024473065", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1024473065", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1024473065", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1024473065#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1024473065", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1024473065", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CCAFANWRRQISELHPICNK", "down_seq": "ILRQEVDYMTQARGQRSSLA", "snv": [ { "evidence": [ { "id": "rs2103994032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2103994032" }, { "id": "rs2103994032", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2103994032" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NKS->NKF).", "chr_id": "2", "chr_pos": "48963937", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S295", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1024473065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1024473065" }, { "id": "rs1024473065", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1024473065#frequency_tab" }, { "id": "rs1024473065", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1024473065" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NKS->NKP).", "chr_id": "2", "chr_pos": "48963938", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S295", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P23945-1.293.293", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P23945-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P23945-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P23945-1.312.312", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.299.299", "start_pos": 299, "end_pos": 299, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "ANWRRQISELHPICNKSILR", "down_seq": "EVDYMTQARGQRSSLAEDNE", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "48963924", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Q299", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "P23945-1.293.293", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P23945-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P23945-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P23945-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P23945-1.318.318", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.307.307", "start_pos": 307, "end_pos": 307, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ELHPICNKSILRQEVDYMTQ", "down_seq": "RGQRSSLAEDNESSYSRGFD", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "48963902", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A307", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P23945-1.293.293", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P23945-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P23945-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P23945-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P23945-1.318.318", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P23945-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P23945-1.321.321", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.312.312", "start_pos": 312, "end_pos": 312, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CNKSILRQEVDYMTQARGQR", "down_seq": "SLAEDNESSYSRGFDMTYTE", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "48963886", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S312", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P23945-1.293.293", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P23945-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P23945-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P23945-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P23945-1.318.318", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P23945-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P23945-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P23945-1.330.330", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.320.320", "start_pos": 320, "end_pos": 320, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1674352716", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1674352716", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1674352716", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1674352716#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EVDYMTQARGQRSSLAEDNE", "down_seq": "SYSRGFDMTYTEFDYDLCNE", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NES->NEF).", "chr_id": "2", "chr_pos": "48963862", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S320", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1674352716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1674352716" }, { "id": "rs1674352716", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1674352716#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NES->NEP).", "chr_id": "2", "chr_pos": "48963863", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S320", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P23945-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P23945-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P23945-1.318.318", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P23945-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P23945-1.330.330", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P23945-1.335.335", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.321.321", "start_pos": 321, "end_pos": 321, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1444566790", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1444566790", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1444566790", "url": "https://www.ensembl.org/id/rs1444566790", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VDYMTQARGQRSSLAEDNES", "down_seq": "YSRGFDMTYTEFDYDLCNEV", "snv": [ { "evidence": [ { "id": "rs1444566790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1444566790" }, { "id": "rs1444566790", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1444566790" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SYS->NYS).", "chr_id": "2", "chr_pos": "48963859", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S321", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P23945-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P23945-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P23945-1.318.318", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P23945-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P23945-1.330.330", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P23945-1.335.335", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.343.343", "start_pos": 343, "end_pos": 343, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SRGFDMTYTEFDYDLCNEVV", "down_seq": "VTCSPKPDAFNPCEDIMGYN", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "2", "chr_pos": "48963794", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D343", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P23945-1.330.330", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P23945-1.335.335", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P23945-1.355.355", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.355.355", "start_pos": 355, "end_pos": 355, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1674344998", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1674344998", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1674344998", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1674344998", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "YDLCNEVVDVTCSPKPDAFN", "down_seq": "CEDIMGYNILRVLIWFISIL", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPC->NLC).", "chr_id": "2", "chr_pos": "48963757", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P355", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPC->NQC).", "chr_id": "2", "chr_pos": "48963757", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P355", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1674344998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1674344998" }, { "id": "rs1674344998", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1674344998" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPC->NTC).", "chr_id": "2", "chr_pos": "48963758", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P355", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P23945-1.335.335", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P23945-1.343.343", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.36.36", "start_pos": 36, "end_pos": 36, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SGCHHRICHCSNRVFLCQES", "down_seq": "VTEIPSDLPRNAIELRFVLT", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KVT->NVT).", "chr_id": "2", "chr_pos": "49154310", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K36", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P23945-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P23945-1.49.49", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.382.382", "start_pos": 382, "end_pos": 382, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs377596075", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377596075", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs377596075", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377596075", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs377596075", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377596075#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs377596075", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377596075", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "YNILRVLIWFISILAITGNI", "down_seq": "VLVILTTSQYKLTVPRFLMC", "snv": [ { "evidence": [ { "id": "rs377596075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377596075" }, { "id": "rs377596075", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377596075" }, { "id": "rs377596075", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377596075#frequency_tab" }, { "id": "rs377596075", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377596075" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NII->NIT).", "chr_id": "2", "chr_pos": "48963676", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I382", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080493", "recommended_name": { "id": "DOID:0080493", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080493", "name": "ovarian dysgenesis 1", "description": "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16." }, "synonyms": [ { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ovarian dysgenesis 1", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ODG1", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ovarian dysgenesis 1", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "XXGD", "description": "" }, { "id": "MIM:233300", "resource": "MIM", "url": "https://www.omim.org/entry/233300", "name": "Ovarian dysgenesis 1", "description": "Ovarian dysgenesis 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080493", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080493" }, { "id": "0080493", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080493" } ] }, { "disease_id": "DOID:14450", "recommended_name": { "id": "DOID:14450", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14450", "name": "46 XX gonadal dysgenesis", "description": "A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female." }, "synonyms": [ { "id": "DOID:14450", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14450", "name": "ovarian dysgenesis", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ovarian dysgenesis 1", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ODG1", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ovarian dysgenesis 1", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "XXGD", "description": "" }, { "id": "MIM:233300", "resource": "MIM", "url": "https://www.omim.org/entry/233300", "name": "Ovarian dysgenesis 1", "description": "Ovarian dysgenesis 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "14450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14450" } ] }, { "disease_id": "DOID:5425", "recommended_name": { "id": "DOID:5425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5425", "name": "ovarian hyperstimulation syndrome", "description": "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology." }, "synonyms": [ { "id": "DOID:5425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5425", "name": "secondary Meig's syndrome", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "ovarian hyperstimulation syndrome", "description": "A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries." }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "OHSS", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "ovarian hyperstimulation syndrome", "description": "" }, { "id": "MIM:608115", "resource": "MIM", "url": "https://www.omim.org/entry/608115", "name": "Ovarian hyperstimulation syndrome", "description": "Ovarian hyperstimulation syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "5425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5425" } ] } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "P23945-1.393.393", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.393.393", "start_pos": 393, "end_pos": 393, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SILAITGNIIVLVILTTSQY", "down_seq": "LTVPRFLMCNLAFADLCIGI", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KLT->NLT).", "chr_id": "2", "chr_pos": "48963642", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K393", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P23945-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P23945-1.405.405", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P23945-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P23945-1.409.409", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.405.405", "start_pos": 405, "end_pos": 405, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1328627478", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1328627478", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1328627478", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1328627478#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1328627478", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1328627478", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1328627478", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1328627478", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VILTTSQYKLTVPRFLMCNL", "down_seq": "FADLCIGIYLLLIASVDIHT", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" }, { "id": "rs1328627478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1328627478" }, { "id": "rs1328627478", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1328627478#frequency_tab" }, { "id": "rs1328627478", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1328627478" }, { "id": "rs1328627478", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1328627478" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "2", "chr_pos": "48963608", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A405", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P23945-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P23945-1.408.408", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P23945-1.409.409", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.408.408", "start_pos": 408, "end_pos": 408, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "TTSQYKLTVPRFLMCNLAFA", "down_seq": "LCIGIYLLLIASVDIHTKSQ", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DLC->NLC).", "chr_id": "2", "chr_pos": "48963599", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D408", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P23945-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P23945-1.405.405", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P23945-1.409.409", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.409.409", "start_pos": 409, "end_pos": 409, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "TSQYKLTVPRFLMCNLAFAD", "down_seq": "CIGIYLLLIASVDIHTKSQY", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "48963596", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L409", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P23945-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P23945-1.405.405", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P23945-1.408.408", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.49.49", "start_pos": 49, "end_pos": 49, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs751588754", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751588754", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751588754", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751588754", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751588754", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751588754#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs751588754", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751588754", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "VFLCQESKVTEIPSDLPRNA", "down_seq": "ELRFVLTKLRVIQKGAFSGF", "snv": [ { "evidence": [ { "id": "rs751588754", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751588754" }, { "id": "rs751588754", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751588754" }, { "id": "rs751588754", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751588754#frequency_tab" }, { "id": "rs751588754", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751588754" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAI->NAT).", "chr_id": "2", "chr_pos": "49154272", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I49", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P23945-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P23945-1.59.59", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.515.515", "start_pos": 515, "end_pos": 515, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs763325688", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763325688", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763325688", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763325688", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763325688", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763325688", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IFAFAAALFPIFGISSYMKV", "down_seq": "ICLPMDIDSPLSQLYVMSLL", "snv": [ { "evidence": [ { "id": "rs763325688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763325688" }, { "id": "rs763325688", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763325688" }, { "id": "rs763325688", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763325688" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SIC->NIC).", "chr_id": "2", "chr_pos": "48963277", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S515", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.566.566", "start_pos": 566, "end_pos": 566, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CGCYIHIYLTVRNPNIVSSS", "down_seq": "DTRIAKRMAMLIFTDFLCMA", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SDT->NDT).", "chr_id": "2", "chr_pos": "48963124", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S566", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.590.590", "start_pos": 590, "end_pos": 590, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "IAKRMAMLIFTDFLCMAPIS", "down_seq": "FAISASLKVPLITVSKAKIL", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "48963051", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "F590", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.59.59", "start_pos": 59, "end_pos": 59, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EIPSDLPRNAIELRFVLTKL", "down_seq": "VIQKGAFSGFGDLEKIEISQ", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "49068268", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R59", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "P23945-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P23945-1.71.71", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.617.617", "start_pos": 617, "end_pos": 617, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1415870940", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415870940", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1415870940", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1415870940#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1415870940", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415870940", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "LKVPLITVSKAKILLVLFHP", "down_seq": "NSCANPFLYAIFTKNFRRDF", "snv": [ { "evidence": [ { "id": "rs1415870940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415870940" }, { "id": "rs1415870940", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1415870940#frequency_tab" }, { "id": "rs1415870940", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415870940" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (INS->NNS).", "chr_id": "2", "chr_pos": "48962971", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I617", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "P23945-1.628.628", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P23945-1.634.634", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.628.628", "start_pos": 628, "end_pos": 628, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "KILLVLFHPINSCANPFLYA", "down_seq": "FTKNFRRDFFILLSKCGCYE", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (IFT->NFT).", "chr_id": "2", "chr_pos": "48962938", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "I628", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P23945-1.617.617", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P23945-1.634.634", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.634.634", "start_pos": 634, "end_pos": 634, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs769165783", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769165783", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs769165783", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769165783", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs769165783", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769165783#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs769165783", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769165783", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs769165783", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs769165783", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FHPINSCANPFLYAIFTKNF", "down_seq": "RDFFILLSKCGCYEMQAQIY", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" }, { "id": "rs769165783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769165783" }, { "id": "rs769165783", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769165783" }, { "id": "rs769165783", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769165783#frequency_tab" }, { "id": "rs769165783", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769165783" }, { "id": "rs769165783", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs769165783" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NFR->NFC).", "chr_id": "2", "chr_pos": "48962921", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R634", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "3", "frequency": "0.4", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "2", "chr_pos": "48962920", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R634", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P23945-1.617.617", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P23945-1.628.628", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.671.671", "start_pos": 671, "end_pos": 671, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "AQIYRTETSSTVHNTHPRNG", "down_seq": "CSSAPRVTSGSTYILVPLSH", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HCS->NCS).", "chr_id": "2", "chr_pos": "48962810", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H671", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "P23945-1.680.680", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P23945-1.680.680", "start_pos": 680, "end_pos": 680, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men: identification and characterization of two discrete FSH receptor isoforms.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1999-02", "authors": "Simoni M, Gromoll J, H\u00f6ppner W, Kamischke A, Krafft T, St\u00e4hle D, Nieschlag E", "evidence": [ { "database": "dbSNP", "id": "rs6166", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6166" } ], "reference": [ { "type": "PubMed", "id": "10022448", "url": "https://glygen.org/publication/PubMed/10022448" } ] }, { "title": "Association between mutations of the follicle-stimulating-hormone receptor and repeated twinning.", "journal": "Lancet (London, England)", "date": "2000-09-09", "authors": "Al-Hendy A, Moshynska O, Saxena A, Feyles V", "evidence": [ { "database": "dbSNP", "id": "rs6166", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6166" } ], "reference": [ { "type": "PubMed", "id": "11036902", "url": "https://glygen.org/publication/PubMed/11036902" } ] }, { "title": "Prediction of severity of symptoms in iatrogenic ovarian hyperstimulation syndrome by follicle-stimulating hormone receptor Ser680Asn polymorphism.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2004-12", "authors": "Daelemans Caroline, Smits Guillaume, de Maertelaer Viviane, Costagliola Sabine, Englert Yvon, Vassart Gilbert, Delbaere Anne", "evidence": [ { "database": "dbSNP", "id": "rs6166", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6166" } ], "reference": [ { "type": "PubMed", "id": "15579795", "url": "https://glygen.org/publication/PubMed/15579795" } ] }, { "title": "A common single nucleotide polymorphism in exon 10 of the human follicle stimulating hormone receptor is a major determinant of length and hormonal dynamics of the menstrual cycle.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2005-08", "authors": "Greb R R, Grieshaber K, Gromoll J, Sonntag B, Nieschlag E, Kiesel L, Simoni M", "evidence": [ { "database": "dbSNP", "id": "rs6166", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6166" } ], "reference": [ { "type": "PubMed", "id": "15886248", "url": "https://glygen.org/publication/PubMed/15886248" } ] }, { "title": "An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1996", "authors": "Gromoll J, Simoni M, Nieschlag E", "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" }, { "database": "dbSNP", "id": "rs6166", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6166" } ], "reference": [ { "type": "PubMed", "id": "8636335", "url": "https://glygen.org/publication/PubMed/8636335" } ] } ], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs6166", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6166", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs6166", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs6166", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs6166", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6166", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs6166", "url": "https://www.ncbi.nlm.nih.gov/snp/rs6166#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs6166", "url": "http://gnomad.broadinstitute.org/awesome?query=rs6166", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "10022448", "url": "https://glygen.org/publication/PubMed/10022448", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11036902", "url": "https://glygen.org/publication/PubMed/11036902", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15579795", "url": "https://glygen.org/publication/PubMed/15579795", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15886248", "url": "https://glygen.org/publication/PubMed/15886248", "database": "PubMed", "categories": [ "Other" ] }, { "id": "8636335", "url": "https://glygen.org/publication/PubMed/8636335", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs6166", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs6166", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "STVHNTHPRNGHCSSAPRVT", "down_seq": "GSTYILVPLSHLAQN", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" }, { "id": "rs6166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6166" }, { "id": "rs6166", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs6166" }, { "id": "rs6166", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6166" }, { "id": "rs6166", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs6166#frequency_tab" }, { "id": "rs6166", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs6166" }, { "id": "10022448", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/10022448" }, { "id": "11036902", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11036902" }, { "id": "15579795", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15579795" }, { "id": "15886248", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15886248" }, { "id": "8636335", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8636335" }, { "id": "rs6166", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs6166" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "2", "chr_pos": "48962782", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S680", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:0080493", "recommended_name": { "id": "DOID:0080493", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080493", "name": "ovarian dysgenesis 1", "description": "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16." }, "synonyms": [ { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ovarian dysgenesis 1", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ODG1", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ovarian dysgenesis 1", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "XXGD", "description": "" }, { "id": "MIM:233300", "resource": "MIM", "url": "https://www.omim.org/entry/233300", "name": "Ovarian dysgenesis 1", "description": "Ovarian dysgenesis 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080493", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080493" }, { "id": "0080493", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080493" } ] }, { "disease_id": "DOID:14450", "recommended_name": { "id": "DOID:14450", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14450", "name": "46 XX gonadal dysgenesis", "description": "A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female." }, "synonyms": [ { "id": "DOID:14450", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14450", "name": "ovarian dysgenesis", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ovarian dysgenesis 1", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ODG1", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ovarian dysgenesis 1", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "XXGD", "description": "" }, { "id": "MIM:233300", "resource": "MIM", "url": "https://www.omim.org/entry/233300", "name": "Ovarian dysgenesis 1", "description": "Ovarian dysgenesis 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "14450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14450" } ] }, { "disease_id": "DOID:5425", "recommended_name": { "id": "DOID:5425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5425", "name": "ovarian hyperstimulation syndrome", "description": "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology." }, "synonyms": [ { "id": "DOID:5425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5425", "name": "secondary Meig's syndrome", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "ovarian hyperstimulation syndrome", "description": "A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries." }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "OHSS", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "ovarian hyperstimulation syndrome", "description": "" }, { "id": "MIM:608115", "resource": "MIM", "url": "https://www.omim.org/entry/608115", "name": "Ovarian hyperstimulation syndrome", "description": "Ovarian hyperstimulation syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "5425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5425" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "P23945-1.671.671", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P23945-1.71.71", "start_pos": 71, "end_pos": 71, "uniprot_canonical_ac": "P23945-1", "length": 695, "uniprot_id": "FSHR_HUMAN", "protein_name": "Follicle-stimulating hormone receptor", "refseq_ac": "NP_000136", "refseq_name": "follicle-stimulating hormone receptor isoform 1 precursor", "gene_name": "FSHR", "gene_names_uniprotkb": "FSHR; LGR1", "gene_names_refseq": "FSHR1; FSHRO; FSHR; LGR1; ODG1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprotkb/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P23945", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LRFVLTKLRVIQKGAFSGFG", "down_seq": "LEKIEISQNDVLEVIEADVF", "snv": [ { "evidence": [ { "id": "P23945", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P23945" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "49068231", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D71", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "330", "end_pos": "330" }, { "start_pos": "335", "end_pos": "335" } ] }, { "type": "snv", "site_list": [ { "start_pos": "273", "end_pos": "273" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "617", "end_pos": "617" }, { "start_pos": "628", "end_pos": "628" }, { "start_pos": "634", "end_pos": "634" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "680", "end_pos": "680" }, { "start_pos": "71", "end_pos": "71" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P23945-1.59.59", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BVP2-1.207.207", "start_pos": 207, "end_pos": 207, "uniprot_canonical_ac": "Q9BVP2-1", "length": 549, "uniprot_id": "GNL3_HUMAN", "protein_name": "Guanine nucleotide-binding protein-like 3", "refseq_ac": "NP_055181", "refseq_name": "guanine nucleotide-binding protein-like 3 isoform 1", "gene_name": "GNL3", "gene_names_uniprotkb": "GNL3; E2IG3; NS", "gene_names_refseq": "C77032; E2IG3; GNL3; NNP47; NS; Nug1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9BVP2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BVP2" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9BVP2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BVP2" }, { "database": "O-GlcNAc Atlas", "id": "Q9BVP2", "url": "https://oglcnac.org/atlas/detail/Q9BVP2" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9BVP2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BVP2" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9BVP2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BVP2" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9BVP2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BVP2" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9BVP2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BVP2" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9BVP2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BVP2" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9BVP2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BVP2" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9BVP2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BVP2" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9BVP2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BVP2", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9BVP2", "url": "https://oglcnac.org/atlas/detail/Q9BVP2", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs772491699", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772491699", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772491699", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772491699", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772491699", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772491699", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NLESWLNYLKKELPTVVFRA", "down_seq": "TKPKDKGKITKRVKAKKNAA", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser207", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q9BVP2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BVP2" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "Q9BVP2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9BVP2" } ] } ], "snv": [ { "evidence": [ { "id": "rs772491699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772491699" }, { "id": "rs772491699", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772491699" }, { "id": "rs772491699", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772491699" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->L).", "chr_id": "3", "chr_pos": "52690670", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S207", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "207", "end_pos": "207" } ] }, { "type": "snv", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q9BVP2-1.227.227", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BVP2-1.227.227", "start_pos": 227, "end_pos": 227, "uniprot_canonical_ac": "Q9BVP2-1", "length": 549, "uniprot_id": "GNL3_HUMAN", "protein_name": "Guanine nucleotide-binding protein-like 3", "refseq_ac": "NP_055181", "refseq_name": "guanine nucleotide-binding protein-like 3 isoform 1", "gene_name": "GNL3", "gene_names_uniprotkb": "GNL3; E2IG3; NS", "gene_names_refseq": "C77032; E2IG3; GNL3; NNP47; NS; Nug1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2097326674", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2097326674", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2097326674", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2097326674#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs2097326674", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2097326674", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "STKPKDKGKITKRVKAKKNA", "down_seq": "PFRSEVCFGKEGLWKLLGGF", "snv": [ { "evidence": [ { "id": "rs2097326674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2097326674" }, { "id": "rs2097326674", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2097326674#frequency_tab" }, { "id": "rs2097326674", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2097326674" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAA->NAT).", "chr_id": "3", "chr_pos": "52690969", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A227", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "207", "end_pos": "207" } ] }, { "type": "snv", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9BVP2-1.207.207", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BVP2-1.283.283", "start_pos": 283, "end_pos": 283, "uniprot_canonical_ac": "Q9BVP2-1", "length": 549, "uniprot_id": "GNL3_HUMAN", "protein_name": "Guanine nucleotide-binding protein-like 3", "refseq_ac": "NP_055181", "refseq_name": "guanine nucleotide-binding protein-like 3 isoform 1", "gene_name": "GNL3", "gene_names_uniprotkb": "GNL3; E2IG3; NS", "gene_names_refseq": "C77032; E2IG3; GNL3; NNP47; NS; Nug1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BVP2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BVP2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2154099661", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2154099661", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2154099661", "url": "https://www.ensembl.org/id/rs2154099661", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "PNVGKSSIINSLKQEQMCNV", "down_seq": "VSMGLTRSMQVVPLDKQITI", "snv": [ { "evidence": [ { "id": "Q9BVP2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BVP2" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NVG->NVC).", "chr_id": "3", "chr_pos": "52691607", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G283", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2154099661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2154099661" }, { "id": "rs2154099661", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2154099661" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVG->NVS).", "chr_id": "3", "chr_pos": "52691607", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G283", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "207", "end_pos": "207" } ] }, { "type": "snv", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9BVP2-1.273.273", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BVP2-1.310.310", "start_pos": 310, "end_pos": 310, "uniprot_canonical_ac": "Q9BVP2-1", "length": 549, "uniprot_id": "GNL3_HUMAN", "protein_name": "Guanine nucleotide-binding protein-like 3", "refseq_ac": "NP_055181", "refseq_name": "guanine nucleotide-binding protein-like 3 isoform 1", "gene_name": "GNL3", "gene_names_uniprotkb": "GNL3; E2IG3; NS", "gene_names_refseq": "C77032; E2IG3; GNL3; NNP47; NS; Nug1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs971100528", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs971100528", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs971100528", "url": "https://www.ensembl.org/id/rs971100528", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "RSMQVVPLDKQITIIDSPSF", "down_seq": "VSPLNSSSALALRSPASIEV", "snv": [ { "evidence": [ { "id": "rs971100528", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs971100528" }, { "id": "rs971100528", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs971100528" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IVS->NVS).", "chr_id": "3", "chr_pos": "52692931", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I310", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "207", "end_pos": "207" } ] }, { "type": "snv", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BVP2-1.514.514", "start_pos": 514, "end_pos": 514, "uniprot_canonical_ac": "Q9BVP2-1", "length": 549, "uniprot_id": "GNL3_HUMAN", "protein_name": "Guanine nucleotide-binding protein-like 3", "refseq_ac": "NP_055181", "refseq_name": "guanine nucleotide-binding protein-like 3 isoform 1", "gene_name": "GNL3", "gene_names_uniprotkb": "GNL3; E2IG3; NS", "gene_names_refseq": "C77032; E2IG3; GNL3; NNP47; NS; Nug1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BVP2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BVP2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "TVDEEVDENSSGMFAAEETG", "down_seq": "ALSEETTAGEQSTRSFILDK", "snv": [ { "evidence": [ { "id": "Q9BVP2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BVP2" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "52694077", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E514", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "207", "end_pos": "207" } ] }, { "type": "snv", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9BVP2-1.494.494", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9BVP2-1.504.504", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9BVP2-1.517.517", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9BVP2-1.529.529", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BVP2-1.101.101", "start_pos": 101, "end_pos": 101, "uniprot_canonical_ac": "Q9BVP2-1", "length": 549, "uniprot_id": "GNL3_HUMAN", "protein_name": "Guanine nucleotide-binding protein-like 3", "refseq_ac": "NP_055181", "refseq_name": "guanine nucleotide-binding protein-like 3 isoform 1", "gene_name": "GNL3", "gene_names_uniprotkb": "GNL3; E2IG3; NS", "gene_names_refseq": "C77032; E2IG3; GNL3; NNP47; NS; Nug1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DRQKELEKKRKLETNPDIKP", "down_seq": "NVEPMEKEFGLCKTENKAKS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" } ], "site_lbl": "Ser101" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "207", "end_pos": "207" } ] }, { "type": "snv", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BVP2-1.168.168", "start_pos": 168, "end_pos": 168, "uniprot_canonical_ac": "Q9BVP2-1", "length": 549, "uniprot_id": "GNL3_HUMAN", "protein_name": "Guanine nucleotide-binding protein-like 3", "refseq_ac": "NP_055181", "refseq_name": "guanine nucleotide-binding protein-like 3 isoform 1", "gene_name": "GNL3", "gene_names_uniprotkb": "GNL3; E2IG3; NS", "gene_names_refseq": "C77032; E2IG3; GNL3; NNP47; NS; Nug1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deciphering the landscape of phosphorylated HLA-II ligands.", "journal": "iScience", "date": "2022-05-20", "authors": "Solleder Marthe, Racle Julien, Guillaume Philippe, Coukos George, Bassani-Sternberg Michal, Gfeller David", "evidence": [ { "database": "iPTMnet", "id": "Q9BVP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2" } ], "reference": [ { "type": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ] } ], "crossref": [ { "id": "Q9BVP2", "url": "https://www.iedb.org/epitope/Q9BVP2", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q9BVP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LDARDPLGCRCPQVEEAIVQ", "down_seq": "GQKKLVLILNKSDLVPKENL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q9BVP2", "url": "https://www.iedb.org/epitope/Q9BVP2" }, { "database": "iPTMnet", "id": "Q9BVP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Ser168" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "207", "end_pos": "207" } ] }, { "type": "snv", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BVP2-1.250.250", "start_pos": 250, "end_pos": 250, "uniprot_canonical_ac": "Q9BVP2-1", "length": 549, "uniprot_id": "GNL3_HUMAN", "protein_name": "Guanine nucleotide-binding protein-like 3", "refseq_ac": "NP_055181", "refseq_name": "guanine nucleotide-binding protein-like 3 isoform 1", "gene_name": "GNL3", "gene_names_uniprotkb": "GNL3; E2IG3; NS", "gene_names_refseq": "C77032; E2IG3; GNL3; NNP47; NS; Nug1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9BVP2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9BVP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RSEVCFGKEGLWKLLGGFQE", "down_seq": "CSKAIRVGVIGFPNVGKSSI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9BVP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr250" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "207", "end_pos": "207" } ] }, { "type": "snv", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BVP2-1.273.273", "start_pos": 273, "end_pos": 273, "uniprot_canonical_ac": "Q9BVP2-1", "length": 549, "uniprot_id": "GNL3_HUMAN", "protein_name": "Guanine nucleotide-binding protein-like 3", "refseq_ac": "NP_055181", "refseq_name": "guanine nucleotide-binding protein-like 3 isoform 1", "gene_name": "GNL3", "gene_names_uniprotkb": "GNL3; E2IG3; NS", "gene_names_refseq": "C77032; E2IG3; GNL3; NNP47; NS; Nug1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9BVP2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9BVP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KAIRVGVIGFPNVGKSSIIN", "down_seq": "LKQEQMCNVGVSMGLTRSMQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9BVP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser273" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "207", "end_pos": "207" } ] }, { "type": "snv", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q9BVP2-1.283.283", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BVP2-1.490.490", "start_pos": 490, "end_pos": 490, "uniprot_canonical_ac": "Q9BVP2-1", "length": 549, "uniprot_id": "GNL3_HUMAN", "protein_name": "Guanine nucleotide-binding protein-like 3", "refseq_ac": "NP_055181", "refseq_name": "guanine nucleotide-binding protein-like 3 isoform 1", "gene_name": "GNL3", "gene_names_uniprotkb": "GNL3; E2IG3; NS", "gene_names_refseq": "C77032; E2IG3; GNL3; NNP47; NS; Nug1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" }, { "database": "iPTMnet", "id": "Q9BVP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q9BVP2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9BVP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HEELPKRKERKQEEREDDKD", "down_seq": "DQETVDEEVDENSSGMFAAE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9BVP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser490" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "207", "end_pos": "207" } ] }, { "type": "snv", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q9BVP2-1.494.494", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9BVP2-1.504.504", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BVP2-1.494.494", "start_pos": 494, "end_pos": 494, "uniprot_canonical_ac": "Q9BVP2-1", "length": 549, "uniprot_id": "GNL3_HUMAN", "protein_name": "Guanine nucleotide-binding protein-like 3", "refseq_ac": "NP_055181", "refseq_name": "guanine nucleotide-binding protein-like 3 isoform 1", "gene_name": "GNL3", "gene_names_uniprotkb": "GNL3; E2IG3; NS", "gene_names_refseq": "C77032; E2IG3; GNL3; NNP47; NS; Nug1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q9BVP2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q9BVP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PKRKERKQEEREDDKDSDQE", "down_seq": "VDEEVDENSSGMFAAEETGE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9BVP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Thr494" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "207", "end_pos": "207" } ] }, { "type": "snv", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9BVP2-1.490.490", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9BVP2-1.504.504", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9BVP2-1.514.514", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BVP2-1.504.504", "start_pos": 504, "end_pos": 504, "uniprot_canonical_ac": "Q9BVP2-1", "length": 549, "uniprot_id": "GNL3_HUMAN", "protein_name": "Guanine nucleotide-binding protein-like 3", "refseq_ac": "NP_055181", "refseq_name": "guanine nucleotide-binding protein-like 3 isoform 1", "gene_name": "GNL3", "gene_names_uniprotkb": "GNL3; E2IG3; NS", "gene_names_refseq": "C77032; E2IG3; GNL3; NNP47; NS; Nug1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "REDDKDSDQETVDEEVDENS", "down_seq": "GMFAAEETGEALSEETTAGE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" } ], "site_lbl": "Ser504" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "207", "end_pos": "207" } ] }, { "type": "snv", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9BVP2-1.490.490", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9BVP2-1.494.494", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9BVP2-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9BVP2-1.517.517", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BVP2-1.517.517", "start_pos": 517, "end_pos": 517, "uniprot_canonical_ac": "Q9BVP2-1", "length": 549, "uniprot_id": "GNL3_HUMAN", "protein_name": "Guanine nucleotide-binding protein-like 3", "refseq_ac": "NP_055181", "refseq_name": "guanine nucleotide-binding protein-like 3 isoform 1", "gene_name": "GNL3", "gene_names_uniprotkb": "GNL3; E2IG3; NS", "gene_names_refseq": "C77032; E2IG3; GNL3; NNP47; NS; Nug1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" }, { "database": "iPTMnet", "id": "Q9BVP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9BVP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EEVDENSSGMFAAEETGEAL", "down_seq": "EETTAGEQSTRSFILDKIIE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9BVP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2" } ], "site_lbl": "Ser517" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "207", "end_pos": "207" } ] }, { "type": "snv", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9BVP2-1.504.504", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9BVP2-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9BVP2-1.529.529", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BVP2-1.529.529", "start_pos": 529, "end_pos": 529, "uniprot_canonical_ac": "Q9BVP2-1", "length": 549, "uniprot_id": "GNL3_HUMAN", "protein_name": "Guanine nucleotide-binding protein-like 3", "refseq_ac": "NP_055181", "refseq_name": "guanine nucleotide-binding protein-like 3 isoform 1", "gene_name": "GNL3", "gene_names_uniprotkb": "GNL3; E2IG3; NS", "gene_names_refseq": "C77032; E2IG3; GNL3; NNP47; NS; Nug1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" }, { "database": "iPTMnet", "id": "Q9BVP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9BVP2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9BVP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AEETGEALSEETTAGEQSTR", "down_seq": "FILDKIIEEDDAYDFSTDYV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9BVP2", "url": "https://www.uniprot.org/uniprotkb/Q9BVP2" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q9BVP2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BVP2" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser529" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "207", "end_pos": "207" } ] }, { "type": "snv", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "101", "end_pos": "101" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "517", "end_pos": "517" }, { "start_pos": "529", "end_pos": "529" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9BVP2-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9BVP2-1.517.517", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P54105-1.193.193", "start_pos": 193, "end_pos": 193, "uniprot_canonical_ac": "P54105-1", "length": 237, "uniprot_id": "ICLN_HUMAN", "protein_name": "Methylosome subunit pICln", "refseq_ac": "NP_001284", "refseq_name": "methylosome subunit pICln isoform a", "gene_name": "CLNS1A", "gene_names_uniprotkb": "CLNS1A; CLCI; ICLN", "gene_names_refseq": "CLCI; CLNS1A; CLNS1B; ICln", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "O-GlcNAcylation Suppresses the Ion Current IClswell by Preventing the Binding of the Protein ICln to alpha-Integrin.", "journal": "Frontiers in cell and developmental biology", "date": "2020", "authors": "Costa R, Remigante A, Civello DA, Bernardinelli E, Szabo Z, Morabito R, Marino A, Sarikas A, Patsch W, Paulmichl M, Janaky T, Miseta A, Nagy T, Dossena S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P54105", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P54105" }, { "database": "O-GlcNAc Atlas", "id": "P54105", "url": "https://oglcnac.org/atlas/detail/P54105" } ], "reference": [ { "type": "PubMed", "id": "33330510", "url": "https://glygen.org/publication/PubMed/33330510" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.", "journal": "Science", "date": "2007", "authors": "Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] } ], "crossref": [ { "id": "33330510", "url": "https://glygen.org/publication/PubMed/33330510", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P54105", "url": "https://oglcnac.org/atlas/detail/P54105", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GLSHLTAEGQATLERLEGML", "down_seq": "QSVSSQYNMAGVRTEDSIRD", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser193", "evidence": [ { "id": "33330510", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33330510" }, { "id": "P54105", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P54105" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ], "site_lbl": "Ser193" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "223", "end_pos": "223" } ] } ], "categories": [ "glycosylation_flag", "phosphorylation_flag" ], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P54105-1.195.195", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P54105-1.197.197", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P54105-1.198.198", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P54105-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P54105-1.207.207", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P54105-1.210.210", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P54105-1.195.195", "start_pos": 195, "end_pos": 195, "uniprot_canonical_ac": "P54105-1", "length": 237, "uniprot_id": "ICLN_HUMAN", "protein_name": "Methylosome subunit pICln", "refseq_ac": "NP_001284", "refseq_name": "methylosome subunit pICln isoform a", "gene_name": "CLNS1A", "gene_names_uniprotkb": "CLNS1A; CLCI; ICLN", "gene_names_refseq": "CLCI; CLNS1A; CLNS1B; ICln", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "O-GlcNAcylation Suppresses the Ion Current IClswell by Preventing the Binding of the Protein ICln to alpha-Integrin.", "journal": "Frontiers in cell and developmental biology", "date": "2020", "authors": "Costa R, Remigante A, Civello DA, Bernardinelli E, Szabo Z, Morabito R, Marino A, Sarikas A, Patsch W, Paulmichl M, Janaky T, Miseta A, Nagy T, Dossena S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P54105", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P54105" }, { "database": "O-GlcNAc Atlas", "id": "P54105", "url": "https://oglcnac.org/atlas/detail/P54105" } ], "reference": [ { "type": "PubMed", "id": "33330510", "url": "https://glygen.org/publication/PubMed/33330510" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "33330510", "url": "https://glygen.org/publication/PubMed/33330510", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P54105", "url": "https://oglcnac.org/atlas/detail/P54105", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SHLTAEGQATLERLEGMLSQ", "down_seq": "VSSQYNMAGVRTEDSIRDYE", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser195", "evidence": [ { "id": "33330510", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33330510" }, { "id": "P54105", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P54105" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "site_lbl": "Ser195" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "223", "end_pos": "223" } ] } ], "categories": [ "glycosylation_flag", "phosphorylation_flag" ], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P54105-1.193.193", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P54105-1.197.197", "categories": [ "glycosylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P54105-1.198.198", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P54105-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P54105-1.207.207", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P54105-1.210.210", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P54105-1.214.214", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P54105-1.197.197", "start_pos": 197, "end_pos": 197, "uniprot_canonical_ac": "P54105-1", "length": 237, "uniprot_id": "ICLN_HUMAN", "protein_name": "Methylosome subunit pICln", "refseq_ac": "NP_001284", "refseq_name": "methylosome subunit pICln isoform a", "gene_name": "CLNS1A", "gene_names_uniprotkb": "CLNS1A; CLCI; ICLN", "gene_names_refseq": "CLCI; CLNS1A; CLNS1B; ICln", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "O-GlcNAcylation Suppresses the Ion Current IClswell by Preventing the Binding of the Protein ICln to alpha-Integrin.", "journal": "Frontiers in cell and developmental biology", "date": "2020", "authors": "Costa R, Remigante A, Civello DA, Bernardinelli E, Szabo Z, Morabito R, Marino A, Sarikas A, Patsch W, Paulmichl M, Janaky T, Miseta A, Nagy T, Dossena S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P54105", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P54105" }, { "database": "O-GlcNAc Atlas", "id": "P54105", "url": "https://oglcnac.org/atlas/detail/P54105" } ], "reference": [ { "type": "PubMed", "id": "33330510", "url": "https://glygen.org/publication/PubMed/33330510" } ] } ], "crossref": [ { "id": "33330510", "url": "https://glygen.org/publication/PubMed/33330510", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P54105", "url": "https://oglcnac.org/atlas/detail/P54105", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LTAEGQATLERLEGMLSQSV", "down_seq": "SQYNMAGVRTEDSIRDYEDG", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser197", "evidence": [ { "id": "33330510", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33330510" }, { "id": "P54105", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P54105" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "223", "end_pos": "223" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "P54105-1.193.193", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P54105-1.195.195", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P54105-1.198.198", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P54105-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P54105-1.207.207", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P54105-1.210.210", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P54105-1.214.214", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P54105-1.198.198", "start_pos": 198, "end_pos": 198, "uniprot_canonical_ac": "P54105-1", "length": 237, "uniprot_id": "ICLN_HUMAN", "protein_name": "Methylosome subunit pICln", "refseq_ac": "NP_001284", "refseq_name": "methylosome subunit pICln isoform a", "gene_name": "CLNS1A", "gene_names_uniprotkb": "CLNS1A; CLCI; ICLN", "gene_names_refseq": "CLCI; CLNS1A; CLNS1B; ICln", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "O-GlcNAcylation Suppresses the Ion Current IClswell by Preventing the Binding of the Protein ICln to alpha-Integrin.", "journal": "Frontiers in cell and developmental biology", "date": "2020", "authors": "Costa R, Remigante A, Civello DA, Bernardinelli E, Szabo Z, Morabito R, Marino A, Sarikas A, Patsch W, Paulmichl M, Janaky T, Miseta A, Nagy T, Dossena S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P54105", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P54105" }, { "database": "O-GlcNAc Atlas", "id": "P54105", "url": "https://oglcnac.org/atlas/detail/P54105" } ], "reference": [ { "type": "PubMed", "id": "33330510", "url": "https://glygen.org/publication/PubMed/33330510" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "33330510", "url": "https://glygen.org/publication/PubMed/33330510", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P54105", "url": "https://oglcnac.org/atlas/detail/P54105", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TAEGQATLERLEGMLSQSVS", "down_seq": "QYNMAGVRTEDSIRDYEDGM", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser198", "evidence": [ { "id": "33330510", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33330510" }, { "id": "P54105", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P54105" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "site_lbl": "Ser198" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "223", "end_pos": "223" } ] } ], "categories": [ "glycosylation_flag", "phosphorylation_flag" ], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "P54105-1.193.193", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P54105-1.195.195", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P54105-1.197.197", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P54105-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P54105-1.207.207", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P54105-1.210.210", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P54105-1.214.214", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P54105-1.67.67", "start_pos": 67, "end_pos": 67, "uniprot_canonical_ac": "P54105-1", "length": 237, "uniprot_id": "ICLN_HUMAN", "protein_name": "Methylosome subunit pICln", "refseq_ac": "NP_001284", "refseq_name": "methylosome subunit pICln isoform a", "gene_name": "CLNS1A", "gene_names_uniprotkb": "CLNS1A; CLCI; ICLN", "gene_names_refseq": "CLCI; CLNS1A; CLNS1B; ICln", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P54105", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P54105" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "O-GlcNAcylation Suppresses the Ion Current IClswell by Preventing the Binding of the Protein ICln to alpha-Integrin.", "journal": "Frontiers in cell and developmental biology", "date": "2020", "authors": "Costa R, Remigante A, Civello DA, Bernardinelli E, Szabo Z, Morabito R, Marino A, Sarikas A, Patsch W, Paulmichl M, Janaky T, Miseta A, Nagy T, Dossena S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P54105", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P54105" }, { "database": "O-GlcNAc Atlas", "id": "P54105", "url": "https://oglcnac.org/atlas/detail/P54105" } ], "reference": [ { "type": "PubMed", "id": "33330510", "url": "https://glygen.org/publication/PubMed/33330510" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P54105", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P54105" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "P54105", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P54105" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "P54105", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P54105" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P54105", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P54105" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P54105", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P54105", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33330510", "url": "https://glygen.org/publication/PubMed/33330510", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P54105", "url": "https://oglcnac.org/atlas/detail/P54105", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1268877789", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1268877789", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1268877789", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1268877789#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1268877789", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1268877789", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LDGSGLGFSLEYPTISLHAL", "down_seq": "RDRSDCLGEHLYVMVNAKFE", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser67", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "P54105", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P54105" }, { "id": "33330510", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33330510" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "P54105", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P54105" } ] } ], "snv": [ { "evidence": [ { "id": "rs1268877789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1268877789" }, { "id": "rs1268877789", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1268877789#frequency_tab" }, { "id": "rs1268877789", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1268877789" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->A).", "chr_id": "11", "chr_pos": "77629826", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S67", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "223", "end_pos": "223" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P54105-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P54105-1.69.69", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P54105-1.203.203", "start_pos": 203, "end_pos": 203, "uniprot_canonical_ac": "P54105-1", "length": 237, "uniprot_id": "ICLN_HUMAN", "protein_name": "Methylosome subunit pICln", "refseq_ac": "NP_001284", "refseq_name": "methylosome subunit pICln isoform a", "gene_name": "CLNS1A", "gene_names_uniprotkb": "CLNS1A; CLCI; ICLN", "gene_names_refseq": "CLCI; CLNS1A; CLNS1B; ICln", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1419093098", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1419093098", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1419093098", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1419093098", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ATLERLEGMLSQSVSSQYNM", "down_seq": "GVRTEDSIRDYEDGMEVDTT", "snv": [ { "evidence": [ { "id": "rs1419093098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1419093098" }, { "id": "rs1419093098", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1419093098" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NMA->NMS).", "chr_id": "11", "chr_pos": "77622539", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A203", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "223", "end_pos": "223" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "P54105-1.193.193", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P54105-1.195.195", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P54105-1.197.197", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P54105-1.198.198", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P54105-1.207.207", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P54105-1.210.210", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P54105-1.214.214", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P54105-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P54105-1.223.223", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P54105-1.221.221", "start_pos": 221, "end_pos": 221, "uniprot_canonical_ac": "P54105-1", "length": 237, "uniprot_id": "ICLN_HUMAN", "protein_name": "Methylosome subunit pICln", "refseq_ac": "NP_001284", "refseq_name": "methylosome subunit pICln isoform a", "gene_name": "CLNS1A", "gene_names_uniprotkb": "CLNS1A; CLCI; ICLN", "gene_names_refseq": "CLCI; CLNS1A; CLNS1B; ICln", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs751924576", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751924576", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751924576", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751924576", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751924576", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751924576", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "NMAGVRTEDSIRDYEDGMEV", "down_seq": "TTPTVAGQFEDADVDH", "snv": [ { "evidence": [ { "id": "rs751924576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751924576" }, { "id": "rs751924576", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751924576" }, { "id": "rs751924576", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751924576" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DTT->NTT).", "chr_id": "11", "chr_pos": "77619681", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D221", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "223", "end_pos": "223" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P54105-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P54105-1.207.207", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P54105-1.210.210", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P54105-1.214.214", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P54105-1.223.223", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P54105-1.48.48", "start_pos": 48, "end_pos": 48, "uniprot_canonical_ac": "P54105-1", "length": 237, "uniprot_id": "ICLN_HUMAN", "protein_name": "Methylosome subunit pICln", "refseq_ac": "NP_001284", "refseq_name": "methylosome subunit pICln isoform a", "gene_name": "CLNS1A", "gene_names_uniprotkb": "CLNS1A; CLCI; ICLN", "gene_names_refseq": "CLCI; CLNS1A; CLNS1B; ICln", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P54105", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54105", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs779619789", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779619789", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779619789", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779619789", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779619789", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779619789", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs779619789", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs779619789", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "NGKGLGTGTLYIAESRLSWL", "down_seq": "GSGLGFSLEYPTISLHALSR", "snv": [ { "evidence": [ { "id": "P54105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54105" }, { "id": "rs779619789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779619789" }, { "id": "rs779619789", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779619789" }, { "id": "rs779619789", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779619789" }, { "id": "rs779619789", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs779619789" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "11", "chr_pos": "77629883", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D48", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "223", "end_pos": "223" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "P54105-1.67.67", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P54105-1.69.69", "start_pos": 69, "end_pos": 69, "uniprot_canonical_ac": "P54105-1", "length": 237, "uniprot_id": "ICLN_HUMAN", "protein_name": "Methylosome subunit pICln", "refseq_ac": "NP_001284", "refseq_name": "methylosome subunit pICln isoform a", "gene_name": "CLNS1A", "gene_names_uniprotkb": "CLNS1A; CLCI; ICLN", "gene_names_refseq": "CLCI; CLNS1A; CLNS1B; ICln", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1959056998", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1959056998", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1959056998", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1959056998#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GSGLGFSLEYPTISLHALSR", "down_seq": "RSDCLGEHLYVMVNAKFEEE", "snv": [ { "evidence": [ { "id": "rs1959056998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1959056998" }, { "id": "rs1959056998", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1959056998#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DRS->NRS).", "chr_id": "11", "chr_pos": "77629820", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D69", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "223", "end_pos": "223" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P54105-1.67.67", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P54105-1.102.102", "start_pos": 102, "end_pos": 102, "uniprot_canonical_ac": "P54105-1", "length": 237, "uniprot_id": "ICLN_HUMAN", "protein_name": "Methylosome subunit pICln", "refseq_ac": "NP_001284", "refseq_name": "methylosome subunit pICln isoform a", "gene_name": "CLNS1A", "gene_names_uniprotkb": "CLNS1A; CLCI; ICLN", "gene_names_refseq": "CLCI; CLNS1A; CLNS1B; ICln", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Large-scale proteomics analysis of the human kinome.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Oppermann FS, Gnad F, Olsen JV, Hornberger R, Greff Z, Keri G, Mann M, Daub H", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" } ] }, { "title": "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.", "journal": "Proteomics", "date": "2008", "authors": "Han G, Ye M, Zhou H, Jiang X, Feng S, Jiang X, Tian R, Wan D, Zou H, Gu J", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "18318008", "url": "https://glygen.org/publication/PubMed/18318008" } ] }, { "title": "Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line.", "journal": "Electrophoresis", "date": "2007", "authors": "Giorgianni F, Zhao Y, Desiderio DM, Beranova-Giorgianni S", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "17487921", "url": "https://glygen.org/publication/PubMed/17487921" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Molina H, Horn DM, Tang N, Mathivanan S, Pandey A", "evidence": [ { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "Hydrophilic interaction chromatography reduces the complexity of the phosphoproteome and improves global phosphopeptide isolation and detection.", "journal": "Molecular & cellular proteomics : MCP", "date": "2008", "authors": "McNulty DE, Annan RS", "evidence": [ { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphoproteomic analysis of distinct tumor cell lines in response to nocodazole treatment.", "journal": "Proteomics", "date": "2009", "authors": "Nagano K, Shinkawa T, Mutoh H, Kondoh O, Morimoto S, Inomata N, Ashihara M, Ishii N, Aoki Y, Haramura M", "evidence": [ { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ] }, { "title": "Quantitative analysis of phosphopeptides in search of the disease biomarker from the hepatocellular carcinoma specimen.", "journal": "Proteomics", "date": "2009", "authors": "Lee HJ, Na K, Kwon MS, Kim H, Kim KS, Paik YK", "evidence": [ { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "19562805", "url": "https://glygen.org/publication/PubMed/19562805" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Exploring the human leukocyte phosphoproteome using a microfluidic reversed-phase-TiO2-reversed-phase high-performance liquid chromatography phosphochip coupled to a quadrupole time-of-flight mass spectrometer.", "journal": "Analytical chemistry", "date": "2010", "authors": "Raijmakers R, Kraiczek K, de Jong AP, Mohammed S, Heck AJ", "evidence": [ { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Phosphoproteomic analysis of primary human multiple myeloma cells.", "journal": "Journal of proteomics", "date": "2010", "authors": "Ge F, Xiao CL, Yin XF, Lu CH, Zeng HL, He QY", "evidence": [ { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" } ] } ], "crossref": [ { "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18318008", "url": "https://glygen.org/publication/PubMed/18318008", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17487921", "url": "https://glygen.org/publication/PubMed/17487921", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19562805", "url": "https://glygen.org/publication/PubMed/19562805", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VNAKFEEESKEPVADEEEED", "down_seq": "DDDVEPITEFRFVPSDKSAL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "PubMed", "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" }, { "database": "PubMed", "id": "18318008", "url": "https://glygen.org/publication/PubMed/18318008" }, { "database": "PubMed", "id": "17487921", "url": "https://glygen.org/publication/PubMed/17487921" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19562805", "url": "https://glygen.org/publication/PubMed/19562805" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" } ], "site_lbl": "Ser102" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "223", "end_pos": "223" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 24 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P54105-1.144.144", "start_pos": 144, "end_pos": 144, "uniprot_canonical_ac": "P54105-1", "length": 237, "uniprot_id": "ICLN_HUMAN", "protein_name": "Methylosome subunit pICln", "refseq_ac": "NP_001284", "refseq_name": "methylosome subunit pICln isoform a", "gene_name": "CLNS1A", "gene_names_uniprotkb": "CLNS1A; CLCI; ICLN", "gene_names_refseq": "CLCI; CLNS1A; CLNS1B; ICln", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AMFTAMCECQALHPDPEDED", "down_seq": "DDYDGEEYDVEAHEQGQGDI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "site_lbl": "Ser144" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "223", "end_pos": "223" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P54105-1.207.207", "start_pos": 207, "end_pos": 207, "uniprot_canonical_ac": "P54105-1", "length": 237, "uniprot_id": "ICLN_HUMAN", "protein_name": "Methylosome subunit pICln", "refseq_ac": "NP_001284", "refseq_name": "methylosome subunit pICln isoform a", "gene_name": "CLNS1A", "gene_names_uniprotkb": "CLNS1A; CLCI; ICLN", "gene_names_refseq": "CLCI; CLNS1A; CLNS1B; ICln", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RLEGMLSQSVSSQYNMAGVR", "down_seq": "EDSIRDYEDGMEVDTTPTVA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Thr207" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "223", "end_pos": "223" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P54105-1.193.193", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P54105-1.195.195", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P54105-1.197.197", "categories": [ "glycosylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P54105-1.198.198", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P54105-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P54105-1.210.210", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P54105-1.214.214", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P54105-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P54105-1.223.223", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P54105-1.210.210", "start_pos": 210, "end_pos": 210, "uniprot_canonical_ac": "P54105-1", "length": 237, "uniprot_id": "ICLN_HUMAN", "protein_name": "Methylosome subunit pICln", "refseq_ac": "NP_001284", "refseq_name": "methylosome subunit pICln isoform a", "gene_name": "CLNS1A", "gene_names_uniprotkb": "CLNS1A; CLCI; ICLN", "gene_names_refseq": "CLCI; CLNS1A; CLNS1B; ICln", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GMLSQSVSSQYNMAGVRTED", "down_seq": "IRDYEDGMEVDTTPTVAGQF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser210" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "223", "end_pos": "223" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P54105-1.193.193", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P54105-1.195.195", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P54105-1.197.197", "categories": [ "glycosylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P54105-1.198.198", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P54105-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P54105-1.207.207", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P54105-1.214.214", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P54105-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P54105-1.223.223", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P54105-1.214.214", "start_pos": 214, "end_pos": 214, "uniprot_canonical_ac": "P54105-1", "length": 237, "uniprot_id": "ICLN_HUMAN", "protein_name": "Methylosome subunit pICln", "refseq_ac": "NP_001284", "refseq_name": "methylosome subunit pICln isoform a", "gene_name": "CLNS1A", "gene_names_uniprotkb": "CLNS1A; CLCI; ICLN", "gene_names_refseq": "CLCI; CLNS1A; CLNS1B; ICln", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] }, { "title": "A common phosphotyrosine signature for the Bcr-Abl kinase.", "journal": "Blood", "date": "2006", "authors": "Goss VL, Lee KA, Moritz A, Nardone J, Spek EJ, MacNeill J, Rush J, Comb MJ, Polakiewicz RD", "evidence": [ { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" } ] } ], "crossref": [ { "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "QSVSSQYNMAGVRTEDSIRD", "down_seq": "EDGMEVDTTPTVAGQFEDAD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "PubMed", "id": "16497976", "url": "https://glygen.org/publication/PubMed/16497976" } ], "site_lbl": "Tyr214" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "223", "end_pos": "223" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P54105-1.195.195", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P54105-1.197.197", "categories": [ "glycosylation_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P54105-1.198.198", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P54105-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P54105-1.207.207", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P54105-1.210.210", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P54105-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P54105-1.223.223", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P54105-1.223.223", "start_pos": 223, "end_pos": 223, "uniprot_canonical_ac": "P54105-1", "length": 237, "uniprot_id": "ICLN_HUMAN", "protein_name": "Methylosome subunit pICln", "refseq_ac": "NP_001284", "refseq_name": "methylosome subunit pICln isoform a", "gene_name": "CLNS1A", "gene_names_uniprotkb": "CLNS1A; CLCI; ICLN", "gene_names_refseq": "CLCI; CLNS1A; CLNS1B; ICln", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "AGVRTEDSIRDYEDGMEVDT", "down_seq": "PTVAGQFEDADVDH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P54105", "url": "https://www.uniprot.org/uniprotkb/P54105" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "P54105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54105" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr223" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "203", "end_pos": "203" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "223", "end_pos": "223" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P54105-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P54105-1.207.207", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P54105-1.210.210", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P54105-1.214.214", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P54105-1.221.221", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.335.335", "start_pos": 335, "end_pos": 335, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Comparative O-GlcNAc Proteomic Analysis Reveals a Role of O-GlcNAcylated SAM68 in Lung Cancer Aggressiveness.", "journal": "Cancers", "date": "2022", "authors": "Lin CH, Liao CC, Wang SY, Peng CY, Yeh YC, Chen MY, Chou TY", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60341", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341" } ], "reference": [ { "type": "PubMed", "id": "35008409", "url": "https://glygen.org/publication/PubMed/35008409" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60341", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60341", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60341", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60341", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60341", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341" }, { "database": "O-GlcNAc Atlas", "id": "O60341", "url": "https://oglcnac.org/atlas/detail/O60341" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Methylation-directed glycosylation of chromatin factors represses retrotransposon promoters.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2020", "authors": "Boulard M, Rucli S, Edwards JR, Bestor TH", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60341", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341" } ], "reference": [ { "type": "PubMed", "id": "32522876", "url": "https://glygen.org/publication/PubMed/32522876" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60341", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "crossref": [ { "id": "35008409", "url": "https://glygen.org/publication/PubMed/35008409", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60341", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32522876", "url": "https://glygen.org/publication/PubMed/32522876", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GRVATFRKGNYVADLGAMVV", "down_seq": "GLGGNPMAVVSKQVNMELAK", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr335", "evidence": [ { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "O60341", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "32522876", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32522876" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "O60341-1.319.319", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.35.35", "start_pos": 35, "end_pos": 35, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Comparative O-GlcNAc Proteomic Analysis Reveals a Role of O-GlcNAcylated SAM68 in Lung Cancer Aggressiveness.", "journal": "Cancers", "date": "2022", "authors": "Lin CH, Liao CC, Wang SY, Peng CY, Yeh YC, Chen MY, Chou TY", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60341", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341" } ], "reference": [ { "type": "PubMed", "id": "35008409", "url": "https://glygen.org/publication/PubMed/35008409" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60341", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60341", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60341", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60341", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60341", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341" }, { "database": "O-GlcNAc Atlas", "id": "O60341", "url": "https://oglcnac.org/atlas/detail/O60341" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Methylation-directed glycosylation of chromatin factors represses retrotransposon promoters.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2020", "authors": "Boulard M, Rucli S, Edwards JR, Bestor TH", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60341", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341" } ], "reference": [ { "type": "PubMed", "id": "32522876", "url": "https://glygen.org/publication/PubMed/32522876" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60341", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "crossref": [ { "id": "35008409", "url": "https://glygen.org/publication/PubMed/35008409", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60341", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32522876", "url": "https://glygen.org/publication/PubMed/32522876", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60341", "url": "https://oglcnac.org/atlas/detail/O60341", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1641550233", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1641550233", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1641550233", "url": "https://www.ensembl.org/id/rs1641550233", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AAAATGTEAGPGTAGGSENG", "down_seq": "EVAAQPAGLSGPAEVGPGAV", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser35", "evidence": [ { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "O60341", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60341" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "32522876", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32522876" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "O60341", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60341" } ] } ], "snv": [ { "evidence": [ { "id": "rs1641550233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1641550233" }, { "id": "rs1641550233", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1641550233" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->A).", "chr_id": "1", "chr_pos": "23019699", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S35", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.781.781", "start_pos": 781, "end_pos": 781, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs1569834631", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1569834631", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1569834631", "url": "https://www.ensembl.org/id/rs1569834631", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "YSYVAAGSSGNDYDLMAQPI", "down_seq": "PGPSIPGAPQPIPRLFFAGE", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr781", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1569834631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1569834631" }, { "id": "rs1569834631", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1569834631" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "1", "chr_pos": "23082335", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T781", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60341-1.761.761", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "O60341-1.773.773", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60341-1.841.841", "start_pos": 841, "end_pos": 841, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EAGRIADQFLGAMYTLPRQA", "down_seq": "PGVPAQQSPSM", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr841", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "O60341-1.849.849", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60341-1.851.851", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60341-1.88.88", "start_pos": 88, "end_pos": 88, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs752275854", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752275854", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752275854", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs752275854", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs752275854", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752275854", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752275854", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752275854#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs752275854", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752275854", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1008935183", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1008935183", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1008935183", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1008935183#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1008935183", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1008935183", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ASPPGGLAEPPGSAGPQAGP", "down_seq": "VVPGSATPMETGIAETPEGR", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr88", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs752275854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752275854" }, { "id": "rs752275854", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs752275854" }, { "id": "rs752275854", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752275854" }, { "id": "rs752275854", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752275854#frequency_tab" }, { "id": "rs752275854", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752275854" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "23019858", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T88", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1008935183", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1008935183" }, { "id": "rs1008935183", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1008935183#frequency_tab" }, { "id": "rs1008935183", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1008935183" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "23019859", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T88", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Thr88" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "O60341-1.80.80", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60341-1.104.104", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.432.436", "start_pos": 432, "end_pos": 436, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "MOF Acetylates the Histone Demethylase LSD1 to Suppress Epithelial-to-Mesenchymal Transition.", "journal": "Cell reports", "date": "2016-06-21", "authors": "Luo Huacheng, Shenoy Anitha K, Li Xuehui, Jin Yue, Jin Lihua, Cai Qingsong, Tang Ming, Liu Yang, Chen Hao, Reisman David, Wu Lizi, Seto Edward, Qiu Yi, Dou Yali, Casero Robert A, Lu Jianrong", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "reference": [ { "type": "PubMed", "id": "27292636", "url": "https://glygen.org/publication/PubMed/27292636" } ] } ], "crossref": [ { "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "27292636", "url": "https://glygen.org/publication/PubMed/27292636", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "KKIVK", "start_aa": "K", "up_seq": "LEVVIQLQEKHVKDEQIEHW", "down_seq": "TQEELKELLNKMVNLKEKIK", "mutagenesis": [ { "sequence_org": "KKIVK", "sequence_mut": "QQIVQ", "comment": "Mimics acetylation; preventing association with chromatin.", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "PubMed", "id": "27292636", "url": "https://glygen.org/publication/PubMed/27292636" } ] }, { "sequence_org": "KKIVK", "sequence_mut": "RRIVR", "comment": "Abolished acetylation by KAT8, promoting association with chromatin.", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "PubMed", "id": "27292636", "url": "https://glygen.org/publication/PubMed/27292636" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.503.503", "start_pos": 503, "end_pos": 503, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Destabilizing LSD1 by Jade-2 promotes neurogenesis: an antibraking system in neural development.", "journal": "Molecular cell", "date": "2014", "authors": "Han X, Gui B, Xiong C, Zhao L, Liang J, Sun L, Yang X, Yu W, Si W, Yan R, Yi X, Zhang D, Li W, Li L, Yang J, Wang Y, Sun YE, Zhang D, Meng A, Shang Y", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "reference": [ { "type": "PubMed", "id": "25018020", "url": "https://glygen.org/publication/PubMed/25018020" } ] } ], "crossref": [ { "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25018020", "url": "https://glygen.org/publication/PubMed/25018020", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KHRDLTALCKEYDELAETQG", "down_seq": "LEEKLQELEANPPSDVYLSS", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of polyubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "PubMed", "id": "25018020", "url": "https://glygen.org/publication/PubMed/25018020" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O60341-1.486.486", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.535.535", "start_pos": 535, "end_pos": 535, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crystal structure of human histone lysine-specific demethylase 1 (LSD1).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Chen Y, Yang Y, Wang F, Wan K, Yamane K, Zhang Y, Lei M", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "reference": [ { "type": "PubMed", "id": "16956976", "url": "https://glygen.org/publication/PubMed/16956976" } ] } ], "crossref": [ { "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16956976", "url": "https://glygen.org/publication/PubMed/16956976", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "PPSDVYLSSRDRQILDWHFA", "down_seq": "LEFANATPLSTLSLKHWDQD", "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Strongly reduces demethylase activity.", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "PubMed", "id": "16956976", "url": "https://glygen.org/publication/PubMed/16956976" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.564.564", "start_pos": 564, "end_pos": 564, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crystal structure of human histone lysine-specific demethylase 1 (LSD1).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Chen Y, Yang Y, Wang F, Wan K, Yamane K, Zhang Y, Lei M", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "reference": [ { "type": "PubMed", "id": "16956976", "url": "https://glygen.org/publication/PubMed/16956976" } ] } ], "crossref": [ { "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16956976", "url": "https://glygen.org/publication/PubMed/16956976", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "LSTLSLKHWDQDDDFEFTGS", "down_seq": "LTVRNGYSCVPVALAEGLDI", "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Strongly reduces demethylase activity.", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "PubMed", "id": "16956976", "url": "https://glygen.org/publication/PubMed/16956976" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.661.661", "start_pos": 661, "end_pos": 661, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An essential role for CoREST in nucleosomal histone 3 lysine 4 demethylation.", "journal": "Nature", "date": "2005", "authors": "Lee MG, Wynder C, Cooch N, Shiekhattar R", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "RefSeq", "id": "NP_001009999", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009999" } ], "reference": [ { "type": "PubMed", "id": "16079794", "url": "https://glygen.org/publication/PubMed/16079794" } ] } ], "crossref": [ { "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16079794", "url": "https://glygen.org/publication/PubMed/16079794", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "PPLPEWKTSAVQRMGFGNLN", "down_seq": "VVLCFDRVFWDPSVNLFGHV", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes histone demethylase activity.", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "PubMed", "id": "16079794", "url": "https://glygen.org/publication/PubMed/16079794" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.685.685", "start_pos": 685, "end_pos": 685, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "LSD1n is an H4K20 demethylase regulating memory formation via transcriptional elongation control.", "journal": "Nature neuroscience", "date": "2015-09", "authors": "Wang Jianxun, Telese Francesca, Tan Yuliang, Li Wenbo, Jin Chunyu, He Xin, Basnet Harihar, Ma Qi, Merkurjev Daria, Zhu Xiaoyan, Liu Zhijie, Zhang Jie, Ohgi Kenny, Taylor Havilah, White Ryan R, Tazearslan Cagdas, Suh Yousin, Macfarlan Todd S, Pfaff Samuel L, Rosenfeld Michael G", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "reference": [ { "type": "PubMed", "id": "26214369", "url": "https://glygen.org/publication/PubMed/26214369" } ] } ], "crossref": [ { "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "26214369", "url": "https://glygen.org/publication/PubMed/26214369", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "CFDRVFWDPSVNLFGHVGST", "down_seq": "ASRGELFLFWNLYKAPILLA", "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes histone H4K20 demethylase activity.", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "PubMed", "id": "26214369", "url": "https://glygen.org/publication/PubMed/26214369" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "O60341-1.683.683", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60341-1.687.687", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.761.761", "start_pos": 761, "end_pos": 761, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crystal structure of human histone lysine-specific demethylase 1 (LSD1).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Chen Y, Yang Y, Wang F, Wan K, Yamane K, Zhang Y, Lei M", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "reference": [ { "type": "PubMed", "id": "16956976", "url": "https://glygen.org/publication/PubMed/16956976" } ] } ], "crossref": [ { "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16956976", "url": "https://glygen.org/publication/PubMed/16956976", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "PQPKETVVSRWRADPWARGS", "down_seq": "SYVAAGSSGNDYDLMAQPIT", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Strongly reduces demethylase activity.", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "PubMed", "id": "16956976", "url": "https://glygen.org/publication/PubMed/16956976" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "O60341-1.773.773", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60341-1.781.781", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.242.242", "start_pos": 242, "end_pos": 242, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1211624248", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211624248", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1211624248", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1211624248#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LDNPKIQLTFEATLQQLEAP", "down_seq": "NSDTVLVHRVHSYLERHGLI", "snv": [ { "evidence": [ { "id": "rs1211624248", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211624248" }, { "id": "rs1211624248", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1211624248#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YNS->NNS).", "chr_id": "1", "chr_pos": "23053833", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y242", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "O60341-1.244.244", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60341-1.244.244", "start_pos": 244, "end_pos": 244, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1232495819", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232495819", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1232495819", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232495819", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NPKIQLTFEATLQQLEAPYN", "down_seq": "DTVLVHRVHSYLERHGLINF", "snv": [ { "evidence": [ { "id": "rs1232495819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232495819" }, { "id": "rs1232495819", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232495819" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SDT->NDT).", "chr_id": "1", "chr_pos": "23055069", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S244", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "O60341-1.242.242", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60341-1.285.285", "start_pos": 285, "end_pos": 285, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60341", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60341", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "GIYKRIKPLPTKKTGKVIII", "down_seq": "SGVSGLAAARQLQSFGMDVT", "snv": [ { "evidence": [ { "id": "O60341", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60341" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "12", "frequency": "0.3", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: patient count (12/4484).", "chr_id": "1", "chr_pos": "23055131", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G285", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60341-1.486.486", "start_pos": 486, "end_pos": 486, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1643313083", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1643313083", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1643313083", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1643313083#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1643313083", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1643313083", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SEVKPPRDITAEFLVKSKHR", "down_seq": "LTALCKEYDELAETQGKLEE", "snv": [ { "evidence": [ { "id": "rs1643313083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1643313083" }, { "id": "rs1643313083", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1643313083#frequency_tab" }, { "id": "rs1643313083", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1643313083" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "1", "chr_pos": "23071339", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D486", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "O60341-1.503.503", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60341-1.589.589", "start_pos": 589, "end_pos": 589, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2522780908", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2522780908", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "NGYSCVPVALAEGLDIKLNT", "down_seq": "VRQVRYTASGCEVIAVNTRS", "snv": [ { "evidence": [ { "id": "rs2522780908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2522780908" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTA->NTT).", "chr_id": "1", "chr_pos": "23077330", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A589", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "O60341-1.608.608", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60341-1.608.608", "start_pos": 608, "end_pos": 608, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1368056777", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1368056777", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1368056777", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1368056777#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1368056777", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1368056777", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TAVRQVRYTASGCEVIAVNT", "down_seq": "STSQTFIYKCDAVLCTLPLG", "snv": [ { "evidence": [ { "id": "rs1368056777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1368056777" }, { "id": "rs1368056777", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1368056777#frequency_tab" }, { "id": "rs1368056777", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1368056777" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTR->NTC).", "chr_id": "1", "chr_pos": "23079016", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R608", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60341-1.589.589", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60341-1.611.611", "categories": [ "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60341-1.611.611", "start_pos": 611, "end_pos": 611, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "rs1230258982", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230258982", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1230258982", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1230258982#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1230258982", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1230258982", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RQVRYTASGCEVIAVNTRST", "down_seq": "QTFIYKCDAVLCTLPLGVLK", "snv": [ { "evidence": [ { "id": "rs1230258982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230258982" }, { "id": "rs1230258982", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1230258982#frequency_tab" }, { "id": "rs1230258982", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1230258982" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SQT->NQT).", "chr_id": "1", "chr_pos": "23079026", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S611", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "site_lbl": "Ser611" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "O60341-1.608.608", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.773.773", "start_pos": 773, "end_pos": 773, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60341", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60341", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "ADPWARGSYSYVAAGSSGND", "down_seq": "DLMAQPITPGPSIPGAPQPI", "snv": [ { "evidence": [ { "id": "O60341", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60341" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NDY->NDC).", "chr_id": "1", "chr_pos": "23082311", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y773", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "O60341-1.761.761", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "O60341-1.781.781", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60341-1.104.104", "start_pos": 104, "end_pos": 104, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QAGPTVVPGSATPMETGIAE", "down_seq": "PEGRRTSRRKRAKVEYREMD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "site_lbl": "Thr104" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "O60341-1.88.88", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60341-1.110.110", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60341-1.111.111", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.110.110", "start_pos": 110, "end_pos": 110, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "LSD1 engages a corepressor complex for the activation of the estrogen receptor alpha by estrogen and cAMP.", "journal": "Nucleic acids research", "date": "2016", "authors": "Bennesch MA, Segala G, Wider D, Picard D", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "27325688", "url": "https://glygen.org/publication/PubMed/27325688" } ] } ], "crossref": [ { "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "27325688", "url": "https://glygen.org/publication/PubMed/27325688", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VPGSATPMETGIAETPEGRR", "down_seq": "SRRKRAKVEYREMDESLANL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" }, { "database": "PubMed", "id": "27325688", "url": "https://glygen.org/publication/PubMed/27325688" } ], "site_lbl": "Thr110" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "O60341-1.104.104", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60341-1.111.111", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60341-1.126.126", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.111.111", "start_pos": 111, "end_pos": 111, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "LSD1 engages a corepressor complex for the activation of the estrogen receptor alpha by estrogen and cAMP.", "journal": "Nucleic acids research", "date": "2016", "authors": "Bennesch MA, Segala G, Wider D, Picard D", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "27325688", "url": "https://glygen.org/publication/PubMed/27325688" } ] }, { "title": "LSD1 activation promotes inducible EMT programs and modulates the tumour microenvironment in breast cancer.", "journal": "Scientific reports", "date": "2018", "authors": "Boulding T, McCuaig RD, Tan A, Hardy K, Wu F, Dunn J, Kalimutho M, Sutton CR, Forwood JK, Bert AG, Goodall GJ, Malik L, Yip D, Dahlstrom JE, Zafar A, Khanna KK, Rao S", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "29311580", "url": "https://glygen.org/publication/PubMed/29311580" } ] }, { "title": "Targeting Nuclear LSD1 to Reprogram Cancer Cells and Reinvigorate Exhausted T Cells via a Novel LSD1-EOMES Switch.", "journal": "Frontiers in immunology", "date": "2020", "authors": "Tu Wen Juan, McCuaig Robert D, Tan Abel H Y, Hardy Kristine, Seddiki Nabila, Ali Sayed, Dahlstrom Jane E, Bean Elaine G, Dunn Jenny, Forwood Jade, Tsimbalyuk Sofia, Smith Kate, Yip Desmond, Malik Laeeq, Prasanna Thiru, Milburn Peter, Rao Sudha", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "32612611", "url": "https://glygen.org/publication/PubMed/32612611" } ] } ], "crossref": [ { "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "27325688", "url": "https://glygen.org/publication/PubMed/27325688", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29311580", "url": "https://glygen.org/publication/PubMed/29311580", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32612611", "url": "https://glygen.org/publication/PubMed/32612611", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PGSATPMETGIAETPEGRRT", "down_seq": "RRKRAKVEYREMDESLANLS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" }, { "database": "PubMed", "id": "27325688", "url": "https://glygen.org/publication/PubMed/27325688" }, { "database": "PubMed", "id": "29311580", "url": "https://glygen.org/publication/PubMed/29311580" }, { "database": "PubMed", "id": "32612611", "url": "https://glygen.org/publication/PubMed/32612611" } ], "site_lbl": "Ser111" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "O60341-1.104.104", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60341-1.110.110", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60341-1.126.126", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60341-1.131.131", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.126.126", "start_pos": 126, "end_pos": 126, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Phosphoproteomic analysis of distinct tumor cell lines in response to nocodazole treatment.", "journal": "Proteomics", "date": "2009", "authors": "Nagano K, Shinkawa T, Mutoh H, Kondoh O, Morimoto S, Inomata N, Ashihara M, Ishii N, Aoki Y, Haramura M", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ] }, { "title": "Phosphorylation of LSD1 by PLK1 promotes its chromatin release during mitosis.", "journal": "Cell & bioscience", "date": "2017", "authors": "Peng B, Shi R, Jiang W, Ding YH, Dong MQ, Zhu WG, Xu X", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "28344766", "url": "https://glygen.org/publication/PubMed/28344766" } ] } ], "crossref": [ { "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28344766", "url": "https://glygen.org/publication/PubMed/28344766", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EGRRTSRRKRAKVEYREMDE", "down_seq": "LANLSEDEYYSEEERNAKAE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "28344766", "url": "https://glygen.org/publication/PubMed/28344766" } ], "site_lbl": "Ser126" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "O60341-1.110.110", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60341-1.111.111", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60341-1.131.131", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "O60341-1.135.135", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "O60341-1.136.136", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60341-1.137.137", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.131.131", "start_pos": 131, "end_pos": 131, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Large-scale proteomics analysis of the human kinome.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Oppermann FS, Gnad F, Olsen JV, Hornberger R, Greff Z, Keri G, Mann M, Daub H", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphoproteomic analysis of distinct tumor cell lines in response to nocodazole treatment.", "journal": "Proteomics", "date": "2009", "authors": "Nagano K, Shinkawa T, Mutoh H, Kondoh O, Morimoto S, Inomata N, Ashihara M, Ishii N, Aoki Y, Haramura M", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Modulation of LSD1 phosphorylation by CK2/WIP1 regulates RNF168-dependent 53BP1 recruitment in response to DNA damage.", "journal": "Nucleic acids research", "date": "2015", "authors": "Peng B, Wang J, Hu Y, Zhao H, Hou W, Zhao H, Wang H, Liao J, Xu X", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "25999347", "url": "https://glygen.org/publication/PubMed/25999347" } ] }, { "title": "Phosphorylation of LSD1 by PLK1 promotes its chromatin release during mitosis.", "journal": "Cell & bioscience", "date": "2017", "authors": "Peng B, Shi R, Jiang W, Ding YH, Dong MQ, Zhu WG, Xu X", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "28344766", "url": "https://glygen.org/publication/PubMed/28344766" } ] }, { "title": "A Ras-LSD1 axis activates PI3K signaling through PIK3IP1 suppression.", "journal": "Oncogenesis", "date": "2020-01-02", "authors": "Lee Kyunghee, Kitagawa Mayumi, Liao Pei Ju, Virshup David M, Lee Sang Hyun", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "31900384", "url": "https://glygen.org/publication/PubMed/31900384" } ] } ], "crossref": [ { "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25999347", "url": "https://glygen.org/publication/PubMed/25999347", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28344766", "url": "https://glygen.org/publication/PubMed/28344766", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31900384", "url": "https://glygen.org/publication/PubMed/31900384", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SRRKRAKVEYREMDESLANL", "down_seq": "EDEYYSEEERNAKAEKEKKL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "25999347", "url": "https://glygen.org/publication/PubMed/25999347" }, { "database": "PubMed", "id": "28344766", "url": "https://glygen.org/publication/PubMed/28344766" }, { "database": "PubMed", "id": "31900384", "url": "https://glygen.org/publication/PubMed/31900384" } ], "site_lbl": "Ser131" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60341-1.111.111", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60341-1.126.126", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60341-1.135.135", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60341-1.136.136", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "O60341-1.137.137", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 18 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.135.135", "start_pos": 135, "end_pos": 135, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] } ], "crossref": [ { "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "RAKVEYREMDESLANLSEDE", "down_seq": "YSEEERNAKAEKEKKLPPPP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Tyr135" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "O60341-1.126.126", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60341-1.131.131", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60341-1.136.136", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60341-1.137.137", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.136.136", "start_pos": 136, "end_pos": 136, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] } ], "crossref": [ { "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "AKVEYREMDESLANLSEDEY", "down_seq": "SEEERNAKAEKEKKLPPPPP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Tyr136" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "O60341-1.126.126", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60341-1.131.131", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60341-1.135.135", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60341-1.137.137", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.137.137", "start_pos": 137, "end_pos": 137, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphoproteomic analysis of distinct tumor cell lines in response to nocodazole treatment.", "journal": "Proteomics", "date": "2009", "authors": "Nagano K, Shinkawa T, Mutoh H, Kondoh O, Morimoto S, Inomata N, Ashihara M, Ishii N, Aoki Y, Haramura M", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Modulation of LSD1 phosphorylation by CK2/WIP1 regulates RNF168-dependent 53BP1 recruitment in response to DNA damage.", "journal": "Nucleic acids research", "date": "2015", "authors": "Peng B, Wang J, Hu Y, Zhao H, Hou W, Zhao H, Wang H, Liao J, Xu X", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "25999347", "url": "https://glygen.org/publication/PubMed/25999347" } ] } ], "crossref": [ { "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25999347", "url": "https://glygen.org/publication/PubMed/25999347", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KVEYREMDESLANLSEDEYY", "down_seq": "EEERNAKAEKEKKLPPPPPQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "25999347", "url": "https://glygen.org/publication/PubMed/25999347" } ], "site_lbl": "Ser137" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "O60341-1.126.126", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "O60341-1.131.131", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60341-1.135.135", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60341-1.136.136", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 13 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.166.166", "start_pos": 166, "end_pos": 166, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Modulation of LSD1 phosphorylation by CK2/WIP1 regulates RNF168-dependent 53BP1 recruitment in response to DNA damage.", "journal": "Nucleic acids research", "date": "2015", "authors": "Peng B, Wang J, Hu Y, Zhao H, Hou W, Zhao H, Wang H, Liao J, Xu X", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "25999347", "url": "https://glygen.org/publication/PubMed/25999347" } ] } ], "crossref": [ { "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25999347", "url": "https://glygen.org/publication/PubMed/25999347", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EKEKKLPPPPPQAPPEEENE", "down_seq": "EPEEPSGVEGAAFQSRLPHD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "25999347", "url": "https://glygen.org/publication/PubMed/25999347" } ], "site_lbl": "Ser166" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.319.319", "start_pos": 319, "end_pos": 319, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deciphering the landscape of phosphorylated HLA-II ligands.", "journal": "iScience", "date": "2022-05-20", "authors": "Solleder Marthe, Racle Julien, Guillaume Philippe, Coukos George, Bassani-Sternberg Michal, Gfeller David", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ] } ], "crossref": [ { "id": "O60341", "url": "https://www.iedb.org/epitope/O60341", "database": "IEDB", "categories": [ "Other" ] }, { "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SFGMDVTLLEARDRVGGRVA", "down_seq": "FRKGNYVADLGAMVVTGLGG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "IEDB", "id": "O60341", "url": "https://www.iedb.org/epitope/O60341" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Thr319" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "O60341-1.335.335", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.59.59", "start_pos": 59, "end_pos": 59, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "A novel landscape of nuclear human CDK2 substrates revealed by in situ phosphorylation.", "journal": "Science advances", "date": "2020-04", "authors": "Chi Yong, Carter John H, Swanger Jherek, Mazin Alexander V, Moritz Robert L, Clurman Bruce E", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "32494624", "url": "https://glygen.org/publication/PubMed/32494624" } ] } ], "crossref": [ { "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "32494624", "url": "https://glygen.org/publication/PubMed/32494624", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "AQPAGLSGPAEVGPGAVGER", "down_seq": "PRKKEPPRASPPGGLAEPPG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" }, { "database": "PubMed", "id": "32494624", "url": "https://glygen.org/publication/PubMed/32494624" } ], "site_lbl": "Thr59" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.683.683", "start_pos": 683, "end_pos": 683, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Nuclear GSK3beta promotes tumorigenesis by phosphorylating KDM1A and inducing its deubiquitylation by USP22.", "journal": "Nature cell biology", "date": "2016", "authors": "Zhou A, Lin K, Zhang S, Chen Y, Zhang N, Xue J, Wang Z, Aldape KD, Xie K, Woodgett JR, Huang S", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "27501329", "url": "https://glygen.org/publication/PubMed/27501329" } ] } ], "crossref": [ { "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "27501329", "url": "https://glygen.org/publication/PubMed/27501329", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VLCFDRVFWDPSVNLFGHVG", "down_seq": "TTASRGELFLFWNLYKAPIL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P49841-1", "kinase_gene_name": "GSK3B", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" }, { "database": "PubMed", "id": "27501329", "url": "https://glygen.org/publication/PubMed/27501329" } ], "site_lbl": "Ser683" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "O60341-1.685.685", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60341-1.687.687", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.687.687", "start_pos": 687, "end_pos": 687, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Nuclear GSK3beta promotes tumorigenesis by phosphorylating KDM1A and inducing its deubiquitylation by USP22.", "journal": "Nature cell biology", "date": "2016", "authors": "Zhou A, Lin K, Zhang S, Chen Y, Zhang N, Xue J, Wang Z, Aldape KD, Xie K, Woodgett JR, Huang S", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" } ], "reference": [ { "type": "PubMed", "id": "27501329", "url": "https://glygen.org/publication/PubMed/27501329" } ] } ], "crossref": [ { "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "27501329", "url": "https://glygen.org/publication/PubMed/27501329", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DRVFWDPSVNLFGHVGSTTA", "down_seq": "RGELFLFWNLYKAPILLALV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" }, { "database": "PubMed", "id": "27501329", "url": "https://glygen.org/publication/PubMed/27501329" } ], "site_lbl": "Ser687" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "O60341-1.683.683", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60341-1.685.685", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.80.80", "start_pos": 80, "end_pos": 80, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PRKKEPPRASPPGGLAEPPG", "down_seq": "AGPQAGPTVVPGSATPMETG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser80" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "O60341-1.88.88", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.849.849", "start_pos": 849, "end_pos": 849, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] } ], "crossref": [ { "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FLGAMYTLPRQATPGVPAQQ", "down_seq": "PSM", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser849" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "O60341-1.841.841", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60341-1.851.851", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60341-1.851.851", "start_pos": 851, "end_pos": 851, "uniprot_canonical_ac": "O60341-1", "length": 852, "uniprot_id": "KDM1A_HUMAN", "protein_name": "Lysine-specific histone demethylase 1A", "refseq_ac": "NP_001009999", "refseq_name": "lysine-specific histone demethylase 1A isoform a", "gene_name": "KDM1A", "gene_names_uniprotkb": "KDM1A; AOF2; BHC110; KDM1; KIAA0601; LSD1", "gene_names_refseq": "AIMAH3; AOF2; BHC110; CPRF; KDM1A; KDM1; LSD1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O60341", "url": "https://www.uniprot.org/uniprotkb/O60341" }, { "database": "iPTMnet", "id": "O60341-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GAMYTLPRQATPGVPAQQSP", "down_seq": "", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60341", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60341" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser851" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "335", "end_pos": "335" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "841", "end_pos": "841" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "432", "end_pos": "436" }, { "start_pos": "503", "end_pos": "503" }, { "start_pos": "535", "end_pos": "535" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "761", "end_pos": "761" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "608", "end_pos": "608" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "88", "end_pos": "88" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "611", "end_pos": "611" }, { "start_pos": "683", "end_pos": "683" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "O60341-1.841.841", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60341-1.849.849", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P20936-1.451.451", "start_pos": 451, "end_pos": 451, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Integrated glycoproteomic characterization of clear cell renal cell carcinoma.", "journal": "Cell reports", "date": "2023-05-30", "authors": "Lih T Mamie, Cho Kyung-Cho, Schnaubelt Michael, Hu Yingwei, Zhang Hui", "evidence": [ { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "reference": [ { "type": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" } ] } ], "crossref": [ { "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471", "database": "PDC", "categories": [ "Other" ] }, { "id": "rs2112456504", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2112456504", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2112456504", "url": "https://www.ensembl.org/id/rs2112456504", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs529871259", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529871259", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs529871259", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs529871259", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs529871259", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529871259", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs529871259", "url": "https://www.ncbi.nlm.nih.gov/snp/rs529871259#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs529871259", "url": "http://gnomad.broadinstitute.org/awesome?query=rs529871259", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2112456482", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2112456482", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2112456482", "url": "https://www.ensembl.org/id/rs2112456482", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "IVEGYYLKEPVPMQDQEQVL", "down_seq": "DTVDGKEIYNTIRRKTKDAF", "glycosylation": [ { "glytoucan_ac": "G20528HD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EPVPMQDQEQVLnDTVDGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn451", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] }, { "glytoucan_ac": "G41071NU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EPVPMQDQEQVLnDTVDGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn451", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ] } ], "snv": [ { "evidence": [ { "id": "rs2112456504", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2112456504" }, { "id": "rs2112456504", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2112456504" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDT->KDT).", "chr_id": "5", "chr_pos": "87362571", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N451", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs529871259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529871259" }, { "id": "rs529871259", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs529871259" }, { "id": "rs529871259", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529871259" }, { "id": "rs529871259", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs529871259#frequency_tab" }, { "id": "rs529871259", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs529871259" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDT->SDT).", "chr_id": "5", "chr_pos": "87362570", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "N451", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2112456482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2112456482" }, { "id": "rs2112456482", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2112456482" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDT->YDT).", "chr_id": "5", "chr_pos": "87362569", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N451", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P20936-1.453.453", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P20936-1.460.460", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P20936-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P20936-1.464.464", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P20936-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "P20936", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P20936" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] } ], "crossref": [ { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P20936", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P20936", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "P20936", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P20936" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P20936-1.1010.1010", "start_pos": 1010, "end_pos": 1010, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DLSRDLAALHEICVAHSDEL", "down_seq": "TLSNERGAQQHVLKKLLAIT", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "12", "frequency": "0.7", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 2 filters: patient count (12/1704); num. of cancers (3).", "chr_id": "5", "chr_pos": "87389495", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1010", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "87389496", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1010", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P20936-1.990.990", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P20936-1.1016.1016", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.429.429", "start_pos": 429, "end_pos": 429, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "FMMGGRYYNSIGDIIDHYRK", "down_seq": "QIVEGYYLKEPVPMQDQEQV", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "21", "frequency": "1.2", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 2 filters: patient freq. (1.2%); patient count (21/1704).", "chr_id": "5", "chr_pos": "87353188", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E429", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "P20936-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P20936-1.427.427", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.1016.1016", "start_pos": 1016, "end_pos": 1016, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1762319609", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1762319609", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AALHEICVAHSDELRTLSNE", "down_seq": "GAQQHVLKKLLAITELLQQK", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" }, { "id": "rs1762319609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1762319609" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NER->NEC).", "chr_id": "5", "chr_pos": "87389513", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1016", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "87389514", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1016", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "P20936-1.1010.1010", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.122.122", "start_pos": 122, "end_pos": 122, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VAGAAVAGPSGDMALTKLPT", "down_seq": "LLAETLGPGGGFPPLPPPPY", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1906", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "5", "chr_pos": "87268816", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S122", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.194.194", "start_pos": 194, "end_pos": 194, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TAPPTNQWYHGKLDRTIAEE", "down_seq": "LRQAGKSGSYLIRESDRRPG", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "87331388", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R194", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "87331389", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R194", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.218.218", "start_pos": 218, "end_pos": 218, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "AGKSGSYLIRESDRRPGSFV", "down_seq": "SFLSQMNVVNHFRIIAMCGD", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "87331460", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L218", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.245.245", "start_pos": 245, "end_pos": 245, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NVVNHFRIIAMCGDYYIGGR", "down_seq": "FSSLSDLIGYYSHVSCLLKG", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "87332547", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R245", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.283.283", "start_pos": 283, "end_pos": 283, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LKGEKLLYPVAPPEPVEDRR", "down_seq": "VRAILPYTKVPDTDEISFLK", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "5", "chr_pos": "87333286", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R283", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P20936-1.285.285", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.285.285", "start_pos": 285, "end_pos": 285, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GEKLLYPVAPPEPVEDRRRV", "down_seq": "AILPYTKVPDTDEISFLKGD", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "4", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "5", "chr_pos": "87333291", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R285", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P20936-1.283.283", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.312.312", "start_pos": 312, "end_pos": 312, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "KVPDTDEISFLKGDMFIVHN", "down_seq": "LEDGWMWVTNLRTDEQGLIV", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "87338008", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E312", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "P20936-1.324.324", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.324.324", "start_pos": 324, "end_pos": 324, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GDMFIVHNELEDGWMWVTNL", "down_seq": "TDEQGLIVEDLVEEVGREED", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLR->NLS).", "chr_id": "5", "chr_pos": "87338046", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R324", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P20936-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P20936-1.341.341", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.341.341", "start_pos": 341, "end_pos": 341, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TNLRTDEQGLIVEDLVEEVG", "down_seq": "EEDPHEGKIWFHGKISKQEA", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "87341294", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R341", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P20936-1.324.324", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.375.375", "start_pos": 375, "end_pos": 375, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "KISKQEAYNLLMTVGQVCSF", "down_seq": "VRPSDNTPGDYSLYFRTNEN", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "5", "chr_pos": "87349234", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L375", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "P20936-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P20936-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P20936-1.391.391", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.383.383", "start_pos": 383, "end_pos": 383, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "NLLMTVGQVCSFLVRPSDNT", "down_seq": "GDYSLYFRTNENIQRFKICP", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NTP->NTT).", "chr_id": "5", "chr_pos": "87349258", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P383", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "P20936-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P20936-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P20936-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P20936-1.398.398", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.385.385", "start_pos": 385, "end_pos": 385, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LMTVGQVCSFLVRPSDNTPG", "down_seq": "YSLYFRTNENIQRFKICPTP", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DYS->NYS).", "chr_id": "5", "chr_pos": "87349264", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D385", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "P20936-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P20936-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P20936-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P20936-1.398.398", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.391.391", "start_pos": 391, "end_pos": 391, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VCSFLVRPSDNTPGDYSLYF", "down_seq": "TNENIQRFKICPTPNNQFMM", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "5", "chr_pos": "87349282", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R391", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P20936-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P20936-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P20936-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P20936-1.398.398", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.398.398", "start_pos": 398, "end_pos": 398, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PSDNTPGDYSLYFRTNENIQ", "down_seq": "FKICPTPNNQFMMGGRYYNS", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "5", "chr_pos": "87349303", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R398", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P20936-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P20936-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P20936-1.391.391", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.419.419", "start_pos": 419, "end_pos": 419, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs201287544", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201287544", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs201287544", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201287544", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs201287544", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201287544", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs201287544", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201287544#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs201287544", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201287544", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "FKICPTPNNQFMMGGRYYNS", "down_seq": "GDIIDHYRKEQIVEGYYLKE", "snv": [ { "evidence": [ { "id": "rs201287544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201287544" }, { "id": "rs201287544", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201287544" }, { "id": "rs201287544", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201287544" }, { "id": "rs201287544", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201287544#frequency_tab" }, { "id": "rs201287544", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201287544" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSI->NST).", "chr_id": "5", "chr_pos": "87353159", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "I419", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "P20936-1.427.427", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P20936-1.429.429", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.427.427", "start_pos": 427, "end_pos": 427, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NQFMMGGRYYNSIGDIIDHY", "down_seq": "KEQIVEGYYLKEPVPMQDQE", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "87353182", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R427", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "P20936-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P20936-1.429.429", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.453.453", "start_pos": 453, "end_pos": 453, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1760192378", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1760192378", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1760192378", "url": "https://www.ensembl.org/id/rs1760192378", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1011383896", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1011383896", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1011383896", "url": "https://www.ensembl.org/id/rs1011383896", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1060503439", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1060503439", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EGYYLKEPVPMQDQEQVLND", "down_seq": "VDGKEIYNTIRRKTKDAFYK", "snv": [ { "evidence": [ { "id": "rs1760192378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1760192378" }, { "id": "rs1760192378", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1760192378" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDT->NDA).", "chr_id": "5", "chr_pos": "87362575", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T453", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1011383896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1011383896" }, { "id": "rs1011383896", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1011383896" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDT->NDI).", "chr_id": "5", "chr_pos": "87362576", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T453", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1011383896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1011383896" }, { "id": "rs1011383896", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1011383896" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDT->NDK).", "chr_id": "5", "chr_pos": "87362576", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T453", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1011383896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1011383896" }, { "id": "rs1011383896", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1011383896" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDT->NDR).", "chr_id": "5", "chr_pos": "87362576", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T453", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1060503439", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1060503439" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDT->NDX).", "chr_id": "5", "chr_pos": "87362574CA", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T453", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P20936-1.451.451", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P20936-1.460.460", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P20936-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P20936-1.464.464", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.460.460", "start_pos": 460, "end_pos": 460, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "The epidermal growth factor receptor phosphorylates GTPase-activating protein (GAP) at Tyr-460, adjacent to the GAP SH2 domains.", "journal": "Molecular and cellular biology", "date": "1991", "authors": "Liu XQ, Pawson T", "evidence": [ { "database": "iPTMnet", "id": "P20936-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20936-1" } ], "reference": [ { "type": "PubMed", "id": "1850098", "url": "https://glygen.org/publication/PubMed/1850098" } ] }, { "title": "Characterization of the C-terminal domain of ras-GTPase-activating protein (ras-GAP) as substrate for epidermal growth factor receptor and p60c-src kinase.", "journal": "Biochemistry and molecular biology international", "date": "1996", "authors": "Borowski P, Kornetzky L, Heiland M, Roloff S, Weber W, Laufs R", "evidence": [ { "database": "iPTMnet", "id": "P20936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20936" } ], "reference": [ { "type": "PubMed", "id": "8828816", "url": "https://glygen.org/publication/PubMed/8828816" } ] } ], "crossref": [ { "id": "rs2112456723", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2112456723", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2112456723", "url": "https://www.ensembl.org/id/rs2112456723", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "P20936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20936", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "1850098", "url": "https://glygen.org/publication/PubMed/1850098", "database": "PubMed", "categories": [ "Other" ] }, { "id": "8828816", "url": "https://glygen.org/publication/PubMed/8828816", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "PVPMQDQEQVLNDTVDGKEI", "down_seq": "NTIRRKTKDAFYKNIVKKGY", "snv": [ { "evidence": [ { "id": "rs2112456723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2112456723" }, { "id": "rs2112456723", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2112456723" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YNT->NNT).", "chr_id": "5", "chr_pos": "87362596", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y460", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P00533-1", "kinase_gene_name": "EGFR", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P20936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20936" }, { "database": "PubMed", "id": "1850098", "url": "https://glygen.org/publication/PubMed/1850098" } ], "site_lbl": "Tyr460" }, { "kinase_uniprot_canonical_ac": "P06239-1", "kinase_gene_name": "LCK", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P20936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20936" }, { "database": "PubMed", "id": "1850098", "url": "https://glygen.org/publication/PubMed/1850098" } ], "site_lbl": "Tyr460" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P20936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20936" }, { "database": "PubMed", "id": "8828816", "url": "https://glygen.org/publication/PubMed/8828816" } ], "site_lbl": "Tyr460" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "P20936-1.451.451", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P20936-1.453.453", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P20936-1.463.463", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P20936-1.464.464", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P20936-1.463.463", "start_pos": 463, "end_pos": 463, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2112456831", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2112456831", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2112456831", "url": "https://www.ensembl.org/id/rs2112456831", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "MQDQEQVLNDTVDGKEIYNT", "down_seq": "RRKTKDAFYKNIVKKGYLLK", "snv": [ { "evidence": [ { "id": "rs2112456831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2112456831" }, { "id": "rs2112456831", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2112456831" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTI->NTS).", "chr_id": "5", "chr_pos": "87362606", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I463", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P20936-1.451.451", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P20936-1.453.453", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P20936-1.460.460", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P20936-1.464.464", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.464.464", "start_pos": 464, "end_pos": 464, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QDQEQVLNDTVDGKEIYNTI", "down_seq": "RKTKDAFYKNIVKKGYLLKK", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "87362608", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R464", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P20936-1.451.451", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P20936-1.453.453", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P20936-1.460.460", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P20936-1.463.463", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.493.493", "start_pos": 493, "end_pos": 493, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "KNIVKKGYLLKKGKGKRWKN", "down_seq": "YFILEGSDAQLIYFESEKRA", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "87363372", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L493", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "P20936-1.512.512", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.512.512", "start_pos": 512, "end_pos": 512, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NLYFILEGSDAQLIYFESEK", "down_seq": "ATKPKGLIDLSVCSVYVVHD", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "5", "chr_pos": "87363428", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R512", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P20936-1.493.493", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.541.541", "start_pos": 541, "end_pos": 541, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "DLSVCSVYVVHDSLFGRPNC", "down_seq": "QIVVQHFSEEHYIFYFAGET", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NCF->NCC).", "chr_id": "5", "chr_pos": "87369824", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F541", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.580.580", "start_pos": 580, "end_pos": 580, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ETPEQAEDWMKGLQAFCNLR", "down_seq": "SSPGTSNKRLRQVSSLVLHI", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "5", "chr_pos": "87372159", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K580", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "P20936-1.589.589", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P20936-1.591.591", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.589.589", "start_pos": 589, "end_pos": 589, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs746430799", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746430799", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs746430799", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746430799", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs746430799", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs746430799", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MKGLQAFCNLRKSSPGTSNK", "down_seq": "LRQVSSLVLHIEEAHKLPVK", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" }, { "id": "rs746430799", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746430799" }, { "id": "rs746430799", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746430799" }, { "id": "rs746430799", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs746430799" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NKR->NKC).", "chr_id": "5", "chr_pos": "87372184", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R589", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "3", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "5", "chr_pos": "87372185", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R589", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "P20936-1.580.580", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P20936-1.591.591", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.591.591", "start_pos": 591, "end_pos": 591, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GLQAFCNLRKSSPGTSNKRL", "down_seq": "QVSSLVLHIEEAHKLPVKHF", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "5", "chr_pos": "87372190", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R591", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "87372191", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R591", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P20936-1.580.580", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P20936-1.589.589", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.663.663", "start_pos": 663, "end_pos": 663, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "VFDDLPPDINRFEITLSNKT", "down_seq": "KSKDPDILFMRCQLSRLQKG", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KKS->NKS).", "chr_id": "5", "chr_pos": "87374894", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K663", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.700.700", "start_pos": 700, "end_pos": 700, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LQKGHATDEWFLLSSHIPLK", "down_seq": "IEPGSLRVRARYSMEKIMPE", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "87376479", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G700", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "P20936-1.707.707", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P20936-1.709.709", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P20936-1.711.711", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.707.707", "start_pos": 707, "end_pos": 707, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DEWFLLSSHIPLKGIEPGSL", "down_seq": "VRARYSMEKIMPEEEYSEFK", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "87376500", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R707", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "87376501", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R707", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "P20936-1.700.700", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P20936-1.709.709", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P20936-1.711.711", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P20936-1.721.721", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.709.709", "start_pos": 709, "end_pos": 709, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "WFLLSSHIPLKGIEPGSLRV", "down_seq": "ARYSMEKIMPEEEYSEFKEL", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "5", "chr_pos": "87376506", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R709", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "P20936-1.700.700", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P20936-1.707.707", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P20936-1.711.711", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P20936-1.721.721", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.711.711", "start_pos": 711, "end_pos": 711, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LLSSHIPLKGIEPGSLRVRA", "down_seq": "YSMEKIMPEEEYSEFKELIL", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "5", "chr_pos": "87376512", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R711", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P20936-1.700.700", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P20936-1.707.707", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P20936-1.709.709", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P20936-1.721.721", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.721.721", "start_pos": 721, "end_pos": 721, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "IEPGSLRVRARYSMEKIMPE", "down_seq": "EYSEFKELILQKELHVVYAL", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "87376542", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E721", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P20936-1.707.707", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P20936-1.709.709", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P20936-1.711.711", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.749.749", "start_pos": 749, "end_pos": 749, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LILQKELHVVYALSHVCGQD", "down_seq": "TLLASILLRIFLHEKLESLL", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "5", "chr_pos": "87376941", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R749", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "5", "chr_pos": "87376942", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R749", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "P20936-1.763.763", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.763.763", "start_pos": 763, "end_pos": 763, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "HVCGQDRTLLASILLRIFLH", "down_seq": "KLESLLLCTLNDREISMEDE", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "5", "chr_pos": "87376983", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E763", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P20936-1.749.749", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P20936-1.777.777", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.777.777", "start_pos": 777, "end_pos": 777, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "LRIFLHEKLESLLLCTLNDR", "down_seq": "ISMEDEATTLFRATTLASTL", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "13", "frequency": "0.8", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: patient count (13/1704).", "chr_id": "5", "chr_pos": "87377025", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E777", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P20936-1.763.763", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.802.802", "start_pos": 802, "end_pos": 802, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "DEATTLFRATTLASTLMEQY", "down_seq": "KATATQFVHHALKDSILKIM", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "5", "chr_pos": "87378457", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "M802", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "P20936-1.815.815", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.815.815", "start_pos": 815, "end_pos": 815, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1300223288", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1300223288", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1300223288", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1300223288#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1300223288", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1300223288", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "STLMEQYMKATATQFVHHAL", "down_seq": "DSILKIMESKQSCELSPSKL", "snv": [ { "evidence": [ { "id": "rs1300223288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1300223288" }, { "id": "rs1300223288", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1300223288#frequency_tab" }, { "id": "rs1300223288", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1300223288" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KDS->NDS).", "chr_id": "5", "chr_pos": "87378496", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K815", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P20936-1.802.802", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P20936-1.827.827", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P20936-1.831.831", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.850.850", "start_pos": 850, "end_pos": 850, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LSPSKLEKNEDVNTNLTHLL", "down_seq": "ILSELVEKIFMASEILPPTL", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "87379796", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N850", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P20936-1.831.831", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.882.882", "start_pos": 882, "end_pos": 882, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "ASEILPPTLRYIYGCLQKSV", "down_seq": "HKWPTNTTMRTRVVSGFVFL", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "87380549", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q882", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.903.903", "start_pos": 903, "end_pos": 903, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "HKWPTNTTMRTRVVSGFVFL", "down_seq": "LICPAILNPRMFNIISDSPS", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "5", "chr_pos": "87383729", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R903", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.941.941", "start_pos": 941, "end_pos": 941, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P20936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SPSPIAARTLILVAKSVQNL", "down_seq": "NLVEFGAKEPYMEGVNPFIK", "snv": [ { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLS).", "chr_id": "5", "chr_pos": "87385363", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A941", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P20936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20936" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "5", "chr_pos": "87385363", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A941", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.978.978", "start_pos": 978, "end_pos": 978, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs779355643", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779355643", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779355643", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779355643", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779355643", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779355643", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PFIKSNKHRMIMFLDELGNV", "down_seq": "ELPDTTEHSRTDLSRDLAAL", "snv": [ { "evidence": [ { "id": "rs779355643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779355643" }, { "id": "rs779355643", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779355643" }, { "id": "rs779355643", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779355643" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "5", "chr_pos": "87389399", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P978", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "P20936-1.990.990", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.990.990", "start_pos": 990, "end_pos": 990, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs867499313", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867499313", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs867499313", "url": "https://www.ensembl.org/id/rs867499313", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "FLDELGNVPELPDTTEHSRT", "down_seq": "LSRDLAALHEICVAHSDELR", "snv": [ { "evidence": [ { "id": "rs867499313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867499313" }, { "id": "rs867499313", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867499313" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "5", "chr_pos": "87389435", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D990", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P20936-1.978.978", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P20936-1.1010.1010", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P20936-1.615.615", "start_pos": 615, "end_pos": 615, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" }, { "database": "iPTMnet", "id": "P20936-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20936-1" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "P20936-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20936-1" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] } ], "crossref": [ { "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P20936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20936", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "SLVLHIEEAHKLPVKHFTNP", "down_seq": "CNIYLNSVQVAKTHAREGQN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "iPTMnet", "id": "P20936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20936" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ], "site_lbl": "Tyr615" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P20936-1.827.827", "start_pos": 827, "end_pos": 827, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P20936-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20936-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "P20936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20936", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TQFVHHALKDSILKIMESKQ", "down_seq": "CELSPSKLEKNEDVNTNLTH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P20936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20936" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser827" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P20936-1.815.815", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P20936-1.831.831", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P20936-1.831.831", "start_pos": 831, "end_pos": 831, "uniprot_canonical_ac": "P20936-1", "length": 1047, "uniprot_id": "RASA1_HUMAN", "protein_name": "Ras GTPase-activating protein 1", "refseq_ac": "NP_002881", "refseq_name": "ras GTPase-activating protein 1 isoform 1", "gene_name": "RASA1", "gene_names_uniprotkb": "RASA1; GAP; RASA", "gene_names_refseq": "CM-AVM; CMAVM1; CMAVM; GAP; PKWS; RASA1; RASA; RASGAP; p120GAP; p120RASGAP; p120", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" }, { "database": "iPTMnet", "id": "P20936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20936" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P20936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20936", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HHALKDSILKIMESKQSCEL", "down_seq": "PSKLEKNEDVNTNLTHLLNI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P20936", "url": "https://www.uniprot.org/uniprotkb/P20936" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P20936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20936" } ], "site_lbl": "Ser831" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "451", "end_pos": "451" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "580", "end_pos": "580" }, { "start_pos": "589", "end_pos": "589" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "721", "end_pos": "721" }, { "start_pos": "749", "end_pos": "749" }, { "start_pos": "763", "end_pos": "763" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "815", "end_pos": "815" }, { "start_pos": "850", "end_pos": "850" }, { "start_pos": "882", "end_pos": "882" }, { "start_pos": "903", "end_pos": "903" }, { "start_pos": "941", "end_pos": "941" }, { "start_pos": "978", "end_pos": "978" }, { "start_pos": "990", "end_pos": "990" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "460", "end_pos": "460" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "827", "end_pos": "827" }, { "start_pos": "831", "end_pos": "831" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P20936-1.815.815", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P20936-1.827.827", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P20936-1.850.850", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.146.146", "start_pos": 146, "end_pos": 146, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "sSgo1, a major splice variant of Sgo1, functions in centriole cohesion where it is regulated by Plk1.", "journal": "Developmental cell", "date": "2008", "authors": "Wang X, Yang Y, Duan Q, Jiang N, Huang Y, Darzynkiewicz Z, Dai W", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "RefSeq", "id": "NP_001012409", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012409" }, { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" } ], "reference": [ { "type": "PubMed", "id": "18331714", "url": "https://glygen.org/publication/PubMed/18331714" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18331714", "url": "https://glygen.org/publication/PubMed/18331714", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SDDSSRNLFVKDLPQIPLEE", "down_seq": "ELPGQGESFQIEDQIPTIPQ", "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Loss of proper localization to spindle pole and mitotic spindle. Significant increase in split spindle poles.", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "PubMed", "id": "18331714", "url": "https://glygen.org/publication/PubMed/18331714" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P53350-1", "kinase_gene_name": "PLK1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" }, { "database": "PubMed", "id": "18331714", "url": "https://glygen.org/publication/PubMed/18331714" } ], "site_lbl": "Thr146" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.14.14", "start_pos": 14, "end_pos": 14, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphorylation of human Sgo1 by NEK2A is essential for chromosome congression in mitosis.", "journal": "Cell research", "date": "2007", "authors": "Fu G, Ding X, Yuan K, Aikhionbare F, Yao J, Cai X, Jiang K, Yao X", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" } ], "reference": [ { "type": "PubMed", "id": "17621308", "url": "https://glygen.org/publication/PubMed/17621308" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17621308", "url": "https://glygen.org/publication/PubMed/17621308", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MAKERCLKKSFQD", "down_seq": "LEDIKKRMKEKRNKNLAEIG", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation and presence of misaligned chromosomes; when associated with A-507.", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "PubMed", "id": "17621308", "url": "https://glygen.org/publication/PubMed/17621308" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P51955-1", "kinase_gene_name": "NEK2", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" }, { "database": "PubMed", "id": "17621308", "url": "https://glygen.org/publication/PubMed/17621308" } ], "site_lbl": "Ser14" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by NEK2", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" }, { "database": "PubMed", "id": "17621308", "url": "https://glygen.org/publication/PubMed/17621308" } ], "site_lbl": "Ser14" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.451.451", "start_pos": 451, "end_pos": 451, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mitotic centromeric targeting of HP1 and its binding to Sgo1 are dispensable for sister-chromatid cohesion in human cells.", "journal": "Molecular biology of the cell", "date": "2011", "authors": "Kang J, Chaudhary J, Dong H, Kim S, Brautigam CA, Yu H", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "reference": [ { "type": "PubMed", "id": "21346195", "url": "https://glygen.org/publication/PubMed/21346195" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21346195", "url": "https://glygen.org/publication/PubMed/21346195", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PETQQSPHLSLKDITNVSLY", "down_seq": "VVKIRRLSLSPKKNKASPAV", "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Disrupts interaction with CBX5, loss of localization to centromeres in interphase, no effect on localization to centromeres in mitosis; when associated with A-453 and A-455.", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "PubMed", "id": "21346195", "url": "https://glygen.org/publication/PubMed/21346195" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q5FBB7-1.433.433", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q5FBB7-1.436.436", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q5FBB7-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5FBB7-1.453.453", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q5FBB7-1.455.455", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q5FBB7-1.459.459", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q5FBB7-1.461.461", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q5FBB7-1.468.468", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.453.453", "start_pos": 453, "end_pos": 453, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mitotic centromeric targeting of HP1 and its binding to Sgo1 are dispensable for sister-chromatid cohesion in human cells.", "journal": "Molecular biology of the cell", "date": "2011", "authors": "Kang J, Chaudhary J, Dong H, Kim S, Brautigam CA, Yu H", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "reference": [ { "type": "PubMed", "id": "21346195", "url": "https://glygen.org/publication/PubMed/21346195" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21346195", "url": "https://glygen.org/publication/PubMed/21346195", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "TQQSPHLSLKDITNVSLYPV", "down_seq": "KIRRLSLSPKKNKASPAVAL", "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Disrupts interaction with CBX5, loss of localization to centromeres in interphase, no effect on localization to centromeres in mitosis; when associated with A-451 and A-455.", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "PubMed", "id": "21346195", "url": "https://glygen.org/publication/PubMed/21346195" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q5FBB7-1.433.433", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q5FBB7-1.436.436", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q5FBB7-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5FBB7-1.451.451", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5FBB7-1.455.455", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q5FBB7-1.459.459", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q5FBB7-1.461.461", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q5FBB7-1.468.468", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.455.455", "start_pos": 455, "end_pos": 455, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mitotic centromeric targeting of HP1 and its binding to Sgo1 are dispensable for sister-chromatid cohesion in human cells.", "journal": "Molecular biology of the cell", "date": "2011", "authors": "Kang J, Chaudhary J, Dong H, Kim S, Brautigam CA, Yu H", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "reference": [ { "type": "PubMed", "id": "21346195", "url": "https://glygen.org/publication/PubMed/21346195" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21346195", "url": "https://glygen.org/publication/PubMed/21346195", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "QSPHLSLKDITNVSLYPVVK", "down_seq": "RRLSLSPKKNKASPAVALPK", "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "Disrupts interaction with CBX5, loss of localization to centromeres in interphase, no effect on localization to centromeres in mitosis; when associated with A-451 and A-453.", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "PubMed", "id": "21346195", "url": "https://glygen.org/publication/PubMed/21346195" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q5FBB7-1.436.436", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q5FBB7-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q5FBB7-1.451.451", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5FBB7-1.453.453", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q5FBB7-1.459.459", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q5FBB7-1.461.461", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q5FBB7-1.468.468", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.492.492", "start_pos": 492, "end_pos": 492, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "PP2A is required for centromeric localization of Sgo1 and proper chromosome segregation.", "journal": "Developmental cell", "date": "2006", "authors": "Tang Z, Shu H, Qi W, Mahmood NA, Mumby MC, Yu H", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "reference": [ { "type": "PubMed", "id": "16580887", "url": "https://glygen.org/publication/PubMed/16580887" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16580887", "url": "https://glygen.org/publication/PubMed/16580887", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ALPKRRCTASVNYKEPTLAS", "down_seq": "LRRGDPFTDLCFLNSPIFKQ", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of centromeric localization.", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "PubMed", "id": "16580887", "url": "https://glygen.org/publication/PubMed/16580887" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q5FBB7-1.500.500", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q5FBB7-1.507.507", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.507.507", "start_pos": 507, "end_pos": 507, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphorylation of human Sgo1 by NEK2A is essential for chromosome congression in mitosis.", "journal": "Cell research", "date": "2007", "authors": "Fu G, Ding X, Yuan K, Aikhionbare F, Yao J, Cai X, Jiang K, Yao X", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" } ], "reference": [ { "type": "PubMed", "id": "17621308", "url": "https://glygen.org/publication/PubMed/17621308" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "iPTMnet", "id": "Q5FBB7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17621308", "url": "https://glygen.org/publication/PubMed/17621308", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PTLASKLRRGDPFTDLCFLN", "down_seq": "PIFKQKKDLRRSKKRALEVS", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation; and presence of misaligned chromosomes; when associated with A-14.", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "PubMed", "id": "17621308", "url": "https://glygen.org/publication/PubMed/17621308" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P51955-1", "kinase_gene_name": "NEK2", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" }, { "database": "PubMed", "id": "17621308", "url": "https://glygen.org/publication/PubMed/17621308" } ], "site_lbl": "Ser507" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by NEK2", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "17621308", "url": "https://glygen.org/publication/PubMed/17621308" } ], "site_lbl": "Ser507" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q5FBB7-1.492.492", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q5FBB7-1.500.500", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.61.61", "start_pos": 61, "end_pos": 61, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "PP2A is required for centromeric localization of Sgo1 and proper chromosome segregation.", "journal": "Developmental cell", "date": "2006", "authors": "Tang Z, Shu H, Qi W, Mahmood NA, Mumby MC, Yu H", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "reference": [ { "type": "PubMed", "id": "16580887", "url": "https://glygen.org/publication/PubMed/16580887" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16580887", "url": "https://glygen.org/publication/PubMed/16580887", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "AAPCQIITNTSTLLKNYQDN", "down_seq": "KMLVLALENEKSKVKEAQDI", "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Loss of interaction with PPP2CA and PPP2R1A and loss of centromeric localization.", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "PubMed", "id": "16580887", "url": "https://glygen.org/publication/PubMed/16580887" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q5FBB7-1.73.73", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q5FBB7-1.80.80", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.73.73", "start_pos": 73, "end_pos": 73, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "sSgo1, a major splice variant of Sgo1, functions in centriole cohesion where it is regulated by Plk1.", "journal": "Developmental cell", "date": "2008", "authors": "Wang X, Yang Y, Duan Q, Jiang N, Huang Y, Darzynkiewicz Z, Dai W", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "RefSeq", "id": "NP_001012409", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012409" }, { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" } ], "reference": [ { "type": "PubMed", "id": "18331714", "url": "https://glygen.org/publication/PubMed/18331714" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18331714", "url": "https://glygen.org/publication/PubMed/18331714", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LLKNYQDNNKMLVLALENEK", "down_seq": "KVKEAQDIILQLRKECYYLT", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of proper localization to spindle pole and mitotic spindle. Significant increase in split spindle poles.", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "PubMed", "id": "18331714", "url": "https://glygen.org/publication/PubMed/18331714" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P53350-1", "kinase_gene_name": "PLK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" }, { "database": "PubMed", "id": "18331714", "url": "https://glygen.org/publication/PubMed/18331714" } ], "site_lbl": "Ser73" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q5FBB7-1.61.61", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5FBB7-1.80.80", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.322.322", "start_pos": 322, "end_pos": 322, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5FBB7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5FBB7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "KSKRMSKYKENKSENKKTVP", "down_seq": "KKMHKSVSSNDAYNFNLEEG", "snv": [ { "evidence": [ { "id": "Q5FBB7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5FBB7" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "3", "frequency": "0.4", "sequence_org": "Q", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "3", "chr_pos": "20174566", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Q322", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5FBB7-1.36.36", "start_pos": 36, "end_pos": 36, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5FBB7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5FBB7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EDIKKRMKEKRNKNLAEIGK", "down_seq": "RSFIAAPCQIITNTSTLLKN", "snv": [ { "evidence": [ { "id": "Q5FBB7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5FBB7" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "3", "chr_pos": "20183921", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R36", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5FBB7-1.389.389", "start_pos": 389, "end_pos": 389, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5FBB7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5FBB7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "CESSGSGDDSDDLYLPTCKY", "down_seq": "QNPTSNSDRPVTRPLAKRAL", "snv": [ { "evidence": [ { "id": "Q5FBB7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5FBB7" } ], "glycoeffect": [], "subjects_tested": "1557", "subjects_positive": "10", "frequency": "0.6", "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: patient count (10/1557).", "chr_id": "3", "chr_pos": "20174365", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I389", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5FBB7-1.540.540", "start_pos": 540, "end_pos": 540, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5FBB7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5FBB7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KKRALEVSPAKEAIFILYYV", "down_seq": "EFVSRFPDCRKCKLETHICL", "snv": [ { "evidence": [ { "id": "Q5FBB7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5FBB7" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "20161173", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R540", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5FBB7-1.80.80", "start_pos": 80, "end_pos": 80, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5FBB7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5FBB7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "NNKMLVLALENEKSKVKEAQ", "down_seq": "IILQLRKECYYLTCQLYALK", "snv": [ { "evidence": [ { "id": "Q5FBB7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5FBB7" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "20183709", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D80", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q5FBB7-1.61.61", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q5FBB7-1.73.73", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5FBB7-1.256.256", "start_pos": 256, "end_pos": 256, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "iPTMnet", "id": "Q5FBB7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HIPENVQHNACQWSKDQVNL", "down_seq": "PKLIQPGTFTKTKEDILESK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser256" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.346.346", "start_pos": 346, "end_pos": 346, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phospho-H2A and cohesin specify distinct tension-regulated Sgo1 pools at kinetochores and inner centromeres.", "journal": "Current biology : CB", "date": "2013", "authors": "Liu H, Jia L, Yu H", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" } ], "reference": [ { "type": "PubMed", "id": "24055156", "url": "https://glygen.org/publication/PubMed/24055156" } ] }, { "title": "Familial STAG2 germline mutation defines a new human cohesinopathy.", "journal": "NPJ genomic medicine", "date": "2017", "authors": "Soardi FC, Machado-Silva A, Linhares ND, Zheng G, Qu Q, Pena HB, Martins TMM, Vieira HGS, Pereira NB, Melo-Minardi RC, Gomes CC, Gomez RS, Gomes DA, Pires DEV, Ascher DB, Yu H, Pena SDJ", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" } ], "reference": [ { "type": "PubMed", "id": "29263825", "url": "https://glygen.org/publication/PubMed/29263825" } ] }, { "title": "Phosphorylation-enabled binding of SGO1-PP2A to cohesin protects sororin and centromeric cohesion during mitosis.", "journal": "Nature cell biology", "date": "2013", "authors": "Liu H, Rankin S, Yu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-69273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69273" }, { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" } ], "reference": [ { "type": "PubMed", "id": "23242214", "url": "https://glygen.org/publication/PubMed/23242214" } ] }, { "title": "Structure of cohesin subcomplex pinpoints direct shugoshin-Wapl antagonism in centromeric cohesion.", "journal": "Nature structural & molecular biology", "date": "2014", "authors": "Hara K, Zheng G, Qu Q, Liu H, Ouyang Z, Chen Z, Tomchick DR, Yu H", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" } ], "reference": [ { "type": "PubMed", "id": "25173175", "url": "https://glygen.org/publication/PubMed/25173175" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "24055156", "url": "https://glygen.org/publication/PubMed/24055156", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5FBB7", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q5FBB7*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "29263825", "url": "https://glygen.org/publication/PubMed/29263825", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23242214", "url": "https://glygen.org/publication/PubMed/23242214", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25173175", "url": "https://glygen.org/publication/PubMed/25173175", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "HKSVSSNDAYNFNLEEGVHL", "down_seq": "PFRQKVSNDSNREENNESEV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P06493-1", "kinase_gene_name": "CDK1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" }, { "database": "PubMed", "id": "24055156", "url": "https://glygen.org/publication/PubMed/24055156" } ], "site_lbl": "Thr346" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "IntAct", "id": "Q5FBB7", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q5FBB7*" }, { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" }, { "database": "PubMed", "id": "29263825", "url": "https://glygen.org/publication/PubMed/29263825" }, { "database": "PubMed", "id": "23242214", "url": "https://glygen.org/publication/PubMed/23242214" }, { "database": "PubMed", "id": "25173175", "url": "https://glygen.org/publication/PubMed/25173175" } ], "site_lbl": "Thr346" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.425.425", "start_pos": 425, "end_pos": 425, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "AKRALKYTDEKETEGSKPTK", "down_seq": "PTTTPPETQQSPHLSLKDIT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Thr425" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q5FBB7-1.429.429", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q5FBB7-1.433.433", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q5FBB7-1.436.436", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q5FBB7-1.440.440", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.429.429", "start_pos": 429, "end_pos": 429, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "iPTMnet", "id": "Q5FBB7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LKYTDEKETEGSKPTKTPTT", "down_seq": "PPETQQSPHLSLKDITNVSL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr429" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q5FBB7-1.425.425", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q5FBB7-1.433.433", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5FBB7-1.436.436", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q5FBB7-1.440.440", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.433.433", "start_pos": 433, "end_pos": 433, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DEKETEGSKPTKTPTTTPPE", "down_seq": "QQSPHLSLKDITNVSLYPVV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Thr433" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q5FBB7-1.425.425", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q5FBB7-1.429.429", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q5FBB7-1.436.436", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5FBB7-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q5FBB7-1.451.451", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q5FBB7-1.453.453", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.436.436", "start_pos": 436, "end_pos": 436, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "iPTMnet", "id": "Q5FBB7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Multiple anaphase-promoting complex/cyclosome degrons mediate the degradation of human Sgo1.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Karamysheva Z, Diaz-Martinez LA, Crow SE, Li B, Yu H", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" } ], "reference": [ { "type": "PubMed", "id": "19015261", "url": "https://glygen.org/publication/PubMed/19015261" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19015261", "url": "https://glygen.org/publication/PubMed/19015261", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ETEGSKPTKTPTTTPPETQQ", "down_seq": "PHLSLKDITNVSLYPVVKIR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "19015261", "url": "https://glygen.org/publication/PubMed/19015261" } ], "site_lbl": "Ser436" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q5FBB7-1.425.425", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q5FBB7-1.429.429", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q5FBB7-1.433.433", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q5FBB7-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q5FBB7-1.451.451", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q5FBB7-1.453.453", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q5FBB7-1.455.455", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.440.440", "start_pos": 440, "end_pos": 440, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Multiple anaphase-promoting complex/cyclosome degrons mediate the degradation of human Sgo1.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Karamysheva Z, Diaz-Martinez LA, Crow SE, Li B, Yu H", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" } ], "reference": [ { "type": "PubMed", "id": "19015261", "url": "https://glygen.org/publication/PubMed/19015261" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19015261", "url": "https://glygen.org/publication/PubMed/19015261", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SKPTKTPTTTPPETQQSPHL", "down_seq": "LKDITNVSLYPVVKIRRLSL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" }, { "database": "PubMed", "id": "19015261", "url": "https://glygen.org/publication/PubMed/19015261" } ], "site_lbl": "Ser440" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q5FBB7-1.425.425", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q5FBB7-1.429.429", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q5FBB7-1.433.433", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q5FBB7-1.436.436", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q5FBB7-1.451.451", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q5FBB7-1.453.453", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q5FBB7-1.455.455", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q5FBB7-1.459.459", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.459.459", "start_pos": 459, "end_pos": 459, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "iPTMnet", "id": "Q5FBB7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LSLKDITNVSLYPVVKIRRL", "down_seq": "LSPKKNKASPAVALPKRRCT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser459" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q5FBB7-1.440.440", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q5FBB7-1.451.451", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q5FBB7-1.453.453", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q5FBB7-1.455.455", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5FBB7-1.461.461", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q5FBB7-1.468.468", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.461.461", "start_pos": 461, "end_pos": 461, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "iPTMnet", "id": "Q5FBB7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LKDITNVSLYPVVKIRRLSL", "down_seq": "PKKNKASPAVALPKRRCTAS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser461" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q5FBB7-1.451.451", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q5FBB7-1.453.453", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q5FBB7-1.455.455", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5FBB7-1.459.459", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5FBB7-1.468.468", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.468.468", "start_pos": 468, "end_pos": 468, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis.", "journal": "Analytical chemistry", "date": "2008", "authors": "Wang B, Malik R, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7-1" } ], "reference": [ { "type": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SLYPVVKIRRLSLSPKKNKA", "down_seq": "PAVALPKRRCTASVNYKEPT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ], "site_lbl": "Ser468" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q5FBB7-1.451.451", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q5FBB7-1.453.453", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q5FBB7-1.455.455", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q5FBB7-1.459.459", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q5FBB7-1.461.461", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5FBB7-1.500.500", "start_pos": 500, "end_pos": 500, "uniprot_canonical_ac": "Q5FBB7-1", "length": 561, "uniprot_id": "SGO1_HUMAN", "protein_name": "Shugoshin 1", "refseq_ac": "NP_001012409", "refseq_name": "shugoshin 1 isoform 1", "gene_name": "SGO1", "gene_names_uniprotkb": "SGO1; SGOL1", "gene_names_refseq": "CAID; NY-BR-85; SGO1; SGOL1; SGO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5FBB7", "url": "https://www.uniprot.org/uniprotkb/Q5FBB7" }, { "database": "iPTMnet", "id": "Q5FBB7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ASVNYKEPTLASKLRRGDPF", "down_seq": "DLCFLNSPIFKQKKDLRRSK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5FBB7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5FBB7" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr500" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "492", "end_pos": "492" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "73", "end_pos": "73" } ] }, { "type": "snv", "site_list": [ { "start_pos": "322", "end_pos": "322" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "80", "end_pos": "80" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "440", "end_pos": "440" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "468", "end_pos": "468" }, { "start_pos": "500", "end_pos": "500" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "73", "end_pos": "73" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q5FBB7-1.492.492", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5FBB7-1.507.507", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P37802-1.106.106", "start_pos": 106, "end_pos": 106, "uniprot_canonical_ac": "P37802-1", "length": 199, "uniprot_id": "TAGL2_HUMAN", "protein_name": "Transgelin-2", "refseq_ac": "NP_001264152", "refseq_name": "transgelin-2 isoform b", "gene_name": "TAGLN2", "gene_names_uniprotkb": "TAGLN2; CDABP0035; KIAA0120", "gene_names_refseq": "HA1756; TAGLN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "rs1650463135", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1650463135", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1650463135", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1650463135", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs747745183", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747745183", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs747745183", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747745183", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs747745183", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747745183", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "AFKQMEQISQFLQAAERYGI", "down_seq": "TTDIFQTVDLWEGKNMACVQ", "glycosylation": [ { "glytoucan_ac": "G63041LO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YGINTTDIFQTVDLWEGKNMACVQRTLMNLGGLAVAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn106", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "snv": [ { "evidence": [ { "id": "rs1650463135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1650463135" }, { "id": "rs1650463135", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1650463135" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTT->DTT).", "chr_id": "1", "chr_pos": "159919700", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N106", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747745183", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747745183" }, { "id": "rs747745183", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747745183" }, { "id": "rs747745183", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747745183" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTT->STT).", "chr_id": "1", "chr_pos": "159919699", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N106", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "snv", "site_list": [ { "start_pos": "163", "end_pos": "163" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "84", "end_pos": "84" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "P37802-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P37802-1.108.108", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P37802-1.161.161", "start_pos": 161, "end_pos": 161, "uniprot_canonical_ac": "P37802-1", "length": 199, "uniprot_id": "TAGL2_HUMAN", "protein_name": "Transgelin-2", "refseq_ac": "NP_001264152", "refseq_name": "transgelin-2 isoform b", "gene_name": "TAGLN2", "gene_names_uniprotkb": "TAGLN2; CDABP0035; KIAA0120", "gene_names_refseq": "HA1756; TAGLN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "DGLFSGDPNWFPKKSKENPR", "down_seq": "FSDNQLQEGKNVIGLQMGTN", "glycosylation": [ { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NFSDNQLQEGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn161", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "snv", "site_list": [ { "start_pos": "163", "end_pos": "163" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "84", "end_pos": "84" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P37802-1.145.145", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P37802-1.153.153", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P37802-1.163.163", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P37802-1.180.180", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P37802-1.163.163", "start_pos": 163, "end_pos": 163, "uniprot_canonical_ac": "P37802-1", "length": 199, "uniprot_id": "TAGL2_HUMAN", "protein_name": "Transgelin-2", "refseq_ac": "NP_001264152", "refseq_name": "transgelin-2 isoform b", "gene_name": "TAGLN2", "gene_names_uniprotkb": "TAGLN2; CDABP0035; KIAA0120", "gene_names_refseq": "HA1756; TAGLN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Global identification of O-GlcNAc-modified proteins.", "journal": "Analytical chemistry", "date": "2006", "authors": "Nandi A, Sprung R, Barma DK, Zhao Y, Kim SC, Falck JR, Zhao Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "16408927", "url": "https://glygen.org/publication/PubMed/16408927" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" }, { "database": "O-GlcNAc Atlas", "id": "P37802", "url": "https://oglcnac.org/atlas/detail/P37802" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" }, { "database": "O-GlcNAc Atlas", "id": "P37802", "url": "https://oglcnac.org/atlas/detail/P37802" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" }, { "database": "iPTMnet", "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" }, { "database": "iPTMnet", "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Phosphoproteome of resting human platelets.", "journal": "Journal of proteome research", "date": "2008", "authors": "Zahedi RP, Lewandrowski U, Wiesner J, Wortelkamp S, Moebius J, Schutz C, Walter U, Gambaryan S, Sickmann A", "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" }, { "database": "iPTMnet", "id": "P37802-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802-1" } ], "reference": [ { "type": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" }, { "database": "iPTMnet", "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" }, { "database": "iPTMnet", "id": "P37802-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Hydrophilic interaction chromatography reduces the complexity of the phosphoproteome and improves global phosphopeptide isolation and detection.", "journal": "Molecular & cellular proteomics : MCP", "date": "2008", "authors": "McNulty DE, Annan RS", "evidence": [ { "database": "iPTMnet", "id": "P37802-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802-1" } ], "reference": [ { "type": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "P37802-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "P37802-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802-1" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "P37802-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P37802-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Exploring the human leukocyte phosphoproteome using a microfluidic reversed-phase-TiO2-reversed-phase high-performance liquid chromatography phosphochip coupled to a quadrupole time-of-flight mass spectrometer.", "journal": "Analytical chemistry", "date": "2010", "authors": "Raijmakers R, Kraiczek K, de Jong AP, Mohammed S, Heck AJ", "evidence": [ { "database": "iPTMnet", "id": "P37802-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802-1" } ], "reference": [ { "type": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "P37802-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Label-free quantitative phosphorylation analysis of human transgelin2 in Jurkat T cells reveals distinct phosphorylation patterns under PKA and PKC activation conditions.", "journal": "Proteome science", "date": "2015", "authors": "Jang SH, Jun CD, Park ZY", "evidence": [ { "database": "iPTMnet", "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802" } ], "reference": [ { "type": "PubMed", "id": "25844069", "url": "https://glygen.org/publication/PubMed/25844069" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16408927", "url": "https://glygen.org/publication/PubMed/16408927", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P37802", "url": "https://oglcnac.org/atlas/detail/P37802", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs778503050", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778503050", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778503050", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778503050", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778503050", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778503050#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs778503050", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778503050", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs745389284", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745389284", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs745389284", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745389284", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs745389284", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745389284", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25844069", "url": "https://glygen.org/publication/PubMed/25844069", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LFSGDPNWFPKKSKENPRNF", "down_seq": "DNQLQEGKNVIGLQMGTNRG", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser163", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "P37802", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "16408927", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16408927" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "P37802", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P37802" } ] } ], "snv": [ { "evidence": [ { "id": "rs778503050", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778503050" }, { "id": "rs778503050", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778503050" }, { "id": "rs778503050", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778503050#frequency_tab" }, { "id": "rs778503050", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778503050" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NFS->NFL); o-glyco-site-loss (S->L).", "chr_id": "1", "chr_pos": "159918912", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745389284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745389284" }, { "id": "rs745389284", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745389284" }, { "id": "rs745389284", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745389284" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NFS->NFP); o-glyco-site-loss (S->P).", "chr_id": "1", "chr_pos": "159918913", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S163", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "PubMed", "id": "25844069", "url": "https://glygen.org/publication/PubMed/25844069" } ], "site_lbl": "Ser163" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "snv", "site_list": [ { "start_pos": "163", "end_pos": "163" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "84", "end_pos": "84" } ] } ], "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P37802-1.145.145", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P37802-1.153.153", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P37802-1.161.161", "categories": [ "glycosylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P37802-1.180.180", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 23 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P37802-1.185.185", "start_pos": 185, "end_pos": 185, "uniprot_canonical_ac": "P37802-1", "length": 199, "uniprot_id": "TAGL2_HUMAN", "protein_name": "Transgelin-2", "refseq_ac": "NP_001264152", "refseq_name": "transgelin-2 isoform b", "gene_name": "TAGLN2", "gene_names_uniprotkb": "TAGLN2; CDABP0035; KIAA0120", "gene_names_refseq": "HA1756; TAGLN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Global identification of O-GlcNAc-modified proteins.", "journal": "Analytical chemistry", "date": "2006", "authors": "Nandi A, Sprung R, Barma DK, Zhao Y, Kim SC, Falck JR, Zhao Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "16408927", "url": "https://glygen.org/publication/PubMed/16408927" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" }, { "database": "O-GlcNAc Atlas", "id": "P37802", "url": "https://oglcnac.org/atlas/detail/P37802" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" }, { "database": "O-GlcNAc Atlas", "id": "P37802", "url": "https://oglcnac.org/atlas/detail/P37802" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Phosphoproteome of resting human platelets.", "journal": "Journal of proteome research", "date": "2008", "authors": "Zahedi RP, Lewandrowski U, Wiesner J, Wortelkamp S, Moebius J, Schutz C, Walter U, Gambaryan S, Sickmann A", "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" }, { "database": "iPTMnet", "id": "P37802-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802-1" } ], "reference": [ { "type": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" } ] }, { "title": "Hydrophilic interaction chromatography reduces the complexity of the phosphoproteome and improves global phosphopeptide isolation and detection.", "journal": "Molecular & cellular proteomics : MCP", "date": "2008", "authors": "McNulty DE, Annan RS", "evidence": [ { "database": "iPTMnet", "id": "P37802-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802-1" } ], "reference": [ { "type": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "P37802-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Label-free quantitative phosphorylation analysis of human transgelin2 in Jurkat T cells reveals distinct phosphorylation patterns under PKA and PKC activation conditions.", "journal": "Proteome science", "date": "2015", "authors": "Jang SH, Jun CD, Park ZY", "evidence": [ { "database": "iPTMnet", "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802" } ], "reference": [ { "type": "PubMed", "id": "25844069", "url": "https://glygen.org/publication/PubMed/25844069" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16408927", "url": "https://glygen.org/publication/PubMed/16408927", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P37802", "url": "https://oglcnac.org/atlas/detail/P37802", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs924908667", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs924908667", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs924908667", "url": "https://www.ncbi.nlm.nih.gov/snp/rs924908667#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs924908667", "url": "http://gnomad.broadinstitute.org/awesome?query=rs924908667", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25844069", "url": "https://glygen.org/publication/PubMed/25844069", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NQLQEGKNVIGLQMGTNRGA", "down_seq": "QAGMTGYGMPRQIL", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser185", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "P37802", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "16408927", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16408927" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "P37802", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P37802" } ] } ], "snv": [ { "evidence": [ { "id": "rs924908667", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs924908667" }, { "id": "rs924908667", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs924908667#frequency_tab" }, { "id": "rs924908667", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs924908667" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->C).", "chr_id": "1", "chr_pos": "159918846", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S185", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802" }, { "database": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "25844069", "url": "https://glygen.org/publication/PubMed/25844069" } ], "site_lbl": "Ser185" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "snv", "site_list": [ { "start_pos": "163", "end_pos": "163" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "84", "end_pos": "84" } ] } ], "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "P37802-1.180.180", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P37802-1.190.190", "categories": [ "glycosylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P37802-1.192.192", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 14 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P37802-1.190.190", "start_pos": 190, "end_pos": 190, "uniprot_canonical_ac": "P37802-1", "length": 199, "uniprot_id": "TAGL2_HUMAN", "protein_name": "Transgelin-2", "refseq_ac": "NP_001264152", "refseq_name": "transgelin-2 isoform b", "gene_name": "TAGLN2", "gene_names_uniprotkb": "TAGLN2; CDABP0035; KIAA0120", "gene_names_refseq": "HA1756; TAGLN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Global identification of O-GlcNAc-modified proteins.", "journal": "Analytical chemistry", "date": "2006", "authors": "Nandi A, Sprung R, Barma DK, Zhao Y, Kim SC, Falck JR, Zhao Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "16408927", "url": "https://glygen.org/publication/PubMed/16408927" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" }, { "database": "O-GlcNAc Atlas", "id": "P37802", "url": "https://oglcnac.org/atlas/detail/P37802" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" }, { "database": "O-GlcNAc Atlas", "id": "P37802", "url": "https://oglcnac.org/atlas/detail/P37802" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16408927", "url": "https://glygen.org/publication/PubMed/16408927", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P37802", "url": "https://oglcnac.org/atlas/detail/P37802", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GKNVIGLQMGTNRGASQAGM", "down_seq": "GYGMPRQIL", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr190", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "P37802", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "16408927", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16408927" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "P37802", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P37802" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "snv", "site_list": [ { "start_pos": "163", "end_pos": "163" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "84", "end_pos": "84" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "P37802-1.180.180", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P37802-1.185.185", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P37802-1.192.192", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 10 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P37802-1.83.83", "start_pos": 83, "end_pos": 83, "uniprot_canonical_ac": "P37802-1", "length": 199, "uniprot_id": "TAGL2_HUMAN", "protein_name": "Transgelin-2", "refseq_ac": "NP_001264152", "refseq_name": "transgelin-2 isoform b", "gene_name": "TAGLN2", "gene_names_uniprotkb": "TAGLN2; CDABP0035; KIAA0120", "gene_names_refseq": "HA1756; TAGLN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Global identification of O-GlcNAc-modified proteins.", "journal": "Analytical chemistry", "date": "2006", "authors": "Nandi A, Sprung R, Barma DK, Zhao Y, Kim SC, Falck JR, Zhao Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "16408927", "url": "https://glygen.org/publication/PubMed/16408927" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" }, { "database": "O-GlcNAc Atlas", "id": "P37802", "url": "https://oglcnac.org/atlas/detail/P37802" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" }, { "database": "O-GlcNAc Atlas", "id": "P37802", "url": "https://oglcnac.org/atlas/detail/P37802" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16408927", "url": "https://glygen.org/publication/PubMed/16408927", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P37802", "url": "https://oglcnac.org/atlas/detail/P37802", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs768602219", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768602219", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768602219", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768602219", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768602219", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768602219", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CELINALYPEGQAPVKKIQA", "down_seq": "TMAFKQMEQISQFLQAAERY", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser83", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "P37802", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "16408927", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16408927" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "P37802", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P37802" } ] } ], "snv": [ { "evidence": [ { "id": "rs768602219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768602219" }, { "id": "rs768602219", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768602219" }, { "id": "rs768602219", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768602219" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->C).", "chr_id": "1", "chr_pos": "159919768", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S83", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768602219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768602219" }, { "id": "rs768602219", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768602219" }, { "id": "rs768602219", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768602219" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "1", "chr_pos": "159919768", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S83", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "snv", "site_list": [ { "start_pos": "163", "end_pos": "163" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "84", "end_pos": "84" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "P37802-1.84.84", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P37802-1.102.102", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 10 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P37802-1.84.84", "start_pos": 84, "end_pos": 84, "uniprot_canonical_ac": "P37802-1", "length": 199, "uniprot_id": "TAGL2_HUMAN", "protein_name": "Transgelin-2", "refseq_ac": "NP_001264152", "refseq_name": "transgelin-2 isoform b", "gene_name": "TAGLN2", "gene_names_uniprotkb": "TAGLN2; CDABP0035; KIAA0120", "gene_names_refseq": "HA1756; TAGLN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P37802", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37802" }, { "database": "O-GlcNAc Atlas", "id": "P37802", "url": "https://oglcnac.org/atlas/detail/P37802" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "Label-free quantitative phosphorylation analysis of human transgelin2 in Jurkat T cells reveals distinct phosphorylation patterns under PKA and PKC activation conditions.", "journal": "Proteome science", "date": "2015", "authors": "Jang SH, Jun CD, Park ZY", "evidence": [ { "database": "iPTMnet", "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802" } ], "reference": [ { "type": "PubMed", "id": "25844069", "url": "https://glygen.org/publication/PubMed/25844069" } ] } ], "crossref": [ { "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P37802", "url": "https://oglcnac.org/atlas/detail/P37802", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1483650357", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483650357", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1483650357", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1483650357", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1448787408", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1448787408", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1448787408", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1448787408#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "25844069", "url": "https://glygen.org/publication/PubMed/25844069", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ELINALYPEGQAPVKKIQAS", "down_seq": "MAFKQMEQISQFLQAAERYG", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr84", "evidence": [ { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "P37802", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P37802" } ] } ], "snv": [ { "evidence": [ { "id": "rs1483650357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483650357" }, { "id": "rs1483650357", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1483650357" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "159919765", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T84", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1448787408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1448787408" }, { "id": "rs1448787408", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1448787408#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "1", "chr_pos": "159919766", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T84", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802" }, { "database": "PubMed", "id": "25844069", "url": "https://glygen.org/publication/PubMed/25844069" } ], "site_lbl": "Thr84" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "snv", "site_list": [ { "start_pos": "163", "end_pos": "163" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "84", "end_pos": "84" } ] } ], "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "P37802-1.83.83", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P37802-1.102.102", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P37802-1.102.102", "start_pos": 102, "end_pos": 102, "uniprot_canonical_ac": "P37802-1", "length": 199, "uniprot_id": "TAGL2_HUMAN", "protein_name": "Transgelin-2", "refseq_ac": "NP_001264152", "refseq_name": "transgelin-2 isoform b", "gene_name": "TAGLN2", "gene_names_uniprotkb": "TAGLN2; CDABP0035; KIAA0120", "gene_names_refseq": "HA1756; TAGLN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P37802", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37802", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ASTMAFKQMEQISQFLQAAE", "down_seq": "YGINTTDIFQTVDLWEGKNM", "snv": [ { "evidence": [ { "id": "P37802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37802" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "1", "chr_pos": "159919711", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R102", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "snv", "site_list": [ { "start_pos": "163", "end_pos": "163" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "84", "end_pos": "84" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P37802-1.83.83", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P37802-1.84.84", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P37802-1.106.106", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P37802-1.108.108", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P37802-1.108.108", "start_pos": 108, "end_pos": 108, "uniprot_canonical_ac": "P37802-1", "length": 199, "uniprot_id": "TAGL2_HUMAN", "protein_name": "Transgelin-2", "refseq_ac": "NP_001264152", "refseq_name": "transgelin-2 isoform b", "gene_name": "TAGLN2", "gene_names_uniprotkb": "TAGLN2; CDABP0035; KIAA0120", "gene_names_refseq": "HA1756; TAGLN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1650462743", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1650462743", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1650462743", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1650462743#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KQMEQISQFLQAAERYGINT", "down_seq": "DIFQTVDLWEGKNMACVQRT", "snv": [ { "evidence": [ { "id": "rs1650462743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1650462743" }, { "id": "rs1650462743", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1650462743#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTT->NTA).", "chr_id": "1", "chr_pos": "159919694", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T108", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "snv", "site_list": [ { "start_pos": "163", "end_pos": "163" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "84", "end_pos": "84" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "P37802-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P37802-1.106.106", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P37802-1.133.133", "start_pos": 133, "end_pos": 133, "uniprot_canonical_ac": "P37802-1", "length": 199, "uniprot_id": "TAGL2_HUMAN", "protein_name": "Transgelin-2", "refseq_ac": "NP_001264152", "refseq_name": "transgelin-2 isoform b", "gene_name": "TAGLN2", "gene_names_uniprotkb": "TAGLN2; CDABP0035; KIAA0120", "gene_names_refseq": "HA1756; TAGLN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1650445772", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1650445772", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1650445772", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1650445772#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1650445772", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1650445772", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "TVDLWEGKNMACVQRTLMNL", "down_seq": "GLAVARDDGLFSGDPNWFPK", "snv": [ { "evidence": [ { "id": "rs1650445772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1650445772" }, { "id": "rs1650445772", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1650445772#frequency_tab" }, { "id": "rs1650445772", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1650445772" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLG->NLS).", "chr_id": "1", "chr_pos": "159919335", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G133", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "snv", "site_list": [ { "start_pos": "163", "end_pos": "163" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "84", "end_pos": "84" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "P37802-1.145.145", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P37802-1.153.153", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P37802-1.153.153", "start_pos": 153, "end_pos": 153, "uniprot_canonical_ac": "P37802-1", "length": 199, "uniprot_id": "TAGL2_HUMAN", "protein_name": "Transgelin-2", "refseq_ac": "NP_001264152", "refseq_name": "transgelin-2 isoform b", "gene_name": "TAGLN2", "gene_names_uniprotkb": "TAGLN2; CDABP0035; KIAA0120", "gene_names_refseq": "HA1756; TAGLN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P37802", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37802", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GGLAVARDDGLFSGDPNWFP", "down_seq": "KSKENPRNFSDNQLQEGKNV", "snv": [ { "evidence": [ { "id": "P37802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37802" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KKS->NKS).", "chr_id": "1", "chr_pos": "159918941", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K153", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "snv", "site_list": [ { "start_pos": "163", "end_pos": "163" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "84", "end_pos": "84" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P37802-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P37802-1.145.145", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P37802-1.161.161", "categories": [ "glycosylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P37802-1.163.163", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P37802-1.58.58", "start_pos": 58, "end_pos": 58, "uniprot_canonical_ac": "P37802-1", "length": 199, "uniprot_id": "TAGL2_HUMAN", "protein_name": "Transgelin-2", "refseq_ac": "NP_001264152", "refseq_name": "transgelin-2 isoform b", "gene_name": "TAGLN2", "gene_names_uniprotkb": "TAGLN2; CDABP0035; KIAA0120", "gene_names_refseq": "HA1756; TAGLN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1650488631", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1650488631", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1650488631", "url": "https://www.ensembl.org/id/rs1650488631", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "CRKDVGRPQPGRENFQNWLK", "down_seq": "GTVLCELINALYPEGQAPVK", "snv": [ { "evidence": [ { "id": "rs1650488631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1650488631" }, { "id": "rs1650488631", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1650488631" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "1", "chr_pos": "159920338", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D58", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "snv", "site_list": [ { "start_pos": "163", "end_pos": "163" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "84", "end_pos": "84" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P37802-1.11.11", "start_pos": 11, "end_pos": 11, "uniprot_canonical_ac": "P37802-1", "length": 199, "uniprot_id": "TAGL2_HUMAN", "protein_name": "Transgelin-2", "refseq_ac": "NP_001264152", "refseq_name": "transgelin-2 isoform b", "gene_name": "TAGLN2", "gene_names_uniprotkb": "TAGLN2; CDABP0035; KIAA0120", "gene_names_refseq": "HA1756; TAGLN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" }, { "database": "iPTMnet", "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MANRGPAYGL", "down_seq": "REVQQKIEKQYDADLEQILI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802" } ], "site_lbl": "Ser11" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "snv", "site_list": [ { "start_pos": "163", "end_pos": "163" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "84", "end_pos": "84" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P37802-1.145.145", "start_pos": 145, "end_pos": 145, "uniprot_canonical_ac": "P37802-1", "length": 199, "uniprot_id": "TAGL2_HUMAN", "protein_name": "Transgelin-2", "refseq_ac": "NP_001264152", "refseq_name": "transgelin-2 isoform b", "gene_name": "TAGLN2", "gene_names_uniprotkb": "TAGLN2; CDABP0035; KIAA0120", "gene_names_refseq": "HA1756; TAGLN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Transgelin-2 is a novel target of KRAS-ERK signaling involved in the development of pancreatic cancer.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2018", "authors": "Sun Y, Peng W, He W, Luo M, Chang G, Shen J, Zhao X, Hu Y", "evidence": [ { "database": "iPTMnet", "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802" } ], "reference": [ { "type": "PubMed", "id": "30041673", "url": "https://glygen.org/publication/PubMed/30041673" } ] } ], "crossref": [ { "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "30041673", "url": "https://glygen.org/publication/PubMed/30041673", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VQRTLMNLGGLAVARDDGLF", "down_seq": "GDPNWFPKKSKENPRNFSDN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802" }, { "database": "PubMed", "id": "30041673", "url": "https://glygen.org/publication/PubMed/30041673" } ], "site_lbl": "Ser145" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802" }, { "database": "PubMed", "id": "30041673", "url": "https://glygen.org/publication/PubMed/30041673" } ], "site_lbl": "Ser145" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "snv", "site_list": [ { "start_pos": "163", "end_pos": "163" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "84", "end_pos": "84" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P37802-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P37802-1.153.153", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P37802-1.161.161", "categories": [ "glycosylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P37802-1.163.163", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P37802-1.180.180", "start_pos": 180, "end_pos": 180, "uniprot_canonical_ac": "P37802-1", "length": 199, "uniprot_id": "TAGL2_HUMAN", "protein_name": "Transgelin-2", "refseq_ac": "NP_001264152", "refseq_name": "transgelin-2 isoform b", "gene_name": "TAGLN2", "gene_names_uniprotkb": "TAGLN2; CDABP0035; KIAA0120", "gene_names_refseq": "HA1756; TAGLN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" }, { "database": "iPTMnet", "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Hydrophilic interaction chromatography reduces the complexity of the phosphoproteome and improves global phosphopeptide isolation and detection.", "journal": "Molecular & cellular proteomics : MCP", "date": "2008", "authors": "McNulty DE, Annan RS", "evidence": [ { "database": "iPTMnet", "id": "P37802-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802-1" } ], "reference": [ { "type": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" } ] }, { "title": "Label-free quantitative phosphorylation analysis of human transgelin2 in Jurkat T cells reveals distinct phosphorylation patterns under PKA and PKC activation conditions.", "journal": "Proteome science", "date": "2015", "authors": "Jang SH, Jun CD, Park ZY", "evidence": [ { "database": "iPTMnet", "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802" } ], "reference": [ { "type": "PubMed", "id": "25844069", "url": "https://glygen.org/publication/PubMed/25844069" } ] } ], "crossref": [ { "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25844069", "url": "https://glygen.org/publication/PubMed/25844069", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RNFSDNQLQEGKNVIGLQMG", "down_seq": "NRGASQAGMTGYGMPRQIL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "25844069", "url": "https://glygen.org/publication/PubMed/25844069" } ], "site_lbl": "Thr180" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "snv", "site_list": [ { "start_pos": "163", "end_pos": "163" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "84", "end_pos": "84" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P37802-1.161.161", "categories": [ "glycosylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P37802-1.163.163", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P37802-1.185.185", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P37802-1.190.190", "categories": [ "glycosylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P37802-1.192.192", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P37802-1.192.192", "start_pos": 192, "end_pos": 192, "uniprot_canonical_ac": "P37802-1", "length": 199, "uniprot_id": "TAGL2_HUMAN", "protein_name": "Transgelin-2", "refseq_ac": "NP_001264152", "refseq_name": "transgelin-2 isoform b", "gene_name": "TAGLN2", "gene_names_uniprotkb": "TAGLN2; CDABP0035; KIAA0120", "gene_names_refseq": "HA1756; TAGLN2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37802", "url": "https://www.uniprot.org/uniprotkb/P37802" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Multiple myeloma phosphotyrosine proteomic profile associated with FGFR3 expression, ligand activation, and drug inhibition.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "St-Germain JR, Taylor P, Tong J, Jin LL, Nikolic A, Stewart II, Ewing RM, Dharsee M, Li Z, Trudel S, Moran MF", "evidence": [ { "database": "iPTMnet", "id": "P37802-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802-1" } ], "reference": [ { "type": "PubMed", "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323" } ] } ], "crossref": [ { "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "NVIGLQMGTNRGASQAGMTG", "down_seq": "GMPRQIL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P37802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37802" }, { "database": "PubMed", "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323" } ], "site_lbl": "Tyr192" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "106", "end_pos": "106" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "snv", "site_list": [ { "start_pos": "163", "end_pos": "163" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "84", "end_pos": "84" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P37802-1.180.180", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P37802-1.185.185", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P37802-1.190.190", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O43298-1.262.262", "start_pos": 262, "end_pos": 262, "uniprot_canonical_ac": "O43298-1", "length": 467, "uniprot_id": "ZBT43_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 43", "refseq_ac": "NP_001129248", "refseq_name": "zinc finger and BTB domain-containing protein 43", "gene_name": "ZBTB43", "gene_names_uniprotkb": "ZBTB43; KIAA0414; ZBTB22B; ZNF297B", "gene_names_refseq": "ZBTB22B; ZBTB43; ZNF-X; ZNF297B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43298", "url": "https://www.uniprot.org/uniprotkb/O43298" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O43298", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O43298", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "RWIHVKPERLEQACEGMDVH", "down_seq": "TYDEHQVTESINTVQTEHTV", "snv": [ { "evidence": [ { "id": "O43298", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O43298" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "126833293", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A262", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "262", "end_pos": "262" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "45", "end_pos": "45" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "423", "end_pos": "423" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "O43298-1.276.276", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O43298-1.276.276", "start_pos": 276, "end_pos": 276, "uniprot_canonical_ac": "O43298-1", "length": 467, "uniprot_id": "ZBT43_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 43", "refseq_ac": "NP_001129248", "refseq_name": "zinc finger and BTB domain-containing protein 43", "gene_name": "ZBTB43", "gene_names_uniprotkb": "ZBTB43; KIAA0414; ZBTB22B; ZNF297B", "gene_names_refseq": "ZBTB22B; ZBTB43; ZNF-X; ZNF297B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43298", "url": "https://www.uniprot.org/uniprotkb/O43298" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O43298", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O43298", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "EGMDVHATYDEHQVTESINT", "down_seq": "QTEHTVQPSGVEEDFHIGEK", "snv": [ { "evidence": [ { "id": "O43298", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O43298" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "126833335", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V276", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "262", "end_pos": "262" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "45", "end_pos": "45" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "423", "end_pos": "423" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "O43298-1.262.262", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O43298-1.45.45", "start_pos": 45, "end_pos": 45, "uniprot_canonical_ac": "O43298-1", "length": 467, "uniprot_id": "ZBT43_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 43", "refseq_ac": "NP_001129248", "refseq_name": "zinc finger and BTB domain-containing protein 43", "gene_name": "ZBTB43", "gene_names_uniprotkb": "ZBTB43; KIAA0414; ZBTB22B; ZNF297B", "gene_names_refseq": "ZBTB22B; ZBTB43; ZNF-X; ZNF297B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43298", "url": "https://www.uniprot.org/uniprotkb/O43298" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O43298", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O43298", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QQRQQGQLCDVSIVVQGHIF", "down_seq": "AHKAVLAASSPYFCDQVLLK", "snv": [ { "evidence": [ { "id": "O43298", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O43298" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "126832642", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R45", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "262", "end_pos": "262" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "45", "end_pos": "45" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "423", "end_pos": "423" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O43298-1.423.423", "start_pos": 423, "end_pos": 423, "uniprot_canonical_ac": "O43298-1", "length": 467, "uniprot_id": "ZBT43_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 43", "refseq_ac": "NP_001129248", "refseq_name": "zinc finger and BTB domain-containing protein 43", "gene_name": "ZBTB43", "gene_names_uniprotkb": "ZBTB43; KIAA0414; ZBTB22B; ZNF297B", "gene_names_refseq": "ZBTB22B; ZBTB43; ZNF-X; ZNF297B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43298", "url": "https://www.uniprot.org/uniprotkb/O43298" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O43298", "url": "https://www.uniprot.org/uniprotkb/O43298" }, { "database": "iPTMnet", "id": "O43298", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43298" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O43298", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43298" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "O43298", "url": "https://www.uniprot.org/uniprotkb/O43298", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O43298", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43298", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GVCGKKFKMKHHLVGHMKIH", "down_seq": "GIKPYECNICAKRFMWRDSF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O43298", "url": "https://www.uniprot.org/uniprotkb/O43298" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43298", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43298" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr423" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "262", "end_pos": "262" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "45", "end_pos": "45" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "423", "end_pos": "423" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96BR9-1.18.18", "start_pos": 18, "end_pos": 18, "uniprot_canonical_ac": "Q96BR9-1", "length": 441, "uniprot_id": "ZBT8A_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 8A", "refseq_ac": "NP_001035531", "refseq_name": "zinc finger and BTB domain-containing protein 8A isoform 1", "gene_name": "ZBTB8A", "gene_names_uniprotkb": "ZBTB8A; BOZF1", "gene_names_refseq": "BOZF1; ZBTB8A; ZBTB8; ZNF916A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96BR9", "url": "https://www.uniprot.org/uniprotkb/Q96BR9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96BR9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96BR9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MEISSHQSHLLQQLNEQ", "down_seq": "RQDVFCDCSILVEGKVFKAH", "snv": [ { "evidence": [ { "id": "Q96BR9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96BR9" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "32592983", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R18", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "161", "end_pos": "161" }, { "start_pos": "167", "end_pos": "167" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96BR9-1.330.330", "start_pos": 330, "end_pos": 330, "uniprot_canonical_ac": "Q96BR9-1", "length": 441, "uniprot_id": "ZBT8A_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 8A", "refseq_ac": "NP_001035531", "refseq_name": "zinc finger and BTB domain-containing protein 8A isoform 1", "gene_name": "ZBTB8A", "gene_names_uniprotkb": "ZBTB8A; BOZF1", "gene_names_refseq": "BOZF1; ZBTB8A; ZBTB8; ZNF916A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96BR9", "url": "https://www.uniprot.org/uniprotkb/Q96BR9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96BR9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96BR9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YPCQACGKRFSRLDHLSSHF", "down_seq": "TIHQACKLICRKCKRHVTDL", "snv": [ { "evidence": [ { "id": "Q96BR9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96BR9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "32595218", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R330", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "161", "end_pos": "161" }, { "start_pos": "167", "end_pos": "167" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96BR9-1.161.161", "start_pos": 161, "end_pos": 161, "uniprot_canonical_ac": "Q96BR9-1", "length": 441, "uniprot_id": "ZBT8A_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 8A", "refseq_ac": "NP_001035531", "refseq_name": "zinc finger and BTB domain-containing protein 8A isoform 1", "gene_name": "ZBTB8A", "gene_names_uniprotkb": "ZBTB8A; BOZF1", "gene_names_refseq": "BOZF1; ZBTB8A; ZBTB8; ZNF916A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96BR9", "url": "https://www.uniprot.org/uniprotkb/Q96BR9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q96BR9", "url": "https://www.uniprot.org/uniprotkb/Q96BR9" }, { "database": "iPTMnet", "id": "Q96BR9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96BR9" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] } ], "crossref": [ { "id": "Q96BR9", "url": "https://www.uniprot.org/uniprotkb/Q96BR9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96BR9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96BR9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NSNGVERSSFYSGGWQEGSS", "down_seq": "PRSHLSPEQGTGIISGKSWN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q96BR9", "url": "https://www.uniprot.org/uniprotkb/Q96BR9" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q96BR9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96BR9" } ], "site_lbl": "Ser161" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "161", "end_pos": "161" }, { "start_pos": "167", "end_pos": "167" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q96BR9-1.167.167", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96BR9-1.167.167", "start_pos": 167, "end_pos": 167, "uniprot_canonical_ac": "Q96BR9-1", "length": 441, "uniprot_id": "ZBT8A_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 8A", "refseq_ac": "NP_001035531", "refseq_name": "zinc finger and BTB domain-containing protein 8A isoform 1", "gene_name": "ZBTB8A", "gene_names_uniprotkb": "ZBTB8A; BOZF1", "gene_names_refseq": "BOZF1; ZBTB8A; ZBTB8; ZNF916A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96BR9", "url": "https://www.uniprot.org/uniprotkb/Q96BR9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q96BR9", "url": "https://www.uniprot.org/uniprotkb/Q96BR9" }, { "database": "iPTMnet", "id": "Q96BR9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96BR9" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q96BR9", "url": "https://www.uniprot.org/uniprotkb/Q96BR9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96BR9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96BR9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RSSFYSGGWQEGSSSPRSHL", "down_seq": "PEQGTGIISGKSWNKYNYHP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q96BR9", "url": "https://www.uniprot.org/uniprotkb/Q96BR9" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q96BR9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96BR9" } ], "site_lbl": "Ser167" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "330", "end_pos": "330" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "161", "end_pos": "161" }, { "start_pos": "167", "end_pos": "167" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q96BR9-1.161.161", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.139.139", "start_pos": 139, "end_pos": 139, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ATG16L1 phosphorylation is oppositely regulated by CSNK2/casein kinase 2 and PPP1/protein phosphatase 1 which determines the fate of cardiomyocytes during hypoxia/reoxygenation.", "journal": "Autophagy", "date": "2015", "authors": "Song H, Pu J, Wang L, Wu L, Xiao J, Liu Q, Chen J, Zhang M, Liu Y, Ni M, Mo J, Zheng Y, Wan D, Cai X, Cao Y, Xiao W, Ye L, Tu E, Lin Z, Wen J, Lu X, He J, Peng Y, Su J, Zhang H, Zhao Y, Lin M, Zhang Z", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "iPTMnet", "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5" } ], "reference": [ { "type": "PubMed", "id": "26083323", "url": "https://glygen.org/publication/PubMed/26083323" } ] } ], "crossref": [ { "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "26083323", "url": "https://glygen.org/publication/PubMed/26083323", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RKDREMQMNEAKIAECLQTI", "down_seq": "DLETECLDLRTKLCDLERAN", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation. Impairs interaction with ATG12-ATG5 complex.", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "26083323", "url": "https://glygen.org/publication/PubMed/26083323" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CK2", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "iPTMnet", "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5" }, { "database": "PubMed", "id": "26083323", "url": "https://glygen.org/publication/PubMed/26083323" } ], "site_lbl": "Ser139" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.17.17", "start_pos": 17, "end_pos": 17, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Insights into autophagosome maturation revealed by the structures of ATG5 with its interacting partners.", "journal": "Autophagy", "date": "2015", "authors": "Kim JH, Hong SB, Lee JK, Han S, Roh KH, Lee KE, Kim YK, Choi EJ, Song HK", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "25484072", "url": "https://glygen.org/publication/PubMed/25484072" } ] } ], "crossref": [ { "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25484072", "url": "https://glygen.org/publication/PubMed/25484072", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "MSSGLRAADFPRWKRH", "down_seq": "SEQLRRRDRLQRQAFEEIIL", "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "W", "comment": "Abolishes interaction with ATG5.", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "25484072", "url": "https://glygen.org/publication/PubMed/25484072" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q676U5-1.21.21", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q676U5-1.24.24", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q676U5-1.32.36", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q676U5-1.36.36", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.206.206", "start_pos": 206, "end_pos": 206, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "RAB33B recruits the ATG16L1 complex to the phagophore via a noncanonical RAB binding protein.", "journal": "Autophagy", "date": "2021", "authors": "Pantoom S, Konstantinidis G, Voss S, Han H, Hofnagel O, Li Z, Wu YW", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "reference": [ { "type": "PubMed", "id": "32960676", "url": "https://glygen.org/publication/PubMed/32960676" } ] } ], "crossref": [ { "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32960676", "url": "https://glygen.org/publication/PubMed/32960676", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ENQELVTRWMAEKAQEANRL", "down_seq": "AENEKDSRRRQARLQKELAE", "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Decreased binding affinity by 36-fold with RAB33B. Decreased binding affinity by 254-fold with RAB33B and colocalization to phagophore; when associated with A-209. No change in interaction with ATG5-ATG12 complex; when associated with A-209.", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "32960676", "url": "https://glygen.org/publication/PubMed/32960676" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q676U5-1.209.209", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q676U5-1.226.226", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.209.209", "start_pos": 209, "end_pos": 209, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "RAB33B recruits the ATG16L1 complex to the phagophore via a noncanonical RAB binding protein.", "journal": "Autophagy", "date": "2021", "authors": "Pantoom S, Konstantinidis G, Voss S, Han H, Hofnagel O, Li Z, Wu YW", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "reference": [ { "type": "PubMed", "id": "32960676", "url": "https://glygen.org/publication/PubMed/32960676" } ] } ], "crossref": [ { "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32960676", "url": "https://glygen.org/publication/PubMed/32960676", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ELVTRWMAEKAQEANRLNAE", "down_seq": "EKDSRRRQARLQKELAEAAK", "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Decreased binding affinity by 9-fold with RAB33B. Decreased binding affinity by 254-fold with RAB33B and colocalization to phagophore; when associated with A-206. No change in interaction with ATG5-ATG12 complex; when associated with A-209.", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "32960676", "url": "https://glygen.org/publication/PubMed/32960676" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q676U5-1.206.206", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q676U5-1.226.226", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.21.21", "start_pos": 21, "end_pos": 21, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Insights into autophagosome maturation revealed by the structures of ATG5 with its interacting partners.", "journal": "Autophagy", "date": "2015", "authors": "Kim JH, Hong SB, Lee JK, Han S, Roh KH, Lee KE, Kim YK, Choi EJ, Song HK", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "25484072", "url": "https://glygen.org/publication/PubMed/25484072" } ] } ], "crossref": [ { "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25484072", "url": "https://glygen.org/publication/PubMed/25484072", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "MSSGLRAADFPRWKRHISEQ", "down_seq": "RRRDRLQRQAFEEIILQYNK", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "W", "comment": "Abolishes interaction with ATG5.", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "25484072", "url": "https://glygen.org/publication/PubMed/25484072" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q676U5-1.17.17", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q676U5-1.24.24", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q676U5-1.32.36", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q676U5-1.36.36", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.226.226", "start_pos": 226, "end_pos": 226, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "WIPI2 links LC3 conjugation with PI3P, autophagosome formation, and pathogen clearance by recruiting Atg12-5-16L1.", "journal": "Molecular cell", "date": "2014", "authors": "Dooley HC, Razi M, Polson HE, Girardin SE, Wilson MI, Tooze SA", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "24954904", "url": "https://glygen.org/publication/PubMed/24954904" } ] } ], "crossref": [ { "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24954904", "url": "https://glygen.org/publication/PubMed/24954904", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "NAENEKDSRRRQARLQKELA", "down_seq": "AAKEPLPVEQDDDIEVIVDE", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "R", "comment": "Impairs interaction with WIPI2.", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "24954904", "url": "https://glygen.org/publication/PubMed/24954904" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q676U5-1.206.206", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q676U5-1.209.209", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q676U5-1.230.230", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.230.230", "start_pos": 230, "end_pos": 230, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "WIPI2 links LC3 conjugation with PI3P, autophagosome formation, and pathogen clearance by recruiting Atg12-5-16L1.", "journal": "Molecular cell", "date": "2014", "authors": "Dooley HC, Razi M, Polson HE, Girardin SE, Wilson MI, Tooze SA", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "24954904", "url": "https://glygen.org/publication/PubMed/24954904" } ] } ], "crossref": [ { "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24954904", "url": "https://glygen.org/publication/PubMed/24954904", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "EKDSRRRQARLQKELAEAAK", "down_seq": "PLPVEQDDDIEVIVDETSDH", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "R", "comment": "Impairs interaction with WIPI2.", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "24954904", "url": "https://glygen.org/publication/PubMed/24954904" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q676U5-1.226.226", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q676U5-1.247.247", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.24.24", "start_pos": 24, "end_pos": 24, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Insights into autophagosome maturation revealed by the structures of ATG5 with its interacting partners.", "journal": "Autophagy", "date": "2015", "authors": "Kim JH, Hong SB, Lee JK, Han S, Roh KH, Lee KE, Kim YK, Choi EJ, Song HK", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "25484072", "url": "https://glygen.org/publication/PubMed/25484072" } ] } ], "crossref": [ { "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25484072", "url": "https://glygen.org/publication/PubMed/25484072", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GLRAADFPRWKRHISEQLRR", "down_seq": "DRLQRQAFEEIILQYNKLLE", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "D", "comment": "Abolishes interaction with ATG5.", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "25484072", "url": "https://glygen.org/publication/PubMed/25484072" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q676U5-1.17.17", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q676U5-1.21.21", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q676U5-1.32.36", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q676U5-1.36.36", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.299.299", "start_pos": 299, "end_pos": 299, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A Crohn's disease variant in Atg16l1 enhances its degradation by caspase 3.", "journal": "Nature", "date": "2014", "authors": "Murthy A, Li Y, Peng I, Reichelt M, Katakam AK, Noubade R, Roose-Girma M, DeVoss J, Diehl L, Graham RR, van Lookeren Campagne M", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "reference": [ { "type": "PubMed", "id": "24553140", "url": "https://glygen.org/publication/PubMed/24553140" } ] } ], "crossref": [ { "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24553140", "url": "https://glygen.org/publication/PubMed/24553140", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ITNIFGRRSVSSFPVPQDNV", "down_seq": "THPGSGKEVRVPATALCVFD", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Prevents cleavage by activated CASP3.", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "24553140", "url": "https://glygen.org/publication/PubMed/24553140" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q676U5-1.287.287", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q676U5-1.289.289", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q676U5-1.290.290", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q676U5-1.304.304", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q676U5-1.308.310", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.308.310", "start_pos": 308, "end_pos": 310, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Distinct functions of ATG16L1 isoforms in membrane binding and LC3B lipidation in autophagy-related processes.", "journal": "Nature cell biology", "date": "2019", "authors": "Lystad AH, Carlsson SR, de la Ballina LR, Kauffman KJ, Nag S, Yoshimori T, Melia TJ, Simonsen A", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "reference": [ { "type": "PubMed", "id": "30778222", "url": "https://glygen.org/publication/PubMed/30778222" } ] } ], "crossref": [ { "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "30778222", "url": "https://glygen.org/publication/PubMed/30778222", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "VRV", "start_aa": "V", "up_seq": "VSSFPVPQDNVDTHPGSGKE", "down_seq": "PATALCVFDAHDGEVNAVQF", "mutagenesis": [ { "sequence_org": "VRV", "sequence_mut": "AAA", "comment": "In VRV mutant; abolished binding to membranes and lipidation to ATG8 family proteins.", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "30778222", "url": "https://glygen.org/publication/PubMed/30778222" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q676U5-1.289.289", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q676U5-1.290.290", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q676U5-1.299.299", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q676U5-1.304.304", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.32.36", "start_pos": 32, "end_pos": 36, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Distinct functions of ATG16L1 isoforms in membrane binding and LC3B lipidation in autophagy-related processes.", "journal": "Nature cell biology", "date": "2019", "authors": "Lystad AH, Carlsson SR, de la Ballina LR, Kauffman KJ, Nag S, Yoshimori T, Melia TJ, Simonsen A", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "reference": [ { "type": "PubMed", "id": "30778222", "url": "https://glygen.org/publication/PubMed/30778222" } ] } ], "crossref": [ { "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "30778222", "url": "https://glygen.org/publication/PubMed/30778222", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "FEEII", "start_aa": "F", "up_seq": "RWKRHISEQLRRRDRLQRQA", "down_seq": "LQYNKLLEKSDLHSVLAQKL", "mutagenesis": [ { "sequence_org": "FEEII", "sequence_mut": "AEEAA", "comment": "In FII mutant; abolished binding to membranes and lipidation to ATG8 family proteins.", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "30778222", "url": "https://glygen.org/publication/PubMed/30778222" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q676U5-1.17.17", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q676U5-1.21.21", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q676U5-1.24.24", "categories": [ "mutagenesis_flag" ] }, { "distance": 0, "direction": "upstream", "id": "Q676U5-1.36.36", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.36.36", "start_pos": 36, "end_pos": 36, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Insights into autophagosome maturation revealed by the structures of ATG5 with its interacting partners.", "journal": "Autophagy", "date": "2015", "authors": "Kim JH, Hong SB, Lee JK, Han S, Roh KH, Lee KE, Kim YK, Choi EJ, Song HK", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "25484072", "url": "https://glygen.org/publication/PubMed/25484072" } ] } ], "crossref": [ { "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25484072", "url": "https://glygen.org/publication/PubMed/25484072", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "HISEQLRRRDRLQRQAFEEI", "down_seq": "LQYNKLLEKSDLHSVLAQKL", "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "W", "comment": "Reduces interaction with ATG5.", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "25484072", "url": "https://glygen.org/publication/PubMed/25484072" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q676U5-1.17.17", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q676U5-1.21.21", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q676U5-1.24.24", "categories": [ "mutagenesis_flag" ] }, { "distance": 0, "direction": "downstream", "id": "Q676U5-1.32.36", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.467.467", "start_pos": 467, "end_pos": 467, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "The WD40 domain of ATG16L1 is required for its non-canonical role in lipidation of LC3 at single membranes.", "journal": "The EMBO journal", "date": "2018", "authors": "Fletcher K, Ulferts R, Jacquin E, Veith T, Gammoh N, Arasteh JM, Mayer U, Carding SR, Wileman T, Beale R, Florey O", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "reference": [ { "type": "PubMed", "id": "29317426", "url": "https://glygen.org/publication/PubMed/29317426" } ] }, { "title": "Distinct functions of ATG16L1 isoforms in membrane binding and LC3B lipidation in autophagy-related processes.", "journal": "Nature cell biology", "date": "2019", "authors": "Lystad AH, Carlsson SR, de la Ballina LR, Kauffman KJ, Nag S, Yoshimori T, Melia TJ, Simonsen A", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "reference": [ { "type": "PubMed", "id": "30778222", "url": "https://glygen.org/publication/PubMed/30778222" } ] } ], "crossref": [ { "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29317426", "url": "https://glygen.org/publication/PubMed/29317426", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30778222", "url": "https://glygen.org/publication/PubMed/30778222", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "FAGSSCNDIVCTEQCVMSGH", "down_seq": "DKKIRFWDIRSESIVREMEL", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Abolished non-canonical autophagy without affecting canonical autophagy.", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "29317426", "url": "https://glygen.org/publication/PubMed/29317426" }, { "database": "PubMed", "id": "30778222", "url": "https://glygen.org/publication/PubMed/30778222" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q676U5-1.472.472", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.490.490", "start_pos": 490, "end_pos": 490, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "The WD40 domain of ATG16L1 is required for its non-canonical role in lipidation of LC3 at single membranes.", "journal": "The EMBO journal", "date": "2018", "authors": "Fletcher K, Ulferts R, Jacquin E, Veith T, Gammoh N, Arasteh JM, Mayer U, Carding SR, Wileman T, Beale R, Florey O", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "reference": [ { "type": "PubMed", "id": "29317426", "url": "https://glygen.org/publication/PubMed/29317426" } ] }, { "title": "Non-canonical autophagy drives alternative ATG8 conjugation to phosphatidylserine.", "journal": "Molecular cell", "date": "2021", "authors": "Durgan J, Lystad AH, Sloan K, Carlsson SR, Wilson MI, Marcassa E, Ulferts R, Webster J, Lopez-Clavijo AF, Wakelam MJ, Beale R, Simonsen A, Oxley D, Florey O", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "reference": [ { "type": "PubMed", "id": "33909989", "url": "https://glygen.org/publication/PubMed/33909989" } ] } ], "crossref": [ { "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29317426", "url": "https://glygen.org/publication/PubMed/29317426", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33909989", "url": "https://glygen.org/publication/PubMed/33909989", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KIRFWDIRSESIVREMELLG", "down_seq": "ITALDLNPERTELLSCSRDD", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Abolished non-canonical autophagy without affecting canonical autophagy. Impaired conjugation of phosphatidylserine (PS) to LC3 proteins.", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "29317426", "url": "https://glygen.org/publication/PubMed/29317426" }, { "database": "PubMed", "id": "33909989", "url": "https://glygen.org/publication/PubMed/33909989" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q676U5-1.472.472", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.540.540", "start_pos": 540, "end_pos": 540, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ATG16L1 phosphorylation is oppositely regulated by CSNK2/casein kinase 2 and PPP1/protein phosphatase 1 which determines the fate of cardiomyocytes during hypoxia/reoxygenation.", "journal": "Autophagy", "date": "2015", "authors": "Song H, Pu J, Wang L, Wu L, Xiao J, Liu Q, Chen J, Zhang M, Liu Y, Ni M, Mo J, Zheng Y, Wan D, Cai X, Cao Y, Xiao W, Ye L, Tu E, Lin Z, Wen J, Lu X, He J, Peng Y, Su J, Zhang H, Zhao Y, Lin M, Zhang Z", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "iPTMnet", "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5" } ], "reference": [ { "type": "PubMed", "id": "26083323", "url": "https://glygen.org/publication/PubMed/26083323" } ] } ], "crossref": [ { "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "26083323", "url": "https://glygen.org/publication/PubMed/26083323", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "NAIKQTFSAPGFKCGSDWTR", "down_seq": "VFSPDGSYVAAGSAEGSLYI", "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Impairs interaction with PPP1CA; when associated with A-542.", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "26083323", "url": "https://glygen.org/publication/PubMed/26083323" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q676U5-1.542.542", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.542.542", "start_pos": 542, "end_pos": 542, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ATG16L1 phosphorylation is oppositely regulated by CSNK2/casein kinase 2 and PPP1/protein phosphatase 1 which determines the fate of cardiomyocytes during hypoxia/reoxygenation.", "journal": "Autophagy", "date": "2015", "authors": "Song H, Pu J, Wang L, Wu L, Xiao J, Liu Q, Chen J, Zhang M, Liu Y, Ni M, Mo J, Zheng Y, Wan D, Cai X, Cao Y, Xiao W, Ye L, Tu E, Lin Z, Wen J, Lu X, He J, Peng Y, Su J, Zhang H, Zhao Y, Lin M, Zhang Z", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "iPTMnet", "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5" } ], "reference": [ { "type": "PubMed", "id": "26083323", "url": "https://glygen.org/publication/PubMed/26083323" } ] } ], "crossref": [ { "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "26083323", "url": "https://glygen.org/publication/PubMed/26083323", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "IKQTFSAPGFKCGSDWTRVV", "down_seq": "SPDGSYVAAGSAEGSLYIWS", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Impairs interaction with PPP1CA; when associated with A-540.", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "26083323", "url": "https://glygen.org/publication/PubMed/26083323" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q676U5-1.540.540", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.344.344", "start_pos": 344, "end_pos": 344, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q676U5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q676U5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EVNAVQFSPGSRLLATGGMD", "down_seq": "RVKLWEVFGEKCEFKGSLSG", "snv": [ { "evidence": [ { "id": "Q676U5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q676U5" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "233277644", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R344", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q676U5-1.422.422", "start_pos": 422, "end_pos": 422, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q676U5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q676U5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "HTLTGHSGKVLSAKFLLDNA", "down_seq": "IVSGSHDRTLKLWDLRSKVC", "snv": [ { "evidence": [ { "id": "Q676U5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q676U5" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "233289915", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R422", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q676U5-1.472.472", "start_pos": 472, "end_pos": 472, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q676U5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q676U5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CNDIVCTEQCVMSGHFDKKI", "down_seq": "FWDIRSESIVREMELLGKIT", "snv": [ { "evidence": [ { "id": "Q676U5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q676U5" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "5", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "233290337", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R472", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q676U5-1.467.467", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q676U5-1.490.490", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q676U5-1.582.582", "start_pos": 582, "end_pos": 582, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q676U5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q676U5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SVLTGKVEKVLSKQHSSSIN", "down_seq": "VAWSPSGSHVVSVDKGCKAV", "snv": [ { "evidence": [ { "id": "Q676U5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q676U5" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "233294271", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A582", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q676U5-1.247.247", "start_pos": 247, "end_pos": 247, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "iPTMnet", "id": "Q676U5-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "AAKEPLPVEQDDDIEVIVDE", "down_seq": "SDHTEETSPVRAISRAATKR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Thr247" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q676U5-1.230.230", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q676U5-1.254.254", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.254.254", "start_pos": 254, "end_pos": 254, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "iPTMnet", "id": "Q676U5-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VEQDDDIEVIVDETSDHTEE", "down_seq": "SPVRAISRAATKRLSQPAGG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Thr254" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q676U5-1.247.247", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q676U5-1.269.269", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.269.269", "start_pos": 269, "end_pos": 269, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "iPTMnet", "id": "Q676U5-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Profiling of UV-induced ATM/ATR signaling pathways.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Stokes MP, Rush J, Macneill J, Ren JM, Sprott K, Nardone J, Yang V, Beausoleil SA, Gygi SP, Livingstone M, Zhang H, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q676U5-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5-1" } ], "reference": [ { "type": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ] } ], "crossref": [ { "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DHTEETSPVRAISRAATKRL", "down_seq": "QPAGGLLDSITNIFGRRSVS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5" }, { "database": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ], "site_lbl": "Ser269" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q676U5-1.254.254", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q676U5-1.278.278", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q676U5-1.287.287", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q676U5-1.289.289", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.278.278", "start_pos": 278, "end_pos": 278, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "VEGF Triggers Transient Induction of Autophagy in Endothelial Cells via AMPK\u03b11.", "journal": "Cells", "date": "2020-03-11", "authors": "Spengler Katrin, Kryeziu Nderim, Gro\u00dfe Silke, Mosig Alexander S, Heller Regine", "evidence": [ { "database": "iPTMnet", "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5" } ], "reference": [ { "type": "PubMed", "id": "32168879", "url": "https://glygen.org/publication/PubMed/32168879" } ] } ], "crossref": [ { "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "32168879", "url": "https://glygen.org/publication/PubMed/32168879", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RAISRAATKRLSQPAGGLLD", "down_seq": "ITNIFGRRSVSSFPVPQDNV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5" }, { "database": "PubMed", "id": "32168879", "url": "https://glygen.org/publication/PubMed/32168879" } ], "site_lbl": "Ser278" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q676U5-1.269.269", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q676U5-1.287.287", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q676U5-1.289.289", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q676U5-1.290.290", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.287.287", "start_pos": 287, "end_pos": 287, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "iPTMnet", "id": "Q676U5-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "iPTMnet", "id": "Q676U5-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "iPTMnet", "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "iPTMnet", "id": "Q676U5-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5-1" } ], "reference": [ { "type": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q676U5-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RLSQPAGGLLDSITNIFGRR", "down_seq": "VSSFPVPQDNVDTHPGSGKE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser287" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q676U5-1.269.269", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q676U5-1.278.278", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q676U5-1.289.289", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q676U5-1.290.290", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q676U5-1.299.299", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q676U5-1.304.304", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.289.289", "start_pos": 289, "end_pos": 289, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "iPTMnet", "id": "Q676U5-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "iPTMnet", "id": "Q676U5-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SQPAGGLLDSITNIFGRRSV", "down_seq": "SFPVPQDNVDTHPGSGKEVR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser289" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q676U5-1.269.269", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q676U5-1.278.278", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q676U5-1.287.287", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q676U5-1.290.290", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q676U5-1.299.299", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q676U5-1.304.304", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q676U5-1.308.310", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.290.290", "start_pos": 290, "end_pos": 290, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "iPTMnet", "id": "Q676U5-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5-1" } ], "reference": [ { "type": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "iPTMnet", "id": "Q676U5-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "iPTMnet", "id": "Q676U5-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QPAGGLLDSITNIFGRRSVS", "down_seq": "FPVPQDNVDTHPGSGKEVRV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser290" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q676U5-1.278.278", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q676U5-1.287.287", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q676U5-1.289.289", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q676U5-1.299.299", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q676U5-1.304.304", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q676U5-1.308.310", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.304.304", "start_pos": 304, "end_pos": 304, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "iPTMnet", "id": "Q676U5-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5-1" } ], "reference": [ { "type": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "iPTMnet", "id": "Q676U5-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GRRSVSSFPVPQDNVDTHPG", "down_seq": "GKEVRVPATALCVFDAHDGE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser304" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q676U5-1.287.287", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q676U5-1.289.289", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q676U5-1.290.290", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q676U5-1.299.299", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q676U5-1.308.310", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q676U5-1.70.70", "start_pos": 70, "end_pos": 70, "uniprot_canonical_ac": "Q676U5-1", "length": 607, "uniprot_id": "A16L1_HUMAN", "protein_name": "Autophagy-related protein 16-1", "refseq_ac": "NP_001177195", "refseq_name": "autophagy-related protein 16-1 isoform 4", "gene_name": "ATG16L1", "gene_names_uniprotkb": "ATG16L1; APG16L; PRO34307", "gene_names_refseq": "APG16L; ATG16A; ATG16L1; ATG16L; IBD10; WDR30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q676U5", "url": "https://www.uniprot.org/uniprotkb/Q676U5" }, { "database": "iPTMnet", "id": "Q676U5-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SVLAQKLQAEKHDVPNRHEI", "down_seq": "PGHDGTWNDNQLQEMAQLRI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q676U5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q676U5" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser70" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "308", "end_pos": "310" }, { "start_pos": "32", "end_pos": "36" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "542", "end_pos": "542" } ] }, { "type": "snv", "site_list": [ { "start_pos": "344", "end_pos": "344" }, { "start_pos": "422", "end_pos": "422" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "582", "end_pos": "582" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q969K4-1.136.136", "start_pos": 136, "end_pos": 136, "uniprot_canonical_ac": "Q969K4-1", "length": 478, "uniprot_id": "ABTB1_HUMAN", "protein_name": "Ankyrin repeat and BTB/POZ domain-containing protein 1", "refseq_ac": "NP_115937", "refseq_name": "ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 1", "gene_name": "ABTB1", "gene_names_uniprotkb": "ABTB1; BPOZ; PP2259", "gene_names_refseq": "ABTB1; BPOZ-2; BPOZ; BTB3; BTBD21; EF1ABP; PP2259", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969K4", "url": "https://www.uniprot.org/uniprotkb/Q969K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969K4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969K4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DVVFVVHGKPFRVHRCVLGA", "down_seq": "SAYFANMLDTKWKGKSVVVL", "snv": [ { "evidence": [ { "id": "Q969K4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969K4" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "127676358", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R136", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q969K4-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q969K4-1.154.154", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q969K4-1.141.141", "start_pos": 141, "end_pos": 141, "uniprot_canonical_ac": "Q969K4-1", "length": 478, "uniprot_id": "ABTB1_HUMAN", "protein_name": "Ankyrin repeat and BTB/POZ domain-containing protein 1", "refseq_ac": "NP_115937", "refseq_name": "ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 1", "gene_name": "ABTB1", "gene_names_uniprotkb": "ABTB1; BPOZ; PP2259", "gene_names_refseq": "ABTB1; BPOZ-2; BPOZ; BTB3; BTBD21; EF1ABP; PP2259", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969K4", "url": "https://www.uniprot.org/uniprotkb/Q969K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969K4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969K4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VHGKPFRVHRCVLGARSAYF", "down_seq": "NMLDTKWKGKSVVVLRHPLI", "snv": [ { "evidence": [ { "id": "Q969K4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969K4" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "127676373", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A141", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q969K4-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q969K4-1.154.154", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q969K4-1.154.154", "start_pos": 154, "end_pos": 154, "uniprot_canonical_ac": "Q969K4-1", "length": 478, "uniprot_id": "ABTB1_HUMAN", "protein_name": "Ankyrin repeat and BTB/POZ domain-containing protein 1", "refseq_ac": "NP_115937", "refseq_name": "ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 1", "gene_name": "ABTB1", "gene_names_uniprotkb": "ABTB1; BPOZ; PP2259", "gene_names_refseq": "ABTB1; BPOZ-2; BPOZ; BTB3; BTBD21; EF1ABP; PP2259", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969K4", "url": "https://www.uniprot.org/uniprotkb/Q969K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969K4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969K4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "GARSAYFANMLDTKWKGKSV", "down_seq": "VLRHPLINPVAFGALLQYLY", "snv": [ { "evidence": [ { "id": "Q969K4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969K4" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "127676411", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V154", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q969K4-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q969K4-1.141.141", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q969K4-1.320.320", "start_pos": 320, "end_pos": 320, "uniprot_canonical_ac": "Q969K4-1", "length": 478, "uniprot_id": "ABTB1_HUMAN", "protein_name": "Ankyrin repeat and BTB/POZ domain-containing protein 1", "refseq_ac": "NP_115937", "refseq_name": "ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 1", "gene_name": "ABTB1", "gene_names_uniprotkb": "ABTB1; BPOZ; PP2259", "gene_names_refseq": "ABTB1; BPOZ-2; BPOZ; BTB3; BTBD21; EF1ABP; PP2259", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969K4", "url": "https://www.uniprot.org/uniprotkb/Q969K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969K4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969K4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "LLDDHFRESEEPATSGGPPA", "down_seq": "TLHGISPDVFTHVLYYMYSD", "snv": [ { "evidence": [ { "id": "Q969K4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969K4" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "127677772", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V320", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q969K4-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q969K4-1.340.340", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q969K4-1.333.333", "start_pos": 333, "end_pos": 333, "uniprot_canonical_ac": "Q969K4-1", "length": 478, "uniprot_id": "ABTB1_HUMAN", "protein_name": "Ankyrin repeat and BTB/POZ domain-containing protein 1", "refseq_ac": "NP_115937", "refseq_name": "ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 1", "gene_name": "ABTB1", "gene_names_uniprotkb": "ABTB1; BPOZ; PP2259", "gene_names_refseq": "ABTB1; BPOZ-2; BPOZ; BTB3; BTBD21; EF1ABP; PP2259", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969K4", "url": "https://www.uniprot.org/uniprotkb/Q969K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969K4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969K4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "TSGGPPAVTLHGISPDVFTH", "down_seq": "LYYMYSDHTELSPEAAYDVL", "snv": [ { "evidence": [ { "id": "Q969K4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969K4" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "127677811", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V333", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q969K4-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q969K4-1.340.340", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q969K4-1.340.340", "start_pos": 340, "end_pos": 340, "uniprot_canonical_ac": "Q969K4-1", "length": 478, "uniprot_id": "ABTB1_HUMAN", "protein_name": "Ankyrin repeat and BTB/POZ domain-containing protein 1", "refseq_ac": "NP_115937", "refseq_name": "ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 1", "gene_name": "ABTB1", "gene_names_uniprotkb": "ABTB1; BPOZ; PP2259", "gene_names_refseq": "ABTB1; BPOZ-2; BPOZ; BTB3; BTBD21; EF1ABP; PP2259", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969K4", "url": "https://www.uniprot.org/uniprotkb/Q969K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969K4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969K4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VTLHGISPDVFTHVLYYMYS", "down_seq": "HTELSPEAAYDVLSVADMYL", "snv": [ { "evidence": [ { "id": "Q969K4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969K4" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "127677832", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D340", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q969K4-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q969K4-1.333.333", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q969K4-1.87.87", "start_pos": 87, "end_pos": 87, "uniprot_canonical_ac": "Q969K4-1", "length": 478, "uniprot_id": "ABTB1_HUMAN", "protein_name": "Ankyrin repeat and BTB/POZ domain-containing protein 1", "refseq_ac": "NP_115937", "refseq_name": "ankyrin repeat and BTB/POZ domain-containing protein 1 isoform 1", "gene_name": "ABTB1", "gene_names_uniprotkb": "ABTB1; BPOZ; PP2259", "gene_names_refseq": "ABTB1; BPOZ-2; BPOZ; BTB3; BTBD21; EF1ABP; PP2259", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969K4", "url": "https://www.uniprot.org/uniprotkb/Q969K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969K4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969K4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "FDGERCLYGALSDPIRRALR", "down_seq": "YKQVTASCRRRDYYDDFLQR", "snv": [ { "evidence": [ { "id": "Q969K4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969K4" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "127676053", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D87", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "87", "end_pos": "87" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15067-1.20.20", "start_pos": 20, "end_pos": 20, "uniprot_canonical_ac": "Q15067-1", "length": 660, "uniprot_id": "ACOX1_HUMAN", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "refseq_ac": "NP_001171968", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c", "gene_name": "ACOX1", "gene_names_uniprotkb": "ACOX1; ACOX", "gene_names_refseq": "ACOX1; ACOX; AOX; MITCH; PALMCOX; SCOX", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q15067", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15067" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q15067", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15067" }, { "database": "O-GlcNAc Atlas", "id": "Q15067", "url": "https://oglcnac.org/atlas/detail/Q15067" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q15067", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15067" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] } ], "crossref": [ { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15067", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15067", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15067", "url": "https://oglcnac.org/atlas/detail/Q15067", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs777125514", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777125514", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs777125514", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777125514", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs777125514", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777125514", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "", "down_seq": "HILDGSPEKTRRRREIENMI", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr20", "evidence": [ { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "Q15067", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15067" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "Q15067", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q15067" } ] } ], "snv": [ { "evidence": [ { "id": "rs777125514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777125514" }, { "id": "rs777125514", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777125514" }, { "id": "rs777125514", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777125514" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "17", "chr_pos": "75979015", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T20", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "20", "end_pos": "20" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "649", "end_pos": "649" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q15067-1.26.26", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15067-1.270.270", "start_pos": 270, "end_pos": 270, "uniprot_canonical_ac": "Q15067-1", "length": 660, "uniprot_id": "ACOX1_HUMAN", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "refseq_ac": "NP_001171968", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c", "gene_name": "ACOX1", "gene_names_uniprotkb": "ACOX1; ACOX", "gene_names_refseq": "ACOX1; ACOX; AOX; MITCH; PALMCOX; SCOX", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "OGA mutant aberrantly hydrolyzes O-GlcNAc modification from PDLIM7 to modulate p53 and cytoskeleton in promoting cancer cell malignancy.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-06-11", "authors": "Hu Chia-Wei, Wang Ao, Fan Dacheng, Worth Matthew, Chen Zhengwei, Huang Junfeng, Xie Jinshan, Macdonald John, Li Lingjun, Jiang Jiaoyang", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q15067", "url": "https://oglcnac.org/atlas/detail/Q15067" } ], "reference": [ { "type": "PubMed", "id": "38838015", "url": "https://glygen.org/publication/PubMed/38838015" } ] } ], "crossref": [ { "id": "38838015", "url": "https://glygen.org/publication/PubMed/38838015", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15067", "url": "https://oglcnac.org/atlas/detail/Q15067", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q15067", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs562126644", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562126644", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs562126644", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs562126644", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs562126644", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562126644", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs562126644", "url": "https://www.ncbi.nlm.nih.gov/snp/rs562126644#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs562126644", "url": "http://gnomad.broadinstitute.org/awesome?query=rs562126644", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ENMLMKYAQVKPDGTYVKPL", "down_seq": "NKLTYGTMVFVRSFLVGEAA", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser270", "evidence": [ { "id": "38838015", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38838015" }, { "id": "Q15067", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q15067" } ] } ], "snv": [ { "evidence": [ { "id": "Q15067", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->I).", "chr_id": "17", "chr_pos": "75953586", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S270", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs562126644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562126644" }, { "id": "rs562126644", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs562126644" }, { "id": "rs562126644", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562126644" }, { "id": "rs562126644", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs562126644#frequency_tab" }, { "id": "rs562126644", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs562126644" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->N).", "chr_id": "17", "chr_pos": "75953586", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S270", "disease": [ { "disease_id": "DOID:0050797", "recommended_name": { "id": "DOID:0050797", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050797", "name": "peroxisomal acyl-CoA oxidase deficiency", "description": "A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1." }, "synonyms": [ { "id": "DOID:0050797", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050797", "name": "Peroxisomal acyl-coenzyme A oxidase", "description": "" }, { "id": "MONDO:0009919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009919", "name": "peroxisomal acyl-CoA oxidase deficiency", "description": "Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." }, { "id": "MONDO:0009919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009919", "name": "ACOX1 deficiency", "description": "" }, { "id": "MONDO:0009919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009919", "name": "Pseudoadrenoleukodystrophy", "description": "" }, { "id": "MONDO:0009919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009919", "name": "peroxisomal acyl-CoA oxidase deficiency", "description": "" }, { "id": "MONDO:0009919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009919", "name": "pseudo-NALD", "description": "" }, { "id": "MONDO:0009919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009919", "name": "pseudo-neonatal adrenoleukodystrophy", "description": "" }, { "id": "MIM:264470", "resource": "MIM", "url": "https://www.omim.org/entry/264470", "name": "Adrenoleukodystrophy, pseudoneonatal", "description": "Adrenoleukodystrophy, pseudoneonatal" } ], "unlinked_id_list": [], "evidence": [ { "id": "264470", "database": "MIM", "url": "https://www.omim.org/entry/264470" }, { "id": "0050797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050797" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "20", "end_pos": "20" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "649", "end_pos": "649" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q15067-1.274.274", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15067-1.274.274", "start_pos": 274, "end_pos": 274, "uniprot_canonical_ac": "Q15067-1", "length": 660, "uniprot_id": "ACOX1_HUMAN", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "refseq_ac": "NP_001171968", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c", "gene_name": "ACOX1", "gene_names_uniprotkb": "ACOX1; ACOX", "gene_names_refseq": "ACOX1; ACOX; AOX; MITCH; PALMCOX; SCOX", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "OGA mutant aberrantly hydrolyzes O-GlcNAc modification from PDLIM7 to modulate p53 and cytoskeleton in promoting cancer cell malignancy.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-06-11", "authors": "Hu Chia-Wei, Wang Ao, Fan Dacheng, Worth Matthew, Chen Zhengwei, Huang Junfeng, Xie Jinshan, Macdonald John, Li Lingjun, Jiang Jiaoyang", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q15067", "url": "https://oglcnac.org/atlas/detail/Q15067" } ], "reference": [ { "type": "PubMed", "id": "38838015", "url": "https://glygen.org/publication/PubMed/38838015" } ] } ], "crossref": [ { "id": "38838015", "url": "https://glygen.org/publication/PubMed/38838015", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15067", "url": "https://oglcnac.org/atlas/detail/Q15067", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs771520801", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771520801", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771520801", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771520801", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771520801", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771520801", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MKYAQVKPDGTYVKPLSNKL", "down_seq": "YGTMVFVRSFLVGEAARALS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr274", "evidence": [ { "id": "38838015", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38838015" }, { "id": "Q15067", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q15067" } ] } ], "snv": [ { "evidence": [ { "id": "rs771520801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771520801" }, { "id": "rs771520801", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771520801" }, { "id": "rs771520801", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771520801" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "17", "chr_pos": "75953574", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T274", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "20", "end_pos": "20" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "649", "end_pos": "649" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q15067-1.270.270", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15067-1.168.168", "start_pos": 168, "end_pos": 168, "uniprot_canonical_ac": "Q15067-1", "length": 660, "uniprot_id": "ACOX1_HUMAN", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "refseq_ac": "NP_001171968", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c", "gene_name": "ACOX1", "gene_names_uniprotkb": "ACOX1; ACOX", "gene_names_refseq": "ACOX1; ACOX; AOX; MITCH; PALMCOX; SCOX", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15067", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "RGLETTATYDPETQEFILNS", "down_seq": "TVTSIKWWPGGLGKTSNHAI", "snv": [ { "evidence": [ { "id": "Q15067", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "17", "chr_pos": "75957495", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P168", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "20", "end_pos": "20" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "649", "end_pos": "649" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q15067-1.187.187", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15067-1.187.187", "start_pos": 187, "end_pos": 187, "uniprot_canonical_ac": "Q15067-1", "length": 660, "uniprot_id": "ACOX1_HUMAN", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "refseq_ac": "NP_001171968", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c", "gene_name": "ACOX1", "gene_names_uniprotkb": "ACOX1; ACOX", "gene_names_refseq": "ACOX1; ACOX; AOX; MITCH; PALMCOX; SCOX", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15067", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SPTVTSIKWWPGGLGKTSNH", "down_seq": "IVLAQLITKGKCYGLHAFIV", "snv": [ { "evidence": [ { "id": "Q15067", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NHA->NHS).", "chr_id": "17", "chr_pos": "75955927", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A187", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "20", "end_pos": "20" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "649", "end_pos": "649" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q15067-1.168.168", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15067-1.246.246", "start_pos": 246, "end_pos": 246, "uniprot_canonical_ac": "Q15067-1", "length": 660, "uniprot_id": "ACOX1_HUMAN", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "refseq_ac": "NP_001171968", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c", "gene_name": "ACOX1", "gene_names_uniprotkb": "ACOX1; ACOX", "gene_names_refseq": "ACOX1; ACOX; AOX; MITCH; PALMCOX; SCOX", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15067", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs767721951", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767721951", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767721951", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767721951", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767721951", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767721951#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs767721951", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767721951", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs767721951", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs767721951", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IGPKFGYDEIDNGYLKMDNH", "down_seq": "IPRENMLMKYAQVKPDGTYV", "snv": [ { "evidence": [ { "id": "Q15067", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067" }, { "id": "rs767721951", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767721951" }, { "id": "rs767721951", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767721951" }, { "id": "rs767721951", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767721951#frequency_tab" }, { "id": "rs767721951", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767721951" }, { "id": "rs767721951", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs767721951" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NHR->NHC).", "chr_id": "17", "chr_pos": "75955604", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R246", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "20", "end_pos": "20" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "649", "end_pos": "649" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15067-1.346.346", "start_pos": 346, "end_pos": 346, "uniprot_canonical_ac": "Q15067-1", "length": 660, "uniprot_id": "ACOX1_HUMAN", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "refseq_ac": "NP_001171968", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c", "gene_name": "ACOX1", "gene_names_uniprotkb": "ACOX1; ACOX", "gene_names_refseq": "ACOX1; ACOX; AOX; MITCH; PALMCOX; SCOX", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15067", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "TQQYKLFPLLATAYAFQFVG", "down_seq": "YMKETYHRINEGIGQGDLSE", "snv": [ { "evidence": [ { "id": "Q15067", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "75951486", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A346", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "20", "end_pos": "20" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "649", "end_pos": "649" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q15067-1.358.358", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15067-1.358.358", "start_pos": 358, "end_pos": 358, "uniprot_canonical_ac": "Q15067-1", "length": 660, "uniprot_id": "ACOX1_HUMAN", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "refseq_ac": "NP_001171968", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c", "gene_name": "ACOX1", "gene_names_uniprotkb": "ACOX1; ACOX", "gene_names_refseq": "ACOX1; ACOX; AOX; MITCH; PALMCOX; SCOX", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1567874415", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567874415", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1567874415", "url": "https://www.ensembl.org/id/rs1567874415", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "AYAFQFVGAYMKETYHRINE", "down_seq": "IGQGDLSELPELHALTAGLK", "snv": [ { "evidence": [ { "id": "rs1567874415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567874415" }, { "id": "rs1567874415", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1567874415" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEG->NES).", "chr_id": "17", "chr_pos": "75951450", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G358", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "20", "end_pos": "20" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "649", "end_pos": "649" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q15067-1.346.346", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15067-1.388.388", "start_pos": 388, "end_pos": 388, "uniprot_canonical_ac": "Q15067-1", "length": 660, "uniprot_id": "ACOX1_HUMAN", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "refseq_ac": "NP_001171968", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c", "gene_name": "ACOX1", "gene_names_uniprotkb": "ACOX1; ACOX", "gene_names_refseq": "ACOX1; ACOX; AOX; MITCH; PALMCOX; SCOX", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15067", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "PELHALTAGLKAFTSWTANT", "down_seq": "IEACRMACGGHGYSHCSGLP", "snv": [ { "evidence": [ { "id": "Q15067", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NTG->NTS).", "chr_id": "17", "chr_pos": "75950910", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G388", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "20", "end_pos": "20" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "649", "end_pos": "649" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15067-1.482.482", "start_pos": 482, "end_pos": 482, "uniprot_canonical_ac": "Q15067-1", "length": 660, "uniprot_id": "ACOX1_HUMAN", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "refseq_ac": "NP_001171968", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c", "gene_name": "ACOX1", "gene_names_uniprotkb": "ACOX1; ACOX", "gene_names_refseq": "ACOX1; ACOX; AOX; MITCH; PALMCOX; SCOX", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15067", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RIQPQQVAVWPTMVDINSPE", "down_seq": "LTEAYKLRAARLVEIAAKNL", "snv": [ { "evidence": [ { "id": "Q15067", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SLT->NLT).", "chr_id": "17", "chr_pos": "75949751", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S482", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "20", "end_pos": "20" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "649", "end_pos": "649" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q15067-1.490.490", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15067-1.490.490", "start_pos": 490, "end_pos": 490, "uniprot_canonical_ac": "Q15067-1", "length": 660, "uniprot_id": "ACOX1_HUMAN", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "refseq_ac": "NP_001171968", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c", "gene_name": "ACOX1", "gene_names_uniprotkb": "ACOX1; ACOX", "gene_names_refseq": "ACOX1; ACOX; AOX; MITCH; PALMCOX; SCOX", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15067", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VWPTMVDINSPESLTEAYKL", "down_seq": "AARLVEIAAKNLQKEVIHRK", "snv": [ { "evidence": [ { "id": "Q15067", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "75949727", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R490", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "20", "end_pos": "20" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "649", "end_pos": "649" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q15067-1.482.482", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15067-1.557.557", "start_pos": 557, "end_pos": 557, "uniprot_canonical_ac": "Q15067-1", "length": 660, "uniprot_id": "ACOX1_HUMAN", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "refseq_ac": "NP_001171968", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c", "gene_name": "ACOX1", "gene_names_uniprotkb": "ACOX1; ACOX", "gene_names_refseq": "ACOX1; ACOX; AOX; MITCH; PALMCOX; SCOX", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs767004711", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767004711", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767004711", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767004711", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767004711", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767004711", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KLFSEKLLKIQDKAIQAVLR", "down_seq": "LCLLYSLYGISQNAGDFLQG", "snv": [ { "evidence": [ { "id": "rs767004711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767004711" }, { "id": "rs767004711", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767004711" }, { "id": "rs767004711", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767004711" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SLC->NLC).", "chr_id": "17", "chr_pos": "75949275", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S557", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "20", "end_pos": "20" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "649", "end_pos": "649" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15067-1.591.591", "start_pos": 591, "end_pos": 591, "uniprot_canonical_ac": "Q15067-1", "length": 660, "uniprot_id": "ACOX1_HUMAN", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "refseq_ac": "NP_001171968", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c", "gene_name": "ACOX1", "gene_names_uniprotkb": "ACOX1; ACOX", "gene_names_refseq": "ACOX1; ACOX; AOX; MITCH; PALMCOX; SCOX", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15067", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs35629489", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35629489", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs35629489", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs35629489", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs35629489", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35629489", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs35629489", "url": "https://www.ncbi.nlm.nih.gov/snp/rs35629489#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs35629489", "url": "http://gnomad.broadinstitute.org/awesome?query=rs35629489", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs35629489", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs35629489", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AGDFLQGSIMTEPQITQVNQ", "down_seq": "VKELLTLIRSDAVALVDAFD", "snv": [ { "evidence": [ { "id": "Q15067", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067" }, { "id": "rs35629489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35629489" }, { "id": "rs35629489", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs35629489" }, { "id": "rs35629489", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35629489" }, { "id": "rs35629489", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs35629489#frequency_tab" }, { "id": "rs35629489", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs35629489" }, { "id": "rs35629489", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs35629489" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NQR->NQC).", "chr_id": "17", "chr_pos": "75948415", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R591", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0050797", "recommended_name": { "id": "DOID:0050797", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050797", "name": "peroxisomal acyl-CoA oxidase deficiency", "description": "A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1." }, "synonyms": [ { "id": "DOID:0050797", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050797", "name": "Peroxisomal acyl-coenzyme A oxidase", "description": "" }, { "id": "MONDO:0009919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009919", "name": "peroxisomal acyl-CoA oxidase deficiency", "description": "Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." }, { "id": "MONDO:0009919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009919", "name": "ACOX1 deficiency", "description": "" }, { "id": "MONDO:0009919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009919", "name": "Pseudoadrenoleukodystrophy", "description": "" }, { "id": "MONDO:0009919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009919", "name": "peroxisomal acyl-CoA oxidase deficiency", "description": "" }, { "id": "MONDO:0009919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009919", "name": "pseudo-NALD", "description": "" }, { "id": "MONDO:0009919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009919", "name": "pseudo-neonatal adrenoleukodystrophy", "description": "" }, { "id": "MIM:264470", "resource": "MIM", "url": "https://www.omim.org/entry/264470", "name": "Adrenoleukodystrophy, pseudoneonatal", "description": "Adrenoleukodystrophy, pseudoneonatal" } ], "unlinked_id_list": [], "evidence": [ { "id": "264470", "database": "MIM", "url": "https://www.omim.org/entry/264470" }, { "id": "0050797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050797" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs35629489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35629489" }, { "id": "rs35629489", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs35629489" }, { "id": "rs35629489", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35629489" }, { "id": "rs35629489", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs35629489#frequency_tab" }, { "id": "rs35629489", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs35629489" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQR->NQS).", "chr_id": "17", "chr_pos": "75948415", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R591", "disease": [ { "disease_id": "DOID:0050797", "recommended_name": { "id": "DOID:0050797", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050797", "name": "peroxisomal acyl-CoA oxidase deficiency", "description": "A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1." }, "synonyms": [ { "id": "DOID:0050797", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050797", "name": "Peroxisomal acyl-coenzyme A oxidase", "description": "" }, { "id": "MONDO:0009919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009919", "name": "peroxisomal acyl-CoA oxidase deficiency", "description": "Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." }, { "id": "MONDO:0009919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009919", "name": "ACOX1 deficiency", "description": "" }, { "id": "MONDO:0009919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009919", "name": "Pseudoadrenoleukodystrophy", "description": "" }, { "id": "MONDO:0009919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009919", "name": "peroxisomal acyl-CoA oxidase deficiency", "description": "" }, { "id": "MONDO:0009919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009919", "name": "pseudo-NALD", "description": "" }, { "id": "MONDO:0009919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009919", "name": "pseudo-neonatal adrenoleukodystrophy", "description": "" }, { "id": "MIM:264470", "resource": "MIM", "url": "https://www.omim.org/entry/264470", "name": "Adrenoleukodystrophy, pseudoneonatal", "description": "Adrenoleukodystrophy, pseudoneonatal" } ], "unlinked_id_list": [], "evidence": [ { "id": "264470", "database": "MIM", "url": "https://www.omim.org/entry/264470" }, { "id": "0050797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050797" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "20", "end_pos": "20" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "649", "end_pos": "649" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15067-1.614.614", "start_pos": 614, "end_pos": 614, "uniprot_canonical_ac": "Q15067-1", "length": 660, "uniprot_id": "ACOX1_HUMAN", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "refseq_ac": "NP_001171968", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c", "gene_name": "ACOX1", "gene_names_uniprotkb": "ACOX1; ACOX", "gene_names_refseq": "ACOX1; ACOX; AOX; MITCH; PALMCOX; SCOX", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs754088955", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754088955", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs754088955", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754088955", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs754088955", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754088955", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ELLTLIRSDAVALVDAFDFQ", "down_seq": "VTLGSVLGRYDGNVYENLFE", "snv": [ { "evidence": [ { "id": "rs754088955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754088955" }, { "id": "rs754088955", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754088955" }, { "id": "rs754088955", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754088955" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "17", "chr_pos": "75948346", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D614", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "20", "end_pos": "20" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "649", "end_pos": "649" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "Q15067-1.629.629", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15067-1.629.629", "start_pos": 629, "end_pos": 629, "uniprot_canonical_ac": "Q15067-1", "length": 660, "uniprot_id": "ACOX1_HUMAN", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "refseq_ac": "NP_001171968", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c", "gene_name": "ACOX1", "gene_names_uniprotkb": "ACOX1; ACOX", "gene_names_refseq": "ACOX1; ACOX; AOX; MITCH; PALMCOX; SCOX", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs149911438", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149911438", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs149911438", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149911438", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs149911438", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149911438#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs149911438", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149911438", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "AFDFQDVTLGSVLGRYDGNV", "down_seq": "ENLFEWAKNSPLNKAEVHES", "snv": [ { "evidence": [ { "id": "rs149911438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149911438" }, { "id": "rs149911438", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149911438" }, { "id": "rs149911438", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149911438#frequency_tab" }, { "id": "rs149911438", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149911438" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVY->NVC).", "chr_id": "17", "chr_pos": "75948300", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y629", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "20", "end_pos": "20" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "649", "end_pos": "649" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q15067-1.614.614", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15067-1.647.647", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q15067-1.649.649", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15067-1.647.647", "start_pos": 647, "end_pos": 647, "uniprot_canonical_ac": "Q15067-1", "length": 660, "uniprot_id": "ACOX1_HUMAN", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "refseq_ac": "NP_001171968", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c", "gene_name": "ACOX1", "gene_names_uniprotkb": "ACOX1; ACOX", "gene_names_refseq": "ACOX1; ACOX; AOX; MITCH; PALMCOX; SCOX", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15067", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "NVYENLFEWAKNSPLNKAEV", "down_seq": "ESYKHLKSLQSKL", "snv": [ { "evidence": [ { "id": "Q15067", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15067" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HES->NES).", "chr_id": "17", "chr_pos": "75946792", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H647", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "20", "end_pos": "20" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "649", "end_pos": "649" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q15067-1.629.629", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15067-1.649.649", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15067-1.26.26", "start_pos": 26, "end_pos": 26, "uniprot_canonical_ac": "Q15067-1", "length": 660, "uniprot_id": "ACOX1_HUMAN", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "refseq_ac": "NP_001171968", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c", "gene_name": "ACOX1", "gene_names_uniprotkb": "ACOX1; ACOX", "gene_names_refseq": "ACOX1; ACOX; AOX; MITCH; PALMCOX; SCOX", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" }, { "database": "iPTMnet", "id": "Q15067-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15067-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" }, { "database": "iPTMnet", "id": "Q15067", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15067" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" }, { "database": "iPTMnet", "id": "Q15067-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15067-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" }, { "database": "iPTMnet", "id": "Q15067", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15067" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q15067-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15067-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q15067-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15067-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15067", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15067", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RRERDSASFNPELLTHILDG", "down_seq": "PEKTRRRREIENMILNDPDF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q15067", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15067" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser26" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "20", "end_pos": "20" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "649", "end_pos": "649" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q15067-1.20.20", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15067-1.649.649", "start_pos": 649, "end_pos": 649, "uniprot_canonical_ac": "Q15067-1", "length": 660, "uniprot_id": "ACOX1_HUMAN", "protein_name": "Peroxisomal acyl-coenzyme A oxidase 1", "refseq_ac": "NP_001171968", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c", "gene_name": "ACOX1", "gene_names_uniprotkb": "ACOX1; ACOX", "gene_names_refseq": "ACOX1; ACOX; AOX; MITCH; PALMCOX; SCOX", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YENLFEWAKNSPLNKAEVHE", "down_seq": "YKHLKSLQSKL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15067", "url": "https://www.uniprot.org/uniprotkb/Q15067" } ], "site_lbl": "Ser649" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "20", "end_pos": "20" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" } ] }, { "type": "snv", "site_list": [ { "start_pos": "168", "end_pos": "168" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "482", "end_pos": "482" }, { "start_pos": "490", "end_pos": "490" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "591", "end_pos": "591" }, { "start_pos": "614", "end_pos": "614" }, { "start_pos": "629", "end_pos": "629" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "26", "end_pos": "26" }, { "start_pos": "649", "end_pos": "649" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q15067-1.629.629", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15067-1.647.647", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.126.126", "start_pos": 126, "end_pos": 126, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Regulation of Akt signaling by O-GlcNAc in euglycemia.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2008", "authors": "Soesanto YA, Luo B, Jones D, Taylor R, Gabrielsen JS, Parker G, McClain DA", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "18728220", "url": "https://glygen.org/publication/PubMed/18728220" } ] }, { "title": "Fluorescent Detection of O-GlcNAc via Tandem Glycan Labeling.", "journal": "Bioconjugate chemistry", "date": "2020", "authors": "Wu ZL, Luo A, Grill A, Lao T, Zou Y, Chen Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "32830957", "url": "https://glygen.org/publication/PubMed/32830957" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates Akt signaling.", "journal": "PloS one", "date": "2012", "authors": "Wang S, Huang X, Sun D, Xin X, Pan Q, Peng S, Liang Z, Luo C, Yang Y, Jiang H, Huang M, Chai W, Ding J, Geng M", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749#ptm_processing" }, { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "O-GlcNAc Atlas", "id": "P31749", "url": "https://oglcnac.org/atlas/detail/P31749" }, { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392" } ] }, { "title": "O-GlcNAcylation modulates HBV replication through regulating cellular autophagy at multiple levels.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2020", "authors": "Wang X, Lin Y, Liu S, Zhu Y, Lu K, Broering R, Lu M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "32892442", "url": "https://glygen.org/publication/PubMed/32892442" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "O-GlcNAcylation regulates ischemia-induced neuronal apoptosis through AKT signaling.", "journal": "Scientific reports", "date": "2015", "authors": "Shi J, Gu JH, Dai CL, Gu J, Jin X, Sun J, Iqbal K, Liu F, Gong CX", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "O-GlcNAc Atlas", "id": "P31749", "url": "https://oglcnac.org/atlas/detail/P31749" } ], "reference": [ { "type": "PubMed", "id": "26412745", "url": "https://glygen.org/publication/PubMed/26412745" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "title": "Akt1 is dynamically modified with O-GlcNAc following treatments with PUGNAc and insulin-like growth factor-1.", "journal": "FEBS letters", "date": "2006", "authors": "Gandy JC, Rountree AE, Bijur GN", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "16684529", "url": "https://glygen.org/publication/PubMed/16684529" } ] }, { "title": "Detecting and Imaging O-GlcNAc Sites Using Glycosyltransferases: A Systematic Approach to Study O-GlcNAc.", "journal": "Cell chemical biology", "date": "2018", "authors": "Wu ZL, Tatge TJ, Grill AE, Zou Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "30100348", "url": "https://glygen.org/publication/PubMed/30100348" } ] }, { "title": "O-GlcNAcylation of kinases.", "journal": "Biochemical and biophysical research communications", "date": "2012", "authors": "Dias WB, Cheung WD, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "22564745", "url": "https://glygen.org/publication/PubMed/22564745" } ] }, { "title": "Aberrant O-GlcNAcylation characterizes chronic lymphocytic leukemia.", "journal": "Leukemia", "date": "2010", "authors": "Shi Y, Tomic J, Wen F, Shaha S, Bahlo A, Harrison R, Dennis JW, Williams R, Gross BJ, Walker S, Zuccolo J, Deans JP, Hart GW, Spaner DE", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "20668475", "url": "https://glygen.org/publication/PubMed/20668475" } ] }, { "title": "O-GlcNAc elevation through activation of the hexosamine biosynthetic pathway enhances cancer cell chemoresistance.", "journal": "Cell death & disease", "date": "2018", "authors": "Liu Y, Cao Y, Pan X, Shi M, Wu Q, Huang T, Jiang H, Li W, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29706631", "url": "https://glygen.org/publication/PubMed/29706631" } ] }, { "title": "Diverse regulation of AKT and GSK-3beta by O-GlcNAcylation in various types of cells.", "journal": "FEBS letters", "date": "2012", "authors": "Shi J, Wu S, Dai CL, Li Y, Grundke-Iqbal I, Iqbal K, Liu F, Gong CX", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "22687243", "url": "https://glygen.org/publication/PubMed/22687243" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18728220", "url": "https://glygen.org/publication/PubMed/18728220", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32830957", "url": "https://glygen.org/publication/PubMed/32830957", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32892442", "url": "https://glygen.org/publication/PubMed/32892442", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26412745", "url": "https://glygen.org/publication/PubMed/26412745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16684529", "url": "https://glygen.org/publication/PubMed/16684529", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30100348", "url": "https://glygen.org/publication/PubMed/30100348", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22564745", "url": "https://glygen.org/publication/PubMed/22564745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20668475", "url": "https://glygen.org/publication/PubMed/20668475", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29706631", "url": "https://glygen.org/publication/PubMed/29706631", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22687243", "url": "https://glygen.org/publication/PubMed/22687243", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://oglcnac.org/atlas/detail/P31749", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P31749", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VADGLKKQEEEEMDFRSGSP", "down_seq": "DNSGAEEMEVSLAKPKHRVT", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser126", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "P31749", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "18728220", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18728220" }, { "id": "32830957", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32830957" }, { "id": "22629392", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22629392" }, { "id": "32892442", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32892442" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "26412745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26412745" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "16684529", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16684529" }, { "id": "30100348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30100348" }, { "id": "22564745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22564745" }, { "id": "20668475", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20668475" }, { "id": "29706631", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29706631" }, { "id": "22687243", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22687243" }, { "id": "P31749", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P31749" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine;O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser126", "evidence": [ { "id": "P31749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31749#ptm_processing" }, { "id": "22629392", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22629392" } ] } ], "snv": [ { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "9251", "subjects_positive": "3", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->N).", "chr_id": "14", "chr_pos": "104775710", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S126", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; alternate", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser126" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "P31749-1.122.122", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P31749-1.124.124", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P31749-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P31749-1.129.129", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 20 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.129.129", "start_pos": 129, "end_pos": 129, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Regulation of Akt signaling by O-GlcNAc in euglycemia.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2008", "authors": "Soesanto YA, Luo B, Jones D, Taylor R, Gabrielsen JS, Parker G, McClain DA", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "18728220", "url": "https://glygen.org/publication/PubMed/18728220" } ] }, { "title": "Fluorescent Detection of O-GlcNAc via Tandem Glycan Labeling.", "journal": "Bioconjugate chemistry", "date": "2020", "authors": "Wu ZL, Luo A, Grill A, Lao T, Zou Y, Chen Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "32830957", "url": "https://glygen.org/publication/PubMed/32830957" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates Akt signaling.", "journal": "PloS one", "date": "2012", "authors": "Wang S, Huang X, Sun D, Xin X, Pan Q, Peng S, Liang Z, Luo C, Yang Y, Jiang H, Huang M, Chai W, Ding J, Geng M", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749#ptm_processing" }, { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "O-GlcNAc Atlas", "id": "P31749", "url": "https://oglcnac.org/atlas/detail/P31749" }, { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392" } ] }, { "title": "O-GlcNAcylation modulates HBV replication through regulating cellular autophagy at multiple levels.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2020", "authors": "Wang X, Lin Y, Liu S, Zhu Y, Lu K, Broering R, Lu M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "32892442", "url": "https://glygen.org/publication/PubMed/32892442" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "O-GlcNAcylation regulates ischemia-induced neuronal apoptosis through AKT signaling.", "journal": "Scientific reports", "date": "2015", "authors": "Shi J, Gu JH, Dai CL, Gu J, Jin X, Sun J, Iqbal K, Liu F, Gong CX", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "O-GlcNAc Atlas", "id": "P31749", "url": "https://oglcnac.org/atlas/detail/P31749" } ], "reference": [ { "type": "PubMed", "id": "26412745", "url": "https://glygen.org/publication/PubMed/26412745" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "title": "Akt1 is dynamically modified with O-GlcNAc following treatments with PUGNAc and insulin-like growth factor-1.", "journal": "FEBS letters", "date": "2006", "authors": "Gandy JC, Rountree AE, Bijur GN", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "16684529", "url": "https://glygen.org/publication/PubMed/16684529" } ] }, { "title": "Detecting and Imaging O-GlcNAc Sites Using Glycosyltransferases: A Systematic Approach to Study O-GlcNAc.", "journal": "Cell chemical biology", "date": "2018", "authors": "Wu ZL, Tatge TJ, Grill AE, Zou Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "30100348", "url": "https://glygen.org/publication/PubMed/30100348" } ] }, { "title": "O-GlcNAcylation of kinases.", "journal": "Biochemical and biophysical research communications", "date": "2012", "authors": "Dias WB, Cheung WD, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "22564745", "url": "https://glygen.org/publication/PubMed/22564745" } ] }, { "title": "Aberrant O-GlcNAcylation characterizes chronic lymphocytic leukemia.", "journal": "Leukemia", "date": "2010", "authors": "Shi Y, Tomic J, Wen F, Shaha S, Bahlo A, Harrison R, Dennis JW, Williams R, Gross BJ, Walker S, Zuccolo J, Deans JP, Hart GW, Spaner DE", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "20668475", "url": "https://glygen.org/publication/PubMed/20668475" } ] }, { "title": "O-GlcNAc elevation through activation of the hexosamine biosynthetic pathway enhances cancer cell chemoresistance.", "journal": "Cell death & disease", "date": "2018", "authors": "Liu Y, Cao Y, Pan X, Shi M, Wu Q, Huang T, Jiang H, Li W, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29706631", "url": "https://glygen.org/publication/PubMed/29706631" } ] }, { "title": "Diverse regulation of AKT and GSK-3beta by O-GlcNAcylation in various types of cells.", "journal": "FEBS letters", "date": "2012", "authors": "Shi J, Wu S, Dai CL, Li Y, Grundke-Iqbal I, Iqbal K, Liu F, Gong CX", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "22687243", "url": "https://glygen.org/publication/PubMed/22687243" } ] }, { "title": "Protein kinase CK2 phosphorylates and upregulates Akt/PKB.", "journal": "Cell death and differentiation", "date": "2005", "authors": "Di Maira G, Salvi M, Arrigoni G, Marin O, Sarno S, Brustolon F, Pinna LA, Ruzzene M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15818404", "url": "https://glygen.org/publication/PubMed/15818404" } ] }, { "title": "CK2 functionally interacts with AKT/PKB to promote the beta-catenin-dependent expression of survivin and enhance cell survival.", "journal": "Molecular and cellular biochemistry", "date": "2011", "authors": "Ponce DP, Yefi R, Cabello P, Maturana JL, Niechi I, Silva E, Galindo M, Antonelli M, Marcelain K, Armisen R, Tapia JC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21735093", "url": "https://glygen.org/publication/PubMed/21735093" } ] }, { "title": "Direct identification of tyrosine 474 as a regulatory phosphorylation site for the Akt protein kinase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Conus NM, Hannan KM, Cristiano BE, Hemmings BA, Pearson RB", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "12149249", "url": "https://glygen.org/publication/PubMed/12149249" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Dephosphorylation and inactivation of Akt/PKB is counteracted by protein kinase CK2 in HEK 293T cells.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2009", "authors": "Di Maira G, Brustolon F, Pinna LA, Ruzzene M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19662498", "url": "https://glygen.org/publication/PubMed/19662498" } ] }, { "title": "Phosphorylation of AKT/PKB by CK2 is necessary for the AKT-dependent up-regulation of beta-catenin transcriptional activity.", "journal": "Journal of cellular physiology", "date": "2011", "authors": "Ponce DP, Maturana JL, Cabello P, Yefi R, Niechi I, Silva E, Armisen R, Galindo M, Antonelli M, Tapia JC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21506126", "url": "https://glygen.org/publication/PubMed/21506126" } ] }, { "title": "Activation of protein kinase CK2 attenuates FOXO3a functioning in a PML-dependent manner: implications in human prostate cancer.", "journal": "Cell death & disease", "date": "2013-03-14", "authors": "Chatterjee A, Chatterjee U, Ghosh M K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23492774", "url": "https://glygen.org/publication/PubMed/23492774" } ] }, { "title": "CK2 inhibitor CX-4945 blocks TGF-beta1-induced epithelial-to-mesenchymal transition in A549 human lung adenocarcinoma cells.", "journal": "PloS one", "date": "2013", "authors": "Kim J, Hwan Kim S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24023938", "url": "https://glygen.org/publication/PubMed/24023938" } ] }, { "title": "Differential phosphorylation of Akt1 and Akt2 by protein kinase CK2 may account for isoform specific functions.", "journal": "Biochimica et biophysica acta", "date": "2014", "authors": "Girardi C, James P, Zanin S, Pinna LA, Ruzzene M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24769357", "url": "https://glygen.org/publication/PubMed/24769357" } ] }, { "title": "Therapeutic CK2 inhibition attenuates diverse prosurvival signaling cascades and decreases cell viability in human breast cancer cells.", "journal": "Oncotarget", "date": "2014", "authors": "Gray GK, McFarland BC, Rowse AL, Gibson SA, Benveniste EN", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25153725", "url": "https://glygen.org/publication/PubMed/25153725" } ] }, { "title": "MEK inhibitor PD-0325901 overcomes resistance to CK2 inhibitor CX-4945 and exhibits anti-tumor activity in head and neck cancer.", "journal": "International journal of biological sciences", "date": "2015", "authors": "Bian Yansong, Han Jiawei, Kannabiran Vishnu, Mohan Suresh, Cheng Hui, Friedman Jay, Zhang Luo, VanWaes Carter, Chen Zhong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25798061", "url": "https://glygen.org/publication/PubMed/25798061" } ] }, { "title": "Down-Regulation of NDUFB9 Promotes Breast Cancer Cell Proliferation, Metastasis by Mediating Mitochondrial Metabolism.", "journal": "PloS one", "date": "2015", "authors": "Li LD, Sun HF, Liu XX, Gao SP, Jiang HL, Hu X, Jin W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26641458", "url": "https://glygen.org/publication/PubMed/26641458" } ] }, { "title": "Inhibition of protein kinase CK2 by CX-5011 counteracts imatinib-resistance preventing rpS6 phosphorylation in chronic myeloid leukaemia cells: new combined therapeutic strategies.", "journal": "Oncotarget", "date": "2016", "authors": "Salizzato V, Borgo C, Cesaro L, Pinna LA, Donella-Deana A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26919095", "url": "https://glygen.org/publication/PubMed/26919095" } ] }, { "title": "The importance of negative determinants as modulators of CK2 targeting. The lesson of Akt2 S131.", "journal": "PloS one", "date": "2018", "authors": "Vilardell J, Girardi C, Marin O, Cozza G, Pinna LA, Ruzzene M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29494643", "url": "https://glygen.org/publication/PubMed/29494643" } ] }, { "title": "Preclinical In Vitro and In Vivo Evidence of an Antitumor Effect of CX-4945, a Casein Kinase II Inhibitor, in Cholangiocarcinoma.", "journal": "Translational oncology", "date": "2019", "authors": "Zakharia K, Miyabe K, Wang Y, Wu D, Moser CD, Borad MJ, Roberts LR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30316146", "url": "https://glygen.org/publication/PubMed/30316146" } ] }, { "title": "CK2 inhibition with silmitasertib promotes methuosis-like cell death associated to catastrophic massive vacuolization of colorectal cancer cells.", "journal": "Cell death & disease", "date": "2019", "authors": "Silva-Pavez E, Villar P, Trigo C, Caamano E, Niechi I, Perez P, Munoz JP, Aguayo F, Burzio VA, Varas-Godoy M, Castro AF, Colombo MI, Tapia JC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30683840", "url": "https://glygen.org/publication/PubMed/30683840" } ] }, { "title": "Effects of CK2beta subunit down-regulation on Akt signalling in HK-2 renal cells.", "journal": "PloS one", "date": "2020", "authors": "Alcaraz E, Vilardell J, Borgo C, Sarro E, Plana M, Marin O, Pinna LA, Bayascas JR, Meseguer A, Salvi M, Itarte E, Ruzzene M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31910234", "url": "https://glygen.org/publication/PubMed/31910234" } ] }, { "title": "Clinical-Grade Peptide-Based Inhibition of CK2 Blocks Viability and Proliferation of T-ALL Cells and Counteracts IL-7 Stimulation and Stromal Support.", "journal": "Cancers", "date": "2020-05-27", "authors": "Perera Yasser, Mel\u00e3o Alice, Ram\u00f3n Ailyn C, V\u00e1zquez Dania, Ribeiro Daniel, Perea Silvio E, Barata Jo\u00e3o T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32471246", "url": "https://glygen.org/publication/PubMed/32471246" } ] }, { "title": "Enforced C-Src Activation Causes Compartmental Dysregulation of PI3K and PTEN Molecules in Lipid Rafts of Tongue Squamous Carcinoma Cells by Attenuating Rac1-Akt-GLUT-1-Mediated Sphingolipid Synthesis.", "journal": "International journal of molecular sciences", "date": "2020-08-13", "authors": "Wu Chien-Wei, Wang Shyang-Guang, Lee Ching-Hsiao, Chan Wen-Ling, Lin Meng-Liang, Chen Shih-Shun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32823607", "url": "https://glygen.org/publication/PubMed/32823607" } ] }, { "title": "Helicobacter pylori promotes epithelial-to-mesenchymal transition by downregulating CK2\u03b2 in gastric cancer cells.", "journal": "Biochimica et biophysica acta. Molecular basis of disease", "date": "2022-10-29", "authors": "Lee So Dam, Jeong Haengdueng, Hwang Bo Ram, Yu Byeong Min, Cho Yejin, Nam Ki Teak, Kim Hyunki, Lee Yong Chan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36404440", "url": "https://glygen.org/publication/PubMed/36404440" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18728220", "url": "https://glygen.org/publication/PubMed/18728220", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32830957", "url": "https://glygen.org/publication/PubMed/32830957", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32892442", "url": "https://glygen.org/publication/PubMed/32892442", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26412745", "url": "https://glygen.org/publication/PubMed/26412745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16684529", "url": "https://glygen.org/publication/PubMed/16684529", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30100348", "url": "https://glygen.org/publication/PubMed/30100348", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22564745", "url": "https://glygen.org/publication/PubMed/22564745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20668475", "url": "https://glygen.org/publication/PubMed/20668475", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29706631", "url": "https://glygen.org/publication/PubMed/29706631", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22687243", "url": "https://glygen.org/publication/PubMed/22687243", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://oglcnac.org/atlas/detail/P31749", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1892659463", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1892659463", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1892659463", "url": "https://www.ensembl.org/id/rs1892659463", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15818404", "url": "https://glygen.org/publication/PubMed/15818404", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21735093", "url": "https://glygen.org/publication/PubMed/21735093", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12149249", "url": "https://glygen.org/publication/PubMed/12149249", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19662498", "url": "https://glygen.org/publication/PubMed/19662498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21506126", "url": "https://glygen.org/publication/PubMed/21506126", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23492774", "url": "https://glygen.org/publication/PubMed/23492774", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24023938", "url": "https://glygen.org/publication/PubMed/24023938", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24769357", "url": "https://glygen.org/publication/PubMed/24769357", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25153725", "url": "https://glygen.org/publication/PubMed/25153725", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25798061", "url": "https://glygen.org/publication/PubMed/25798061", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26641458", "url": "https://glygen.org/publication/PubMed/26641458", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26919095", "url": "https://glygen.org/publication/PubMed/26919095", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29494643", "url": "https://glygen.org/publication/PubMed/29494643", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30316146", "url": "https://glygen.org/publication/PubMed/30316146", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30683840", "url": "https://glygen.org/publication/PubMed/30683840", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31910234", "url": "https://glygen.org/publication/PubMed/31910234", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32471246", "url": "https://glygen.org/publication/PubMed/32471246", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32823607", "url": "https://glygen.org/publication/PubMed/32823607", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36404440", "url": "https://glygen.org/publication/PubMed/36404440", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GLKKQEEEEMDFRSGSPSDN", "down_seq": "GAEEMEVSLAKPKHRVTMNE", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser129", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "P31749", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "18728220", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18728220" }, { "id": "32830957", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32830957" }, { "id": "22629392", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22629392" }, { "id": "32892442", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32892442" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "26412745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26412745" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "16684529", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16684529" }, { "id": "30100348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30100348" }, { "id": "22564745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22564745" }, { "id": "20668475", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20668475" }, { "id": "29706631", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29706631" }, { "id": "22687243", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22687243" }, { "id": "P31749", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P31749" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine;O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser129", "evidence": [ { "id": "P31749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31749#ptm_processing" }, { "id": "22629392", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22629392" } ] } ], "snv": [ { "evidence": [ { "id": "rs1892659463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1892659463" }, { "id": "rs1892659463", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1892659463" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->L).", "chr_id": "14", "chr_pos": "104775701", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S129", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P68400-1", "kinase_gene_name": "CSNK2A1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "15818404", "url": "https://glygen.org/publication/PubMed/15818404" }, { "database": "PubMed", "id": "21735093", "url": "https://glygen.org/publication/PubMed/21735093" } ], "site_lbl": "Ser129" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; alternate", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "12149249", "url": "https://glygen.org/publication/PubMed/12149249" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "PubMed", "id": "15818404", "url": "https://glygen.org/publication/PubMed/15818404" }, { "database": "PubMed", "id": "19662498", "url": "https://glygen.org/publication/PubMed/19662498" }, { "database": "PubMed", "id": "21506126", "url": "https://glygen.org/publication/PubMed/21506126" }, { "database": "PubMed", "id": "21735093", "url": "https://glygen.org/publication/PubMed/21735093" }, { "database": "PubMed", "id": "23492774", "url": "https://glygen.org/publication/PubMed/23492774" }, { "database": "PubMed", "id": "24023938", "url": "https://glygen.org/publication/PubMed/24023938" }, { "database": "PubMed", "id": "24769357", "url": "https://glygen.org/publication/PubMed/24769357" }, { "database": "PubMed", "id": "25153725", "url": "https://glygen.org/publication/PubMed/25153725" }, { "database": "PubMed", "id": "25798061", "url": "https://glygen.org/publication/PubMed/25798061" }, { "database": "PubMed", "id": "26641458", "url": "https://glygen.org/publication/PubMed/26641458" }, { "database": "PubMed", "id": "26919095", "url": "https://glygen.org/publication/PubMed/26919095" }, { "database": "PubMed", "id": "29494643", "url": "https://glygen.org/publication/PubMed/29494643" }, { "database": "PubMed", "id": "30316146", "url": "https://glygen.org/publication/PubMed/30316146" }, { "database": "PubMed", "id": "30683840", "url": "https://glygen.org/publication/PubMed/30683840" }, { "database": "PubMed", "id": "31910234", "url": "https://glygen.org/publication/PubMed/31910234" }, { "database": "PubMed", "id": "32471246", "url": "https://glygen.org/publication/PubMed/32471246" }, { "database": "PubMed", "id": "32823607", "url": "https://glygen.org/publication/PubMed/32823607" }, { "database": "PubMed", "id": "36404440", "url": "https://glygen.org/publication/PubMed/36404440" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Ser129" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "P31749-1.122.122", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P31749-1.124.124", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P31749-1.126.126", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P31749-1.127.127", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 41 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.305.305", "start_pos": 305, "end_pos": 305, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Regulation of Akt signaling by O-GlcNAc in euglycemia.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2008", "authors": "Soesanto YA, Luo B, Jones D, Taylor R, Gabrielsen JS, Parker G, McClain DA", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "18728220", "url": "https://glygen.org/publication/PubMed/18728220" } ] }, { "title": "Fluorescent Detection of O-GlcNAc via Tandem Glycan Labeling.", "journal": "Bioconjugate chemistry", "date": "2020", "authors": "Wu ZL, Luo A, Grill A, Lao T, Zou Y, Chen Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "32830957", "url": "https://glygen.org/publication/PubMed/32830957" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates Akt signaling.", "journal": "PloS one", "date": "2012", "authors": "Wang S, Huang X, Sun D, Xin X, Pan Q, Peng S, Liang Z, Luo C, Yang Y, Jiang H, Huang M, Chai W, Ding J, Geng M", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749#ptm_processing" }, { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "O-GlcNAc Atlas", "id": "P31749", "url": "https://oglcnac.org/atlas/detail/P31749" }, { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392" } ] }, { "title": "O-GlcNAcylation modulates HBV replication through regulating cellular autophagy at multiple levels.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2020", "authors": "Wang X, Lin Y, Liu S, Zhu Y, Lu K, Broering R, Lu M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "32892442", "url": "https://glygen.org/publication/PubMed/32892442" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "O-GlcNAcylation regulates ischemia-induced neuronal apoptosis through AKT signaling.", "journal": "Scientific reports", "date": "2015", "authors": "Shi J, Gu JH, Dai CL, Gu J, Jin X, Sun J, Iqbal K, Liu F, Gong CX", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "O-GlcNAc Atlas", "id": "P31749", "url": "https://oglcnac.org/atlas/detail/P31749" } ], "reference": [ { "type": "PubMed", "id": "26412745", "url": "https://glygen.org/publication/PubMed/26412745" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "title": "Akt1 is dynamically modified with O-GlcNAc following treatments with PUGNAc and insulin-like growth factor-1.", "journal": "FEBS letters", "date": "2006", "authors": "Gandy JC, Rountree AE, Bijur GN", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "16684529", "url": "https://glygen.org/publication/PubMed/16684529" } ] }, { "title": "Detecting and Imaging O-GlcNAc Sites Using Glycosyltransferases: A Systematic Approach to Study O-GlcNAc.", "journal": "Cell chemical biology", "date": "2018", "authors": "Wu ZL, Tatge TJ, Grill AE, Zou Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "30100348", "url": "https://glygen.org/publication/PubMed/30100348" } ] }, { "title": "O-GlcNAcylation of kinases.", "journal": "Biochemical and biophysical research communications", "date": "2012", "authors": "Dias WB, Cheung WD, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "22564745", "url": "https://glygen.org/publication/PubMed/22564745" } ] }, { "title": "Aberrant O-GlcNAcylation characterizes chronic lymphocytic leukemia.", "journal": "Leukemia", "date": "2010", "authors": "Shi Y, Tomic J, Wen F, Shaha S, Bahlo A, Harrison R, Dennis JW, Williams R, Gross BJ, Walker S, Zuccolo J, Deans JP, Hart GW, Spaner DE", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "20668475", "url": "https://glygen.org/publication/PubMed/20668475" } ] }, { "title": "O-GlcNAc elevation through activation of the hexosamine biosynthetic pathway enhances cancer cell chemoresistance.", "journal": "Cell death & disease", "date": "2018", "authors": "Liu Y, Cao Y, Pan X, Shi M, Wu Q, Huang T, Jiang H, Li W, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29706631", "url": "https://glygen.org/publication/PubMed/29706631" } ] }, { "title": "Diverse regulation of AKT and GSK-3beta by O-GlcNAcylation in various types of cells.", "journal": "FEBS letters", "date": "2012", "authors": "Shi J, Wu S, Dai CL, Li Y, Grundke-Iqbal I, Iqbal K, Liu F, Gong CX", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "22687243", "url": "https://glygen.org/publication/PubMed/22687243" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18728220", "url": "https://glygen.org/publication/PubMed/18728220", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32830957", "url": "https://glygen.org/publication/PubMed/32830957", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32892442", "url": "https://glygen.org/publication/PubMed/32892442", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26412745", "url": "https://glygen.org/publication/PubMed/26412745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16684529", "url": "https://glygen.org/publication/PubMed/16684529", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30100348", "url": "https://glygen.org/publication/PubMed/30100348", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22564745", "url": "https://glygen.org/publication/PubMed/22564745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20668475", "url": "https://glygen.org/publication/PubMed/20668475", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29706631", "url": "https://glygen.org/publication/PubMed/29706631", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22687243", "url": "https://glygen.org/publication/PubMed/22687243", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://oglcnac.org/atlas/detail/P31749", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DGHIKITDFGLCKEGIKDGA", "down_seq": "MKTFCGTPEYLAPEVLEDND", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr305", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "P31749", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "18728220", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18728220" }, { "id": "32830957", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32830957" }, { "id": "22629392", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22629392" }, { "id": "32892442", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32892442" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "26412745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26412745" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "16684529", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16684529" }, { "id": "30100348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30100348" }, { "id": "22564745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22564745" }, { "id": "20668475", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20668475" }, { "id": "29706631", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29706631" }, { "id": "22687243", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22687243" }, { "id": "P31749", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P31749" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GlcNAc) threonine;O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr305", "evidence": [ { "id": "P31749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31749#ptm_processing" }, { "id": "22629392", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22629392" }, { "id": "GLY_000481", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000481" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Reduces O-GlcNAc levels; Reduces O-GlcNAc levels even more; when associated with A-312.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392" } ] }, { "sequence_org": "T", "sequence_mut": "Y", "comment": "Abolishes phosphorylation at Thr-308.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392" } ], "site_lbl": "Thr305" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "glycosylation_flag", "mutagenesis_flag", "phosphorylation_flag" ], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P31749-1.291.291", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P31749-1.308.308", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P31749-1.312.312", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P31749-1.315.315", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P31749-1.323.323", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.308.308", "start_pos": 308, "end_pos": 308, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Regulation of Akt signaling by O-GlcNAc in euglycemia.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2008", "authors": "Soesanto YA, Luo B, Jones D, Taylor R, Gabrielsen JS, Parker G, McClain DA", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "18728220", "url": "https://glygen.org/publication/PubMed/18728220" } ] }, { "title": "Fluorescent Detection of O-GlcNAc via Tandem Glycan Labeling.", "journal": "Bioconjugate chemistry", "date": "2020", "authors": "Wu ZL, Luo A, Grill A, Lao T, Zou Y, Chen Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "32830957", "url": "https://glygen.org/publication/PubMed/32830957" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates Akt signaling.", "journal": "PloS one", "date": "2012", "authors": "Wang S, Huang X, Sun D, Xin X, Pan Q, Peng S, Liang Z, Luo C, Yang Y, Jiang H, Huang M, Chai W, Ding J, Geng M", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749#ptm_processing" }, { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "O-GlcNAc Atlas", "id": "P31749", "url": "https://oglcnac.org/atlas/detail/P31749" }, { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392" } ] }, { "title": "O-GlcNAcylation modulates HBV replication through regulating cellular autophagy at multiple levels.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2020", "authors": "Wang X, Lin Y, Liu S, Zhu Y, Lu K, Broering R, Lu M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "32892442", "url": "https://glygen.org/publication/PubMed/32892442" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "O-GlcNAcylation regulates ischemia-induced neuronal apoptosis through AKT signaling.", "journal": "Scientific reports", "date": "2015", "authors": "Shi J, Gu JH, Dai CL, Gu J, Jin X, Sun J, Iqbal K, Liu F, Gong CX", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "O-GlcNAc Atlas", "id": "P31749", "url": "https://oglcnac.org/atlas/detail/P31749" } ], "reference": [ { "type": "PubMed", "id": "26412745", "url": "https://glygen.org/publication/PubMed/26412745" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "title": "Akt1 is dynamically modified with O-GlcNAc following treatments with PUGNAc and insulin-like growth factor-1.", "journal": "FEBS letters", "date": "2006", "authors": "Gandy JC, Rountree AE, Bijur GN", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "16684529", "url": "https://glygen.org/publication/PubMed/16684529" } ] }, { "title": "Detecting and Imaging O-GlcNAc Sites Using Glycosyltransferases: A Systematic Approach to Study O-GlcNAc.", "journal": "Cell chemical biology", "date": "2018", "authors": "Wu ZL, Tatge TJ, Grill AE, Zou Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "30100348", "url": "https://glygen.org/publication/PubMed/30100348" } ] }, { "title": "O-GlcNAcylation of kinases.", "journal": "Biochemical and biophysical research communications", "date": "2012", "authors": "Dias WB, Cheung WD, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "22564745", "url": "https://glygen.org/publication/PubMed/22564745" } ] }, { "title": "Aberrant O-GlcNAcylation characterizes chronic lymphocytic leukemia.", "journal": "Leukemia", "date": "2010", "authors": "Shi Y, Tomic J, Wen F, Shaha S, Bahlo A, Harrison R, Dennis JW, Williams R, Gross BJ, Walker S, Zuccolo J, Deans JP, Hart GW, Spaner DE", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "20668475", "url": "https://glygen.org/publication/PubMed/20668475" } ] }, { "title": "O-GlcNAc elevation through activation of the hexosamine biosynthetic pathway enhances cancer cell chemoresistance.", "journal": "Cell death & disease", "date": "2018", "authors": "Liu Y, Cao Y, Pan X, Shi M, Wu Q, Huang T, Jiang H, Li W, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29706631", "url": "https://glygen.org/publication/PubMed/29706631" } ] }, { "title": "Diverse regulation of AKT and GSK-3beta by O-GlcNAcylation in various types of cells.", "journal": "FEBS letters", "date": "2012", "authors": "Shi J, Wu S, Dai CL, Li Y, Grundke-Iqbal I, Iqbal K, Liu F, Gong CX", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "22687243", "url": "https://glygen.org/publication/PubMed/22687243" } ] }, { "title": "PKB/Akt mediates cell-cycle progression by phosphorylation of p27(Kip1) at threonine 157 and modulation of its cellular localization.", "journal": "Nature medicine", "date": "2002", "authors": "Shin I, Yakes FM, Rojo F, Shin NY, Bakin AV, Baselga J, Arteaga CL", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "reference": [ { "type": "PubMed", "id": "12244301", "url": "https://glygen.org/publication/PubMed/12244301" } ] }, { "title": "Mechanism of activation of protein kinase B by insulin and IGF-1.", "journal": "The EMBO journal", "date": "1996", "authors": "Alessi DR, Andjelkovic M, Caudwell B, Cron P, Morrice N, Cohen P, Hemmings BA", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "8978681", "url": "https://glygen.org/publication/PubMed/8978681" } ] }, { "title": "PDK1 acquires PDK2 activity in the presence of a synthetic peptide derived from the carboxyl terminus of PRK2.", "journal": "Current biology : CB", "date": "1999", "authors": "Balendran A, Casamayor A, Deak M, Paterson A, Gaffney P, Currie R, Downes CP, Alessi DR", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "10226025", "url": "https://glygen.org/publication/PubMed/10226025" } ] }, { "title": "3-Phosphoinositide-dependent protein kinase-1 (PDK1): structural and functional homology with the Drosophila DSTPK61 kinase.", "journal": "Current biology : CB", "date": "1997", "authors": "Alessi DR, Deak M, Casamayor A, Caudwell FB, Morrice N, Norman DG, Gaffney P, Reese CB, MacDougall CN, Harbison D, Ashworth A, Bownes M", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "9368760", "url": "https://glygen.org/publication/PubMed/9368760" } ] }, { "title": "Multiple phosphoinositide 3-kinase-dependent steps in activation of protein kinase B.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Scheid MP, Marignani PA, Woodgett JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12167717", "url": "https://glygen.org/publication/PubMed/12167717" } ] }, { "title": "Phosphorylation and regulation of Akt/PKB by the rictor-mTOR complex.", "journal": "Science (New York, N.Y.)", "date": "2005", "authors": "Sarbassov DD, Guertin DA, Ali SM, Sabatini DM", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15718470", "url": "https://glygen.org/publication/PubMed/15718470" } ] }, { "title": "Characterization of a 3-phosphoinositide-dependent protein kinase which phosphorylates and activates protein kinase Balpha.", "journal": "Current biology : CB", "date": "1997", "authors": "Alessi DR, James SR, Downes CP, Holmes AB, Gaffney PR, Reese CB, Cohen P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "9094314", "url": "https://glygen.org/publication/PubMed/9094314" } ] }, { "title": "3-Phosphoinositide-dependent kinase 1 potentiates upstream lesions on the phosphatidylinositol 3-kinase pathway in breast carcinoma.", "journal": "Cancer research", "date": "2009", "authors": "Maurer M, Su T, Saal LH, Koujak S, Hopkins BD, Barkley CR, Wu J, Nandula S, Dutta B, Xie Y, Chin YR, Kim DI, Ferris JS, Gruvberger-Saal SK, Laakso M, Wang X, Memeo L, Rojtman A, Matos T, Yu JS, Cordon-Cardo C, Isola J, Terry MB, Toker A, Mills GB, Zhao JJ, Murty VV, Hibshoosh H, Parsons R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19602588", "url": "https://glygen.org/publication/PubMed/19602588" } ] }, { "title": "Physical association of PDK1 with AKT1 is sufficient for pathway activation independent of membrane localization and phosphatidylinositol 3 kinase.", "journal": "PloS one", "date": "2010", "authors": "Ding Z, Liang J, Li J, Lu Y, Ariyaratna V, Lu Z, Davies MA, Westwick JK, Mills GB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20361045", "url": "https://glygen.org/publication/PubMed/20361045" } ] }, { "title": "PDK1 selectively phosphorylates Thr(308) on Akt and contributes to human platelet functional responses.", "journal": "Thrombosis and haemostasis", "date": "2014", "authors": "Dangelmaier C, Manne BK, Liverani E, Jin J, Bray P, Kunapuli SP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24352480", "url": "https://glygen.org/publication/PubMed/24352480" } ] }, { "title": "Threonine 34 phosphorylation by phosphoinositide-dependent protein kinase 1 facilitates dissociation of Akt from the plasma membrane.", "journal": "The international journal of biochemistry & cell biology", "date": "2015", "authors": "Huang BX, Lee R, Akbar M, Kim HY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25912234", "url": "https://glygen.org/publication/PubMed/25912234" } ] }, { "title": "Insulin signaling through Akt/protein kinase B analyzed by small interfering RNA-mediated gene silencing.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Jiang ZY, Zhou QL, Coleman KA, Chouinard M, Boese Q, Czech MP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12808134", "url": "https://glygen.org/publication/PubMed/12808134" } ] }, { "title": "Regulation of skeletal muscle growth by the IGF1-Akt/PKB pathway: insights from genetic models.", "journal": "Skeletal muscle", "date": "2011", "authors": "Schiaffino S, Mammucari C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21798082", "url": "https://glygen.org/publication/PubMed/21798082" } ] }, { "title": "Thr308 determines Akt1 nuclear localization in insulin-stimulated keratinocytes.", "journal": "Biochemical and biophysical research communications", "date": "2008", "authors": "Goren I, Muller E, Pfeilschifter J, Frank S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18477468", "url": "https://glygen.org/publication/PubMed/18477468" } ] }, { "title": "Akt phosphorylates Prohibitin 1 to mediate its mitochondrial localization and promote proliferation of bladder cancer cells.", "journal": "Cell death & disease", "date": "2015", "authors": "Jiang L, Dong P, Zhang Z, Li C, Li Y, Liao Y, Li X, Wu Z, Guo S, Mai S, Xie D, Liu Z, Zhou F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25719244", "url": "https://glygen.org/publication/PubMed/25719244" } ] }, { "title": "DNA-PKcs, but not TLR9, is required for activation of Akt by CpG-DNA.", "journal": "The EMBO journal", "date": "2005", "authors": "Dragoi AM, Fu X, Ivanov S, Zhang P, Sheng L, Wu D, Li GC, Chu WM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15678105", "url": "https://glygen.org/publication/PubMed/15678105" } ] }, { "title": "ACK1 promotes gastric cancer epithelial-mesenchymal transition and metastasis through AKT-POU2F1-ECD signalling.", "journal": "The Journal of pathology", "date": "2015", "authors": "Xu SH, Huang JZ, Xu ML, Yu G, Yin XF, Chen D, Yan GR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25678401", "url": "https://glygen.org/publication/PubMed/25678401" } ] }, { "title": "IkappaB kinase epsilon and TANK-binding kinase 1 activate AKT by direct phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Xie X, Zhang D, Zhao B, Lu MK, You M, Condorelli G, Wang CY, Guan KL", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21464307", "url": "https://glygen.org/publication/PubMed/21464307" } ] }, { "title": "Inhibition of insulin-induced activation of Akt by a kinase-deficient mutant of the epsilon isozyme of protein kinase C.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Matsumoto M, Ogawa W, Hino Y, Furukawa K, Ono Y, Takahashi M, Ohba M, Kuroki T, Kasuga M", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "11278835", "url": "https://glygen.org/publication/PubMed/11278835" } ] }, { "title": "Studies on the phosphorylation of protein kinase B by Ca(2+)/calmodulin-dependent protein kinases.", "journal": "Journal of biochemistry", "date": "2000", "authors": "Okuno S, Kitani T, Matsuzaki H, Konishi H, Kikkawa U, Fujisawa H", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "10833263", "url": "https://glygen.org/publication/PubMed/10833263" } ] }, { "title": "Calcium promotes cell survival through CaM-K kinase activation of the protein-kinase-B pathway.", "journal": "Nature", "date": "1998", "authors": "Yano S, Tokumitsu H, Soderling TR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "9859994", "url": "https://glygen.org/publication/PubMed/9859994" } ] }, { "title": "Regulation of Akt/PKB activation by tyrosine phosphorylation.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Chen R, Kim O, Yang J, Sato K, Eisenmann KM, McCarthy J, Chen H, Qiu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "11445557", "url": "https://glygen.org/publication/PubMed/11445557" } ] }, { "title": "Direct identification of tyrosine 474 as a regulatory phosphorylation site for the Akt protein kinase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Conus NM, Hannan KM, Cristiano BE, Hemmings BA, Pearson RB", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "12149249", "url": "https://glygen.org/publication/PubMed/12149249" } ] }, { "title": "Eosinophil major basic protein stimulates neutrophil superoxide production by a class IA phosphoinositide 3-kinase and protein kinase C-zeta-dependent pathway.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2003", "authors": "Shenoy NG, Gleich GJ, Thomas LL", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "14500673", "url": "https://glygen.org/publication/PubMed/14500673" } ] }, { "title": "Increased proliferation and altered growth factor dependence of human mammary epithelial cells overexpressing the Gab2 docking protein.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Brummer T, Schramek D, Hayes VM, Bennett HL, Caldon CE, Musgrove EA, Daly RJ", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "16253990", "url": "https://glygen.org/publication/PubMed/16253990" } ] }, { "title": "Prolonged rapamycin treatment inhibits mTORC2 assembly and Akt/PKB.", "journal": "Molecular cell", "date": "2006", "authors": "Sarbassov DD, Ali SM, Sengupta S, Sheen JH, Hsu PP, Bagley AF, Markhard AL, Sabatini DM", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "16603397", "url": "https://glygen.org/publication/PubMed/16603397" } ] }, { "title": "Par-4 inhibits Akt and suppresses Ras-induced lung tumorigenesis.", "journal": "The EMBO journal", "date": "2008-08-20", "authors": "Joshi Jayashree, Fernandez-Marcos Pablo J, Galvez Anita, Amanchy Ramars, Linares Juan F, Duran Angeles, Pathrose Peterson, Leitges Michael, Ca\u00f1amero Marta, Collado Manuel, Salas Clara, Serrano Manuel, Moscat Jorge, Diaz-Meco Maria T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18650932", "url": "https://glygen.org/publication/PubMed/18650932" } ] }, { "title": "Growth factor pleiotropy is controlled by a receptor Tyr/Ser motif that acts as a binary switch.", "journal": "The EMBO journal", "date": "2006", "authors": "Guthridge MA, Powell JA, Barry EF, Stomski FC, McClure BJ, Ramshaw H, Felquer FA, Dottore M, Thomas DT, To B, Begley CG, Lopez AF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16437163", "url": "https://glygen.org/publication/PubMed/16437163" } ] }, { "title": "Autophosphorylation of Akt at threonine 72 and serine 246. A potential mechanism of regulation of Akt kinase activity.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Li X, Lu Y, Jin W, Liang K, Mills GB, Fan Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16549426", "url": "https://glygen.org/publication/PubMed/16549426" } ] }, { "title": "Akt/PKB localisation and 3' phosphoinositide generation at sites of epithelial cell-matrix and cell-cell interaction.", "journal": "Current biology : CB", "date": "1999-04-22", "authors": "Watton S J, Downward J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10226029", "url": "https://glygen.org/publication/PubMed/10226029" } ] }, { "title": "Mechanism of protein kinase B activation by insulin/insulin-like growth factor-1 revealed by specific inhibitors of phosphoinositide 3-kinase--significance for diabetes and cancer.", "journal": "Pharmacology & therapeutics", "date": "1999", "authors": "Galetic I, Andjelkovic M, Meier R, Brodbeck D, Park J, Hemmings B A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10454216", "url": "https://glygen.org/publication/PubMed/10454216" } ] }, { "title": "Akt/protein kinase B is regulated by autophosphorylation at the hypothetical PDK-2 site.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Toker A, Newton AC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10722653", "url": "https://glygen.org/publication/PubMed/10722653" } ] }, { "title": "Dual regulation of platelet protein kinase B.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Kroner C, Eybrechts K, Akkerman JW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10874027", "url": "https://glygen.org/publication/PubMed/10874027" } ] }, { "title": "Enhancement of sympathetic neuron survival by synergistic action of NT3 and GDNF.", "journal": "Neuroreport", "date": "2000", "authors": "Kobayashi M, Matsuoka I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10943719", "url": "https://glygen.org/publication/PubMed/10943719" } ] }, { "title": "Integrin-linked kinase (ILK): a `hot` therapeutic target.", "journal": "Biochemical pharmacology", "date": "2000", "authors": "Yoganathan TN, Costello P, Chen X, Jabali M, Yan J, Leung D, Zhang Z, Yee A, Dedhar S, Sanghera J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11007949", "url": "https://glygen.org/publication/PubMed/11007949" } ] }, { "title": "Lipoarabinomannan from Mycobacterium tuberculosis promotes macrophage survival by phosphorylating Bad through a phosphatidylinositol 3-kinase/Akt pathway.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Maiti D, Bhattacharyya A, Basu J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11020382", "url": "https://glygen.org/publication/PubMed/11020382" } ] }, { "title": "p38 Kinase-dependent MAPKAPK-2 activation functions as 3-phosphoinositide-dependent kinase-2 for Akt in human neutrophils.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Rane MJ, Coxon PY, Powell DW, Webster R, Klein JB, Pierce W, Ping P, McLeish KR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11042204", "url": "https://glygen.org/publication/PubMed/11042204" } ] }, { "title": "Ceramide induces the dephosphorylation and inhibition of constitutively activated Akt in PTEN negative U87mg cells.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Zinda MJ, Vlahos CJ, Lai MT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11162641", "url": "https://glygen.org/publication/PubMed/11162641" } ] }, { "title": "Cyclic AMP inhibits Akt activity by blocking the membrane localization of PDK1.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kim S, Jee K, Kim D, Koh H, Chung J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11278269", "url": "https://glygen.org/publication/PubMed/11278269" } ] }, { "title": "Regulation of protein kinase B/Akt-serine 473 phosphorylation by integrin-linked kinase: critical roles for kinase activity and amino acids arginine 211 and serine 343.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Persad S, Attwell S, Gray V, Mawji N, Deng JT, Leung D, Yan J, Sanghera J, Walsh MP, Dedhar S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11313365", "url": "https://glygen.org/publication/PubMed/11313365" } ] }, { "title": "Mitogen- and stress-activated protein kinase 1 mediates activation of Akt by ultraviolet B irradiation.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Nomura M, Kaji A, Ma WY, Zhong S, Liu G, Bowden GT, Miyamoto KI, Dong Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11350959", "url": "https://glygen.org/publication/PubMed/11350959" } ] }, { "title": "Akt/protein kinase B is constitutively active in non-small cell lung cancer cells and promotes cellular survival and resistance to chemotherapy and radiation.", "journal": "Cancer research", "date": "2001", "authors": "Brognard J, Clark AS, Ni Y, Dennis PA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11358816", "url": "https://glygen.org/publication/PubMed/11358816" } ] }, { "title": "Activation of the phosphatidylinositol 3-kinase-Akt/protein kinase B signaling pathway in arachidonic acid-stimulated human myeloid and endothelial cells: involvement of the ErbB receptor family.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Hii CS, Moghadammi N, Dunbar A, Ferrante A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11359783", "url": "https://glygen.org/publication/PubMed/11359783" } ] }, { "title": "Roles of Akt and glycogen synthase kinase 3beta in the ultraviolet B induction of cyclooxygenase-2 transcription in human keratinocytes.", "journal": "Cancer research", "date": "2001", "authors": "Tang Q, Gonzales M, Inoue H, Bowden GT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11389054", "url": "https://glygen.org/publication/PubMed/11389054" } ] }, { "title": "Regulation of tumor necrosis factor alpha-mediated apoptosis of rheumatoid arthritis synovial fibroblasts by the protein kinase Akt.", "journal": "Arthritis and rheumatism", "date": "2001-07", "authors": "Zhang H G, Wang Y, Xie J F, Liang X, Liu D, Yang P, Hsu H C, Ray R B, Mountz J D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11465707", "url": "https://glygen.org/publication/PubMed/11465707" } ] }, { "title": "Decorin-mediated signal transduction in endothelial cells. Involvement of Akt/protein kinase B in up-regulation of p21(WAF1/CIP1) but not p27(KIP1).", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Schonherr E, Levkau B, Schaefer L, Kresse H, Walsh K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11546775", "url": "https://glygen.org/publication/PubMed/11546775" } ] }, { "title": "A phosphatidylinositol 3-kinase docking site in the cytoplasmic tail of the Jaagsiekte sheep retrovirus transmembrane protein is essential for envelope-induced transformation of NIH 3T3 cells.", "journal": "Journal of virology", "date": "2001-11", "authors": "Palmarini M, Maeda N, Murgia C, De-Fraja C, Hofacre A, Fan H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11602740", "url": "https://glygen.org/publication/PubMed/11602740" } ] }, { "title": "Ceramide mediates insulin resistance by tumor necrosis factor-alpha in brown adipocytes by maintaining Akt in an inactive dephosphorylated state.", "journal": "Diabetes", "date": "2001", "authors": "Teruel T, Hernandez R, Lorenzo M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11679435", "url": "https://glygen.org/publication/PubMed/11679435" } ] }, { "title": "Distinct phosphorylation patterns underlie Akt activation by different survival factors in neurons.", "journal": "Brain research. Molecular brain research", "date": "2001", "authors": "Kumari S, Liu X, Nguyen T, Zhang X, D'Mello SR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11731021", "url": "https://glygen.org/publication/PubMed/11731021" } ] }, { "title": "PDK2: a complex tail in one Akt.", "journal": "Science's STKE : signal transduction knowledge environment", "date": "2001", "authors": "Chan TO, Tsichlis PN", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11752635", "url": "https://glygen.org/publication/PubMed/11752635" } ] }, { "title": "The effects of intracellular calcium depletion on insulin signaling in 3T3-L1 adipocytes.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2002-02", "authors": "Worrall Dorothy Sears, Olefsky Jerrold M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11818508", "url": "https://glygen.org/publication/PubMed/11818508" } ] }, { "title": "Protein kinase B is regulated in platelets by the collagen receptor glycoprotein VI.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Barry FA, Gibbins JM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11825911", "url": "https://glygen.org/publication/PubMed/11825911" } ] }, { "title": "Substitution of the autophosphorylation site Thr516 with a negatively charged residue confers constitutive activity to mouse 3-phosphoinositide-dependent protein kinase-1 in cells.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Wick MJ, Wick KR, Chen H, He H, Dong LQ, Quon MJ, Liu F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11877406", "url": "https://glygen.org/publication/PubMed/11877406" } ] }, { "title": "Role of ether-linked lysophosphatidic acids in ovarian cancer cells.", "journal": "Journal of lipid research", "date": "2002", "authors": "Lu J, Xiao Yj YJ, Baudhuin LM, Hong G, Xu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11893783", "url": "https://glygen.org/publication/PubMed/11893783" } ] }, { "title": "Interference with PDK1-Akt survival signaling pathway by UCN-01 (7-hydroxystaurosporine).", "journal": "Oncogene", "date": "2002", "authors": "Sato S, Fujita N, Tsuruo T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11896604", "url": "https://glygen.org/publication/PubMed/11896604" } ] }, { "title": "Celecoxib induces apoptosis by inhibiting 3-phosphoinositide-dependent protein kinase-1 activity in the human colon cancer HT-29 cell line.", "journal": "The Journal of biological chemistry", "date": "2002-08-02", "authors": "Arico Sebastien, Pattingre Sophie, Bauvy Chantal, Gane Pierre, Barbat Alain, Codogno Patrice, Ogier-Denis Eric", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12000750", "url": "https://glygen.org/publication/PubMed/12000750" } ] }, { "title": "TNF inhibited the apoptosis by activation of Akt serine/threonine kinase in the human head and neck squamous cell carcinoma.", "journal": "Cellular signalling", "date": "2002", "authors": "Sandra F, Matsuki NA, Takeuchi H, Ikebe T, Kanematsu T, Ohishi M, Hirata M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12034358", "url": "https://glygen.org/publication/PubMed/12034358" } ] }, { "title": "Insulin signalling in skeletal muscle of subjects with or without Type II-diabetes and first degree relatives of patients with the disease.", "journal": "Diabetologia", "date": "2002-06", "authors": "Meyer M M, Levin K, Grimmsmann T, Beck-Nielsen H, Klein H H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12107725", "url": "https://glygen.org/publication/PubMed/12107725" } ] }, { "title": "Identification of a plasma membrane Raft-associated PKB Ser473 kinase activity that is distinct from ILK and PDK1.", "journal": "Current biology : CB", "date": "2002", "authors": "Hill MM, Feng J, Hemmings BA", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "12176337", "url": "https://glygen.org/publication/PubMed/12176337" } ] }, { "title": "Gene expressions in Jurkat cells poisoned by a sulphur mustard vesicant and the induction of apoptosis.", "journal": "British journal of pharmacology", "date": "2002", "authors": "Zhang P, Ng P, Caridha D, Leach RA, Asher LV, Novak MJ, Smith WJ, Zeichner SL, Chiang PK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12208782", "url": "https://glygen.org/publication/PubMed/12208782" } ] }, { "title": "Membrane localization of Src homology 2-containing inositol 5'-phosphatase 2 via Shc association is required for the negative regulation of insulin signaling in Rat1 fibroblasts overexpressing insulin receptors.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2002", "authors": "Ishihara H, Sasaoka T, Ishiki M, Wada T, Hori H, Kagawa S, Kobayashi M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12351701", "url": "https://glygen.org/publication/PubMed/12351701" } ] }, { "title": "A novel form of constitutively active farnesylated Akt1 prevents mammary epithelial cells from anoikis and suppresses chemotherapy-induced apoptosis.", "journal": "British journal of cancer", "date": "2002", "authors": "Schmidt M, Hovelmann S, Beckers TL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12373610", "url": "https://glygen.org/publication/PubMed/12373610" } ] }, { "title": "Dopamine induces a PI3-kinase-independent activation of Akt in striatal neurons: a new route to cAMP response element-binding protein phosphorylation.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2002", "authors": "Brami-Cherrier K, Valjent E, Garcia M, Pages C, Hipskind RA, Caboche J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12388598", "url": "https://glygen.org/publication/PubMed/12388598" } ] }, { "title": "Hypoxic condition interferes with phosphorylation of Akt at Thr(308) in cultured rat pheochromocytoma-12 cells.", "journal": "Neuroscience letters", "date": "2002", "authors": "Obara D, Utsugisawa K, Nagane Y, Tohgi H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12399007", "url": "https://glygen.org/publication/PubMed/12399007" } ] }, { "title": "Overexpression of the Csk homologous kinase facilitates phosphorylation of Akt/PKB in MCF-7 cells.", "journal": "International journal of oncology", "date": "2002", "authors": "Zagozdzon R, Bougeret C, Fu Y, Avraham HK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12429987", "url": "https://glygen.org/publication/PubMed/12429987" } ] }, { "title": "The phosphoinositide 3-kinase/AKT1 pathway involvement in drug and all-trans-retinoic acid resistance of leukemia cells.", "journal": "Molecular cancer research : MCR", "date": "2003", "authors": "Neri LM, Borgatti P, Tazzari PL, Bortul R, Cappellini A, Tabellini G, Bellacosa A, Capitani S, Martelli AM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12556562", "url": "https://glygen.org/publication/PubMed/12556562" } ] }, { "title": "CH-ILKBP regulates cell survival by facilitating the membrane translocation of protein kinase B/Akt.", "journal": "The Journal of cell biology", "date": "2003", "authors": "Fukuda T, Guo L, Shi X, Wu C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12654898", "url": "https://glygen.org/publication/PubMed/12654898" } ] }, { "title": "Phosphoinositide-dependent kinase-2 is a distinct protein kinase enriched in a novel cytoskeletal fraction associated with adipocyte plasma membranes.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Hresko RC, Murata H, Mueckler M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12682057", "url": "https://glygen.org/publication/PubMed/12682057" } ] }, { "title": "Conditional knock-out of integrin-linked kinase demonstrates an essential role in protein kinase B/Akt activation.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Troussard AA, Mawji NM, Ong C, Mui A, St -Arnaud R, Dedhar S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12686550", "url": "https://glygen.org/publication/PubMed/12686550" } ] }, { "title": "Cooperation between insulin and leptin in the modulation of vascular tone.", "journal": "Hypertension (Dallas, Tex. : 1979)", "date": "2003", "authors": "Vecchione C, Aretini A, Maffei A, Marino G, Selvetella G, Poulet R, Trimarco V, Frati G, Lembo G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12835332", "url": "https://glygen.org/publication/PubMed/12835332" } ] }, { "title": "Regulatory role of cAMP on expression of Cdk4 and p27(Kip1) by inhibiting phosphatidylinositol 3-kinase in corneal endothelial cells.", "journal": "Investigative ophthalmology & visual science", "date": "2003", "authors": "Lee HT, Kay EP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12939297", "url": "https://glygen.org/publication/PubMed/12939297" } ] }, { "title": "PINCH-1 is an obligate partner of integrin-linked kinase (ILK) functioning in cell shape modulation, motility, and survival.", "journal": "The Journal of biological chemistry", "date": "2003-12-19", "authors": "Fukuda Tomohiko, Chen Ka, Shi Xiaohua, Wu Chuanyue", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14551191", "url": "https://glygen.org/publication/PubMed/14551191" } ] }, { "title": "Akt activation disrupts mammary acinar architecture and enhances proliferation in an mTOR-dependent manner.", "journal": "The Journal of cell biology", "date": "2003", "authors": "Debnath J, Walker SJ, Brugge JS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14568991", "url": "https://glygen.org/publication/PubMed/14568991" } ] }, { "title": "Levels of PTEN protein modulate Akt phosphorylation on serine 473, but not on threonine 308, in IGF-II-overexpressing rhabdomyosarcomas cells.", "journal": "Oncogene", "date": "2003", "authors": "Wan X, Helman LJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14603261", "url": "https://glygen.org/publication/PubMed/14603261" } ] }, { "title": "Androgen receptor mediates non-genomic activation of phosphatidylinositol 3-OH kinase in androgen-sensitive epithelial cells.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Baron S, Manin M, Beaudoin C, Leotoing L, Communal Y, Veyssiere G, Morel L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14668339", "url": "https://glygen.org/publication/PubMed/14668339" } ] }, { "title": "Activation of aPKC is required for vanadate-induced phosphorylation of protein kinase B (Akt), but not p70S6k in mouse epidermal JB6 cells.", "journal": "Molecular and cellular biochemistry", "date": "2004", "authors": "Li J, Dokka S, Wang L, Shi X, Castranova V, Yan Y, Costa M, Huang C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14971662", "url": "https://glygen.org/publication/PubMed/14971662" } ] }, { "title": "Vanadate activated Akt and promoted S phase entry.", "journal": "Molecular and cellular biochemistry", "date": "2004", "authors": "Zhang Z, Gao N, He H, Huang C, Luo J, Shi X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14971663", "url": "https://glygen.org/publication/PubMed/14971663" } ] }, { "title": "Intercellular adhesion molecule-1 (ICAM-1) regulates endothelial cell motility through a nitric oxide-dependent pathway.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kevil CG, Orr AW, Langston W, Mickett K, Murphy-Ullrich J, Patel RP, Kucik DF, Bullard DC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14985356", "url": "https://glygen.org/publication/PubMed/14985356" } ] }, { "title": "Inhibition of platelet-derived growth factor signalling induces autophagy in malignant glioma cells.", "journal": "British journal of cancer", "date": "2004-03-08", "authors": "Takeuchi H, Kanzawa T, Kondo Y, Kondo S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14997209", "url": "https://glygen.org/publication/PubMed/14997209" } ] }, { "title": "Modulation of insulin effects on phosphorylation of protein kinase B and glycogen synthesis by tumor necrosis factor-alpha in HepG2 cells.", "journal": "Biochimica et biophysica acta", "date": "2004", "authors": "Gupta D, Khandelwal RL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15026145", "url": "https://glygen.org/publication/PubMed/15026145" } ] }, { "title": "The cyclooxygenase-2 inhibitor celecoxib blocks phosphorylation of Akt and induces apoptosis in human cholangiocarcinoma cells.", "journal": "Molecular cancer therapeutics", "date": "2004", "authors": "Wu T, Leng J, Han C, Demetris AJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15026550", "url": "https://glygen.org/publication/PubMed/15026550" } ] }, { "title": "Molecular alterations in apoptotic pathways after PKB/Akt-mediated chemoresistance in NCI H460 cells.", "journal": "British journal of cancer", "date": "2004", "authors": "Hovelmann S, Beckers TL, Schmidt M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15150572", "url": "https://glygen.org/publication/PubMed/15150572" } ] }, { "title": "Regulation of protein kinase B/Akt activity and Ser473 phosphorylation by protein kinase Calpha in endothelial cells.", "journal": "Cellular signalling", "date": "2004", "authors": "Partovian C, Simons M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15157674", "url": "https://glygen.org/publication/PubMed/15157674" } ] }, { "title": "Positive correlation between overexpression of phospho-BAD with phosphorylated Akt at serine 473 but not threonine 308 in colorectal carcinoma.", "journal": "Cancer letters", "date": "2004", "authors": "Khor TO, Gul YA, Ithnin H, Seow HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-198323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198323" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15183529", "url": "https://glygen.org/publication/PubMed/15183529" } ] }, { "title": "AKT status controls susceptibility of malignant keratinocytes to the early-activated and UVB-induced apoptotic pathway.", "journal": "The Journal of investigative dermatology", "date": "2004", "authors": "Decraene D, Van Laethem A, Agostinis P, De Peuter L, Degreef H, Bouillon R, Garmyn M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15191562", "url": "https://glygen.org/publication/PubMed/15191562" } ] }, { "title": "Switch from alphavbeta5 to alphavbeta6 integrin expression protects squamous cell carcinomas from anoikis.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Janes SM, Watt FM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15289499", "url": "https://glygen.org/publication/PubMed/15289499" } ] }, { "title": "Detection of serine 473 phosphorylated Akt in acute myeloid leukaemia blasts by flow cytometry.", "journal": "British journal of haematology", "date": "2004", "authors": "Tazzari PL, Cappellini A, Grafone T, Mantovani I, Ricci F, Billi AM, Ottaviani E, Conte R, Martinelli G, Martelli AM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15327518", "url": "https://glygen.org/publication/PubMed/15327518" } ] }, { "title": "Protein kinase C betaII regulates Akt phosphorylation on Ser-473 in a cell type- and stimulus-specific fashion.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kawakami Y, Nishimoto H, Kitaura J, Maeda-Yamamoto M, Kato RM, Littman DR, Leitges M, Rawlings DJ, Kawakami T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15364915", "url": "https://glygen.org/publication/PubMed/15364915" } ] }, { "title": "Effect of overexpression and nuclear translocation of constitutively active PKB-alpha on cellular survival and proliferation in HepG2 cells.", "journal": "Journal of cellular biochemistry", "date": "2004", "authors": "Gupta D, Syed NA, Roesler WJ, Khandelwal RL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15372623", "url": "https://glygen.org/publication/PubMed/15372623" } ] }, { "title": "Identification and characterization of pleckstrin-homology-domain-dependent and isoenzyme-specific Akt inhibitors.", "journal": "The Biochemical journal", "date": "2005", "authors": "Barnett SF, Defeo-Jones D, Fu S, Hancock PJ, Haskell KM, Jones RE, Kahana JA, Kral AM, Leander K, Lee LL, Malinowski J, McAvoy EM, Nahas DD, Robinson RG, Huber HE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15456405", "url": "https://glygen.org/publication/PubMed/15456405" } ] }, { "title": "Inhibition of AKT survival pathway by a small molecule inhibitor in human endometrial cancer cells.", "journal": "British journal of cancer", "date": "2004", "authors": "Jin X, Gossett DR, Wang S, Yang D, Cao Y, Chen J, Guo R, Reynolds RK, Lin J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15505622", "url": "https://glygen.org/publication/PubMed/15505622" } ] }, { "title": "Inhibition of akt/protein kinase B signaling by naltrindole in small cell lung cancer cells.", "journal": "Cancer research", "date": "2004", "authors": "Chen YL, Law PY, Loh HH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15574783", "url": "https://glygen.org/publication/PubMed/15574783" } ] }, { "title": "Akt, protein kinase C, and mitogen-activated protein kinase phosphorylation status in head and neck squamous cell carcinoma.", "journal": "Head & neck", "date": "2005", "authors": "Tosi L, Rinaldi E, Carinci F, Farina A, Pastore A, Pelucchi S, Cassano L, Evangelisti R, Carinci P, Volinia S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15641106", "url": "https://glygen.org/publication/PubMed/15641106" } ] }, { "title": "Expression of constitutively active Akt/protein kinase B signals GLUT4 translocation in the absence of an intact actin cytoskeleton.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Eyster CA, Duggins QS, Olson AL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15738003", "url": "https://glygen.org/publication/PubMed/15738003" } ] }, { "title": "COX-2 inhibitor, NS398, enhances Fas-mediated apoptosis via modulation of the PTEN-Akt pathway in human gastric carcinoma cell lines.", "journal": "DNA and cell biology", "date": "2005", "authors": "Honjo S, Osaki M, Ardyanto TD, Hiramatsu T, Maeta N, Ito H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15767780", "url": "https://glygen.org/publication/PubMed/15767780" } ] }, { "title": "Inhibition of ILK in PTEN-mutant human glioblastomas inhibits PKB/Akt activation, induces apoptosis, and delays tumor growth.", "journal": "Oncogene", "date": "2005-05-19", "authors": "Edwards Lincoln A, Thiessen B, Dragowska Wieslawa H, Daynard Tim, Bally Marcel B, Dedhar Shoukat", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15782140", "url": "https://glygen.org/publication/PubMed/15782140" } ] }, { "title": "The role of growth factor receptor pathways in human breast cancer cells adapted to long-term estrogen deprivation.", "journal": "Cancer research", "date": "2005-05-01", "authors": "Sabnis Gauri J, Jelovac Danijela, Long Brian, Brodie Angela", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15867390", "url": "https://glygen.org/publication/PubMed/15867390" } ] }, { "title": "Apoptosis and inhibition of the phosphatidylinositol 3-kinase/Akt signaling pathway in the anti-proliferative actions of dehydroepiandrosterone.", "journal": "Journal of gastroenterology", "date": "2005-05", "authors": "Jiang Yanfang, Miyazaki Teruo, Honda Akira, Hirayama Takeshi, Yoshida Shigemasa, Tanaka Naomi, Matsuzaki Yasushi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15942714", "url": "https://glygen.org/publication/PubMed/15942714" } ] }, { "title": "Dissociation of Akt1 from its negative regulator JIP1 is mediated through the ASK1-MEK-JNK signal transduction pathway during metabolic oxidative stress: a negative feedback loop.", "journal": "The Journal of cell biology", "date": "2005", "authors": "Song JJ, Lee YJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15998799", "url": "https://glygen.org/publication/PubMed/15998799" } ] }, { "title": "A novel role for Gab2 in bFGF-mediated cell survival during retinoic acid-induced neuronal differentiation.", "journal": "The Journal of cell biology", "date": "2005-07-18", "authors": "Mao Yingwei, Lee Angel W-M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16009726", "url": "https://glygen.org/publication/PubMed/16009726" } ] }, { "title": "Compromised arterial function in human type 2 diabetic patients.", "journal": "Diabetes", "date": "2005", "authors": "Okon EB, Chung AW, Rauniyar P, Padilla E, Tejerina T, McManus BM, Luo H, van Breemen C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16046309", "url": "https://glygen.org/publication/PubMed/16046309" } ] }, { "title": "The inhibitory effect of alendronate, a nitrogen-containing bisphosphonate on the PI3K-Akt-NFkappaB pathway in osteosarcoma cells.", "journal": "British journal of pharmacology", "date": "2005", "authors": "Inoue R, Matsuki NA, Jing G, Kanematsu T, Abe K, Hirata M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16100524", "url": "https://glygen.org/publication/PubMed/16100524" } ] }, { "title": "The protein kinase Cbeta-selective inhibitor, Enzastaurin (LY317615.HCl), suppresses signaling through the AKT pathway, induces apoptosis, and suppresses growth of human colon cancer and glioblastoma xenografts.", "journal": "Cancer research", "date": "2005", "authors": "Graff JR, McNulty AM, Hanna KR, Konicek BW, Lynch RL, Bailey SN, Banks C, Capen A, Goode R, Lewis JE, Sams L, Huss KL, Campbell RM, Iversen PW, Neubauer BL, Brown TJ, Musib L, Geeganage S, Thornton D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16103100", "url": "https://glygen.org/publication/PubMed/16103100" } ] }, { "title": "Celecoxib analogues disrupt Akt signaling, which is commonly activated in primary breast tumours.", "journal": "Breast cancer research : BCR", "date": "2005", "authors": "Kucab JE, Lee C, Chen CS, Zhu J, Gilks CB, Cheang M, Huntsman D, Yorida E, Emerman J, Pollak M, Dunn SE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16168126", "url": "https://glygen.org/publication/PubMed/16168126" } ] }, { "title": "Diallyl trisulfide, a constituent of processed garlic, inactivates Akt to trigger mitochondrial translocation of BAD and caspase-mediated apoptosis in human prostate cancer cells.", "journal": "Carcinogenesis", "date": "2006", "authors": "Xiao D, Singh SV", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16169930", "url": "https://glygen.org/publication/PubMed/16169930" } ] }, { "title": "Targeting integrin-linked kinase inhibits Akt signaling pathways and decreases tumor progression of human glioblastoma.", "journal": "Molecular cancer therapeutics", "date": "2005", "authors": "Koul D, Shen R, Bergh S, Lu Y, de Groot JF, Liu TJ, Mills GB, Yung WK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16275989", "url": "https://glygen.org/publication/PubMed/16275989" } ] }, { "title": "Elevated phosphorylation and activation of PDK-1/AKT pathway in human breast cancer.", "journal": "British journal of cancer", "date": "2005", "authors": "Lin HJ, Hsieh FC, Song H, Lin J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16288304", "url": "https://glygen.org/publication/PubMed/16288304" } ] }, { "title": "Inhibition of EGFR signaling in human prostate cancer PC-3 cells by combination treatment with beta-phenylethyl isothiocyanate and curcumin.", "journal": "Carcinogenesis", "date": "2006", "authors": "Kim JH, Xu C, Keum YS, Reddy B, Conney A, Kong AN", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16299382", "url": "https://glygen.org/publication/PubMed/16299382" } ] }, { "title": "Skeletal muscle insulin signaling defects downstream of phosphatidylinositol 3-kinase at the level of Akt are associated with impaired nonoxidative glucose disposal in HIV lipodystrophy.", "journal": "Diabetes", "date": "2005", "authors": "Haugaard SB, Andersen O, Madsbad S, Frosig C, Iversen J, Nielsen JO, Wojtaszewski JF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16306364", "url": "https://glygen.org/publication/PubMed/16306364" } ] }, { "title": "Evaluation of two phosphorylation sites improves the prognostic significance of Akt activation in non-small-cell lung cancer tumors.", "journal": "Journal of clinical oncology : official journal of the American Society of Clinical Oncology", "date": "2006", "authors": "Tsurutani J, Fukuoka J, Tsurutani H, Shih JH, Hewitt SM, Travis WD, Jen J, Dennis PA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16330671", "url": "https://glygen.org/publication/PubMed/16330671" } ] }, { "title": "Overexpression of cyclooxygenase-2 in human HepG2, Bel-7402 and SMMC-7721 hepatoma cell lines and mechanism of cyclooxygenase-2 selective inhibitor celecoxib-induced cell growth inhibition and apoptosis.", "journal": "World journal of gastroenterology", "date": "2005", "authors": "Liu NB, Peng T, Pan C, Yao YY, Shen B, Leng J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16419156", "url": "https://glygen.org/publication/PubMed/16419156" } ] }, { "title": "Interdomain conformational changes in Akt activation revealed by chemical cross-linking and tandem mass spectrometry.", "journal": "Molecular & cellular proteomics : MCP", "date": "2006", "authors": "Huang BX, Kim HY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16531397", "url": "https://glygen.org/publication/PubMed/16531397" } ] }, { "title": "Activation and cross-talk between Akt, NF-kappaB, and unfolded protein response signaling in 1-LN prostate cancer cells consequent to ligation of cell surface-associated GRP78.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Misra UK, Deedwania R, Pizzo SV", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16543232", "url": "https://glygen.org/publication/PubMed/16543232" } ] }, { "title": "Simultaneous inhibition of PDK1/AKT and Fms-like tyrosine kinase 3 signaling by a small-molecule KP372-1 induces mitochondrial dysfunction and apoptosis in acute myelogenous leukemia.", "journal": "Cancer research", "date": "2006", "authors": "Zeng Z, Samudio IJ, Zhang W, Estrov Z, Pelicano H, Harris D, Frolova O, Hail N Jr, Chen W, Kornblau SM, Huang P, Lu Y, Mills GB, Andreeff M, Konopleva M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16585200", "url": "https://glygen.org/publication/PubMed/16585200" } ] }, { "title": "Pathway alterations during glioma progression revealed by reverse phase protein lysate arrays.", "journal": "Proteomics", "date": "2006-05", "authors": "Jiang Rongcai, Mircean Cristian, Shmulevich Ilya, Cogdell David, Jia Yu, Tabus Ioan, Aldape Kenneth, Sawaya Raymond, Bruner Janet M, Fuller Gregory N, Zhang Wei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16619307", "url": "https://glygen.org/publication/PubMed/16619307" } ] }, { "title": "Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Cai SL, Tee AR, Short JD, Bergeron JM, Kim J, Shen J, Guo R, Johnson CL, Kiguchi K, Walker CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16636147", "url": "https://glygen.org/publication/PubMed/16636147" } ] }, { "title": "Exercise-induced phosphorylation of the novel Akt substrates AS160 and filamin A in human skeletal muscle.", "journal": "Diabetes", "date": "2006", "authors": "Deshmukh A, Coffey VG, Zhong Z, Chibalin AV, Hawley JA, Zierath JR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16731842", "url": "https://glygen.org/publication/PubMed/16731842" } ] }, { "title": "Analysis of human skeletal muscle after 48 h immobilization reveals alterations in mRNA and protein for extracellular matrix components.", "journal": "Journal of applied physiology (Bethesda, Md. : 1985)", "date": "2006-10", "authors": "Urso Maria L, Scrimgeour Angus G, Chen Yi-Wen, Thompson Paul D, Clarkson Priscilla M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16763108", "url": "https://glygen.org/publication/PubMed/16763108" } ] }, { "title": "Elevated inorganic phosphate stimulates Akt-ERK1/2-Mnk1 signaling in human lung cells.", "journal": "American journal of respiratory cell and molecular biology", "date": "2006", "authors": "Chang SH, Yu KN, Lee YS, An GH, Beck GR Jr, Colburn NH, Lee KH, Cho MH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16763222", "url": "https://glygen.org/publication/PubMed/16763222" } ] }, { "title": "Requirement for Akt-mediated survival in cell transformation by the dbl oncogene.", "journal": "Cellular signalling", "date": "2007", "authors": "Morley S, Wagner J, Kauppinen K, Sherman M, Manor D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16916597", "url": "https://glygen.org/publication/PubMed/16916597" } ] }, { "title": "Regulation of Akt/PKB by phosphatidylinositol 3-kinase-dependent and -independent pathways in B-cell chronic lymphocytic leukemia cells: role of protein kinase C{beta}.", "journal": "Journal of leukocyte biology", "date": "2006", "authors": "Barragan M, de Frias M, Iglesias-Serret D, Campas C, Castano E, Santidrian AF, Coll-Mulet L, Cosialls AM, Domingo A, Pons G, Gil J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16940331", "url": "https://glygen.org/publication/PubMed/16940331" } ] }, { "title": "Molecular pathways leading to oxidative stress-induced phosphorylation of Akt.", "journal": "Antioxidants & redox signaling", "date": "2006", "authors": "Lahair MM, Howe CJ, Rodriguez-Mora O, McCubrey JA, Franklin RA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16987028", "url": "https://glygen.org/publication/PubMed/16987028" } ] }, { "title": "The protein phosphatase-1/inhibitor-2 complex differentially regulates GSK3 dephosphorylation and increases sarcoplasmic/endoplasmic reticulum calcium ATPase 2 levels.", "journal": "Experimental cell research", "date": "2006-11-01", "authors": "King Taj D, Gandy Johanna C, Bijur Gautam N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16987514", "url": "https://glygen.org/publication/PubMed/16987514" } ] }, { "title": "Contrasting insulin dose-dependent defects in activation of atypical protein kinase C and protein kinase B/Akt in muscles of obese diabetic humans.", "journal": "Diabetologia", "date": "2006", "authors": "Casaubon L, Sajan MP, Rivas J, Powe JL, Standaert ML, Farese RV", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17028898", "url": "https://glygen.org/publication/PubMed/17028898" } ] }, { "title": "Cotreatment with a novel phosphoinositide analogue inhibitor and carmustine enhances chemotherapeutic efficacy by attenuating AKT activity in gliomas.", "journal": "Cancer", "date": "2006", "authors": "Van Meter TE, Broaddus WC, Cash D, Fillmore H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17041888", "url": "https://glygen.org/publication/PubMed/17041888" } ] }, { "title": "AS160 phosphorylation is associated with activation of alpha2beta2gamma1- but not alpha2beta2gamma3-AMPK trimeric complex in skeletal muscle during exercise in humans.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2007-03", "authors": "Treebak Jonas T, Birk Jesper B, Rose Adam J, Kiens Bente, Richter Erik A, Wojtaszewski J\u00f8rgen F P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17077344", "url": "https://glygen.org/publication/PubMed/17077344" } ] }, { "title": "Inflammation and IGF-I activate the Akt pathway in breast cancer.", "journal": "International journal of cancer", "date": "2007", "authors": "Prueitt RL, Boersma BJ, Howe TM, Goodman JE, Thomas DD, Ying L, Pfiester CM, Yfantis HG, Cottrell JR, Lee DH, Remaley AT, Hofseth LJ, Wink DA, Ambs S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17096325", "url": "https://glygen.org/publication/PubMed/17096325" } ] }, { "title": "Mitochondrial respiration defects in cancer cells cause activation of Akt survival pathway through a redox-mediated mechanism.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Pelicano H, Xu RH, Du M, Feng L, Sasaki R, Carew JS, Hu Y, Ramdas L, Hu L, Keating MJ, Zhang W, Plunkett W, Huang P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17158952", "url": "https://glygen.org/publication/PubMed/17158952" } ] }, { "title": "Activation of p38MAPK by repetitive low-grade oxidative stress leads to pro-survival effects.", "journal": "Biochimica et biophysica acta", "date": "2007-03", "authors": "Sen Prosenjit, Chakraborty Prabir Kumar, Raha Sanghamitra", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17196679", "url": "https://glygen.org/publication/PubMed/17196679" } ] }, { "title": "Roles of cyclooxygenase-2 and phosphorylated Akt (Thr308) in cardiac hypertrophy regression mediated by left-ventricular unloading.", "journal": "The Journal of thoracic and cardiovascular surgery", "date": "2007", "authors": "Wohlschlaeger J, Schmitz KJ, Palatty J, Takeda A, Takeda N, Vahlhaus C, Levkau B, Stypmann J, Schmid C, Schmid KW, Baba HA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17198778", "url": "https://glygen.org/publication/PubMed/17198778" } ] }, { "title": "Activation of Akt predicts poor outcome in neuroblastoma.", "journal": "Cancer research", "date": "2007", "authors": "Opel D, Poremba C, Simon T, Debatin KM, Fulda S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17234785", "url": "https://glygen.org/publication/PubMed/17234785" } ] }, { "title": "Ceramide- and oxidant-induced insulin resistance involve loss of insulin-dependent Rac-activation and actin remodeling in muscle cells.", "journal": "Diabetes", "date": "2007", "authors": "JeBailey L, Wanono O, Niu W, Roessler J, Rudich A, Klip A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17259384", "url": "https://glygen.org/publication/PubMed/17259384" } ] }, { "title": "[High D-glucose alters PI3K and Akt signaling and leads to endothelial cell migration, proliferation and angiogenesis dysfunction].", "journal": "Zhonghua yi xue za zhi", "date": "2006", "authors": "Yu P, Yu DM, Qi JC, Wang J, Zhang QM, Zhang JY, Tang YZ, Xing QL, Li MZ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17313857", "url": "https://glygen.org/publication/PubMed/17313857" } ] }, { "title": "Dissociation between the translocation and the activation of Akt in fMLP-stimulated human neutrophils--effect of prostaglandin E2.", "journal": "Journal of leukocyte biology", "date": "2007", "authors": "Burelout C, Naccache PH, Bourgoin SG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17339610", "url": "https://glygen.org/publication/PubMed/17339610" } ] }, { "title": "Real-time imaging nuclear translocation of Akt1 in HCC cells.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Zhu L, Hu C, Li J, Xue P, He X, Ge C, Qin W, Yao G, Gu J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17400190", "url": "https://glygen.org/publication/PubMed/17400190" } ] }, { "title": "Intramolecular and intermolecular interactions of protein kinase B define its activation in vivo.", "journal": "PLoS biology", "date": "2007", "authors": "Calleja V, Alcor D, Laguerre M, Park J, Vojnovic B, Hemmings BA, Downward J, Parker PJ, Larijani B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17407381", "url": "https://glygen.org/publication/PubMed/17407381" } ] }, { "title": "Parathyroid hormone-related protein induces cell survival in human renal cell carcinoma through the PI3K Akt pathway: evidence for a critical role for integrin-linked kinase and nuclear factor kappa B.", "journal": "Carcinogenesis", "date": "2007", "authors": "Agouni A, Sourbier C, Danilin S, Rothhut S, Lindner V, Jacqmin D, Helwig JJ, Lang H, Massfelder T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17468516", "url": "https://glygen.org/publication/PubMed/17468516" } ] }, { "title": "Molecular mechanisms of the diabetogenic effects of arsenic: inhibition of insulin signaling by arsenite and methylarsonous acid.", "journal": "Environmental health perspectives", "date": "2007", "authors": "Paul DS, Harmon AW, Devesa V, Thomas DJ, Styblo M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17520061", "url": "https://glygen.org/publication/PubMed/17520061" } ] }, { "title": "The loss of telomerase activity in highly differentiated CD8+CD28-CD27- T cells is associated with decreased Akt (Ser473) phosphorylation.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2007", "authors": "Plunkett FJ, Franzese O, Finney HM, Fletcher JM, Belaramani LL, Salmon M, Dokal I, Webster D, Lawson AD, Akbar AN", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17548608", "url": "https://glygen.org/publication/PubMed/17548608" } ] }, { "title": "Molecular mechanism of bis(maltolato)oxovanadium(IV)-induced insulin signaling in 3T3-L1 and IM9 cells: impact of dexamethasone.", "journal": "Journal of molecular endocrinology", "date": "2007", "authors": "Bose S, Farah MA, Jung HC, Lee JH, Kim Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17556533", "url": "https://glygen.org/publication/PubMed/17556533" } ] }, { "title": "Inhibition of mammalian target of rapamycin signaling by 2-(morpholin-1-yl)pyrimido[2,1-alpha]isoquinolin-4-one.", "journal": "The Journal of biological chemistry", "date": "2007-08-17", "authors": "Ballou Lisa M, Selinger Elzbieta S, Choi Jun Yong, Drueckhammer Dale G, Lin Richard Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17562705", "url": "https://glygen.org/publication/PubMed/17562705" } ] }, { "title": "[Molecular mechanisms of DHEA and DHEAs on apoptosis and cell cycle arrest via Akt pathway in hepatoma cell lines].", "journal": "Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology", "date": "2007", "authors": "Jiang YF, Zhao PW, Tan Y, Liu LH, Li MH, Matsuzaki Y, Niu JQ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17594810", "url": "https://glygen.org/publication/PubMed/17594810" } ] }, { "title": "Carboxy-terminal modulator protein induces Akt phosphorylation and activation, thereby enhancing antiapoptotic, glycogen synthetic, and glucose uptake pathways.", "journal": "American journal of physiology. Cell physiology", "date": "2007", "authors": "Ono H, Sakoda H, Fujishiro M, Anai M, Kushiyama A, Fukushima Y, Katagiri H, Ogihara T, Oka Y, Kamata H, Horike N, Uchijima Y, Kurihara H, Asano T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17615157", "url": "https://glygen.org/publication/PubMed/17615157" } ] }, { "title": "EF24 induces G2/M arrest and apoptosis in cisplatin-resistant human ovarian cancer cells by increasing PTEN expression.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Selvendiran K, Tong L, Vishwanath S, Bratasz A, Trigg NJ, Kutala VK, Hideg K, Kuppusamy P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17684018", "url": "https://glygen.org/publication/PubMed/17684018" } ] }, { "title": "Loss of PTEN expression does not contribute to PDK-1 activity and PKC activation-loop phosphorylation in Jurkat leukaemic T cells.", "journal": "Cellular signalling", "date": "2007", "authors": "Freeley M, Park J, Yang KJ, Wange RL, Volkov Y, Kelleher D, Long A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17826953", "url": "https://glygen.org/publication/PubMed/17826953" } ] }, { "title": "PDK-1/AKT pathway as a novel therapeutic target in rhabdomyosarcoma cells using OSU-03012 compound.", "journal": "British journal of cancer", "date": "2007", "authors": "Cen L, Hsieh FC, Lin HJ, Chen CS, Qualman SJ, Lin J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17848913", "url": "https://glygen.org/publication/PubMed/17848913" } ] }, { "title": "Protease-activated receptor-induced Akt activation--regulation and possible function.", "journal": "Journal of thrombosis and haemostasis : JTH", "date": "2007", "authors": "Resendiz JC, Kroll MH, Lassila R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17883592", "url": "https://glygen.org/publication/PubMed/17883592" } ] }, { "title": "EGFR and beta1 integrins utilize different signaling pathways to activate Akt.", "journal": "Experimental cell research", "date": "2008", "authors": "Velling T, Stefansson A, Johansson S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17910952", "url": "https://glygen.org/publication/PubMed/17910952" } ] }, { "title": "Live-cell molecular analysis of Akt activation reveals roles for activation loop phosphorylation.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Ananthanarayanan B, Fosbrink M, Rahdar M, Zhang J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17928291", "url": "https://glygen.org/publication/PubMed/17928291" } ] }, { "title": "Activation of AMP-activated protein kinase, inhibition of pyruvate dehydrogenase activity, and redistribution of substrate partitioning mediate the acute insulin-sensitizing effects of troglitazone in skeletal muscle cells.", "journal": "Journal of cellular physiology", "date": "2008", "authors": "Fediuc S, Pimenta AS, Gaidhu MP, Ceddia RB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17960559", "url": "https://glygen.org/publication/PubMed/17960559" } ] }, { "title": "Physiological changes in GRK2 regulate CCL2-induced signaling to ERK1/2 and Akt but not to MEK1/2 and calcium.", "journal": "Journal of neurochemistry", "date": "2008", "authors": "Kleibeuker W, Jurado-Pueyo M, Murga C, Eijkelkamp N, Mayor F Jr, Heijnen CJ, Kavelaars A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17971124", "url": "https://glygen.org/publication/PubMed/17971124" } ] }, { "title": "Impaired insulin-stimulated phosphorylation of Akt and AS160 in skeletal muscle of women with polycystic ovary syndrome is reversed by pioglitazone treatment.", "journal": "Diabetes", "date": "2008", "authors": "Hojlund K, Glintborg D, Andersen NR, Birk JB, Treebak JT, Frosig C, Beck-Nielsen H, Wojtaszewski JF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17977950", "url": "https://glygen.org/publication/PubMed/17977950" } ] }, { "title": "Mutation of Y179 on phospholipase D2 (PLD2) upregulates DNA synthesis in a PI3K-and Akt-dependent manner.", "journal": "Cellular signalling", "date": "2008", "authors": "Di Fulvio M, Frondorf K, Gomez-Cambronero J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18006275", "url": "https://glygen.org/publication/PubMed/18006275" } ] }, { "title": "Protein phosphatase 2A regulates life and death decisions via Akt in a context-dependent manner.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Andrabi S, Gjoerup OV, Kean JA, Roberts TM, Schaffhausen B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18006659", "url": "https://glygen.org/publication/PubMed/18006659" } ] }, { "title": "Regulation of Akt/PKB activity by P21-activated kinase in cardiomyocytes.", "journal": "Journal of molecular and cellular cardiology", "date": "2008", "authors": "Mao K, Kobayashi S, Jaffer ZM, Huang Y, Volden P, Chernoff J, Liang Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18054038", "url": "https://glygen.org/publication/PubMed/18054038" } ] }, { "title": "PI-3K/Akt pathway-dependent cyclin D1 expression is responsible for arsenite-induced human keratinocyte transformation.", "journal": "Environmental health perspectives", "date": "2008", "authors": "Ouyang W, Luo W, Zhang D, Jian J, Ma Q, Li J, Shi X, Chen J, Gao J, Huang C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18197291", "url": "https://glygen.org/publication/PubMed/18197291" } ] }, { "title": "Phosphatidylinositol 3-kinase/AKT pathway activation in human vestibular schwannoma.", "journal": "Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology", "date": "2008", "authors": "Jacob A, Lee TX, Neff BA, Miller S, Welling B, Chang LS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18199958", "url": "https://glygen.org/publication/PubMed/18199958" } ] }, { "title": "Isoform-specific defects of insulin stimulation of Akt/protein kinase B (PKB) in skeletal muscle cells from type 2 diabetic patients.", "journal": "Diabetologia", "date": "2008", "authors": "Cozzone D, Frojdo S, Disse E, Debard C, Laville M, Pirola L, Vidal H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18204829", "url": "https://glygen.org/publication/PubMed/18204829" } ] }, { "title": "Casein Kinase I epsilon positively regulates the Akt pathway in breast cancer cell lines.", "journal": "Biochemical and biophysical research communications", "date": "2008", "authors": "Modak C, Bryant P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18262492", "url": "https://glygen.org/publication/PubMed/18262492" } ] }, { "title": "Interaction between simian virus 40 large T antigen and insulin receptor substrate 1 is disrupted by the K1 mutation, resulting in the loss of large T antigen-mediated phosphorylation of Akt.", "journal": "Journal of virology", "date": "2008", "authors": "Yu Y, Alwine JC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18305032", "url": "https://glygen.org/publication/PubMed/18305032" } ] }, { "title": "Isosilybin B causes androgen receptor degradation in human prostate carcinoma cells via PI3K-Akt-Mdm2-mediated pathway.", "journal": "Oncogene", "date": "2008", "authors": "Deep G, Oberlies NH, Kroll DJ, Agarwal R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18332867", "url": "https://glygen.org/publication/PubMed/18332867" } ] }, { "title": "The eIF4E RNA regulon promotes the Akt signaling pathway.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Culjkovic B, Tan K, Orolicki S, Amri A, Meloche S, Borden KL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18391071", "url": "https://glygen.org/publication/PubMed/18391071" } ] }, { "title": "The potential role of Akt phosphorylation in human cancers.", "journal": "The International journal of biological markers", "date": "2008", "authors": "Cicenas J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18409144", "url": "https://glygen.org/publication/PubMed/18409144" } ] }, { "title": "siRNA-mediated reduction of inhibitor of nuclear factor-kappaB kinase prevents tumor necrosis factor-alpha-induced insulin resistance in human skeletal muscle.", "journal": "Diabetes", "date": "2008", "authors": "Austin RL, Rune A, Bouzakri K, Zierath JR, Krook A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18443205", "url": "https://glygen.org/publication/PubMed/18443205" } ] }, { "title": "Decrease in Akt/PKB signalling in human skeletal muscle by resistance exercise.", "journal": "European journal of applied physiology", "date": "2008-09", "authors": "Deldicque Louise, Atherton Philip, Patel Rekha, Theisen Daniel, Nielens Henri, Rennie Michael J, Francaux Marc", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18535836", "url": "https://glygen.org/publication/PubMed/18535836" } ] }, { "title": "Infliximab inhibits DNA repair in ultraviolet B-irradiated premalignant keratinocytes.", "journal": "Experimental dermatology", "date": "2008", "authors": "Faurschou A, Gniadecki R, Wulf HC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18557931", "url": "https://glygen.org/publication/PubMed/18557931" } ] }, { "title": "Globular adiponectin stimulates glucose transport in type 2 diabetic muscle.", "journal": "Diabetes/metabolism research and reviews", "date": "2008-10", "authors": "Kuoppamaa Heidi, Skrobuk Paulina, Sihvo Maarit, Hiukka Anne, Chibalin Alexander V, Zierath Juleen R, Koistinen Heikki A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18615850", "url": "https://glygen.org/publication/PubMed/18615850" } ] }, { "title": "Down-regulation of the PI3-kinase/Akt pathway by ERK MAP kinase in growth factor signaling.", "journal": "Genes to cells : devoted to molecular & cellular mechanisms", "date": "2008", "authors": "Hayashi H, Tsuchiya Y, Nakayama K, Satoh T, Nishida E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18691227", "url": "https://glygen.org/publication/PubMed/18691227" } ] }, { "title": "Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling.", "journal": "PloS one", "date": "2008", "authors": "She QB, Chandarlapaty S, Ye Q, Lobo J, Haskell KM, Leander KR, DeFeo-Jones D, Huber HE, Rosen N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18725974", "url": "https://glygen.org/publication/PubMed/18725974" } ] }, { "title": "Raw single-wall carbon nanotubes induce oxidative stress and activate MAPKs, AP-1, NF-kappaB, and Akt in normal and malignant human mesothelial cells.", "journal": "Environmental health perspectives", "date": "2008", "authors": "Pacurari M, Yin XJ, Zhao J, Ding M, Leonard SS, Schwegler-Berry D, Ducatman BS, Sbarra D, Hoover MD, Castranova V, Vallyathan V", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18795165", "url": "https://glygen.org/publication/PubMed/18795165" } ] }, { "title": "Down-regulation of Akt/mammalian target of rapamycin signaling pathway in response to myostatin overexpression in skeletal muscle.", "journal": "Endocrinology", "date": "2009", "authors": "Amirouche A, Durieux AC, Banzet S, Koulmann N, Bonnefoy R, Mouret C, Bigard X, Peinnequin A, Freyssenet D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18801898", "url": "https://glygen.org/publication/PubMed/18801898" } ] }, { "title": "Adenylyl cyclase type VI increases Akt activity and phospholamban phosphorylation in cardiac myocytes.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Gao MH, Tang T, Guo T, Miyanohara A, Yajima T, Pestonjamasp K, Feramisco JR, Hammond HK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18838385", "url": "https://glygen.org/publication/PubMed/18838385" } ] }, { "title": "Akt inhibition promotes autophagy and sensitizes PTEN-null tumors to lysosomotropic agents.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Degtyarev M, De Maziere A, Orr C, Lin J, Lee BB, Tien JY, Prior WW, van Dijk S, Wu H, Gray DC, Davis DP, Stern HM, Murray LJ, Hoeflich KP, Klumperman J, Friedman LS, Lin K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18838554", "url": "https://glygen.org/publication/PubMed/18838554" } ] }, { "title": "Akt activates NOS3 and separately restores barrier integrity in H2O2-stressed human cardiac microvascular endothelium.", "journal": "American journal of physiology. Heart and circulatory physiology", "date": "2008", "authors": "Dossumbekova A, Berdyshev EV, Gorshkova I, Shao Z, Li C, Long P, Joshi A, Natarajan V, Vanden Hoek TL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18931031", "url": "https://glygen.org/publication/PubMed/18931031" } ] }, { "title": "Regional hippocampal differences in AKT survival signaling across the lifespan: implications for CA1 vulnerability with aging.", "journal": "Cell death and differentiation", "date": "2009", "authors": "Jackson TC, Rani A, Kumar A, Foster TC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19039330", "url": "https://glygen.org/publication/PubMed/19039330" } ] }, { "title": "Membrane androgen receptor activation triggers down-regulation of PI-3K/Akt/NF-kappaB activity and induces apoptotic responses via Bad, FasL and caspase-3 in DU145 prostate cancer cells.", "journal": "Molecular cancer", "date": "2008", "authors": "Papadopoulou N, Charalampopoulos I, Anagnostopoulou V, Konstantinidis G, Foller M, Gravanis A, Alevizopoulos K, Lang F, Stournaras C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19055752", "url": "https://glygen.org/publication/PubMed/19055752" } ] }, { "title": "c-Src-p38 mitogen-activated protein kinase signaling is required for Akt activation in response to ionizing radiation.", "journal": "Molecular cancer research : MCR", "date": "2008", "authors": "Kim MJ, Byun JY, Yun CH, Park IC, Lee KH, Lee SJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19074832", "url": "https://glygen.org/publication/PubMed/19074832" } ] }, { "title": "[Effects of small interfering RNA (siRNA) against Par-4 gene on the apoptosis of human bone marrow mesenchymal stem cells].", "journal": "Zhonghua er ke za zhi = Chinese journal of pediatrics", "date": "2008", "authors": "Lu C, Chen JQ, Zhou GP, Wu SH, Guan YF, Yuan CS, Huang SM, Guo XR, Chen RH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19099901", "url": "https://glygen.org/publication/PubMed/19099901" } ] }, { "title": "Obestatin stimulates Akt signalling in gastric cancer cells through beta-arrestin-mediated epidermal growth factor receptor transactivation.", "journal": "Endocrine-related cancer", "date": "2009", "authors": "Alvarez CJ, Lodeiro M, Theodoropoulou M, Camina JP, Casanueva FF, Pazos Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19153210", "url": "https://glygen.org/publication/PubMed/19153210" } ] }, { "title": "The level of AKT phosphorylation on threonine 308 but not on serine 473 is associated with high-risk cytogenetics and predicts poor overall survival in acute myeloid leukaemia.", "journal": "Leukemia", "date": "2009", "authors": "Gallay N, Dos Santos C, Cuzin L, Bousquet M, Simmonet Gouy V, Chaussade C, Attal M, Payrastre B, Demur C, Recher C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19158829", "url": "https://glygen.org/publication/PubMed/19158829" } ] }, { "title": "Role of a novel PH-kinase domain interface in PKB/Akt regulation: structural mechanism for allosteric inhibition.", "journal": "PLoS biology", "date": "2009", "authors": "Calleja V, Laguerre M, Parker PJ, Larijani B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19166270", "url": "https://glygen.org/publication/PubMed/19166270" } ] }, { "title": "Phosphatidylinositol 3 kinase-Akt signaling serves as a circadian output in the retina.", "journal": "Journal of neurochemistry", "date": "2009-03", "authors": "Ko Michael L, Jian Kuihuan, Shi Liheng, Ko Gladys Y-P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19166512", "url": "https://glygen.org/publication/PubMed/19166512" } ] }, { "title": "Gastrointestinal growth factors and hormones have divergent effects on Akt activation.", "journal": "Cellular signalling", "date": "2009", "authors": "Berna MJ, Tapia JA, Sancho V, Thill M, Pace A, Hoffmann KM, Gonzalez-Fernandez L, Jensen RT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19166928", "url": "https://glygen.org/publication/PubMed/19166928" } ] }, { "title": "Active-site inhibitors of mTOR target rapamycin-resistant outputs of mTORC1 and mTORC2.", "journal": "PLoS biology", "date": "2009-02-10", "authors": "Feldman Morris E, Apsel Beth, Uotila Aino, Loewith Robbie, Knight Zachary A, Ruggero Davide, Shokat Kevan M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19209957", "url": "https://glygen.org/publication/PubMed/19209957" } ] }, { "title": "Beta-hydroxy-beta-methylbutyrate (HMB) stimulates myogenic cell proliferation, differentiation and survival via the MAPK/ERK and PI3K/Akt pathways.", "journal": "Biochimica et biophysica acta", "date": "2009", "authors": "Kornasio R, Riederer I, Butler-Browne G, Mouly V, Uni Z, Halevy O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19211028", "url": "https://glygen.org/publication/PubMed/19211028" } ] }, { "title": "Noncanonical activation of Akt/protein kinase B in {beta}-cells by the incretin hormone glucose-dependent insulinotropic polypeptide.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Widenmaier SB, Sampaio AV, Underhill TM, McIntosh CH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19233842", "url": "https://glygen.org/publication/PubMed/19233842" } ] }, { "title": "The expression of protein kinase B in gastric cancer cell apoptosis induced by 12-O-tetradecanoylphorbol-1, 3-acetate.", "journal": "Cellular & molecular biology letters", "date": "2009", "authors": "Zhang B, Xia C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19238332", "url": "https://glygen.org/publication/PubMed/19238332" } ] }, { "title": "Synergistic effect of ERK inhibition on tetrandrine-induced apoptosis in A549 human lung carcinoma cells.", "journal": "Journal of veterinary science", "date": "2009", "authors": "Cho HS, Chang SH, Chung YS, Shin JY, Park SJ, Lee ES, Hwang SK, Kwon JT, Tehrani AM, Woo M, Noh MS, Hanifah H, Jin H, Xu CX, Cho MH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19255520", "url": "https://glygen.org/publication/PubMed/19255520" } ] }, { "title": "c-Src regulates Akt signaling in response to ghrelin via beta-arrestin signaling-independent and -dependent mechanisms.", "journal": "PloS one", "date": "2009", "authors": "Lodeiro M, Theodoropoulou M, Pardo M, Casanueva FF, Camina JP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19262695", "url": "https://glygen.org/publication/PubMed/19262695" } ] }, { "title": "S9, a novel anticancer agent, exerts its anti-proliferative activity by interfering with both PI3K-Akt-mTOR signaling and microtubule cytoskeleton.", "journal": "PloS one", "date": "2009", "authors": "Zhang C, Yang N, Yang CH, Ding HS, Luo C, Zhang Y, Wu MJ, Zhang XW, Shen X, Jiang HL, Meng LH, Ding J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19293927", "url": "https://glygen.org/publication/PubMed/19293927" } ] }, { "title": "Akt regulates L-type Ca2+ channel activity by modulating Cavalpha1 protein stability.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Catalucci D, Zhang DH, DeSantiago J, Aimond F, Barbara G, Chemin J, Bonci D, Picht E, Rusconi F, Dalton ND, Peterson KL, Richard S, Bers DM, Brown JH, Condorelli G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19307602", "url": "https://glygen.org/publication/PubMed/19307602" } ] }, { "title": "AKT/eNOS signaling module functions as a potential feedback loop in the growth hormone signaling pathway.", "journal": "Journal of molecular signaling", "date": "2009", "authors": "Li CJ, Elsasser TH, Kahl S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19320971", "url": "https://glygen.org/publication/PubMed/19320971" } ] }, { "title": "Integrin-linked kinase is required for radial sorting of axons and Schwann cell remyelination in the peripheral nervous system.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Pereira JA, Benninger Y, Baumann R, Goncalves AF, Ozcelik M, Thurnherr T, Tricaud N, Meijer D, Fassler R, Suter U, Relvas JB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19349584", "url": "https://glygen.org/publication/PubMed/19349584" } ] }, { "title": "Increased AKT S473 phosphorylation after mTORC1 inhibition is rictor dependent and does not predict tumor cell response to PI3K/mTOR inhibition.", "journal": "Molecular cancer therapeutics", "date": "2009-04", "authors": "Breuleux Madlaina, Klopfenstein Matthieu, Stephan Christine, Doughty Cheryl A, Barys Louise, Maira Saveur-Michel, Kwiatkowski David, Lane Heidi A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19372546", "url": "https://glygen.org/publication/PubMed/19372546" } ] }, { "title": "Ku-0063794 is a specific inhibitor of the mammalian target of rapamycin (mTOR).", "journal": "The Biochemical journal", "date": "2009", "authors": "Garcia-Martinez JM, Moran J, Clarke RG, Gray A, Cosulich SC, Chresta CM, Alessi DR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19402821", "url": "https://glygen.org/publication/PubMed/19402821" } ] }, { "title": "The Akt inhibitor triciribine sensitizes prostate carcinoma cells to TRAIL-induced apoptosis.", "journal": "International journal of cancer", "date": "2009", "authors": "Dieterle A, Orth R, Daubrawa M, Grotemeier A, Alers S, Ullrich S, Lammers R, Wesselborg S, Stork B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19422047", "url": "https://glygen.org/publication/PubMed/19422047" } ] }, { "title": "Probing Akt-inhibitor interaction by chemical cross-linking and mass spectrometry.", "journal": "Journal of the American Society for Mass Spectrometry", "date": "2009", "authors": "Huang BX, Kim HY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19446470", "url": "https://glygen.org/publication/PubMed/19446470" } ] }, { "title": "Inhibitor hijacking of Akt activation.", "journal": "Nature chemical biology", "date": "2009", "authors": "Okuzumi T, Fiedler D, Zhang C, Gray DC, Aizenstein B, Hoffman R, Shokat KM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19465931", "url": "https://glygen.org/publication/PubMed/19465931" } ] }, { "title": "Phospholipid transfer protein reduces phosphorylation of tau in human neuronal cells.", "journal": "Journal of neuroscience research", "date": "2009", "authors": "Dong W, Albers JJ, Vuletic S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19472218", "url": "https://glygen.org/publication/PubMed/19472218" } ] }, { "title": "Higher intramuscular triacylglycerol in women does not impair insulin sensitivity and proximal insulin signaling.", "journal": "Journal of applied physiology (Bethesda, Md. : 1985)", "date": "2009", "authors": "Hoeg L, Roepstorff C, Thiele M, Richter EA, Wojtaszewski JF, Kiens B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19574502", "url": "https://glygen.org/publication/PubMed/19574502" } ] }, { "title": "AKT (protein kinase B) is implicated in meiotic maturation of porcine oocytes.", "journal": "Reproduction (Cambridge, England)", "date": "2009", "authors": "Kalous J, Kubelka M, Solc P, Susor A, Motlik J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19633130", "url": "https://glygen.org/publication/PubMed/19633130" } ] }, { "title": "In vitro evaluation of pan-PI3-kinase inhibitor SF1126 in trastuzumab-sensitive and trastuzumab-resistant HER2-over-expressing breast cancer cells.", "journal": "Cancer chemotherapy and pharmacology", "date": "2010-03", "authors": "Ozbay Tuba, Durden Donald L, Liu Tongrui, O'Regan Ruth M, Nahta Rita", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19636556", "url": "https://glygen.org/publication/PubMed/19636556" } ] }, { "title": "No major sex differences in muscle protein synthesis rates in the postabsorptive state and during hyperinsulinemia-hyperaminoacidemia in middle-aged adults.", "journal": "Journal of applied physiology (Bethesda, Md. : 1985)", "date": "2009", "authors": "Smith GI, Atherton P, Reeds DN, Mohammed BS, Jaffery H, Rankin D, Rennie MJ, Mittendorfer B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19644030", "url": "https://glygen.org/publication/PubMed/19644030" } ] }, { "title": "LY294002 enhances boswellic acid-induced apoptosis in colon cancer cells.", "journal": "Anticancer research", "date": "2009", "authors": "Liu JJ, Duan RD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19661305", "url": "https://glygen.org/publication/PubMed/19661305" } ] }, { "title": "Effect of 27-hydroxycholesterol on survival and death of human macrophages and vascular smooth muscle cells.", "journal": "Free radical research", "date": "2009-10", "authors": "Riendeau Val\u00e9rie, Garenc Christophe", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19672739", "url": "https://glygen.org/publication/PubMed/19672739" } ] }, { "title": "11beta-hydroxysteroid dehydrogenase type 1 regulates glucocorticoid-induced insulin resistance in skeletal muscle.", "journal": "Diabetes", "date": "2009", "authors": "Morgan SA, Sherlock M, Gathercole LL, Lavery GG, Lenaghan C, Bujalska IJ, Laber D, Yu A, Convey G, Mayers R, Hegyi K, Sethi JK, Stewart PM, Smith DM, Tomlinson JW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19675138", "url": "https://glygen.org/publication/PubMed/19675138" } ] }, { "title": "Mutation of the Rb1 pathway leads to overexpression of mTor, constitutive phosphorylation of Akt on serine 473, resistance to anoikis, and a block in c-Raf activation.", "journal": "Molecular and cellular biology", "date": "2009-11", "authors": "El-Naggar Shahenda, Liu Yongqing, Dean Douglas C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19703998", "url": "https://glygen.org/publication/PubMed/19703998" } ] }, { "title": "Inhibition of MIF leads to cell cycle arrest and apoptosis in pancreatic cancer cells.", "journal": "The Journal of surgical research", "date": "2010", "authors": "Denz A, Pilarsky C, Muth D, Ruckert F, Saeger HD, Grutzmann R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19726058", "url": "https://glygen.org/publication/PubMed/19726058" } ] }, { "title": "The NF-kappaB/AKT-dependent Induction of Wnt Signaling in Colon Cancer Cells by Macrophages and IL-1beta.", "journal": "Cancer microenvironment : official journal of the International Cancer Microenvironment Society", "date": "2009", "authors": "Kaler P, Godasi BN, Augenlicht L, Klampfer L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19779850", "url": "https://glygen.org/publication/PubMed/19779850" } ] }, { "title": "Modulation of PP2A activity by Jacalin: is it through caveolae and ER chaperones?", "journal": "Glycoconjugate journal", "date": "2010", "authors": "Ahmed N, Pany S, Rahman A, Srivastava SS, Sneh A, Krishnasastry MV", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19823931", "url": "https://glygen.org/publication/PubMed/19823931" } ] }, { "title": "Inhibitors of HSP90 block p95-HER2 signaling in Trastuzumab-resistant tumors and suppress their growth.", "journal": "Oncogene", "date": "2010-01-21", "authors": "Chandarlapaty S, Scaltriti M, Angelini P, Ye Q, Guzman M, Hudis C A, Norton L, Solit D B, Arribas J, Baselga J, Rosen N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19855434", "url": "https://glygen.org/publication/PubMed/19855434" } ] }, { "title": "PDK1 regulates chemotaxis in human neutrophils.", "journal": "Journal of dental research", "date": "2009-12", "authors": "Yagi M, Kantarci A, Iwata T, Omori K, Ayilavarapu S, Ito K, Hasturk H, Van Dyke T E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19892919", "url": "https://glygen.org/publication/PubMed/19892919" } ] }, { "title": "Stoichiometric quantification of Akt phosphorylation using LC-MS/MS.", "journal": "Journal of proteome research", "date": "2010-02-05", "authors": "Atrih Abdelmadjid, Turnock Dan, Sellar Grant, Thompson Alastair, Feuerstein Giora, Ferguson Michael A J, Huang Jeffrey T-J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19902931", "url": "https://glygen.org/publication/PubMed/19902931" } ] }, { "title": "Novel imidazolopyrimidines as dual PI3-Kinase/mTOR inhibitors.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2010-01-15", "authors": "Venkatesan Aranapakam M, Dehnhardt Christoph M, Chen Zecheng, Santos Efren Delos, Dos Santos Osvaldo, Bursavich Matthew, Gilbert Adam M, Ellingboe John W, Ayral-Kaloustian Semiramis, Khafizova Gulnaz, Brooijmans Natasja, Mallon Robert, Hollander Irwin, Feldberg Larry, Lucas Judy, Yu Ker, Gibbons Jay, Abraham Robert, Mansour Tarek S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19954970", "url": "https://glygen.org/publication/PubMed/19954970" } ] }, { "title": "Integrated Molecular and Clinical Analysis of AKT Activation in Metastatic Melanoma.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2009", "authors": "Davies MA, Stemke-Hale K, Lin E, Tellez C, Deng W, Gopal YN, Woodman SE, Calderone TC, Ju Z, Lazar AJ, Prieto VG, Aldape K, Mills GB, Gershenwald JE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19996208", "url": "https://glygen.org/publication/PubMed/19996208" } ] }, { "title": "Striatal Akt/GSK3 signaling pathway in the development of L-Dopa-induced dyskinesias in MPTP monkeys.", "journal": "Progress in neuro-psychopharmacology & biological psychiatry", "date": "2010", "authors": "Morissette M, Samadi P, Hadj Tahar A, Belanger N, Di Paolo T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20026151", "url": "https://glygen.org/publication/PubMed/20026151" } ] }, { "title": "T-cadherin modulates endothelial barrier function.", "journal": "Journal of cellular physiology", "date": "2010", "authors": "Andreeva AV, Han J, Kutuzov MA, Profirovic J, Tkachuk VA, Voyno-Yasenetskaya TA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20039275", "url": "https://glygen.org/publication/PubMed/20039275" } ] }, { "title": "P19 H-ras induces G1/S phase delay maintaining cells in a reversible quiescence state.", "journal": "PloS one", "date": "2009-12-30", "authors": "Camats Maria, Kokolo Mariette, Heesom Kate J, Ladomery Michael, Bach-Elias Montse", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20046837", "url": "https://glygen.org/publication/PubMed/20046837" } ] }, { "title": "A novel inhibitor of the PI3K/Akt pathway based on the structure of inositol 1,3,4,5,6-pentakisphosphate.", "journal": "British journal of cancer", "date": "2010", "authors": "Falasca M, Chiozzotto D, Godage HY, Mazzoletti M, Riley AM, Previdi S, Potter BV, Broggini M, Maffucci T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20051961", "url": "https://glygen.org/publication/PubMed/20051961" } ] }, { "title": "Akt Cys-310-targeted inhibition by hydroxylated benzene derivatives is tightly linked to their immunosuppressive effects.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Lee JY, Lee YG, Lee J, Yang KJ, Kim AR, Kim JY, Won MH, Park J, Yoo BC, Kim S, Cho WJ, Cho JY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20054000", "url": "https://glygen.org/publication/PubMed/20054000" } ] }, { "title": "Inhibition of Akt signaling by exclusion from lipid rafts in normal and transformed epidermal keratinocytes.", "journal": "The Journal of investigative dermatology", "date": "2010", "authors": "Calay D, Vind-Kezunovic D, Frankart A, Lambert S, Poumay Y, Gniadecki R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20054340", "url": "https://glygen.org/publication/PubMed/20054340" } ] }, { "title": "Regulation of Akt signaling activation by ubiquitination.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2010", "authors": "Yang WL, Wu CY, Wu J, Lin HK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20081374", "url": "https://glygen.org/publication/PubMed/20081374" } ] }, { "title": "Pharmacological manipulation of the akt signaling pathway regulates myxoma virus replication and tropism in human cancer cells.", "journal": "Journal of virology", "date": "2010", "authors": "Werden SJ, McFadden G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20106927", "url": "https://glygen.org/publication/PubMed/20106927" } ] }, { "title": "Full-length adiponectin attenuates insulin signaling and inhibits insulin-stimulated amino Acid transport in human primary trophoblast cells.", "journal": "Diabetes", "date": "2010", "authors": "Jones HN, Jansson T, Powell TL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20150288", "url": "https://glygen.org/publication/PubMed/20150288" } ] }, { "title": "Mammalian target of rapamycin is a biomarker of poor survival in metastatic serous ovarian carcinoma.", "journal": "Human pathology", "date": "2010", "authors": "Bunkholt Elstrand M, Dong HP, Odegaard E, Holth A, Elloul S, Reich R, Trope CG, Davidson B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20153512", "url": "https://glygen.org/publication/PubMed/20153512" } ] }, { "title": "Modulation in activation and expression of phosphatase and tensin homolog on chromosome ten, Akt1, and 3-phosphoinositide-dependent kinase 1: further evidence demonstrating altered phosphoinositide 3-kinase signaling in postmortem brain of suicide subjects.", "journal": "Biological psychiatry", "date": "2010", "authors": "Dwivedi Y, Rizavi HS, Zhang H, Roberts RC, Conley RR, Pandey GN", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20163786", "url": "https://glygen.org/publication/PubMed/20163786" } ] }, { "title": "Delineating genetic alterations for tumor progression in the MCF10A series of breast cancer cell lines.", "journal": "PloS one", "date": "2010", "authors": "Kadota M, Yang HH, Gomez B, Sato M, Clifford RJ, Meerzaman D, Dunn BK, Wakefield LM, Lee MP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20169162", "url": "https://glygen.org/publication/PubMed/20169162" } ] }, { "title": "REG IV overexpression in an early stage of colorectal carcinogenesis: an immunohistochemical study.", "journal": "Histology and histopathology", "date": "2010", "authors": "Li XH, Zheng Y, Zheng HC, Takahashi H, Yang XH, Masuda S, Takano Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20183800", "url": "https://glygen.org/publication/PubMed/20183800" } ] }, { "title": "Protein phosphatase-1 regulates Akt1 signal transduction pathway to control gene expression, cell survival and differentiation.", "journal": "Cell death and differentiation", "date": "2010", "authors": "Xiao L, Gong LL, Yuan D, Deng M, Zeng XM, Chen LL, Zhang L, Yan Q, Liu JP, Hu XH, Sun SM, Liu J, Ma HL, Zheng CB, Fu H, Chen PC, Zhao JQ, Xie SS, Zou LJ, Xiao YM, Liu WB, Zhang J, Liu Y, Li DW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20186153", "url": "https://glygen.org/publication/PubMed/20186153" } ] }, { "title": "DNA-PKcs plays a dominant role in the regulation of H2AX phosphorylation in response to DNA damage and cell cycle progression.", "journal": "BMC molecular biology", "date": "2010", "authors": "An J, Huang YC, Xu QZ, Zhou LJ, Shang ZF, Huang B, Wang Y, Liu XD, Wu DC, Zhou PK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20205745", "url": "https://glygen.org/publication/PubMed/20205745" } ] }, { "title": "Fat cell-specific ablation of rictor in mice impairs insulin-regulated fat cell and whole-body glucose and lipid metabolism.", "journal": "Diabetes", "date": "2010", "authors": "Kumar A, Lawrence JC Jr, Jung DY, Ko HJ, Keller SR, Kim JK, Magnuson MA, Harris TE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20332342", "url": "https://glygen.org/publication/PubMed/20332342" } ] }, { "title": "Bilobalide prevents apoptosis through activation of the PI3K/Akt pathway in SH-SY5Y cells.", "journal": "Apoptosis : an international journal on programmed cell death", "date": "2010", "authors": "Shi C, Wu F, Yew DT, Xu J, Zhu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20333467", "url": "https://glygen.org/publication/PubMed/20333467" } ] }, { "title": "Synthesis and SAR of novel 4-morpholinopyrrolopyrimidine derivatives as potent phosphatidylinositol 3-kinase inhibitors.", "journal": "Journal of medicinal chemistry", "date": "2010", "authors": "Chen Z, Venkatesan AM, Dehnhardt CM, Ayral-Kaloustian S, Brooijmans N, Mallon R, Feldberg L, Hollander I, Lucas J, Yu K, Kong F, Mansour TS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20334367", "url": "https://glygen.org/publication/PubMed/20334367" } ] }, { "title": "Interleukin-6 inhibits endothelial nitric oxide synthase activation and increases endothelial nitric oxide synthase binding to stabilized caveolin-1 in human vascular endothelial cells.", "journal": "Journal of hypertension", "date": "2010", "authors": "Hung MJ, Cherng WJ, Hung MY, Wu HT, Pang JH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20375905", "url": "https://glygen.org/publication/PubMed/20375905" } ] }, { "title": "Angiotensin II inhibits insulin-stimulated GLUT4 translocation and Akt activation through tyrosine nitration-dependent mechanisms.", "journal": "PloS one", "date": "2010", "authors": "Csibi A, Communi D, Muller N, Bottari SP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20383279", "url": "https://glygen.org/publication/PubMed/20383279" } ] }, { "title": "Teratocarcinoma-derived growth factor-1 is upregulated in aldosterone-producing adenomas and increases aldosterone secretion and inhibits apoptosis in vitro.", "journal": "Hypertension (Dallas, Tex. : 1979)", "date": "2010", "authors": "Williams TA, Monticone S, Morello F, Liew CC, Mengozzi G, Pilon C, Asioli S, Sapino A, Veglio F, Mulatero P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20385969", "url": "https://glygen.org/publication/PubMed/20385969" } ] }, { "title": "TWISTing stemness, inflammation and proliferation of epithelial ovarian cancer cells through MIR199A2/214.", "journal": "Oncogene", "date": "2010", "authors": "Yin G, Chen R, Alvero AB, Fu HH, Holmberg J, Glackin C, Rutherford T, Mor G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20400975", "url": "https://glygen.org/publication/PubMed/20400975" } ] }, { "title": "p53 Plays an important role in cell fate determination after exposure to microcystin-LR.", "journal": "Environmental health perspectives", "date": "2010", "authors": "Takumi S, Komatsu M, Furukawa T, Ikeda R, Sumizawa T, Akenaga H, Maeda Y, Aoyama K, Arizono K, Ando S, Takeuchi T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20421190", "url": "https://glygen.org/publication/PubMed/20421190" } ] }, { "title": "The masticatory contractile load induced expression and activation of Akt1/PKBalpha in muscle fibers at the myotendinous junction within muscle-tendon-bone unit.", "journal": "Journal of biomedicine & biotechnology", "date": "2010", "authors": "Korkmaz Y, Klinz FJ, Moghbeli M, Addicks K, Raab WH, Bloch W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20454577", "url": "https://glygen.org/publication/PubMed/20454577" } ] }, { "title": "Downregulation of caveolin-1 enhances fusion of human BeWo choriocarcinoma cells.", "journal": "PloS one", "date": "2010-05-06", "authors": "Collett Gavin P, Linton Elizabeth A, Redman Christopher W G, Sargent Ian L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20463894", "url": "https://glygen.org/publication/PubMed/20463894" } ] }, { "title": "The Akt activation inhibitor TCN-P inhibits Akt phosphorylation by binding to the PH domain of Akt and blocking its recruitment to the plasma membrane.", "journal": "Cell death and differentiation", "date": "2010", "authors": "Berndt N, Yang H, Trinczek B, Betzi S, Zhang Z, Wu B, Lawrence NJ, Pellecchia M, Schonbrunn E, Cheng JQ, Sebti SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5674400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5674400" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20489726", "url": "https://glygen.org/publication/PubMed/20489726" } ] }, { "title": "Apoptosis of stomach cancer cell SGC-7901 and regulation of Akt signaling way induced by bovine lactoferrin.", "journal": "Journal of dairy science", "date": "2010", "authors": "Xu XX, Jiang HR, Li HB, Zhang TN, Zhou Q, Liu N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20494139", "url": "https://glygen.org/publication/PubMed/20494139" } ] }, { "title": "Protein kinase B (PKB/Akt), a key mediator of the PI3K signaling pathway.", "journal": "Current topics in microbiology and immunology", "date": "2010", "authors": "Fayard E, Xue G, Parcellier A, Bozulic L, Hemmings BA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20517722", "url": "https://glygen.org/publication/PubMed/20517722" } ] }, { "title": "Epistatic and functional interactions of catechol-o-methyltransferase (COMT) and AKT1 on neuregulin1-ErbB signaling in cell models.", "journal": "PloS one", "date": "2010", "authors": "Sei Y, Li Z, Song J, Ren-Patterson R, Tunbridge EM, Iizuka Y, Inoue M, Alfonso BT, Beltaifa S, Nakai Y, Kolachana BS, Chen J, Weinberger DR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20520724", "url": "https://glygen.org/publication/PubMed/20520724" } ] }, { "title": "Epstein-Barr virus-encoded LMP2A induces an epithelial-mesenchymal transition and increases the number of side population stem-like cancer cells in nasopharyngeal carcinoma.", "journal": "PLoS pathogens", "date": "2010", "authors": "Kong QL, Hu LJ, Cao JY, Huang YJ, Xu LH, Liang Y, Xiong D, Guan S, Guo BH, Mai HQ, Chen QY, Zhang X, Li MZ, Shao JY, Qian CN, Xia YF, Song LB, Zeng YX, Zeng MS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20532215", "url": "https://glygen.org/publication/PubMed/20532215" } ] }, { "title": "GT1b-induced neurotoxicity is mediated by the Akt/GSK-3/tau signaling pathway but not caspase-3 in mesencephalic dopaminergic neurons.", "journal": "BMC neuroscience", "date": "2010", "authors": "Chung ES, Bok E, Sohn S, Lee YD, Baik HH, Jin BK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20540782", "url": "https://glygen.org/publication/PubMed/20540782" } ] }, { "title": "Dysregulation of the norepinephrine transporter sustains cortical hypodopaminergia and schizophrenia-like behaviors in neuronal rictor null mice.", "journal": "PLoS biology", "date": "2010", "authors": "Siuta MA, Robertson SD, Kocalis H, Saunders C, Gresch PJ, Khatri V, Shiota C, Kennedy JP, Lindsley CW, Daws LC, Polley DB, Veenstra-Vanderweele J, Stanwood GD, Magnuson MA, Niswender KD, Galli A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20543991", "url": "https://glygen.org/publication/PubMed/20543991" } ] }, { "title": "Mu-opioid receptors transiently activate the Akt-nNOS pathway to produce sustained potentiation of PKC-mediated NMDAR-CaMKII signaling.", "journal": "PloS one", "date": "2010", "authors": "Sanchez-Blazquez P, Rodriguez-Munoz M, Garzon J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20585660", "url": "https://glygen.org/publication/PubMed/20585660" } ] }, { "title": "PDK1 recruitment to the SHPS-1 signaling complex enhances insulin-like growth factor-i-stimulated AKT activation and vascular smooth muscle cell survival.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Shen X, Xi G, Radhakrishnan Y, Clemmons DR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20643654", "url": "https://glygen.org/publication/PubMed/20643654" } ] }, { "title": "Pathway-based identification of biomarkers for targeted therapeutics: personalized oncology with PI3K pathway inhibitors.", "journal": "Science translational medicine", "date": "2010", "authors": "Andersen JN, Sathyanarayanan S, Di Bacco A, Chi A, Zhang T, Chen AH, Dolinski B, Kraus M, Roberts B, Arthur W, Klinghoffer RA, Gargano D, Li L, Feldman I, Lynch B, Rush J, Hendrickson RC, Blume-Jensen P, Paweletz CP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20686178", "url": "https://glygen.org/publication/PubMed/20686178" } ] }, { "title": "TCR-induced Akt serine 473 phosphorylation is regulated by protein kinase C-alpha.", "journal": "Biochemical and biophysical research communications", "date": "2010-09-10", "authors": "Yang Lifen, Qiao Guilin, Ying Haiyan, Zhang Jian, Yin Fei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20691662", "url": "https://glygen.org/publication/PubMed/20691662" } ] }, { "title": "Discovery of small molecule inhibitors of the PH domain leucine-rich repeat protein phosphatase (PHLPP) by chemical and virtual screening.", "journal": "Journal of medicinal chemistry", "date": "2010", "authors": "Sierecki E, Sinko W, McCammon JA, Newton AC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20836557", "url": "https://glygen.org/publication/PubMed/20836557" } ] }, { "title": "Hepatic growth factor (HGF) inhibits cigarette smoke extract induced apoptosis in human bronchial epithelial cells.", "journal": "Experimental cell research", "date": "2010-12-10", "authors": "Togo Shinsaku, Sugiura Hisa, Nelson Amy, Kobayashi Tetsu, Wang Xingqi, Kamio Koh, Kawasaki Shin, Bitterman Peter, Rennard Stephen I, Liu Xiangde", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20850432", "url": "https://glygen.org/publication/PubMed/20850432" } ] }, { "title": "Salirasib inhibits the growth of hepatocarcinoma cell lines in vitro and tumor growth in vivo through ras and mTOR inhibition.", "journal": "Molecular cancer", "date": "2010", "authors": "Charette N, De Saeger C, Lannoy V, Horsmans Y, Leclercq I, Starkel P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20860815", "url": "https://glygen.org/publication/PubMed/20860815" } ] }, { "title": "AMPK-induced activation of Akt by AICAR is mediated by IGF-1R dependent and independent mechanisms in acute lymphoblastic leukemia.", "journal": "Journal of molecular signaling", "date": "2010", "authors": "Leclerc GM, Leclerc GJ, Fu G, Barredo JC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20863384", "url": "https://glygen.org/publication/PubMed/20863384" } ] }, { "title": "Impaired insulin-induced site-specific phosphorylation of TBC1 domain family, member 4 (TBC1D4) in skeletal muscle of type 2 diabetes patients is restored by endurance exercise-training.", "journal": "Diabetologia", "date": "2011", "authors": "Vind BF, Pehmoller C, Treebak JT, Birk JB, Hey-Mogensen M, Beck-Nielsen H, Zierath JR, Wojtaszewski JF, Hojlund K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20938636", "url": "https://glygen.org/publication/PubMed/20938636" } ] }, { "title": "The multikinase inhibitor Sorafenib displays significant antiproliferative effects and induces apoptosis via caspase 3, 7 and PARP in B- and T-lymphoblastic cells.", "journal": "BMC cancer", "date": "2010", "authors": "Schult C, Dahlhaus M, Ruck S, Sawitzky M, Amoroso F, Lange S, Etro D, Glass A, Fuellen G, Boldt S, Wolkenhauer O, Neri LM, Freund M, Junghanss C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20950443", "url": "https://glygen.org/publication/PubMed/20950443" } ] }, { "title": "Signaling pathways leading to phosphorylation of Akt and GSK-3beta by activation of cloned human and rat cerebral D(2)and D(3) receptors.", "journal": "Molecular pharmacology", "date": "2011", "authors": "Mannoury la Cour C, Salles MJ, Pasteau V, Millan MJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20952497", "url": "https://glygen.org/publication/PubMed/20952497" } ] }, { "title": "Alkylation of the tumor suppressor PTEN activates Akt and beta-catenin signaling: a mechanism linking inflammation and oxidative stress with cancer.", "journal": "PloS one", "date": "2010", "authors": "Covey TM, Edes K, Coombs GS, Virshup DM, Fitzpatrick FA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20975834", "url": "https://glygen.org/publication/PubMed/20975834" } ] }, { "title": "Dominant inhibition of Akt/protein kinase B signaling by the matrix protein of a negative-strand RNA virus.", "journal": "Journal of virology", "date": "2011", "authors": "Dunn EF, Connor JH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20980511", "url": "https://glygen.org/publication/PubMed/20980511" } ] }, { "title": "COX-2 activation is associated with Akt phosphorylation and poor survival in ER-negative, HER2-positive breast cancer.", "journal": "BMC cancer", "date": "2010", "authors": "Glynn SA, Prueitt RL, Ridnour LA, Boersma BJ, Dorsey TM, Wink DA, Goodman JE, Yfantis HG, Lee DH, Ambs S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21078168", "url": "https://glygen.org/publication/PubMed/21078168" } ] }, { "title": "Early endosomal antigen 1 (EEA1) is an obligate scaffold for angiotensin II-induced, PKC-alpha-dependent Akt activation in endosomes.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Nazarewicz RR, Salazar G, Patrushev N, San Martin A, Hilenski L, Xiong S, Alexander RW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21097843", "url": "https://glygen.org/publication/PubMed/21097843" } ] }, { "title": "Berberine inhibits inflammatory response and ameliorates insulin resistance in hepatocytes.", "journal": "Inflammation", "date": "2011-12", "authors": "Lou Tianjiong, Zhang Zhongai, Xi Zhilei, Liu Kang, Li Lin, Liu Baolin, Huang Fang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21110076", "url": "https://glygen.org/publication/PubMed/21110076" } ] }, { "title": "Amino acids activate mammalian target of rapamycin complex 2 (mTORC2) via PI3K/Akt signaling.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Tato I, Bartrons R, Ventura F, Rosa JL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21131356", "url": "https://glygen.org/publication/PubMed/21131356" } ] }, { "title": "Multiple roles for the non-coding RNA SRA in regulation of adipogenesis and insulin sensitivity.", "journal": "PloS one", "date": "2010", "authors": "Xu B, Gerin I, Miao H, Vu-Phan D, Johnson CN, Xu R, Chen XW, Cawthorn WP, MacDougald OA, Koenig RJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21152033", "url": "https://glygen.org/publication/PubMed/21152033" } ] }, { "title": "Failure of the adipocytokine, resistin, to protect the heart from ischemia-reperfusion injury.", "journal": "Journal of cardiovascular pharmacology and therapeutics", "date": "2011-03", "authors": "Smith Christopher C T, Lim Shiang Y, Wynne Abigail M, Sivaraman Vivek, Davidson Sean M, Mocanu Mihaela M, Hausenloy Derek J, Yellon Derek M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21183727", "url": "https://glygen.org/publication/PubMed/21183727" } ] }, { "title": "1, 9-Pyrazoloanthrones downregulate HIF-1\u03b1 and sensitize cancer cells to cetuximab-mediated anti-EGFR therapy.", "journal": "PloS one", "date": "2010-12-29", "authors": "Lu Yang, Li Xinqun, Lu Haiquan, Fan Zhen", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21209911", "url": "https://glygen.org/publication/PubMed/21209911" } ] }, { "title": "PI3K inhibition results in enhanced HER signaling and acquired ERK dependency in HER2-overexpressing breast cancer.", "journal": "Oncogene", "date": "2011", "authors": "Serra V, Scaltriti M, Prudkin L, Eichhorn PJ, Ibrahim YH, Chandarlapaty S, Markman B, Rodriguez O, Guzman M, Rodriguez S, Gili M, Russillo M, Parra JL, Singh S, Arribas J, Rosen N, Baselga J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21278786", "url": "https://glygen.org/publication/PubMed/21278786" } ] }, { "title": "Protein kinase B controls transcriptional programs that direct cytotoxic T cell fate but is dispensable for T cell metabolism.", "journal": "Immunity", "date": "2011", "authors": "Macintyre AN, Finlay D, Preston G, Sinclair LV, Waugh CM, Tamas P, Feijoo C, Okkenhaug K, Cantrell DA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21295499", "url": "https://glygen.org/publication/PubMed/21295499" } ] }, { "title": "Early activation of mTORC1 signalling in response to mechanical overload is independent of phosphoinositide 3-kinase/Akt signalling.", "journal": "The Journal of physiology", "date": "2011", "authors": "Miyazaki M, McCarthy JJ, Fedele MJ, Esser KA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21300751", "url": "https://glygen.org/publication/PubMed/21300751" } ] }, { "title": "Modification of Akt1 by methylglyoxal promotes the proliferation of vascular smooth muscle cells.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2011", "authors": "Chang T, Wang R, Olson DJ, Mousseau DD, Ross AR, Wu L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21321187", "url": "https://glygen.org/publication/PubMed/21321187" } ] }, { "title": "Loss of desmocollin-2 confers a tumorigenic phenotype to colonic epithelial cells through activation of Akt/beta-catenin signaling.", "journal": "Molecular biology of the cell", "date": "2011", "authors": "Kolegraff K, Nava P, Helms MN, Parkos CA, Nusrat A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21325624", "url": "https://glygen.org/publication/PubMed/21325624" } ] }, { "title": "The anti-apoptotic function of human alphaA-crystallin is directly related to its chaperone activity.", "journal": "Cell death & disease", "date": "2010", "authors": "Pasupuleti N, Matsuyama S, Voss O, Doseff AI, Song K, Danielpour D, Nagaraj RH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21364639", "url": "https://glygen.org/publication/PubMed/21364639" } ] }, { "title": "Phosphatidylserine is a critical modulator for Akt activation.", "journal": "The Journal of cell biology", "date": "2011", "authors": "Huang BX, Akbar M, Kevala K, Kim HY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21402788", "url": "https://glygen.org/publication/PubMed/21402788" } ] }, { "title": "Phosphatase and tensin homolog deleted on chromosome 10 (PTEN) inhibition by 4-hydroxynonenal leads to increased Akt activation in hepatocytes.", "journal": "Molecular pharmacology", "date": "2011", "authors": "Shearn CT, Smathers RL, Stewart BJ, Fritz KS, Galligan JJ, Hail N Jr, Petersen DR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21415306", "url": "https://glygen.org/publication/PubMed/21415306" } ] }, { "title": "Regulation of AKT phosphorylation at Ser473 and Thr308 by endoplasmic reticulum stress modulates substrate specificity in a severity dependent manner.", "journal": "PloS one", "date": "2011", "authors": "Yung HW, Charnock-Jones DS, Burton GJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21445305", "url": "https://glygen.org/publication/PubMed/21445305" } ] }, { "title": "Activated protein synthesis and suppressed protein breakdown signaling in skeletal muscle of critically ill patients.", "journal": "PloS one", "date": "2011-03-31", "authors": "Jespersen Jakob G, Nedergaard Anders, Reitelseder S\u00f8ren, Mikkelsen Ulla R, Dideriksen Kasper J, Agergaard Jakob, Kreiner Frederik, Pott Frank C, Schjerling Peter, Kjaer Michael", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21483870", "url": "https://glygen.org/publication/PubMed/21483870" } ] }, { "title": "Cell-type-specific regulation of raft-associated Akt signaling.", "journal": "Cell death & disease", "date": "2011-04-14", "authors": "Liu Y, Yang G, Bu X, Liu G, Ding J, Li P, Jia W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21490677", "url": "https://glygen.org/publication/PubMed/21490677" } ] }, { "title": "The alkylphospholipid, perifosine, radiosensitizes prostate cancer cells both in vitro and in vivo.", "journal": "Radiation oncology (London, England)", "date": "2011", "authors": "Gao Y, Ishiyama H, Sun M, Brinkman KL, Wang X, Zhu J, Mai W, Huang Y, Floryk D, Ittmann M, Thompson TC, Butler EB, Xu B, Teh BS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21496273", "url": "https://glygen.org/publication/PubMed/21496273" } ] }, { "title": "Akt phosphorylation on Thr308 but not on Ser473 correlates with Akt protein kinase activity in human non-small cell lung cancer.", "journal": "British journal of cancer", "date": "2011", "authors": "Vincent EE, Elder DJ, Thomas EC, Phillips L, Morgan C, Pawade J, Sohail M, May MT, Hetzel MR, Tavare JM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21505451", "url": "https://glygen.org/publication/PubMed/21505451" } ] }, { "title": "Thymosin-beta4 (Tbeta4) blunts PDGF-dependent phosphorylation and binding of AKT to actin in hepatic stellate cells.", "journal": "The American journal of pathology", "date": "2011", "authors": "Reyes-Gordillo K, Shah R, Popratiloff A, Fu S, Hindle A, Brody F, Rojkind M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21514425", "url": "https://glygen.org/publication/PubMed/21514425" } ] }, { "title": "GM3 suppresses anchorage-independent growth via Rho GDP dissociation inhibitor beta in melanoma B16 cells.", "journal": "Cancer science", "date": "2011", "authors": "Wang P, Xu S, Wang Y, Wu P, Zhang J, Sato T, Yamagata S, Yamagata T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21518140", "url": "https://glygen.org/publication/PubMed/21518140" } ] }, { "title": "Insulin and GH signaling in human skeletal muscle in vivo following exogenous GH exposure: impact of an oral glucose load.", "journal": "PloS one", "date": "2011-05-03", "authors": "Krusenstjerna-Hafstr\u00f8m Thomas, Madsen Michael, Vendelbo Mikkel H, Pedersen Steen B, Christiansen Jens S, M\u00f8ller Niels, Jessen Niels, J\u00f8rgensen Jens O L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21559284", "url": "https://glygen.org/publication/PubMed/21559284" } ] }, { "title": "New algorithm to determine true colocalization in combination with image restoration and time-lapse confocal microscopy to MAP kinases in mitochondria.", "journal": "PloS one", "date": "2011", "authors": "Villalta JI, Galli S, Iacaruso MF, Antico Arciuch VG, Poderoso JJ, Jares-Erijman EA, Pietrasanta LI", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21559502", "url": "https://glygen.org/publication/PubMed/21559502" } ] }, { "title": "[Effects of deguelin on proliferation and apoptosis of MCF-7 breast cancer cells by phosphatidylinositol 3-kinase/Akt signaling pathway].", "journal": "Zhong xi yi jie he xue bao = Journal of Chinese integrative medicine", "date": "2011", "authors": "Chu ZH, Liang XH, Zhou XL, Huang RF, Zhan Qz, Jiang JW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21565140", "url": "https://glygen.org/publication/PubMed/21565140" } ] }, { "title": "mTORC2 protein complex-mediated Akt (Protein Kinase B) Serine 473 Phosphorylation is not required for Akt1 activity in human platelets [corrected].", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Moore SF, Hunter RW, Hers I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21592956", "url": "https://glygen.org/publication/PubMed/21592956" } ] }, { "title": "Downregulation of cPLA2gamma expression inhibits EGF-induced chemotaxis of human breast cancer cells through Akt pathway.", "journal": "Biochemical and biophysical research communications", "date": "2011", "authors": "Tian G, Wang X, Zhang F, Geng H, Hou W, Chen L, Guo H, Zhang N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21600875", "url": "https://glygen.org/publication/PubMed/21600875" } ] }, { "title": "Sphingosine kinase 1 regulates the Akt/FOXO3a/Bim pathway and contributes to apoptosis resistance in glioma cells.", "journal": "PloS one", "date": "2011", "authors": "Guan H, Song L, Cai J, Huang Y, Wu J, Yuan J, Li J, Li M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21625639", "url": "https://glygen.org/publication/PubMed/21625639" } ] }, { "title": "Low expression of PP2A regulatory subunit B55alpha is associated with T308 phosphorylation of AKT and shorter complete remission duration in acute myeloid leukemia patients.", "journal": "Leukemia", "date": "2011", "authors": "Ruvolo PP, Qui YH, Coombes KR, Zhang N, Ruvolo VR, Borthakur G, Konopleva M, Andreeff M, Kornblau SM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21660042", "url": "https://glygen.org/publication/PubMed/21660042" } ] }, { "title": "Kinome siRNA-phosphoproteomic screen identifies networks regulating AKT signaling.", "journal": "Oncogene", "date": "2011", "authors": "Lu Y, Muller M, Smith D, Dutta B, Komurov K, Iadevaia S, Ruths D, Tseng JT, Yu S, Yu Q, Nakhleh L, Balazsi G, Donnelly J, Schurdak M, Morgan-Lappe S, Fesik S, Ram PT, Mills GB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21666717", "url": "https://glygen.org/publication/PubMed/21666717" } ] }, { "title": "A drug targeting only p110alpha can block phosphoinositide 3-kinase signalling and tumour growth in certain cell types.", "journal": "The Biochemical journal", "date": "2011", "authors": "Jamieson S, Flanagan JU, Kolekar S, Buchanan C, Kendall JD, Lee WJ, Rewcastle GW, Denny WA, Singh R, Dickson J, Baguley BC, Shepherd PR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21668414", "url": "https://glygen.org/publication/PubMed/21668414" } ] }, { "title": "Knockdown of MTDH sensitizes endometrial cancer cells to cell death induction by death receptor ligand TRAIL and HDAC inhibitor LBH589 co-treatment.", "journal": "PloS one", "date": "2011", "authors": "Meng Xiangbing, Brachova Pavla, Yang Shujie, Xiong Zhi, Zhang Yuping, Thiel Kristina W, Leslie Kimberly K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21687633", "url": "https://glygen.org/publication/PubMed/21687633" } ] }, { "title": "ER stress induces anabolic resistance in muscle cells through PKB-induced blockade of mTORC1.", "journal": "PloS one", "date": "2011", "authors": "Deldicque L, Bertrand L, Patton A, Francaux M, Baar K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21698202", "url": "https://glygen.org/publication/PubMed/21698202" } ] }, { "title": "Activation of Pak1/Akt/eNOS signaling following sphingosine-1-phosphate release as part of a mechanism protecting cardiomyocytes against ischemic cell injury.", "journal": "American journal of physiology. Heart and circulatory physiology", "date": "2011", "authors": "Egom EE, Mohamed TM, Mamas MA, Shi Y, Liu W, Chirico D, Stringer SE, Ke Y, Shaheen M, Wang T, Chacko S, Wang X, Solaro RJ, Fath-Ordoubadi F, Cartwright EJ, Lei M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21705677", "url": "https://glygen.org/publication/PubMed/21705677" } ] }, { "title": "AKT signalling in the failing heart.", "journal": "European journal of heart failure", "date": "2011", "authors": "Chaanine AH, Hajjar RJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21724622", "url": "https://glygen.org/publication/PubMed/21724622" } ] }, { "title": "Negative regulation of mTORC2 by glycogen synthase kinase-3beta: an adaptive process to stress with an anticancer therapeutic potential?", "journal": "Future oncology (London, England)", "date": "2011", "authors": "Koromilas AE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21732756", "url": "https://glygen.org/publication/PubMed/21732756" } ] }, { "title": "Effect of a chronic treatment with 17beta-estradiol on striatal dopamine neurotransmission and the Akt/GSK3 signaling pathway in the brain of ovariectomized monkeys.", "journal": "Psychoneuroendocrinology", "date": "2012", "authors": "Sanchez MG, Morissette M, Di Paolo T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21763075", "url": "https://glygen.org/publication/PubMed/21763075" } ] }, { "title": "Akt phosphorylation at Thr308 and Ser473 is required for CHIP-mediated ubiquitination of the kinase.", "journal": "Cellular signalling", "date": "2011", "authors": "Su CH, Wang CY, Lan KH, Li CP, Chao Y, Lin HC, Lee SD, Lee WP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21767636", "url": "https://glygen.org/publication/PubMed/21767636" } ] }, { "title": "GILZ inhibits the mTORC2/AKT pathway in BCR-ABL(+) cells.", "journal": "Oncogene", "date": "2012", "authors": "Joha S, Nugues AL, Hetuin D, Berthon C, Dezitter X, Dauphin V, Mahon FX, Roche-Lestienne C, Preudhomme C, Quesnel B, Idziorek T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21804606", "url": "https://glygen.org/publication/PubMed/21804606" } ] }, { "title": "Urban particulate matter activates Akt in human lung cells.", "journal": "Archives of toxicology", "date": "2012", "authors": "Watterson TL, Hamilton B, Martin RS, Coulombe RA Jr", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21818627", "url": "https://glygen.org/publication/PubMed/21818627" } ] }, { "title": "Endoplasmic reticulum is a main localization site of mTORC2.", "journal": "Biochemical and biophysical research communications", "date": "2011", "authors": "Boulbes DR, Shaiken T, Sarbassov dos D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21867682", "url": "https://glygen.org/publication/PubMed/21867682" } ] }, { "title": "Gambogenic acid-induced time- and dose-dependent growth inhibition and apoptosis involving Akt pathway inactivation in U251 glioblastoma cells.", "journal": "Journal of natural medicines", "date": "2012", "authors": "Chen HB, Zhou LZ, Mei L, Shi XJ, Wang XS, Li QL, Huang L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21879332", "url": "https://glygen.org/publication/PubMed/21879332" } ] }, { "title": "Knockdown of RON inhibits AP-1 activity and induces apoptosis and cell cycle arrest through the modulation of Akt/FoxO signaling in human colorectal cancer cells.", "journal": "Digestive diseases and sciences", "date": "2012", "authors": "Chung CY, Park YL, Song YA, Myung E, Kim KY, Lee GH, Ki HS, Park KJ, Cho SB, Lee WS, Jung YD, Kim KK, Joo YE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21901254", "url": "https://glygen.org/publication/PubMed/21901254" } ] }, { "title": "Disruption of the interface between the pleckstrin homology (PH) and kinase domains of Akt protein is sufficient for hydrophobic motif site phosphorylation in the absence of mTORC2.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Warfel NA, Niederst M, Newton AC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21908613", "url": "https://glygen.org/publication/PubMed/21908613" } ] }, { "title": "Mechanical regulation of glycogen synthase kinase 3beta (GSK3beta) in mesenchymal stem cells is dependent on Akt protein serine 473 phosphorylation via mTORC2 protein.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Case N, Thomas J, Sen B, Styner M, Xie Z, Galior K, Rubin J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21956113", "url": "https://glygen.org/publication/PubMed/21956113" } ] }, { "title": "Upregulation of TRB2 induced by miR-98 in the early lesions of large artery of type-2 diabetic rat.", "journal": "Molecular and cellular biochemistry", "date": "2012", "authors": "Xie S, Xie N, Li Y, Wang P, Zhang C, Li Q, Liu X, Deng J, Zhang C, Lv C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22012613", "url": "https://glygen.org/publication/PubMed/22012613" } ] }, { "title": "Resveratrol enhances prostate cancer cell response to ionizing radiation. Modulation of the AMPK, Akt and mTOR pathways.", "journal": "Radiation oncology (London, England)", "date": "2011", "authors": "Rashid A, Liu C, Sanli T, Tsiani E, Singh G, Bristow RG, Dayes I, Lukka H, Wright J, Tsakiridis T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22029423", "url": "https://glygen.org/publication/PubMed/22029423" } ] }, { "title": "Resistance of Akt kinases to dephosphorylation through ATP-dependent conformational plasticity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Chan TO, Zhang J, Rodeck U, Pascal JM, Armen RS, Spring M, Dumitru CD, Myers V, Li X, Cheung JY, Feldman AM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22031698", "url": "https://glygen.org/publication/PubMed/22031698" } ] }, { "title": "A mechanism for synergy with combined mTOR and PI3 kinase inhibitors.", "journal": "PloS one", "date": "2011", "authors": "Yang S, Xiao X, Meng X, Leslie KK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22039466", "url": "https://glygen.org/publication/PubMed/22039466" } ] }, { "title": "The prognostic impact of Akt isoforms, PI3K and PTEN related to female steroid hormone receptors in soft tissue sarcomas.", "journal": "Journal of translational medicine", "date": "2011", "authors": "Valkov A, Kilvaer TK, Sorbye SW, Donnem T, Smeland E, Bremnes RM, Busund LT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22107784", "url": "https://glygen.org/publication/PubMed/22107784" } ] }, { "title": "S6K1 and 4E-BP1 are independent regulated and control cellular growth in bladder cancer.", "journal": "PloS one", "date": "2011", "authors": "Nawroth R, Stellwagen F, Schulz WA, Stoehr R, Hartmann A, Krause BJ, Gschwend JE, Retz M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22110663", "url": "https://glygen.org/publication/PubMed/22110663" } ] }, { "title": "Androgen Receptor Enhances p27 Degradation in Prostate Cancer Cells through Rapid and Selective TORC2 Activation.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Fang Z, Zhang T, Dizeyi N, Chen S, Wang H, Swanson KD, Cai C, Balk SP, Yuan X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22139837", "url": "https://glygen.org/publication/PubMed/22139837" } ] }, { "title": "mTOR kinase inhibition causes feedback-dependent biphasic regulation of AKT signaling.", "journal": "Cancer discovery", "date": "2011-08", "authors": "Rodrik-Outmezguine Vanessa S, Chandarlapaty Sarat, Pagano Nen C, Poulikakos Poulikos I, Scaltriti Maurizio, Moskatel Elizabeth, Baselga Jos\u00e9, Guichard Sylvie, Rosen Neal", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22140653", "url": "https://glygen.org/publication/PubMed/22140653" } ] }, { "title": "CaM kinase control of AKT and LNCaP cell survival.", "journal": "Journal of cellular biochemistry", "date": "2012", "authors": "Schmitt JM, Smith S, Hart B, Fletcher L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22173970", "url": "https://glygen.org/publication/PubMed/22173970" } ] }, { "title": "Unrestrained mammalian target of rapamycin complexes 1 and 2 increase expression of phosphatase and tensin homolog deleted on chromosome 10 to regulate phosphorylation of Akt kinase.", "journal": "The Journal of biological chemistry", "date": "2012-02-03", "authors": "Das Falguni, Ghosh-Choudhury Nandini, Dey Nirmalya, Mandal Chandi Charan, Mahimainathan Lenin, Kasinath Balakuntalam S, Abboud Hanna E, Choudhury Goutam Ghosh", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22184110", "url": "https://glygen.org/publication/PubMed/22184110" } ] }, { "title": "Amplification and demultiplexing in insulin-regulated Akt protein kinase pathway in adipocytes.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Tan SX, Ng Y, Meoli CC, Kumar A, Khoo PS, Fazakerley DJ, Junutula JR, Vali S, James DE, Stockli J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22207758", "url": "https://glygen.org/publication/PubMed/22207758" } ] }, { "title": "Downregulation of Id1 by small interfering RNA in gastric cancer inhibits cell growth via the Akt pathway.", "journal": "Molecular medicine reports", "date": "2012", "authors": "Yang G, Zhang Y, Xiong J, Wu J, Yang C, Huang H, Zhu Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22245935", "url": "https://glygen.org/publication/PubMed/22245935" } ] }, { "title": "Will PI3K pathway inhibitors be effective as single agents in patients with cancer?", "journal": "Oncotarget", "date": "2011", "authors": "Garrett JT, Chakrabarty A, Arteaga CL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22248929", "url": "https://glygen.org/publication/PubMed/22248929" } ] }, { "title": "Inhibition of tumor cell growth, proliferation and migration by X-387, a novel active-site inhibitor of mTOR.", "journal": "Biochemical pharmacology", "date": "2012-05-01", "authors": "Chen Si-meng, Liu Jia-li, Wang Xiang, Liang Chris, Ding Jian, Meng Ling-hua", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22305748", "url": "https://glygen.org/publication/PubMed/22305748" } ] }, { "title": "Hyperglycaemia normalises insulin action on glucose metabolism but not the impaired activation of AKT and glycogen synthase in the skeletal muscle of patients with type 2 diabetes.", "journal": "Diabetologia", "date": "2012", "authors": "Vind BF, Birk JB, Vienberg SG, Andersen B, Beck-Nielsen H, Wojtaszewski JF, Hojlund K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22322917", "url": "https://glygen.org/publication/PubMed/22322917" } ] }, { "title": "Differential activation of signaling pathways by UVA and UVB radiation in normal human epidermal keratinocytes.", "journal": "Photochemistry and photobiology", "date": "2012", "authors": "Syed DN, Afaq F, Mukhtar H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22335604", "url": "https://glygen.org/publication/PubMed/22335604" } ] }, { "title": "Synemin promotes AKT-dependent glioblastoma cell proliferation by antagonizing PP2A.", "journal": "Molecular biology of the cell", "date": "2012", "authors": "Pitre A, Davis N, Paul M, Orr AW, Skalli O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22337773", "url": "https://glygen.org/publication/PubMed/22337773" } ] }, { "title": "Caffeic acid phenethyl ester causes p21 induction, Akt signaling reduction, and growth inhibition in PC-3 human prostate cancer cells.", "journal": "PloS one", "date": "2012", "authors": "Lin HP, Jiang SS, Chuu CP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22347457", "url": "https://glygen.org/publication/PubMed/22347457" } ] }, { "title": "Activation of the PI3K/AKT pathway in Merkel cell carcinoma.", "journal": "PloS one", "date": "2012", "authors": "Hafner C, Houben R, Baeurle A, Ritter C, Schrama D, Landthaler M, Becker JC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22363598", "url": "https://glygen.org/publication/PubMed/22363598" } ] }, { "title": "The endosomal adaptor protein APPL1 impairs the turnover of leading edge adhesions to regulate cell migration.", "journal": "Molecular biology of the cell", "date": "2012", "authors": "Broussard JA, Lin WH, Majumdar D, Anderson B, Eason B, Brown CM, Webb DJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22379109", "url": "https://glygen.org/publication/PubMed/22379109" } ] }, { "title": "GLUT4 and glycogen synthase are key players in bed rest-induced insulin resistance.", "journal": "Diabetes", "date": "2012", "authors": "Bienso RS, Ringholm S, Kiilerich K, Aachmann-Andersen NJ, Krogh-Madsen R, Guerra B, Plomgaard P, van Hall G, Treebak JT, Saltin B, Lundby C, Calbet JA, Pilegaard H, Wojtaszewski JF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22403297", "url": "https://glygen.org/publication/PubMed/22403297" } ] }, { "title": "Optimal induction of myeloma cell death requires dual blockade of phosphoinositide 3-kinase and mTOR signalling and is determined by translocation subtype.", "journal": "Leukemia", "date": "2012", "authors": "Stengel C, Cheung CW, Quinn J, Yong K, Khwaja A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22415553", "url": "https://glygen.org/publication/PubMed/22415553" } ] }, { "title": "PIK3CA/PTEN mutations and Akt activation as markers of sensitivity to allosteric mTOR inhibitors.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2012", "authors": "Meric-Bernstam F, Akcakanat A, Chen H, Do KA, Sangai T, Adkins F, Gonzalez-Angulo AM, Rashid A, Crosby K, Dong M, Phan AT, Wolff RA, Gupta S, Mills GB, Yao J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22422409", "url": "https://glygen.org/publication/PubMed/22422409" } ] }, { "title": "Thioridazine induces apoptosis by targeting the PI3K/Akt/mTOR pathway in cervical and endometrial cancer cells.", "journal": "Apoptosis : an international journal on programmed cell death", "date": "2012", "authors": "Kang S, Dong SM, Kim BR, Park MS, Trink B, Byun HJ, Rho SB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22460505", "url": "https://glygen.org/publication/PubMed/22460505" } ] }, { "title": "Vital roles of mTOR complex 2 in Notch-driven thymocyte differentiation and leukemia.", "journal": "The Journal of experimental medicine", "date": "2012", "authors": "Lee K, Nam KT, Cho SH, Gudapati P, Hwang Y, Park DS, Potter R, Chen J, Volanakis E, Boothby M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22473959", "url": "https://glygen.org/publication/PubMed/22473959" } ] }, { "title": "Akt/PKB controls the activity-dependent bulk endocytosis of synaptic vesicles.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2012", "authors": "Smillie KJ, Cousin MA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22487004", "url": "https://glygen.org/publication/PubMed/22487004" } ] }, { "title": "Specific roles of Akt iso forms in apoptosis and axon growth regulation in neurons.", "journal": "PloS one", "date": "2012", "authors": "Diez H, Garrido JJ, Wandosell F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22509246", "url": "https://glygen.org/publication/PubMed/22509246" } ] }, { "title": "The signaling mechanisms mediating the inhibitory effect of TCH-1116 on formyl peptide-stimulated superoxide anion generation in neutrophils.", "journal": "European journal of pharmacology", "date": "2012", "authors": "Tsai YR, Huang LJ, Lee MR, Chen YL, Kuo SC, Tzeng CC, Hsu MF, Wang JP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22510297", "url": "https://glygen.org/publication/PubMed/22510297" } ] }, { "title": "Ataxin-1 poly(Q)-induced proteotoxic stress and apoptosis are attenuated in neural cells by docosahexaenoic acid-derived neuroprotectin D1.", "journal": "The Journal of biological chemistry", "date": "2012-07-06", "authors": "Calandria Jorgelina M, Mukherjee Pranab K, de Rivero Vaccari Juan Carlos, Zhu Min, Petasis Nicos A, Bazan Nicolas G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22511762", "url": "https://glygen.org/publication/PubMed/22511762" } ] }, { "title": "GRP78 knockdown enhances apoptosis via the down-regulation of oxidative stress and Akt pathway after epirubicin treatment in colon cancer DLD-1 cells.", "journal": "PloS one", "date": "2012", "authors": "Chang YJ, Huang YP, Li ZL, Chen CH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22529978", "url": "https://glygen.org/publication/PubMed/22529978" } ] }, { "title": "AKT/mTOR as Novel Targets of Polyphenol Piceatannol Possibly Contributing to Inhibition of Proliferation of Cultured Prostate Cancer Cells.", "journal": "ISRN urology", "date": "2012", "authors": "Hsieh TC, Lin CY, Lin HY, Wu JM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22567414", "url": "https://glygen.org/publication/PubMed/22567414" } ] }, { "title": "An ATP-site on-off switch that restricts phosphatase accessibility of Akt.", "journal": "Science signaling", "date": "2012", "authors": "Lin K, Lin J, Wu WI, Ballard J, Lee BB, Gloor SL, Vigers GP, Morales TH, Friedman LS, Skelton N, Brandhuber BJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22569334", "url": "https://glygen.org/publication/PubMed/22569334" } ] }, { "title": "microRNA-21 governs TORC1 activation in renal cancer cell proliferation and invasion.", "journal": "PloS one", "date": "2012", "authors": "Dey N, Das F, Ghosh-Choudhury N, Mandal CC, Parekh DJ, Block K, Kasinath BS, Abboud HE, Choudhury GG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22685542", "url": "https://glygen.org/publication/PubMed/22685542" } ] }, { "title": "A marine anthraquinone SZ-685C overrides adriamycin-resistance in breast cancer cells through suppressing Akt signaling.", "journal": "Marine drugs", "date": "2012", "authors": "Zhu X, He Z, Wu J, Yuan J, Wen W, Hu Y, Jiang Y, Lin C, Zhang Q, Lin M, Zhang H, Yang W, Chen H, Zhong L, She Z, Chen S, Lin Y, Li M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22690138", "url": "https://glygen.org/publication/PubMed/22690138" } ] }, { "title": "Brain-derived neurotrophic factor activation of CaM-kinase kinase via transient receptor potential canonical channels induces the translation and synaptic incorporation of GluA1-containing calcium-permeable AMPA receptors.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2012-06-13", "authors": "Fortin Dale A, Srivastava Taasin, Dwarakanath Diya, Pierre Philippe, Nygaard Sean, Derkach Victor A, Soderling Thomas R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22699894", "url": "https://glygen.org/publication/PubMed/22699894" } ] }, { "title": "Arsenic trioxide induces G2/M arrest in hepatocellular carcinoma cells by increasing the tumor suppressor PTEN expression.", "journal": "Journal of cellular biochemistry", "date": "2012", "authors": "Zhang X, Jia S, Yang S, Yang Y, Yang T, Yang Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22730174", "url": "https://glygen.org/publication/PubMed/22730174" } ] }, { "title": "Functional switching of ATM: sensor of DNA damage in proliferating cells and mediator of Akt survival signal in post-mitotic human neuron-like cells.", "journal": "Chinese journal of cancer", "date": "2012", "authors": "Li Y, Xiong H, Yang DQ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22739265", "url": "https://glygen.org/publication/PubMed/22739265" } ] }, { "title": "TGF-beta1 induces tissue factor expression in human lung fibroblasts in a PI3K/JNK/Akt-dependent and AP-1-dependent manner.", "journal": "American journal of respiratory cell and molecular biology", "date": "2012", "authors": "Wygrecka M, Zakrzewicz D, Taborski B, Didiasova M, Kwapiszewska G, Preissner KT, Markart P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22771387", "url": "https://glygen.org/publication/PubMed/22771387" } ] }, { "title": "Palmitate contributes to insulin resistance through downregulation of the Src-mediated phosphorylation of Akt in C2C12 myotubes.", "journal": "Bioscience, biotechnology, and biochemistry", "date": "2012", "authors": "Feng Xiao-Tao, Wang Tian-Zhan, Leng Jing, Chen Yi, Liu Ji-Bo, Liu Yi, Wang Wen-Jian", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22785470", "url": "https://glygen.org/publication/PubMed/22785470" } ] }, { "title": "The monoclonal antibody CH12 enhances the sorafenib-mediated growth inhibition of hepatocellular carcinoma xenografts expressing epidermal growth factor receptor variant III.", "journal": "Neoplasia (New York, N.Y.)", "date": "2012", "authors": "Yang Y, Jiang H, Gao H, Kong J, Zhang P, Hu S, Shi B, Zhang P, Yao M, Li Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22787432", "url": "https://glygen.org/publication/PubMed/22787432" } ] }, { "title": "Distinct roles of AKT isoforms in regulating beta1-integrin activity, migration, and invasion in prostate cancer.", "journal": "Molecular biology of the cell", "date": "2012", "authors": "Virtakoivu R, Pellinen T, Rantala JK, Perala M, Ivaska J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22809628", "url": "https://glygen.org/publication/PubMed/22809628" } ] }, { "title": "Inhibition of phosphodiesterase-4 (PDE4) activity triggers luminal apoptosis and AKT dephosphorylation in a 3-D colonic-crypt model.", "journal": "Molecular cancer", "date": "2012", "authors": "Tsunoda T, Ota T, Fujimoto T, Doi K, Tanaka Y, Yoshida Y, Ogawa M, Matsuzaki H, Hamabashiri M, Tyson DR, Kuroki M, Miyamoto S, Shirasawa S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22830422", "url": "https://glygen.org/publication/PubMed/22830422" } ] }, { "title": "Constitutive phosphorylation of the mTORC2/Akt/4E-BP1 pathway in newly derived canine hemangiosarcoma cell lines.", "journal": "BMC veterinary research", "date": "2012", "authors": "Murai A, Asa SA, Kodama A, Hirata A, Yanai T, Sakai H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22839755", "url": "https://glygen.org/publication/PubMed/22839755" } ] }, { "title": "Study of transforming growth factor alpha for the maintenance of human embryonic stem cells.", "journal": "Cell and tissue research", "date": "2012-11", "authors": "Chen Andy C H, Lee Y L, Hou Denise Y C, Fong S W, Peng Qian, Pang Ronald T K, Chiu Phillip C N, Ho P C, Lee Kai-Fai, Yeung William S B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22864984", "url": "https://glygen.org/publication/PubMed/22864984" } ] }, { "title": "Promoter methylation status of HIN-1 associated with outcomes of ovarian clear cell adenocarcinoma.", "journal": "Molecular cancer", "date": "2012", "authors": "Ho CM, Huang CJ, Huang CY, Wu YY, Chang SF, Cheng WF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22871047", "url": "https://glygen.org/publication/PubMed/22871047" } ] }, { "title": "BRAFV600E negatively regulates the AKT pathway in melanoma cell lines.", "journal": "PloS one", "date": "2012", "authors": "Chen B, Tardell C, Higgins B, Packman K, Boylan JF, Niu H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22880048", "url": "https://glygen.org/publication/PubMed/22880048" } ] }, { "title": "Piperine, a dietary phytochemical, inhibits angiogenesis.", "journal": "The Journal of nutritional biochemistry", "date": "2013", "authors": "Doucette CD, Hilchie AL, Liwski R, Hoskin DW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22902327", "url": "https://glygen.org/publication/PubMed/22902327" } ] }, { "title": "Mammalian PER2 regulates AKT activation and DNA damage response.", "journal": "Biochemistry and cell biology = Biochimie et biologie cellulaire", "date": "2012", "authors": "Yang X, He X, Yang Z, Jabbari E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22905719", "url": "https://glygen.org/publication/PubMed/22905719" } ] }, { "title": "Dopamine D2 receptor-mediated Akt/PKB signalling: initiation by the D2S receptor and role in quinpirole-induced behavioural activation.", "journal": "ASN neuro", "date": "2012", "authors": "Chen HT, Ruan NY, Chen JC, Lin TY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22909302", "url": "https://glygen.org/publication/PubMed/22909302" } ] }, { "title": "Identification of the amino acids 300-600 of IRS-2 as 14-3-3 binding region with the importance of IGF-1/insulin-regulated phosphorylation of Ser-573.", "journal": "PloS one", "date": "2012", "authors": "Neukamm SS, Toth R, Morrice N, Campbell DG, Mackintosh C, Lehmann R, Haering HU, Schleicher ED, Weigert C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22912850", "url": "https://glygen.org/publication/PubMed/22912850" } ] }, { "title": "The inflammatory chemokine CXC motif ligand 16 triggers platelet activation and adhesion via CXC motif receptor 6-dependent phosphatidylinositide 3-kinase/Akt signaling.", "journal": "Circulation research", "date": "2012", "authors": "Borst O, Munzer P, Gatidis S, Schmidt EM, Schonberger T, Schmid E, Towhid ST, Stellos K, Seizer P, May AE, Lang F, Gawaz M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22927331", "url": "https://glygen.org/publication/PubMed/22927331" } ] }, { "title": "Nitric oxide synthase and breast cancer: role of TIMP-1 in NO-mediated Akt activation.", "journal": "PloS one", "date": "2012", "authors": "Ridnour LA, Barasch KM, Windhausen AN, Dorsey TH, Lizardo MM, Yfantis HG, Lee DH, Switzer CH, Cheng RY, Heinecke JL, Brueggemann E, Hines HB, Khanna C, Glynn SA, Ambs S, Wink DA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22957045", "url": "https://glygen.org/publication/PubMed/22957045" } ] }, { "title": "Syndecan 4 regulation of PDK1-dependent Akt activation.", "journal": "Cellular signalling", "date": "2013", "authors": "Ju R, Simons M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22975683", "url": "https://glygen.org/publication/PubMed/22975683" } ] }, { "title": "Akt is efficiently activated by PIF-pocket- and PtdIns(3,4,5)P3-dependent mechanisms leading to resistance to PDK1 inhibitors.", "journal": "The Biochemical journal", "date": "2012", "authors": "Najafov A, Shpiro N, Alessi DR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23030823", "url": "https://glygen.org/publication/PubMed/23030823" } ] }, { "title": "PKA and GAB2 play central roles in the FSH signaling pathway to PI3K and AKT in ovarian granulosa cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Hunzicker-Dunn ME, Lopez-Biladeau B, Law NC, Fiedler SE, Carr DW, Maizels ET", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23045700", "url": "https://glygen.org/publication/PubMed/23045700" } ] }, { "title": "VAMP-associated protein B (VAPB) promotes breast tumor growth by modulation of Akt activity.", "journal": "PloS one", "date": "2012", "authors": "Rao M, Song W, Jiang A, Shyr Y, Lev S, Greenstein D, Brantley-Sieders D, Chen J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23049696", "url": "https://glygen.org/publication/PubMed/23049696" } ] }, { "title": "In vitro silencing of the insulin receptor attenuates cellular accumulation of fibronectin in renal mesangial cells.", "journal": "Cell communication and signaling : CCS", "date": "2012-10-12", "authors": "Yano Naohiro, Suzuki Daisuke, Endoh Masayuki, Zhang Weizhi, Xu Yan Chun, Padbury James F, Tseng Yi-Tang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23061721", "url": "https://glygen.org/publication/PubMed/23061721" } ] }, { "title": "Regulation of NF-kappaB activation through a novel PI-3K-independent and PKA/Akt-dependent pathway in human umbilical vein endothelial cells.", "journal": "PloS one", "date": "2012", "authors": "Balwani S, Chaudhuri R, Nandi D, Jaisankar P, Agrawal A, Ghosh B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23071583", "url": "https://glygen.org/publication/PubMed/23071583" } ] }, { "title": "Non-canonical Smads phosphorylation induced by the glutamate release inhibitor, riluzole, through GSK3 activation in melanoma.", "journal": "PloS one", "date": "2012", "authors": "Abushahba W, Olabisi OO, Jeong BS, Boregowda RK, Wen Y, Liu F, Goydos JS, Lasfar A, Cohen-Solal KA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23077590", "url": "https://glygen.org/publication/PubMed/23077590" } ] }, { "title": "Inhibition of constitutive Akt (PKB) phosphorylation by docosahexaenoic acid in the human breast cancer cell line MDA-MB-453.", "journal": "Biochimica et biophysica acta", "date": "2013", "authors": "Sato SB, Park J, Kawamoto J, Sato S, Kurihara T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23085420", "url": "https://glygen.org/publication/PubMed/23085420" } ] }, { "title": "Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.", "journal": "Human molecular genetics", "date": "2013", "authors": "Rios JJ, Paria N, Burns DK, Israel BA, Cornelia R, Wise CA, Ezaki M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23100325", "url": "https://glygen.org/publication/PubMed/23100325" } ] }, { "title": "Targeting 3-phosphoinoside-dependent kinase-1 to inhibit insulin-like growth factor-I induced AKT and p70 S6 kinase activation in breast cancer cells.", "journal": "PloS one", "date": "2012", "authors": "Baxi SM, Tan W, Murphy ST, Smeal T, Yin MJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23119004", "url": "https://glygen.org/publication/PubMed/23119004" } ] }, { "title": "Okadaic acid induces Akt hyperphosphorylation and an oxidative stress-mediated cell death in serum starved SK-N-SH human neuroblastoma cells that are augmented by rapamycin.", "journal": "Neuroscience letters", "date": "2012-12-07", "authors": "Edelstein Jacob, Rockwell Patricia", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23127854", "url": "https://glygen.org/publication/PubMed/23127854" } ] }, { "title": "Ophiopogonin B-induced autophagy in non-small cell lung cancer cells via inhibition of the PI3K/Akt signaling pathway.", "journal": "Oncology reports", "date": "2013", "authors": "Chen M, Du Y, Qui M, Wang M, Chen K, Huang Z, Jiang M, Xiong F, Chen J, Zhou J, Jiang F, Yin L, Tang Y, Ye L, Zhan Z, Duan JAlpha, Fu HAlpha, Zhang X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23151908", "url": "https://glygen.org/publication/PubMed/23151908" } ] }, { "title": "Transforming growth factor alpha (TGFalpha) regulates granulosa cell tumor (GCT) cell proliferation and migration through activation of multiple pathways.", "journal": "PloS one", "date": "2012", "authors": "Wang C, Lv X, Jiang C, Cordes CM, Fu L, Lele SM, Davis JS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23155381", "url": "https://glygen.org/publication/PubMed/23155381" } ] }, { "title": "Activation of serum/glucocorticoid-induced kinase 1 (SGK1) is important to maintain skeletal muscle homeostasis and prevent atrophy.", "journal": "EMBO molecular medicine", "date": "2013-01", "authors": "Andres-Mateos Eva, Brinkmeier Heinrich, Burks Tyesha N, Mejias Rebeca, Files Daniel C, Steinberger Martin, Soleimani Arshia, Marx Ruth, Simmers Jessica L, Lin Benjamin, Finanger Hedderick Erika, Marr Tom G, Lin Brian M, Hourd\u00e9 Christophe, Leinwand Leslie A, Kuhl Dietmar, F\u00f6ller Michael, Vogelsang Silke, Hernandez-Diaz Ivan, Vaughan Dana K, Alvarez de la Rosa Diego, Lang Florian, Cohn Ronald D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23161797", "url": "https://glygen.org/publication/PubMed/23161797" } ] }, { "title": "Combined targeting of AKT and mTOR synergistically inhibits proliferation of hepatocellular carcinoma cells.", "journal": "Molecular cancer", "date": "2012", "authors": "Grabinski N, Ewald F, Hofmann BT, Staufer K, Schumacher U, Nashan B, Jucker M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23167739", "url": "https://glygen.org/publication/PubMed/23167739" } ] }, { "title": "NOD1 activation induces innate immune responses and insulin resistance in human adipocytes.", "journal": "Diabetes & metabolism", "date": "2012", "authors": "Zhou YJ, Zhou H, Li Y, Song YL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23182460", "url": "https://glygen.org/publication/PubMed/23182460" } ] }, { "title": "PDK1 regulation of mTOR and hypoxia-inducible factor 1 integrate metabolism and migration of CD8+ T cells.", "journal": "The Journal of experimental medicine", "date": "2012-12-17", "authors": "Finlay David K, Rosenzweig Ella, Sinclair Linda V, Feijoo-Carnero Carmen, Hukelmann Jens L, Rolf Julia, Panteleyev Andrey A, Okkenhaug Klaus, Cantrell Doreen A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23183047", "url": "https://glygen.org/publication/PubMed/23183047" } ] }, { "title": "Activation of GABA(B) receptors inhibits protein kinase B/glycogen synthase kinase 3 signaling.", "journal": "Molecular brain", "date": "2012", "authors": "Lu FF, Su P, Liu F, Daskalakis ZJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23192081", "url": "https://glygen.org/publication/PubMed/23192081" } ] }, { "title": "Functional analysis of non-hotspot AKT1 mutants found in human breast cancers identifies novel driver mutations: implications for personalized medicine.", "journal": "Oncotarget", "date": "2013-01", "authors": "Yi Kyung H, Axtmayer Jossette, Gustin John P, Rajpurohit Anandita, Lauring Josh", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23237847", "url": "https://glygen.org/publication/PubMed/23237847" } ] }, { "title": "Apolipoprotein(a) stimulates nuclear translocation of beta-catenin: a novel pathogenic mechanism for lipoprotein(a).", "journal": "Molecular biology of the cell", "date": "2013", "authors": "Cho T, Romagnuolo R, Scipione C, Boffa MB, Koschinsky ML", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23243000", "url": "https://glygen.org/publication/PubMed/23243000" } ] }, { "title": "Absence of signaling into CD4(+) cells via C3aR and C5aR enables autoinductive TGF-beta1 signaling and induction of Foxp3(+) regulatory T cells.", "journal": "Nature immunology", "date": "2013", "authors": "Strainic MG, Shevach EM, An F, Lin F, Medof ME", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23263555", "url": "https://glygen.org/publication/PubMed/23263555" } ] }, { "title": "Receptor-recognized alpha(2)-macroglobulin binds to cell surface-associated GRP78 and activates mTORC1 and mTORC2 signaling in prostate cancer cells.", "journal": "PloS one", "date": "2012", "authors": "Misra UK, Pizzo SV", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23272152", "url": "https://glygen.org/publication/PubMed/23272152" } ] }, { "title": "Electrical stimuli release ATP to increase GLUT4 translocation and glucose uptake via PI3Kgamma-Akt-AS160 in skeletal muscle cells.", "journal": "Diabetes", "date": "2013", "authors": "Osorio-Fuentealba C, Contreras-Ferrat AE, Altamirano F, Espinosa A, Li Q, Niu W, Lavandero S, Klip A, Jaimovich E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23274898", "url": "https://glygen.org/publication/PubMed/23274898" } ] }, { "title": "Green tea polyphenols induce p53-dependent and p53-independent apoptosis in prostate cancer cells through two distinct mechanisms.", "journal": "PloS one", "date": "2012", "authors": "Gupta K, Thakur VS, Bhaskaran N, Nawab A, Babcook MA, Jackson MW, Gupta S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23285096", "url": "https://glygen.org/publication/PubMed/23285096" } ] }, { "title": "Analysis of gene expression profiling in meningioma: deregulated signaling pathways associated with meningioma and EGFL6 overexpression in benign meningioma tissue and serum.", "journal": "PloS one", "date": "2012", "authors": "Wang X, Gong Y, Wang D, Xie Q, Zheng M, Zhou Y, Li Q, Yang Z, Tang H, Li Y, Hu R, Chen X, Mao Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23285163", "url": "https://glygen.org/publication/PubMed/23285163" } ] }, { "title": "Curcumin induces cell death and restores tamoxifen sensitivity in the antiestrogen-resistant breast cancer cell lines MCF-7/LCC2 and MCF-7/LCC9.", "journal": "Molecules (Basel, Switzerland)", "date": "2013", "authors": "Jiang M, Huang O, Zhang X, Xie Z, Shen A, Liu H, Geng M, Shen K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23299550", "url": "https://glygen.org/publication/PubMed/23299550" } ] }, { "title": "BSTA promotes mTORC2-mediated phosphorylation of Akt1 to suppress expression of FoxC2 and stimulate adipocyte differentiation.", "journal": "Sci. Signal.", "date": "2013", "authors": "Yao Y, Suraokar M, Darnay BG, Hollier BG, Shaiken TE, Asano T, Chen CH, Chang BH, Lu Y, Mills GB, Sarbassov D, Mani SA, Abbruzzese JL, Reddy SA", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23300339", "url": "https://glygen.org/publication/PubMed/23300339" } ] }, { "title": "AKT isoforms 1 and 3 regulate basal and epidermal growth factor-stimulated SGHPL-5 trophoblast cell migration in humans.", "journal": "Biology of reproduction", "date": "2013", "authors": "Haslinger P, Haider S, Sonderegger S, Otten JV, Pollheimer J, Whitley G, Knofler M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23303682", "url": "https://glygen.org/publication/PubMed/23303682" } ] }, { "title": "A comparison of Ku0063794, a dual mTORC1 and mTORC2 inhibitor, and temsirolimus in preclinical renal cell carcinoma models.", "journal": "PloS one", "date": "2013", "authors": "Zhang Hao, Berel Dror, Wang Yanping, Li Ping, Bhowmick Neil A, Figlin Robert A, Kim Hyung L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23349989", "url": "https://glygen.org/publication/PubMed/23349989" } ] }, { "title": "Nexilin, a cardiomyopathy-associated F-actin binding protein, binds and regulates IRS1 signaling in skeletal muscle cells.", "journal": "PloS one", "date": "2013", "authors": "Lee A, Hakuno F, Northcott P, Pessin JE, Rozakis Adcock M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23383252", "url": "https://glygen.org/publication/PubMed/23383252" } ] }, { "title": "Site-specific activation of AKT protects cells from death induced by glucose deprivation.", "journal": "Oncogene", "date": "2014", "authors": "Gao M, Liang J, Lu Y, Guo H, German P, Bai S, Jonasch E, Yang X, Mills GB, Ding Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23396361", "url": "https://glygen.org/publication/PubMed/23396361" } ] }, { "title": "Overexpression of p65 attenuates celecoxib-induced cell death in MDA-MB-231 human breast cancer cell line.", "journal": "Cancer cell international", "date": "2013", "authors": "Wang L, Kang F, Li J, Zhang J, Shan B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23402310", "url": "https://glygen.org/publication/PubMed/23402310" } ] }, { "title": "SNS-032 inhibits mTORC1/mTORC2 activity in acute myeloid leukemia cells and has synergistic activity with perifosine against Akt.", "journal": "Journal of hematology & oncology", "date": "2013-02-18", "authors": "Meng Haitao, Jin Yingming, Liu Hui, You Liangshun, Yang Chunmei, Yang Xue, Qian Wenbin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23415012", "url": "https://glygen.org/publication/PubMed/23415012" } ] }, { "title": "Type I interferons induce autophagy in certain human cancer cell lines.", "journal": "Autophagy", "date": "2013", "authors": "Schmeisser H, Fey SB, Horowitz J, Fischer ER, Balinsky CA, Miyake K, Bekisz J, Snow AL, Zoon KC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23419269", "url": "https://glygen.org/publication/PubMed/23419269" } ] }, { "title": "Systematic parameter estimation in data-rich environments for cell signalling dynamics.", "journal": "Bioinformatics (Oxford, England)", "date": "2013-04-15", "authors": "Nim Tri Hieu, Luo Le, Cl\u00e9ment Marie-V\u00e9ronique, White Jacob K, Tucker-Kellogg Lisa", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23426255", "url": "https://glygen.org/publication/PubMed/23426255" } ] }, { "title": "Regulation of mRNA export by the PI3 kinase/AKT signal transduction pathway.", "journal": "Molecular biology of the cell", "date": "2013", "authors": "Quaresma AJ, Sievert R, Nickerson JA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23427269", "url": "https://glygen.org/publication/PubMed/23427269" } ] }, { "title": "Characterization of Torin2, an ATP-competitive inhibitor of mTOR, ATM, and ATR.", "journal": "Cancer research", "date": "2013", "authors": "Liu Q, Xu C, Kirubakaran S, Zhang X, Hur W, Liu Y, Kwiatkowski NP, Wang J, Westover KD, Gao P, Ercan D, Niepel M, Thoreen CC, Kang SA, Patricelli MP, Wang Y, Tupper T, Altabef A, Kawamura H, Held KD, Chou DM, Elledge SJ, Janne PA, Wong KK, Sabatini DM, Gray NS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23436801", "url": "https://glygen.org/publication/PubMed/23436801" } ] }, { "title": "Different patterns of Akt and ERK feedback activation in response to rapamycin, active-site mTOR inhibitors and metformin in pancreatic cancer cells.", "journal": "PloS one", "date": "2013", "authors": "Soares Heloisa P, Ni Yang, Kisfalvi Krisztina, Sinnett-Smith James, Rozengurt Enrique", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23437362", "url": "https://glygen.org/publication/PubMed/23437362" } ] }, { "title": "Metabolic biomarkers for response to PI3K inhibition in basal-like breast cancer.", "journal": "Breast cancer research : BCR", "date": "2013", "authors": "Moestue SA, Dam CG, Gorad SS, Kristian A, Bofin A, Maelandsmo GM, Engebraten O, Gribbestad IS, Bjorkoy G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23448424", "url": "https://glygen.org/publication/PubMed/23448424" } ] }, { "title": "A maternal diet rich in fish oil may improve cardiac Akt-related signaling in the offspring of diabetic mother rats.", "journal": "Nutrition (Burbank, Los Angeles County, Calif.)", "date": "2013", "authors": "Nasu-Kawaharada R, Nakamura A, Kakarla SK, Blough ER, Kohama K, Kohama T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23466053", "url": "https://glygen.org/publication/PubMed/23466053" } ] }, { "title": "InterAKTions with FKBPs--mutational and pharmacological exploration.", "journal": "PloS one", "date": "2013", "authors": "Fabian AK, Marz A, Neimanis S, Biondi RM, Kozany C, Hausch F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23469007", "url": "https://glygen.org/publication/PubMed/23469007" } ] }, { "title": "AKT signalling and mitochondrial pathways are involved in mushroom polysaccharide-induced apoptosis and G1 or S phase arrest in human hepatoma cells.", "journal": "Food chemistry", "date": "2013-06-15", "authors": "OuYang Fengju, Wang Guibin, Guo Wei, Zhang Yuanyuan, Xiang Wenhua, Zhao Min", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23497867", "url": "https://glygen.org/publication/PubMed/23497867" } ] }, { "title": "Prednisolone induces the Wnt signalling pathway in 3T3-L1 adipocytes.", "journal": "Archives of physiology and biochemistry", "date": "2013-05", "authors": "Fleuren Wilco W M, Linssen Margot M L, Toonen Erik J M, van der Zon Gerard C M, Guigas Bruno, de Vlieg Jacob, Dokter Wim H A, Ouwens D Margriet, Alkema Wynand", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23506355", "url": "https://glygen.org/publication/PubMed/23506355" } ] }, { "title": "Low shear stress induces human vascular endothelial cell apoptosis by activating Akt signal and increasing reactive oxygen species.", "journal": "Nan fang yi ke da xue xue bao = Journal of Southern Medical University", "date": "2013", "authors": "Zhang J, Wang Z, Zuo G, Li B, Zhang J, Tian N, Chen S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23529222", "url": "https://glygen.org/publication/PubMed/23529222" } ] }, { "title": "The impact of cysteine-rich intestinal protein 1 (CRIP1) in human breast cancer.", "journal": "Molecular cancer", "date": "2013", "authors": "Ludyga N, Englert S, Pflieger K, Rauser S, Braselmann H, Walch A, Auer G, Hofler H, Aubele M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23570421", "url": "https://glygen.org/publication/PubMed/23570421" } ] }, { "title": "Novel monofunctional platinum (II) complex Mono-Pt induces apoptosis-independent autophagic cell death in human ovarian carcinoma cells, distinct from cisplatin.", "journal": "Autophagy", "date": "2013", "authors": "Guo WJ, Zhang YM, Zhang L, Huang B, Tao FF, Chen W, Guo ZJ, Xu Q, Sun Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23580233", "url": "https://glygen.org/publication/PubMed/23580233" } ] }, { "title": "Role of PI3K-AKT-mTOR and Wnt Signaling Pathways in Transition of G1-S Phase of Cell Cycle in Cancer Cells.", "journal": "Frontiers in oncology", "date": "2013", "authors": "Vadlakonda L, Pasupuleti M, Pallu R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23596569", "url": "https://glygen.org/publication/PubMed/23596569" } ] }, { "title": "Effective identification of Akt interacting proteins by two-step chemical crosslinking, co-immunoprecipitation and mass spectrometry.", "journal": "PloS one", "date": "2013", "authors": "Huang BX, Kim HY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23613850", "url": "https://glygen.org/publication/PubMed/23613850" } ] }, { "title": "Progesterone utilizes the PI3K-AKT pathway in human spermatozoa to regulate motility and hyperactivation but not acrosome reaction.", "journal": "Molecular and cellular endocrinology", "date": "2013", "authors": "Sagare-Patil V, Vernekar M, Galvankar M, Modi D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23623968", "url": "https://glygen.org/publication/PubMed/23623968" } ] }, { "title": "Novel insulin sensitizer modulates nutrient sensing pathways and maintains beta-cell phenotype in human islets.", "journal": "PloS one", "date": "2013", "authors": "Rohatgi N, Aly H, Marshall CA, McDonald WG, Kletzien RF, Colca JR, McDaniel ML", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23650507", "url": "https://glygen.org/publication/PubMed/23650507" } ] }, { "title": "Phosphorylation accelerates geldanamycin-induced Akt degradation.", "journal": "Archives of biochemistry and biophysics", "date": "2013", "authors": "Su CH, Lan KH, Li CP, Chao Y, Lin HC, Lee SD, Lee WP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23668972", "url": "https://glygen.org/publication/PubMed/23668972" } ] }, { "title": "Inhibition of 14-3-3 binding to Rictor of mTORC2 for Akt phosphorylation at Ser473 is regulated by selenoprotein W.", "journal": "Biochimica et biophysica acta", "date": "2013", "authors": "Jeon YH, Park YH, Kwon JH, Lee JH, Kim IY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23680186", "url": "https://glygen.org/publication/PubMed/23680186" } ] }, { "title": "ERBB4 confers metastatic capacity in Ewing sarcoma.", "journal": "EMBO molecular medicine", "date": "2013", "authors": "Mendoza-Naranjo A, El-Naggar A, Wai DH, Mistry P, Lazic N, Ayala FR, da Cunha IW, Rodriguez-Viciana P, Cheng H, Tavares Guerreiro Fregnani JH, Reynolds P, Arceci RJ, Nicholson A, Triche TJ, Soares FA, Flanagan AM, Wang YZ, Strauss SJ, Sorensen PH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23681745", "url": "https://glygen.org/publication/PubMed/23681745" } ] }, { "title": "Dynamic adipocyte phosphoproteome reveals that Akt directly regulates mTORC2.", "journal": "Cell metabolism", "date": "2013", "authors": "Humphrey SJ, Yang G, Yang P, Fazakerley DJ, Stockli J, Yang JY, James DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23684622", "url": "https://glygen.org/publication/PubMed/23684622" } ] }, { "title": "Butyrate-producing probiotics reduce nonalcoholic fatty liver disease progression in rats: new insight into the probiotics for the gut-liver axis.", "journal": "PloS one", "date": "2013", "authors": "Endo Hitoshi, Niioka Maki, Kobayashi Noriko, Tanaka Mamoru, Watanabe Tetsu", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23696823", "url": "https://glygen.org/publication/PubMed/23696823" } ] }, { "title": "Cell cycle-dependent activity of the novel dual PI3K-MTORC1/2 inhibitor NVP-BGT226 in acute leukemia.", "journal": "Molecular cancer", "date": "2013", "authors": "Kampa-Schittenhelm KM, Heinrich MC, Akmut F, Rasp KH, Illing B, Dohner H, Dohner K, Schittenhelm MM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23705826", "url": "https://glygen.org/publication/PubMed/23705826" } ] }, { "title": "Lipid raft-mediated Akt signaling as a therapeutic target in mantle cell lymphoma.", "journal": "Blood cancer journal", "date": "2013-05-31", "authors": "Reis-Sobreiro M, Rou\u00e9 G, Moros A, Gajate C, de la Iglesia-Vicente J, Colomer D, Mollinedo F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23727661", "url": "https://glygen.org/publication/PubMed/23727661" } ] }, { "title": "AKT is a therapeutic target in myeloproliferative neoplasms.", "journal": "Leukemia", "date": "2013", "authors": "Khan I, Huang Z, Wen Q, Stankiewicz MJ, Gilles L, Goldenson B, Schultz R, Diebold L, Gurbuxani S, Finke CM, Lasho TL, Koppikar P, Pardanani A, Stein B, Altman JK, Levine RL, Tefferi A, Crispino JD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23748344", "url": "https://glygen.org/publication/PubMed/23748344" } ] }, { "title": "Apigenin up-regulates transgelin and inhibits invasion and migration of colorectal cancer through decreased phosphorylation of AKT.", "journal": "The Journal of nutritional biochemistry", "date": "2013-10", "authors": "Chunhua Li, Donglan Lin, Xiuqiong Fu, Lihua Zhang, Qin Fan, Yawei Liu, Liang Zhao, Ge Wen, Linlin Jing, Ping Zeng, Kun Li, Xuegang Sun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23773626", "url": "https://glygen.org/publication/PubMed/23773626" } ] }, { "title": "CSTP1, a novel protein phosphatase, blocks cell cycle, promotes cell apoptosis, and suppresses tumor growth of bladder cancer by directly dephosphorylating Akt at Ser473 site.", "journal": "PloS one", "date": "2013", "authors": "Zhuo DX, Zhang XW, Jin B, Zhang Z, Xie BS, Wu CL, Gong K, Mao ZB", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23799035", "url": "https://glygen.org/publication/PubMed/23799035" } ] }, { "title": "The Paradox of Akt-mTOR Interactions.", "journal": "Frontiers in oncology", "date": "2013", "authors": "Vadlakonda L, Dash A, Pasupuleti M, Anil Kumar K, Reddanna P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23802099", "url": "https://glygen.org/publication/PubMed/23802099" } ] }, { "title": "Inhibition of Notch uncouples Akt activation from hepatic lipid accumulation by decreasing mTorc1 stability.", "journal": "Nature medicine", "date": "2013-08", "authors": "Pajvani Utpal B, Qiang Li, Kangsamaksin Thaned, Kitajewski Jan, Ginsberg Henry N, Accili Domenico", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23832089", "url": "https://glygen.org/publication/PubMed/23832089" } ] }, { "title": "Functional Role of mTORC2 versus Integrin-Linked Kinase in Mediating Ser473-Akt Phosphorylation in PTEN-Negative Prostate and Breast Cancer Cell Lines.", "journal": "PloS one", "date": "2013", "authors": "Lee SL, Chou CC, Chuang HC, Hsu EC, Chiu PC, Kulp SK, Byrd JC, Chen CS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23840605", "url": "https://glygen.org/publication/PubMed/23840605" } ] }, { "title": "Autocrine IGF-I/insulin receptor axis compensates for inhibition of AKT in ER-positive breast cancer cells with resistance to estrogen deprivation.", "journal": "Breast cancer research : BCR", "date": "2013", "authors": "Fox EM, Kuba MG, Miller TW, Davies BR, Arteaga CL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23844554", "url": "https://glygen.org/publication/PubMed/23844554" } ] }, { "title": "Calcium prevents retinoic acid-induced disruption of the spectrin-based cytoskeleton in keratinocytes through the Src/PI3K-p85alpha/AKT/PKCdelta/beta-adducin pathways.", "journal": "Cell calcium", "date": "2013", "authors": "Zhao KN, Masci PP, Chen J, Lavin MF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23849428", "url": "https://glygen.org/publication/PubMed/23849428" } ] }, { "title": "Calix[6]arene bypasses human pancreatic cancer aggressiveness: downregulation of receptor tyrosine kinases and induction of cell death by reticulum stress and autophagy.", "journal": "Biochimica et biophysica acta", "date": "2013-12", "authors": "Pelizzaro-Rocha Karin Juliane, de Jesus Marcelo Bispo, Ruela-de-Sousa Roberta Regina, Nakamura Celso Vataru, Reis Fabiano Souza, de F\u00e1tima Angelo, Ferreira-Halder Carmen Ver\u00edssima", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23872419", "url": "https://glygen.org/publication/PubMed/23872419" } ] }, { "title": "Coordinate phosphorylation of multiple residues on single AKT1 and AKT2 molecules.", "journal": "Oncogene", "date": "2014", "authors": "Guo H, Gao M, Lu Y, Liang J, Lorenzi PL, Bai S, Hawke DH, Li J, Dogruluk T, Scott KL, Jonasch E, Mills GB, Ding Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23912456", "url": "https://glygen.org/publication/PubMed/23912456" } ] }, { "title": "Cancer-associated fibroblasts promote proliferation of endometrial cancer cells.", "journal": "PloS one", "date": "2013", "authors": "Subramaniam KS, Tham ST, Mohamed Z, Woo YL, Mat Adenan NA, Chung I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23922669", "url": "https://glygen.org/publication/PubMed/23922669" } ] }, { "title": "BRCC2 inhibits breast cancer cell growth and metastasis in vitro and in vivo via downregulating AKT pathway.", "journal": "Cell death & disease", "date": "2013", "authors": "Li X, Kong X, Wang Y, Yang Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23928696", "url": "https://glygen.org/publication/PubMed/23928696" } ] }, { "title": "Anti-tumor activity of obinutuzumab and rituximab in a follicular lymphoma 3D model.", "journal": "Blood cancer journal", "date": "2013", "authors": "Decaup E, Jean C, Laurent C, Gravelle P, Fruchon S, Capilla F, Marrot A, Al Saati T, Frenois FX, Laurent G, Klein C, Varoqueaux N, Savina A, Fournie JJ, Bezombes C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23933705", "url": "https://glygen.org/publication/PubMed/23933705" } ] }, { "title": "Evaluation of EGFR and RTK signaling in the electrotaxis of lung adenocarcinoma cells under direct-current electric field stimulation.", "journal": "PloS one", "date": "2013", "authors": "Tsai HF, Huang CW, Chang HF, Chen JJ, Lee CH, Cheng JY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23951353", "url": "https://glygen.org/publication/PubMed/23951353" } ] }, { "title": "Activation of the Akt/mTOR pathway in dentigerous cysts, odontogenic keratocysts, and ameloblastomas.", "journal": "Oral surgery, oral medicine, oral pathology and oral radiology", "date": "2013", "authors": "Chaisuparat R, Yodsanga S, Montaner S, Jham BC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23953418", "url": "https://glygen.org/publication/PubMed/23953418" } ] }, { "title": "Nitric oxide regulates AKT phosphorylation and nuclear translocation in cultured retinal cells.", "journal": "Cellular signalling", "date": "2013-12", "authors": "Mej\u00eda-Garc\u00eda Telmo A, Portugal Camila C, Encarna\u00e7\u00e3o Tha\u00edsa G, Prado Marco Ant\u00f4nio M, Paes-de-Carvalho Roberto", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23958999", "url": "https://glygen.org/publication/PubMed/23958999" } ] }, { "title": "Nimotuzumab enhances the radiosensitivity of cancer cells in vitro by inhibiting radiation-induced DNA damage repair.", "journal": "PloS one", "date": "2013", "authors": "Qu YY, Hu SL, Xu XY, Wang RZ, Yu HY, Xu JY, Chen L, Dong GL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23976954", "url": "https://glygen.org/publication/PubMed/23976954" } ] }, { "title": "Cross talk between the Akt and p38alpha pathways in macrophages downstream of Toll-like receptor signaling.", "journal": "Molecular and cellular biology", "date": "2013", "authors": "McGuire VA, Gray A, Monk CE, Santos SG, Lee K, Aubareda A, Crowe J, Ronkina N, Schwermann J, Batty IH, Leslie NR, Dean JL, O'Keefe SJ, Boothby M, Gaestel M, Arthur JS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23979601", "url": "https://glygen.org/publication/PubMed/23979601" } ] }, { "title": "Parkinson's disease-associated DJ-1 mutations increase abnormal phosphorylation of tau protein through Akt/GSK-3beta pathways.", "journal": "Journal of molecular neuroscience : MN", "date": "2013", "authors": "Wang Y, Liu W, He X, Zhou F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23979838", "url": "https://glygen.org/publication/PubMed/23979838" } ] }, { "title": "PTEN deficiency is associated with reduced sensitivity to mTOR inhibitor in human bladder cancer through the unhampered feedback loop driving PI3K/Akt activation.", "journal": "British journal of cancer", "date": "2013", "authors": "Seront E, Pinto A, Bouzin C, Bertrand L, Machiels JP, Feron O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23989949", "url": "https://glygen.org/publication/PubMed/23989949" } ] }, { "title": "Mammalian target of rapamycin and Rictor control neutrophil chemotaxis by regulating Rac/Cdc42 activity and the actin cytoskeleton.", "journal": "Molecular biology of the cell", "date": "2013-11", "authors": "He Yuan, Li Dong, Cook Sara L, Yoon Mee-Sup, Kapoor Ashish, Rao Christopher V, Kenis Paul J A, Chen Jie, Wang Fei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24006489", "url": "https://glygen.org/publication/PubMed/24006489" } ] }, { "title": "Tissue microarray analysis reveals the expression and prognostic significance of phosphorylated AktThr\u00b3\u2070\u2078 in oral squamous cell carcinoma.", "journal": "Oral surgery, oral medicine, oral pathology and oral radiology", "date": "2013-11", "authors": "Li Yanzhong, Wang Jing, Wang Fang, Wang Hui, Wang Jiayi, Zeng Xin, Liao Ga, Dan Hongxia, Chen Qianming", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24018125", "url": "https://glygen.org/publication/PubMed/24018125" } ] }, { "title": "Hippuristanol reduces the viability of primary effusion lymphoma cells both in vitro and in vivo.", "journal": "Marine drugs", "date": "2013", "authors": "Ishikawa C, Tanaka J, Katano H, Senba M, Mori N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24018901", "url": "https://glygen.org/publication/PubMed/24018901" } ] }, { "title": "Differential activation of signaling pathways by low-osmolar and iso-osmolar radiocontrast agents in human renal tubular cells.", "journal": "Journal of cellular biochemistry", "date": "2014", "authors": "Andreucci M, Faga T, Russo D, Bertucci B, Tamburrini O, Pisani A, Sabbatini M, Fuiano G, Michael A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24023012", "url": "https://glygen.org/publication/PubMed/24023012" } ] }, { "title": "CK2 inhibitor CX-4945 blocks TGF-beta1-induced epithelial-to-mesenchymal transition in A549 human lung adenocarcinoma cells.", "journal": "PloS one", "date": "2013", "authors": "Kim J, Hwan Kim S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24023938", "url": "https://glygen.org/publication/PubMed/24023938" } ] }, { "title": "Genistein induces G2/M arrest in gastric cancer cells by increasing the tumor suppressor PTEN expression.", "journal": "Nutrition and cancer", "date": "2013", "authors": "Liu YL, Zhang GQ, Yang Y, Zhang CY, Fu RX, Yang YM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24053672", "url": "https://glygen.org/publication/PubMed/24053672" } ] }, { "title": "PI3K signaling mediates diverse regulation of ATF4 expression for the survival of HK-2 cells exposed to cadmium.", "journal": "Archives of toxicology", "date": "2014", "authors": "Fujiki K, Inamura H, Matsuoka M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24057571", "url": "https://glygen.org/publication/PubMed/24057571" } ] }, { "title": "Forced expression of the DEK-NUP214 fusion protein promotes proliferation dependent on upregulation of mTOR.", "journal": "BMC cancer", "date": "2013", "authors": "Sanden C, Ageberg M, Petersson J, Lennartsson A, Gullberg U", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24073922", "url": "https://glygen.org/publication/PubMed/24073922" } ] }, { "title": "Phenotype and regulation of immunosuppressive Vdelta2-expressing gammadelta T cells.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2014", "authors": "Peters C, Oberg HH, Kabelitz D, Wesch D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24091816", "url": "https://glygen.org/publication/PubMed/24091816" } ] }, { "title": "Free fatty acids inhibit protein tyrosine phosphatase 1B and activate Akt.", "journal": "Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology", "date": "2013", "authors": "Shibata E, Kanno T, Tsuchiya A, Kuribayashi K, Tabata C, Nakano T, Nishizaki T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24107614", "url": "https://glygen.org/publication/PubMed/24107614" } ] }, { "title": "ROS-dependent phosphorylation of Bax by wortmannin sensitizes melanoma cells for TRAIL-induced apoptosis.", "journal": "Cell death & disease", "date": "2013", "authors": "Quast SA, Berger A, Eberle J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24113173", "url": "https://glygen.org/publication/PubMed/24113173" } ] }, { "title": "20(S)-protopanaxadiol triggers mitochondrial-mediated apoptosis in human lung adenocarcinoma A549 cells via inhibiting the PI3K/Akt signaling pathway.", "journal": "The American journal of Chinese medicine", "date": "2013", "authors": "Zhang Yun-Long, Zhang Rui, Xu Hua-Li, Yu Xiao-Feng, Qu Shao-Chun, Sui Da-Yuan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24117074", "url": "https://glygen.org/publication/PubMed/24117074" } ] }, { "title": "PI3 kinase directly phosphorylates Akt1/2 at Ser473/474 in the insulin signal transduction pathway.", "journal": "The Journal of endocrinology", "date": "2014", "authors": "Tsuchiya A, Kanno T, Nishizaki T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24169049", "url": "https://glygen.org/publication/PubMed/24169049" } ] }, { "title": "Altered mRNA expression related to the apoptotic effect of three xanthones on human melanoma SK-MEL-28 cell line.", "journal": "BioMed research international", "date": "2013", "authors": "Wang Jing J, Zhang Wei, Sanderson Barbara J S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24175297", "url": "https://glygen.org/publication/PubMed/24175297" } ] }, { "title": "Microenvironment mesenchymal cells protect ovarian cancer cell lines from apoptosis by inhibiting XIAP inactivation.", "journal": "Cell death & disease", "date": "2013", "authors": "Castells M, Milhas D, Gandy C, Thibault B, Rafii A, Delord JP, Couderc B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24176845", "url": "https://glygen.org/publication/PubMed/24176845" } ] }, { "title": "Curcumin attenuates amyloid-beta-induced tau hyperphosphorylation in human neuroblastoma SH-SY5Y cells involving PTEN/Akt/GSK-3beta signaling pathway.", "journal": "Journal of receptor and signal transduction research", "date": "2014", "authors": "Huang HC, Tang D, Xu K, Jiang ZF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24188406", "url": "https://glygen.org/publication/PubMed/24188406" } ] }, { "title": "Deregulated expression of TANK in glioblastomas triggers pro-tumorigenic ERK1/2 and AKT signaling pathways.", "journal": "Oncogenesis", "date": "2013-11-11", "authors": "Stellzig J, Chariot A, Shostak K, Ismail G\u00f6ktuna S, Renner F, Acker T, Pagenstecher A, Schmitz M L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24217713", "url": "https://glygen.org/publication/PubMed/24217713" } ] }, { "title": "FUT family mediates the multidrug resistance of human hepatocellular carcinoma via the PI3K/Akt signaling pathway.", "journal": "Cell death & disease", "date": "2013", "authors": "Cheng L, Luo S, Jin C, Ma H, Zhou H, Jia L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24232099", "url": "https://glygen.org/publication/PubMed/24232099" } ] }, { "title": "Transforming growth factor \u03b2 inhibits platelet derived growth factor-induced vascular smooth muscle cell proliferation via Akt-independent, Smad-mediated cyclin D1 downregulation.", "journal": "PloS one", "date": "2013", "authors": "Martin-Garrido Abel, Williams Holly C, Lee Minyoung, Seidel-Rogol Bonnie, Ci Xinpei, Dong Jin-Tang, Lass\u00e8gue Bernard, Mart\u00edn Alejandra San, Griendling Kathy K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24236150", "url": "https://glygen.org/publication/PubMed/24236150" } ] }, { "title": "Acute exercise and physiological insulin induce distinct phosphorylation signatures on TBC1D1 and TBC1D4 proteins in human skeletal muscle.", "journal": "The Journal of physiology", "date": "2014", "authors": "Treebak JT, Pehmoller C, Kristensen JM, Kjobsted R, Birk JB, Schjerling P, Richter EA, Goodyear LJ, Wojtaszewski JF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24247980", "url": "https://glygen.org/publication/PubMed/24247980" } ] }, { "title": "Protective properties of radio-chemoresistant glioblastoma stem cell clones are associated with metabolic adaptation to reduced glucose dependence.", "journal": "PloS one", "date": "2013", "authors": "Ye F, Zhang Y, Liu Y, Yamada K, Tso JL, Menjivar JC, Tian JY, Yong WH, Schaue D, Mischel PS, Cloughesy TF, Nelson SF, Liau LM, McBride W, Tso CL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24260384", "url": "https://glygen.org/publication/PubMed/24260384" } ] }, { "title": "Type II cGMP-dependent protein kinase inhibits epidermal growth factor-induced phosphatidylinositol-3-kinase/Akt signal transduction in gastric cancer cells.", "journal": "Oncology letters", "date": "2013", "authors": "Wu M, Chen Y, Jiang L, Li Y, Lan T, Wang Y, Qian H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24273605", "url": "https://glygen.org/publication/PubMed/24273605" } ] }, { "title": "Gefitinib resistance resulted from STAT3-mediated Akt activation in lung cancer cells.", "journal": "Oncotarget", "date": "2013", "authors": "Wu K, Chang Q, Lu Y, Qiu P, Chen B, Thakur C, Sun J, Li L, Kowluru A, Chen F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24280348", "url": "https://glygen.org/publication/PubMed/24280348" } ] }, { "title": "Mammalian target of rapamycin complex 2 (mTORC2) is a critical determinant of bladder cancer invasion.", "journal": "PloS one", "date": "2013", "authors": "Gupta Sounak, Hau Andrew M, Beach Jordan R, Harwalker Jyoti, Mantuano Elisabetta, Gonias Steven L, Egelhoff Thomas T, Hansel Donna E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24312263", "url": "https://glygen.org/publication/PubMed/24312263" } ] }, { "title": "Okadaic acid toxin at sublethal dose produced cell proliferation in gastric and colon epithelial cell lines.", "journal": "Marine drugs", "date": "2013-12-02", "authors": "del Campo Miguel, Toledo H\u00e9ctor, Lagos N\u00e9stor", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24317467", "url": "https://glygen.org/publication/PubMed/24317467" } ] }, { "title": "Molecular mechanism of apoptosis induction in skin cancer cells by the centipedegrass extract.", "journal": "BMC complementary and alternative medicine", "date": "2013", "authors": "Badaboina S, Bai HW, Park CH, Jang DM, Choi BY, Chung BY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24325618", "url": "https://glygen.org/publication/PubMed/24325618" } ] }, { "title": "Difference in protein expression profile and chemotherapy drugs response of different progression stages of LNCaP sublines and other human prostate cancer cells.", "journal": "PloS one", "date": "2013", "authors": "Lin HP, Lin CY, Hsiao PH, Wang HD, Jiang SS, Hsu JM, Jim WT, Chen M, Kung HJ, Chuu CP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24349321", "url": "https://glygen.org/publication/PubMed/24349321" } ] }, { "title": "Mdm20 stimulates polyQ aggregation via inhibiting autophagy through Akt-Ser473 phosphorylation.", "journal": "PloS one", "date": "2013", "authors": "Yasuda K, Ohyama K, Onga K, Kakizuka A, Mori N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24358196", "url": "https://glygen.org/publication/PubMed/24358196" } ] }, { "title": "DNA-dependent protein kinase catalytic subunit (DNA-PKcs)-SIN1 association mediates ultraviolet B (UVB)-induced Akt Ser-473 phosphorylation and skin cell survival.", "journal": "Molecular cancer", "date": "2013", "authors": "Tu Y, Ji C, Yang B, Yang Z, Gu H, Lu CC, Wang R, Su ZL, Chen B, Sun WL, Xia JP, Bi ZG, He L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24365180", "url": "https://glygen.org/publication/PubMed/24365180" } ] }, { "title": "Ganglioside GD3 induces convergence and synergism of adhesion and hepatocyte growth factor/Met signals in melanomas.", "journal": "Cancer science", "date": "2014", "authors": "Furukawa K, Kambe M, Miyata M, Ohkawa Y, Tajima O, Furukawa K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24372645", "url": "https://glygen.org/publication/PubMed/24372645" } ] }, { "title": "Insight into the structural mechanism for PKBalpha allosteric inhibition by molecular dynamics simulations and free energy calculations.", "journal": "Journal of molecular graphics & modelling", "date": "2014", "authors": "Chen SF, Cao Y, Han S, Chen JZ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24374242", "url": "https://glygen.org/publication/PubMed/24374242" } ] }, { "title": "NOV-002, A Glutathione Disulfide Mimetic, Suppresses Tumor Cell Invasion and Metastasis.", "journal": "Journal of carcinogenesis & mutagenesis", "date": "2013", "authors": "Gumireddy K, Li A, Cao L, Yan J, Liu L, Xu X, Pazoles C, Huang Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24377058", "url": "https://glygen.org/publication/PubMed/24377058" } ] }, { "title": "Arsenic trioxide overcomes rapamycin-induced feedback activation of AKT and ERK signaling to enhance the anti-tumor effects in breast cancer.", "journal": "PloS one", "date": "2013", "authors": "Guilbert C, Annis MG, Dong Z, Siegel PM, Miller WH Jr, Mann KK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24392034", "url": "https://glygen.org/publication/PubMed/24392034" } ] }, { "title": "Synergistic cytotoxicity of gemcitabine, clofarabine and edelfosine in lymphoma cell lines.", "journal": "Blood cancer journal", "date": "2014", "authors": "Valdez BC, Zander AR, Song G, Murray D, Nieto Y, Li Y, Champlin RE, Andersson BS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24413065", "url": "https://glygen.org/publication/PubMed/24413065" } ] }, { "title": "The combination of RAD001 and MK-2206 exerts synergistic cytotoxic effects against PTEN mutant gastric cancer cells: involvement of MAPK-dependent autophagic, but not apoptotic cell death pathway.", "journal": "PloS one", "date": "2014", "authors": "Ji D, Zhang Z, Cheng L, Chang J, Wang S, Zheng B, Zheng R, Sun Z, Wang C, Zhang Z, Liu R, Zhang X, Liu X, Wang X, Li J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24416349", "url": "https://glygen.org/publication/PubMed/24416349" } ] }, { "title": "Disruption of autophagy by the histone deacetylase inhibitor MGCD0103 and its therapeutic implication in B-cell chronic lymphocytic leukemia.", "journal": "Leukemia", "date": "2014", "authors": "El-Khoury V, Pierson S, Szwarcbart E, Brons NH, Roland O, Cherrier-De Wilde S, Plawny L, Van Dyck E, Berchem G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24418989", "url": "https://glygen.org/publication/PubMed/24418989" } ] }, { "title": "Identification of a promising PI3K inhibitor for the treatment of multiple myeloma through the structural optimization.", "journal": "Journal of hematology & oncology", "date": "2014", "authors": "Han K, Xu X, Chen G, Zeng Y, Zhu J, Du X, Zhang Z, Cao B, Liu Z, Mao X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24428908", "url": "https://glygen.org/publication/PubMed/24428908" } ] }, { "title": "Sirt2 deacetylase is a novel AKT binding partner critical for AKT activation by insulin.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Ramakrishnan G, Davaakhuu G, Kaplun L, Chung WC, Rana A, Atfi A, Miele L, Tzivion G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24446434", "url": "https://glygen.org/publication/PubMed/24446434" } ] }, { "title": "VEGF-B-induced vascular growth leads to metabolic reprogramming and ischemia resistance in the heart.", "journal": "EMBO molecular medicine", "date": "2014-03", "authors": "Kivel\u00e4 Riikka, Bry Maija, Robciuc Marius R, R\u00e4s\u00e4nen Markus, Taavitsainen Miia, Silvola Johanna M U, Saraste Antti, Hulmi Juha J, Anisimov Andrey, M\u00e4yr\u00e4np\u00e4\u00e4 Mikko I, Lindeman Jan H, Eklund Lauri, Hellberg Sanna, Hlushchuk Ruslan, Zhuang Zhen W, Simons Michael, Djonov Valentin, Knuuti Juhani, Mervaala Eero, Alitalo Kari", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24448490", "url": "https://glygen.org/publication/PubMed/24448490" } ] }, { "title": "Reversal effect of ST6GAL 1 on multidrug resistance in human leukemia by regulating the PI3K/Akt pathway and the expression of P-gp and MRP1.", "journal": "PloS one", "date": "2014", "authors": "Ma H, Cheng L, Hao K, Li Y, Song X, Zhou H, Jia L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24454800", "url": "https://glygen.org/publication/PubMed/24454800" } ] }, { "title": "Inhibition of human lung cancer cell proliferation and survival by wine.", "journal": "Cancer cell international", "date": "2014", "authors": "Barron CC, Moore J, Tsakiridis T, Pickering G, Tsiani E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24456610", "url": "https://glygen.org/publication/PubMed/24456610" } ] }, { "title": "Phosphorylation by Akt within the ST loop of AMPK-alpha1 down-regulates its activation in tumour cells.", "journal": "The Biochemical journal", "date": "2014", "authors": "Hawley SA, Ross FA, Gowans GJ, Tibarewal P, Leslie NR, Hardie DG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24467442", "url": "https://glygen.org/publication/PubMed/24467442" } ] }, { "title": "Activated alpha2-macroglobulin binding to cell surface GRP78 induces T-loop phosphorylation of Akt1 by PDK1 in association with Raptor.", "journal": "PloS one", "date": "2014", "authors": "Misra UK, Pizzo SV", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24516643", "url": "https://glygen.org/publication/PubMed/24516643" } ] }, { "title": "The mTOR pathway controls cell proliferation by regulating the FoxO3a transcription factor via SGK1 kinase.", "journal": "PloS one", "date": "2014", "authors": "Mori Shunsuke, Nada Shigeyuki, Kimura Hironobu, Tajima Shoji, Takahashi Yusuke, Kitamura Ayaka, Oneyama Chitose, Okada Masato", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24558442", "url": "https://glygen.org/publication/PubMed/24558442" } ] }, { "title": "Is there a pAkt between VEGF and oral cancer cell migration?", "journal": "Cellular signalling", "date": "2014", "authors": "Islam MR, Jones SJ, Macluskey M, Ellis IR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24561239", "url": "https://glygen.org/publication/PubMed/24561239" } ] }, { "title": "Akt inhibitor MK-2206 promotes anti-tumor activity and cell death by modulation of AIF and Ezrin in colorectal cancer.", "journal": "BMC cancer", "date": "2014", "authors": "Agarwal E, Chaudhuri A, Leiphrakpam PD, Haferbier KL, Brattain MG, Chowdhury S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24581231", "url": "https://glygen.org/publication/PubMed/24581231" } ] }, { "title": "The inhibitory effect of anthocyanins on Akt on invasion and epithelial-mesenchymal transition is not associated with the anti-EGFR effect of the anthocyanins.", "journal": "International journal of oncology", "date": "2014", "authors": "Lu JN, Lee WS, Kim MJ, Yun JW, Jung JH, Yi SM, Jeong JH, Kim HJ, Choi YH, Kim GS, Ryu CH, Shin SC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24585214", "url": "https://glygen.org/publication/PubMed/24585214" } ] }, { "title": "Estrogen Regulates Protein Synthesis and Actin Polymerization in Hippocampal Neurons through Different Molecular Mechanisms.", "journal": "Frontiers in endocrinology", "date": "2014", "authors": "Briz V, Baudry M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24611062", "url": "https://glygen.org/publication/PubMed/24611062" } ] }, { "title": "Identification of mTORC2 as a necessary component of HRG/ErbB2-dependent cellular transformation.", "journal": "Molecular cancer research : MCR", "date": "2014", "authors": "Lin MC, Rojas KS, Cerione RA, Wilson KF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24615340", "url": "https://glygen.org/publication/PubMed/24615340" } ] }, { "title": "Downstream signaling and genome-wide regulatory effects of PTK7 pseudokinase and its proteolytic fragments in cancer cells.", "journal": "Cell communication and signaling : CCS", "date": "2014", "authors": "Golubkov VS, Strongin AY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24618420", "url": "https://glygen.org/publication/PubMed/24618420" } ] }, { "title": "Mitochondrial-targeted curcuminoids: a strategy to enhance bioavailability and anticancer efficacy of curcumin.", "journal": "PloS one", "date": "2014", "authors": "Reddy CA, Somepalli V, Golakoti T, Kanugula AK, Karnewar S, Rajendiran K, Vasagiri N, Prabhakar S, Kuppusamy P, Kotamraju S, Kutala VK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24622734", "url": "https://glygen.org/publication/PubMed/24622734" } ] }, { "title": "Feedback loops blockade potentiates apoptosis induction and antitumor activity of a novel AKT inhibitor DC120 in human liver cancer.", "journal": "Cell death & disease", "date": "2014", "authors": "Yang F, Deng R, Qian XJ, Chang SH, Wu XQ, Qin J, Feng GK, Ding K, Zhu XF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24625973", "url": "https://glygen.org/publication/PubMed/24625973" } ] }, { "title": "PI3Kgamma integrates cAMP and Akt signalling of the mu-opioid receptor.", "journal": "British journal of pharmacology", "date": "2014", "authors": "Madishetti S, Schneble N, Konig C, Hirsch E, Schulz S, Muller JP, Wetzker R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24654606", "url": "https://glygen.org/publication/PubMed/24654606" } ] }, { "title": "Human cathelicidin LL-37 and its derivative IG-19 regulate interleukin-32-induced inflammation.", "journal": "Immunology", "date": "2014", "authors": "Choi KY, Napper S, Mookherjee N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24666281", "url": "https://glygen.org/publication/PubMed/24666281" } ] }, { "title": "Inflammation and pancreatic cancer: molecular and functional interactions between S100A8, S100A9, NT-S100A8 and TGFbeta1.", "journal": "Cell communication and signaling : CCS", "date": "2014", "authors": "Basso D, Bozzato D, Padoan A, Moz S, Zambon CF, Fogar P, Greco E, Scorzeto M, Simonato F, Navaglia F, Fassan M, Pelloso M, Dupont S, Pedrazzoli S, Fassina A, Plebani M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24670043", "url": "https://glygen.org/publication/PubMed/24670043" } ] }, { "title": "AKT inhibitors promote cell death in cervical cancer through disruption of mTOR signaling and glucose uptake.", "journal": "PloS one", "date": "2014", "authors": "Rashmi R, DeSelm C, Helms C, Bowcock A, Rogers BE, Rader JL, Grigsby PW, Schwarz JK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24705275", "url": "https://glygen.org/publication/PubMed/24705275" } ] }, { "title": "Akt: a new activation mechanism.", "journal": "Cell research", "date": "2014", "authors": "Gao Y, Moten A, Lin HK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24797432", "url": "https://glygen.org/publication/PubMed/24797432" } ] }, { "title": "Glutaminase 2 negatively regulates the PI3K/AKT signaling and shows tumor suppression activity in human hepatocellular carcinoma.", "journal": "Oncotarget", "date": "2014-05-15", "authors": "Liu Juan, Zhang Cen, Lin Meihua, Zhu Wei, Liang Yingjian, Hong Xuehui, Zhao Yuhan, Young Ken H, Hu Wenwei, Feng Zhaohui", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24797434", "url": "https://glygen.org/publication/PubMed/24797434" } ] }, { "title": "MicroRNA-7 inhibits tumor metastasis and reverses epithelial-mesenchymal transition through AKT/ERK1/2 inactivation by targeting EGFR in epithelial ovarian cancer.", "journal": "PloS one", "date": "2014", "authors": "Zhou X, Hu Y, Dai L, Wang Y, Zhou J, Wang W, Di W, Qiu L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24816687", "url": "https://glygen.org/publication/PubMed/24816687" } ] }, { "title": "Synthesis of Novel 3,5-Disubstituted-2-oxindole Derivatives As Antitumor Agents against Human Nonsmall Cell Lung Cancer.", "journal": "ACS medicinal chemistry letters", "date": "2013", "authors": "Nesi G, Sestito S, Mey V, Ricciardi S, Falasca M, Danesi R, Lapucci A, Breschi MC, Fogli S, Rapposelli S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24900620", "url": "https://glygen.org/publication/PubMed/24900620" } ] }, { "title": "Signaling mechanisms that suppress the cytostatic actions of rapamycin.", "journal": "PloS one", "date": "2014", "authors": "Jahn Stephan C, Law Mary E, Corsino Patrick E, Davis Bradley J, Harrison Jeffrey K, Law Brian K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24927123", "url": "https://glygen.org/publication/PubMed/24927123" } ] }, { "title": "Phosphorylation of Akt at the C-terminal tail triggers Akt activation.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2014", "authors": "Liu P, Wang Z, Wei W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24933731", "url": "https://glygen.org/publication/PubMed/24933731" } ] }, { "title": "The antihypertension drug doxazosin inhibits tumor growth and angiogenesis by decreasing VEGFR-2/Akt/mTOR signaling and VEGF and HIF-1alpha expression.", "journal": "Oncotarget", "date": "2014", "authors": "Park MS, Kim BR, Dong SM, Lee SH, Kim DY, Rho SB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24952732", "url": "https://glygen.org/publication/PubMed/24952732" } ] }, { "title": "CCR6 is a prognostic marker for overall survival in patients with colorectal cancer, and its overexpression enhances metastasis in vivo.", "journal": "PloS one", "date": "2014", "authors": "Liu J, Ke F, Xu Z, Liu Z, Zhang L, Yan S, Wang Z, Wang H, Wang H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24979261", "url": "https://glygen.org/publication/PubMed/24979261" } ] }, { "title": "Molecular switch role of Akt in Polygonatum odoratum lectin-induced apoptosis and autophagy in human non-small cell lung cancer A549 cells.", "journal": "PloS one", "date": "2014", "authors": "Li C, Chen J, Lu B, Shi Z, Wang H, Zhang B, Zhao K, Qi W, Bao J, Wang Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24992302", "url": "https://glygen.org/publication/PubMed/24992302" } ] }, { "title": "Combined therapy with RAD001 e BEZ235 overcomes resistance of PET immortalized cell lines to mTOR inhibition.", "journal": "Oncotarget", "date": "2014", "authors": "Passacantilli I, Capurso G, Archibugi L, Calabretta S, Caldarola S, Loreni F, Delle Fave G, Sette C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25026292", "url": "https://glygen.org/publication/PubMed/25026292" } ] }, { "title": "Src-dependent impairment of autophagy by oxidative stress in a mouse model of Duchenne muscular dystrophy.", "journal": "Nature communications", "date": "2014", "authors": "Pal R, Palmieri M, Loehr JA, Li S, Abo-Zahrah R, Monroe TO, Thakur PB, Sardiello M, Rodney GG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25028121", "url": "https://glygen.org/publication/PubMed/25028121" } ] }, { "title": "p85 protein expression is associated with poor survival in HER2-positive patients with advanced breast cancer treated with trastuzumab.", "journal": "Pathology oncology research : POR", "date": "2015", "authors": "Pavlakis K, Bobos M, Batistatou A, Kotoula V, Eleftheraki AG, Stofas A, Timotheadou E, Pentheroudakis G, Psyrri A, Koutras A, Pectasides D, Papakostas P, Razis E, Christodoulou C, Kalogeras KT, Fountzilas G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25098276", "url": "https://glygen.org/publication/PubMed/25098276" } ] }, { "title": "The flavones apigenin and luteolin induce FOXO1 translocation but inhibit gluconeogenic and lipogenic gene expression in human cells.", "journal": "PloS one", "date": "2014", "authors": "Bumke-Vogt C, Osterhoff MA, Borchert A, Guzman-Perez V, Sarem Z, Birkenfeld AL, Bahr V, Pfeiffer AF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25136826", "url": "https://glygen.org/publication/PubMed/25136826" } ] }, { "title": "The anti-tumor activator sMEK1 and paclitaxel additively decrease expression of HIF-1alpha and VEGF via mTORC1-S6K/4E-BP-dependent signaling pathways.", "journal": "Oncotarget", "date": "2014", "authors": "Kim BR, Yoon K, Byun HJ, Seo SH, Lee SH, Rho SB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25153728", "url": "https://glygen.org/publication/PubMed/25153728" } ] }, { "title": "Characterization of VPS34-IN1, a selective inhibitor of Vps34, reveals that the phosphatidylinositol 3-phosphate-binding SGK3 protein kinase is a downstream target of class III phosphoinositide 3-kinase.", "journal": "The Biochemical journal", "date": "2014", "authors": "Bago R, Malik N, Munson MJ, Prescott AR, Davies P, Sommer E, Shpiro N, Ward R, Cross D, Ganley IG, Alessi DR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25177796", "url": "https://glygen.org/publication/PubMed/25177796" } ] }, { "title": "Tumor suppressor miR-1 restrains epithelial-mesenchymal transition and metastasis of colorectal carcinoma via the MAPK and PI3K/AKT pathway.", "journal": "Journal of translational medicine", "date": "2014", "authors": "Xu L, Zhang Y, Wang H, Zhang G, Ding Y, Zhao L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25196260", "url": "https://glygen.org/publication/PubMed/25196260" } ] }, { "title": "Overcoming endocrine resistance due to reduced PTEN levels in estrogen receptor-positive breast cancer by co-targeting mammalian target of rapamycin, protein kinase B, or mitogen-activated protein kinase kinase.", "journal": "Breast cancer research : BCR", "date": "2014", "authors": "Fu X, Creighton CJ, Biswal NC, Kumar V, Shea M, Herrera S, Contreras A, Gutierrez C, Wang T, Nanda S, Giuliano M, Morrison G, Nardone A, Karlin KL, Westbrook TF, Heiser LM, Anur P, Spellman P, Guichard SM, Smith PD, Davies BR, Klinowska T, Lee AV, Mills GB, Rimawi MF, Hilsenbeck SG, Gray JW, Joshi A, Osborne CK, Schiff R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25212826", "url": "https://glygen.org/publication/PubMed/25212826" } ] }, { "title": "Molecular rationale for the use of PI3K/AKT/mTOR pathway inhibitors in combination with crizotinib in ALK-mutated neuroblastoma.", "journal": "Oncotarget", "date": "2014", "authors": "Moore NF, Azarova AM, Bhatnagar N, Ross KN, Drake LE, Frumm S, Liu QS, Christie AL, Sanda T, Chesler L, Kung AL, Gray NS, Stegmaier K, George RE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25228590", "url": "https://glygen.org/publication/PubMed/25228590" } ] }, { "title": "EphA3, induced by PC-1/PrLZ, contributes to the malignant progression of prostate cancer.", "journal": "Oncology reports", "date": "2014-12", "authors": "Wu Ruiqin, Wang Hongtao, Wang Jian, Wang Peng, Huang Fang, Xie Bangxiang, Zhao Yali, Li Shanhu, Zhou Jianguang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25231727", "url": "https://glygen.org/publication/PubMed/25231727" } ] }, { "title": "Targeting the raft-associated Akt signaling in hepatocellular carcinoma.", "journal": "BioMed research international", "date": "2014", "authors": "Liu Yuan, Lv Ji-Yun, Shi Jian-Fei, Yang Mei, Liu Shu-Hong, Li Zhi-Wei, Wang Hong-Bo, Zhang Shao-Geng, Liu Zhen-Wen, Ding Jin-Biao, Xu Dong-Ping, Zhao Jing-Min", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25243186", "url": "https://glygen.org/publication/PubMed/25243186" } ] }, { "title": "Transforming growth factor beta and insulin signal changes in stromal fibroblasts of individual keratoconus patients.", "journal": "PloS one", "date": "2014", "authors": "Foster J, Wu WH, Scott SG, Bassi M, Mohan D, Daoud Y, Stark WJ, Jun AS, Chakravarti S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25247416", "url": "https://glygen.org/publication/PubMed/25247416" } ] }, { "title": "Lanthionine synthetase C-like protein 2 (LanCL2) is a novel regulator of Akt.", "journal": "Molecular biology of the cell", "date": "2014", "authors": "Zeng M, van der Donk WA, Chen J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25273559", "url": "https://glygen.org/publication/PubMed/25273559" } ] }, { "title": "Molecular mechanism of interaction of mitocurcumin-1 with Akt1 and STAT3: an in silico approach.", "journal": "Indian journal of biochemistry & biophysics", "date": "2014", "authors": "Vasagiri N, Kutala VK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25296502", "url": "https://glygen.org/publication/PubMed/25296502" } ] }, { "title": "SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS.", "journal": "Leukemia", "date": "2015-04", "authors": "Inoue D, Kitaura J, Matsui H, Hou H-A, Chou W-C, Nagamachi A, Kawabata K C, Togami K, Nagase R, Horikawa S, Saika M, Micol J-B, Hayashi Y, Harada Y, Harada H, Inaba T, Tien H-F, Abdel-Wahab O, Kitamura T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25306901", "url": "https://glygen.org/publication/PubMed/25306901" } ] }, { "title": "microRNA-mediated regulation of mTOR complex components facilitates discrimination between activation and anergy in CD4 T cells.", "journal": "The Journal of experimental medicine", "date": "2014", "authors": "Marcais A, Blevins R, Graumann J, Feytout A, Dharmalingam G, Carroll T, Amado IF, Bruno L, Lee K, Walzer T, Mann M, Freitas AA, Boothby M, Fisher AG, Merkenschlager M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25311506", "url": "https://glygen.org/publication/PubMed/25311506" } ] }, { "title": "Simultaneous targeting of PI3Kdelta and a PI3Kdelta-dependent MEK1/2-Erk1/2 pathway for therapy in pediatric B-cell acute lymphoblastic leukemia.", "journal": "Oncotarget", "date": "2014", "authors": "Wang X, Zhang X, Li BS, Zhai X, Yang Z, Ding LX, Wang H, Liang C, Zhu W, Ding J, Meng LH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25313141", "url": "https://glygen.org/publication/PubMed/25313141" } ] }, { "title": "Activation of Akt at T308 and S473 in alcohol, tobacco and HPV-induced HNSCC: is there evidence to support a prognostic or diagnostic role?", "journal": "Experimental hematology & oncology", "date": "2014", "authors": "Islam MR, Ellis IR, Macluskey M, Cochrane L, Jones SJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25352995", "url": "https://glygen.org/publication/PubMed/25352995" } ] }, { "title": "Regulation of the cell cycle and PI3K/Akt/mTOR signaling pathway by tanshinone I in human breast cancer cell lines.", "journal": "Molecular medicine reports", "date": "2015", "authors": "Wang L, Wu J, Lu J, Ma R, Sun D, Tang J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25355053", "url": "https://glygen.org/publication/PubMed/25355053" } ] }, { "title": "Niacin activates the PI3K/Akt cascade via PKC- and EGFR-transactivation-dependent pathways through hydroxyl-carboxylic acid receptor 2.", "journal": "PloS one", "date": "2014", "authors": "Sun H, Li G, Zhang W, Zhou Q, Yu Y, Shi Y, Offermanns S, Lu J, Zhou N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25375133", "url": "https://glygen.org/publication/PubMed/25375133" } ] }, { "title": "Glucose uptake in brown fat cells is dependent on mTOR complex 2-promoted GLUT1 translocation.", "journal": "The Journal of cell biology", "date": "2014", "authors": "Olsen JM, Sato M, Dallner OS, Sandstrom AL, Pisani DF, Chambard JC, Amri EZ, Hutchinson DS, Bengtsson T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25385184", "url": "https://glygen.org/publication/PubMed/25385184" } ] }, { "title": "Phosphorylation of AKT(Ser473) serves as an independent prognostic marker for radiosensitivity in advanced head and neck squamous cell carcinoma.", "journal": "International journal of cancer", "date": "2015", "authors": "Freudlsperger C, Horn D, Weissfuss S, Weichert W, Weber KJ, Saure D, Sharma S, Dyckhoff G, Grabe N, Plinkert P, Hoffmann J, Freier K, Hess J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25388642", "url": "https://glygen.org/publication/PubMed/25388642" } ] }, { "title": "Ciliary transport regulates PDGF-AA/\u03b1\u03b1 signaling via elevated mammalian target of rapamycin signaling and diminished PP2A activity.", "journal": "Molecular biology of the cell", "date": "2015-01-15", "authors": "Umberger Nicole L, Caspary Tamara", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25392303", "url": "https://glygen.org/publication/PubMed/25392303" } ] }, { "title": "Convergent regulation of neuronal differentiation and Erk and Akt kinases in human neural progenitor cells by lysophosphatidic acid, sphingosine 1-phosphate, and LIF: specific roles for the LPA1 receptor.", "journal": "ASN neuro", "date": "2014", "authors": "Callihan Phillip, Ali Mourad W, Salazar Hector, Quach Nhat, Wu Xian, Stice Steven L, Hooks Shelley B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25424429", "url": "https://glygen.org/publication/PubMed/25424429" } ] }, { "title": "AKT hyper-phosphorylation associated with PI3K mutations in lymphatic endothelial cells from a patient with lymphatic malformation.", "journal": "Angiogenesis", "date": "2015", "authors": "Boscolo E, Coma S, Luks VL, Greene AK, Klagsbrun M, Warman ML, Bischoff J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25424831", "url": "https://glygen.org/publication/PubMed/25424831" } ] }, { "title": "GLI inhibitor GANT-61 diminishes embryonal and alveolar rhabdomyosarcoma growth by inhibiting Shh/AKT-mTOR axis.", "journal": "Oncotarget", "date": "2014", "authors": "Srivastava RK, Kaylani SZ, Edrees N, Li C, Talwelkar SS, Xu J, Palle K, Pressey JG, Athar M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25432075", "url": "https://glygen.org/publication/PubMed/25432075" } ] }, { "title": "Oncogenic signaling in amphiregulin and EGFR-expressing PTEN-null human breast cancer.", "journal": "Molecular oncology", "date": "2015", "authors": "Kappler CS, Guest ST, Irish JC, Garrett-Mayer E, Kratche Z, Wilson RC, Ethier SP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25454348", "url": "https://glygen.org/publication/PubMed/25454348" } ] }, { "title": "Basal expression of insulin-like growth factor 1 receptor determines intrinsic resistance of cancer cells to a phosphatidylinositol 3-kinase inhibitor ZSTK474.", "journal": "Cancer science", "date": "2015-02", "authors": "Isoyama Sho, Kajiwara Gensei, Tamaki Naomi, Okamura Mutsumi, Yoshimi Hisashi, Nakamura Naoki, Kawamura Kento, Nishimura Yumiko, Namatame Nachi, Yamori Takao, Dan Shingo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25483727", "url": "https://glygen.org/publication/PubMed/25483727" } ] }, { "title": "Loss of MLH1 confers resistance to PI3Kbeta inhibitors in renal clear cell carcinoma with SETD2 mutation.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2015", "authors": "Feng C, Ding G, Jiang H, Ding Q, Wen H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25528216", "url": "https://glygen.org/publication/PubMed/25528216" } ] }, { "title": "mTORC2 is required for rit-mediated oxidative stress resistance.", "journal": "PloS one", "date": "2014", "authors": "Cai W, Andres DA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25531880", "url": "https://glygen.org/publication/PubMed/25531880" } ] }, { "title": "A kinase-independent function of AKT promotes cancer cell survival.", "journal": "eLife", "date": "2014", "authors": "Vivanco I, Chen ZC, Tanos B, Oldrini B, Hsieh WY, Yannuzzi N, Campos C, Mellinghoff IK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25551293", "url": "https://glygen.org/publication/PubMed/25551293" } ] }, { "title": "Attenuation of the phosphatidylinositol 3-kinase/Akt signaling pathway by Porphyromonas gingivalis gingipains RgpA, RgpB, and Kgp.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Nakayama M, Inoue T, Naito M, Nakayama K, Ohara N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25564612", "url": "https://glygen.org/publication/PubMed/25564612" } ] }, { "title": "Candidate tumor suppressor B-cell translocation gene 3 impedes neoplastic progression by suppression of AKT.", "journal": "Cell death & disease", "date": "2015", "authors": "Cheng YC, Chen PH, Chiang HY, Suen CS, Hwang MJ, Lin TY, Yang HC, Lin WC, Lai PL, Shieh SY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25569101", "url": "https://glygen.org/publication/PubMed/25569101" } ] }, { "title": "Overexpression of PAK1 promotes cell survival in inflammatory bowel diseases and colitis-associated cancer.", "journal": "Inflammatory bowel diseases", "date": "2015", "authors": "Khare V, Dammann K, Asboth M, Krnjic A, Jambrich M, Gasche C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25569743", "url": "https://glygen.org/publication/PubMed/25569743" } ] }, { "title": "The roles of akt isoforms in the regulation of podosome formation in fibroblasts and extracellular matrix invasion.", "journal": "Cancers", "date": "2015-01-07", "authors": "Eves Robert, Oldham Robyn, Jia Lilly, Mak Alan S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25575302", "url": "https://glygen.org/publication/PubMed/25575302" } ] }, { "title": "Platycodin D triggers autophagy through activation of extracellular signal-regulated kinase in hepatocellular carcinoma HepG2 cells.", "journal": "European journal of pharmacology", "date": "2015", "authors": "Li T, Tang ZH, Xu WS, Wu GS, Wang YF, Chang LL, Zhu H, Chen XP, Wang YT, Chen Y, Lu JJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25592318", "url": "https://glygen.org/publication/PubMed/25592318" } ] }, { "title": "The PI3K inhibitor GDC-0941 displays promising in vitro and in vivo efficacy for targeted medulloblastoma therapy.", "journal": "Oncotarget", "date": "2015-01-20", "authors": "Ehrhardt Michael, Craveiro Rogerio B, Holst Martin I, Pietsch Torsten, Dilloo Dagmar", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25596739", "url": "https://glygen.org/publication/PubMed/25596739" } ] }, { "title": "BMCC1, which is an interacting partner of BCL2, attenuates AKT activity, accompanied by apoptosis.", "journal": "Cell death & disease", "date": "2015", "authors": "Tatsumi Y, Takano R, Islam MS, Yokochi T, Itami M, Nakamura Y, Nakagawara A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25611382", "url": "https://glygen.org/publication/PubMed/25611382" } ] }, { "title": "Translationally controlled tumor protein induces epithelial to mesenchymal transition and promotes cell migration, invasion and metastasis.", "journal": "Scientific reports", "date": "2015", "authors": "Bae SY, Kim HJ, Lee KJ, Lee K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25622969", "url": "https://glygen.org/publication/PubMed/25622969" } ] }, { "title": "Alisertib, an Aurora kinase A inhibitor, induces apoptosis and autophagy but inhibits epithelial to mesenchymal transition in human epithelial ovarian cancer cells.", "journal": "Drug design, development and therapy", "date": "2015", "authors": "Ding YH, Zhou ZW, Ha CF, Zhang XY, Pan ST, He ZX, Edelman JL, Wang D, Yang YX, Zhang X, Duan W, Yang T, Qiu JX, Zhou SF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25624750", "url": "https://glygen.org/publication/PubMed/25624750" } ] }, { "title": "Beclin 1 regulates growth factor receptor signaling in breast cancer.", "journal": "Oncogene", "date": "2015", "authors": "Rohatgi RA, Janusis J, Leonard D, Bellve KD, Fogarty KE, Baehrecke EH, Corvera S, Shaw LM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25639875", "url": "https://glygen.org/publication/PubMed/25639875" } ] }, { "title": "Inactivation of the phosphatidylinositol 3-kinase/Akt pathway is involved in BMP9-mediated tumor-suppressive effects in gastric cancer cells.", "journal": "Journal of cellular biochemistry", "date": "2015", "authors": "Duan L, Ye L, Wu R, Wang H, Li X, Li H, Yuan S, Zha H, Sun H, Zhang Y, Chen X, Zhang Y, Zhou L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25640278", "url": "https://glygen.org/publication/PubMed/25640278" } ] }, { "title": "mTOR inhibition induces EGFR feedback activation in association with its resistance to human pancreatic cancer.", "journal": "International journal of molecular sciences", "date": "2015", "authors": "Wei F, Zhang Y, Geng L, Zhang P, Wang G, Liu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25654224", "url": "https://glygen.org/publication/PubMed/25654224" } ] }, { "title": "Differential signaling during macropinocytosis in response to M-CSF and PMA in macrophages.", "journal": "Frontiers in physiology", "date": "2015", "authors": "Yoshida S, Gaeta I, Pacitto R, Krienke L, Alge O, Gregorka B, Swanson JA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25688212", "url": "https://glygen.org/publication/PubMed/25688212" } ] }, { "title": "Impact of Enhanced Production of Endogenous Heme Oxygenase-1 by Pitavastatin on Survival and Functional Activities of Bone Marrow-derived Mesenchymal Stem Cells.", "journal": "Journal of cardiovascular pharmacology", "date": "2015-06", "authors": "Kawashiri Masa-Aki, Nakanishi Chiaki, Tsubokawa Toshinari, Shimojima Masaya, Yoshida Shohei, Yoshimuta Tsuyoshi, Konno Tetsuo, Yamagishi Masakazu, Hayashi Kenshi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25714596", "url": "https://glygen.org/publication/PubMed/25714596" } ] }, { "title": "PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.", "journal": "Brain : a journal of neurology", "date": "2015", "authors": "Jansen LA, Mirzaa GM, Ishak GE, O'Roak BJ, Hiatt JB, Roden WH, Gunter SA, Christian SL, Collins S, Adams C, Riviere JB, St-Onge J, Ojemann JG, Shendure J, Hevner RF, Dobyns WB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25722288", "url": "https://glygen.org/publication/PubMed/25722288" } ] }, { "title": "DC120, a novel AKT inhibitor, preferentially suppresses nasopharyngeal carcinoma cancer stem-like cells by downregulating Sox2.", "journal": "Oncotarget", "date": "2015", "authors": "Qin J, Ji J, Deng R, Tang J, Yang F, Feng GK, Chen WD, Wu XQ, Qian XJ, Ding K, Zhu XF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25749514", "url": "https://glygen.org/publication/PubMed/25749514" } ] }, { "title": "Tetraspanin 8-rictor-integrin \u03b13 complex is required for glioma cell migration.", "journal": "International journal of molecular sciences", "date": "2015-03-09", "authors": "Pan Si-Jian, Zhan Shi-Kun, Pan Yi-Xin, Liu Wei, Bian Liu-Guan, Sun Bomin, Sun Qing-Fang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25761241", "url": "https://glygen.org/publication/PubMed/25761241" } ] }, { "title": "YSY01A, a Novel Proteasome Inhibitor, Induces Cell Cycle Arrest on G2 Phase in MCF-7 Cells via ERalpha and PI3K/Akt Pathways.", "journal": "Journal of Cancer", "date": "2015", "authors": "Xue B, Huang W, Yuan X, Xu B, Lou Y, Zhou Q, Ran F, Ge Z, Li R, Cui J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25767601", "url": "https://glygen.org/publication/PubMed/25767601" } ] }, { "title": "Clinically significant association between the maximum standardized uptake value on 18F-FDG PET and expression of phosphorylated Akt and S6 kinase for prediction of the biological characteristics of renal cell cancer.", "journal": "BMC cancer", "date": "2015", "authors": "Mizuno T, Kamai T, Abe H, Sakamoto S, Kitajima K, Nishihara D, Yuki H, Kambara T, Betsunoh H, Yashi M, Fukabori Y, Kaji Y, Yoshida K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25784113", "url": "https://glygen.org/publication/PubMed/25784113" } ] }, { "title": "Pro-apoptotic and pro-autophagic effects of the Aurora kinase A inhibitor alisertib (MLN8237) on human osteosarcoma U-2 OS and MG-63 cells through the activation of mitochondria-mediated pathway and inhibition of p38 MAPK/PI3K/Akt/mTOR signaling pathway.", "journal": "Drug design, development and therapy", "date": "2015", "authors": "Niu NK, Wang ZL, Pan ST, Ding HQ, Au GH, He ZX, Zhou ZW, Xiao G, Yang YX, Zhang X, Yang T, Chen XW, Qiu JX, Zhou SF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25792811", "url": "https://glygen.org/publication/PubMed/25792811" } ] }, { "title": "Hepatocyte nuclear factor 1A (HNF1A) as a possible tumor suppressor in pancreatic cancer.", "journal": "PloS one", "date": "2015", "authors": "Luo Z, Li Y, Wang H, Fleming J, Li M, Kang Y, Zhang R, Li D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25793983", "url": "https://glygen.org/publication/PubMed/25793983" } ] }, { "title": "A Combination of Screening and Computational Approaches for the Identification of Novel Compounds That Decrease Mast Cell Degranulation.", "journal": "Journal of biomolecular screening", "date": "2015", "authors": "McShane MP, Friedrichson T, Giner A, Meyenhofer F, Barsacchi R, Bickle M, Zerial M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25838434", "url": "https://glygen.org/publication/PubMed/25838434" } ] }, { "title": "Distinct inhibitory effects on mTOR signaling by ethanol and INK128 in diffuse large B-cell lymphoma.", "journal": "Cell communication and signaling : CCS", "date": "2015", "authors": "Mazan-Mamczarz K, Peroutka RJ, Steinhardt JJ, Gidoni M, Zhang Y, Lehrmann E, Landon AL, Dai B, Houng S, Muniandy PA, Efroni S, Becker KG, Gartenhaus RB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25849580", "url": "https://glygen.org/publication/PubMed/25849580" } ] }, { "title": "Akt and mitogen-activated protein kinase enhance C-type lectin-like receptor 2-mediated platelet activation by inhibition of glycogen synthase kinase 3alpha/beta.", "journal": "Journal of thrombosis and haemostasis : JTH", "date": "2015", "authors": "Moroi AJ, Watson SP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25858425", "url": "https://glygen.org/publication/PubMed/25858425" } ] }, { "title": "Bariatric surgery in morbidly obese insulin resistant humans normalises insulin signalling but not insulin-stimulated glucose disposal.", "journal": "PloS one", "date": "2015", "authors": "Chen MZ, Hudson CA, Vincent EE, de Berker DA, May MT, Hers I, Dayan CM, Andrews RC, Tavare JM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25876175", "url": "https://glygen.org/publication/PubMed/25876175" } ] }, { "title": "Methylation status of insulin-like growth factor-binding protein 7 concurs with the malignance of oral tongue cancer.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2015", "authors": "Chen LH, Liu DW, Chang JL, Chen PR, Hsu LP, Lin HY, Chou YF, Lee CF, Yang MC, Wen YH, Hsu WL, Weng CF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25880247", "url": "https://glygen.org/publication/PubMed/25880247" } ] }, { "title": "Intelectin 1 suppresses the growth, invasion and metastasis of neuroblastoma cells through up-regulation of N-myc downstream regulated gene 2.", "journal": "Molecular cancer", "date": "2015-02-21", "authors": "Li Dan, Mei Hong, Pu Jiarui, Xiang Xuan, Zhao Xiang, Qu Hongxia, Huang Kai, Zheng Liduan, Tong Qiangsong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25889839", "url": "https://glygen.org/publication/PubMed/25889839" } ] }, { "title": "Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.", "journal": "PloS one", "date": "2015", "authors": "Loconte DC, Grossi V, Bozzao C, Forte G, Bagnulo R, Stella A, Lastella P, Cutrone M, Benedicenti F, Susca FC, Patruno M, Varvara D, Germani A, Chessa L, Laforgia N, Tenconi R, Simone C, Resta N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25915946", "url": "https://glygen.org/publication/PubMed/25915946" } ] }, { "title": "Ghrelin promotes renal cell carcinoma metastasis via Snail activation and is associated with poor prognosis.", "journal": "The Journal of pathology", "date": "2015-09", "authors": "Lin Tsung-Chieh, Liu Yu-Peng, Chan Yung-Chieh, Su Chia-Yi, Lin Yuan-Feng, Hsu Shih-Lan, Yang Chung-Shi, Hsiao Michael", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25925728", "url": "https://glygen.org/publication/PubMed/25925728" } ] }, { "title": "AKT inhibition overcomes rapamycin resistance by enhancing the repressive function of PRAS40 on mTORC1/4E-BP1 axis.", "journal": "Oncotarget", "date": "2015", "authors": "Mi W, Ye Q, Liu S, She QB", "evidence": [ { "database": "Reactome", "id": "R-HSA-165159", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-165159" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25961827", "url": "https://glygen.org/publication/PubMed/25961827" } ] }, { "title": "Optimization of Invasion-Specific Effects of Betulin Derivatives on Prostate Cancer Cells through Lead Development.", "journal": "PloS one", "date": "2015", "authors": "Harma V, Haavikko R, Virtanen J, Ahonen I, Schukov HP, Alakurtti S, Purev E, Rischer H, Yli-Kauhaluoma J, Moreira VM, Nees M, Oksman-Caldentey KM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25965345", "url": "https://glygen.org/publication/PubMed/25965345" } ] }, { "title": "Intelectin 1 suppresses tumor progression and is associated with improved survival in gastric cancer.", "journal": "Oncotarget", "date": "2015", "authors": "Li D, Zhao X, Xiao Y, Mei H, Pu J, Xiang X, Jiao W, Song H, Qu H, Huang K, Zheng L, Tong Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25965823", "url": "https://glygen.org/publication/PubMed/25965823" } ] }, { "title": "PTPRG suppresses tumor growth and invasion via inhibition of Akt signaling in nasopharyngeal carcinoma.", "journal": "Oncotarget", "date": "2015-05-30", "authors": "Cheung Arthur Kwok Leung, Ip Joseph Chok Yan, Chu Adrian Chi Hang, Cheng Yue, Leong Merrin Man Long, Ko Josephine Mun Yee, Shuen Wai Ho, Lung Hong Lok, Lung Maria Li", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25970784", "url": "https://glygen.org/publication/PubMed/25970784" } ] }, { "title": "Marine lipopeptide Iturin A inhibits Akt mediated GSK3beta and FoxO3a signaling and triggers apoptosis in breast cancer.", "journal": "Scientific reports", "date": "2015", "authors": "Dey G, Bharti R, Dhanarajan G, Das S, Dey KK, Kumar BN, Sen R, Mandal M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25974307", "url": "https://glygen.org/publication/PubMed/25974307" } ] }, { "title": "Nuclear EGFR impairs ASPP2-p53 complex-induced apoptosis by inducing SOS1 expression in hepatocellular carcinoma.", "journal": "Oncotarget", "date": "2015", "authors": "Liu K, Jiang T, Ouyang Y, Shi Y, Zang Y, Li N, Lu S, Chen D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25980493", "url": "https://glygen.org/publication/PubMed/25980493" } ] }, { "title": "Akt/PKB: one kinase, many modifications.", "journal": "The Biochemical journal", "date": "2015", "authors": "Risso G, Blaustein M, Pozzi B, Mammi P, Srebrow A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25997832", "url": "https://glygen.org/publication/PubMed/25997832" } ] }, { "title": "RPPA-based protein profiling reveals eIF4G overexpression and 4E-BP1 serine 65 phosphorylation as molecular events that correspond with a pro-survival phenotype in chronic lymphocytic leukemia.", "journal": "Oncotarget", "date": "2015", "authors": "Shull AY, Noonepalle SK, Awan FT, Liu J, Pei L, Bollag RJ, Salman H, Ding Z, Shi H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25999352", "url": "https://glygen.org/publication/PubMed/25999352" } ] }, { "title": "Cellular context-mediated Akt dynamics regulates MAP kinase signaling thresholds during angiogenesis.", "journal": "Molecular biology of the cell", "date": "2015", "authors": "Hellesoy M, Lorens JB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26023089", "url": "https://glygen.org/publication/PubMed/26023089" } ] }, { "title": "The critical role of Akt in cardiovascular function.", "journal": "Vascular pharmacology", "date": "2015", "authors": "Abeyrathna P, Su Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26025205", "url": "https://glygen.org/publication/PubMed/26025205" } ] }, { "title": "BCL-3 expression promotes colorectal tumorigenesis through activation of AKT signalling.", "journal": "Gut", "date": "2016-07", "authors": "Urban Bettina C, Collard Tracey J, Eagle Catherine J, Southern Samantha L, Greenhough Alexander, Hamdollah-Zadeh Maryam, Ghosh Anil, Poulsom Richard, Paraskeva Christos, Silver Andrew, Williams Ann C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26033966", "url": "https://glygen.org/publication/PubMed/26033966" } ] }, { "title": "Rapamycin inhibits Erk1/2-mediated neuronal apoptosis caused by cadmium.", "journal": "Oncotarget", "date": "2015", "authors": "Xu C, Zhang H, Liu C, Zhu Y, Wang X, Gao W, Huang S, Chen L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26046303", "url": "https://glygen.org/publication/PubMed/26046303" } ] }, { "title": "Mitogen-Inducible Gene-6 Mediates Feedback Inhibition from Mutated BRAF towards the Epidermal Growth Factor Receptor and Thereby Limits Malignant Transformation.", "journal": "PloS one", "date": "2015", "authors": "Milewska Malgorzata, Romano David, Herrero Ana, Guerriero Maria Luisa, Birtwistle Marc, Quehenberger Franz, Hatzl Stefan, Kholodenko Boris N, Segatto Oreste, Kolch Walter, Zebisch Armin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26065894", "url": "https://glygen.org/publication/PubMed/26065894" } ] }, { "title": "Par6G suppresses cell proliferation and is targeted by loss-of-function mutations in multiple cancers.", "journal": "Oncogene", "date": "2016", "authors": "Marques E, Englund JI, Tervonen TA, Virkunen E, Laakso M, Myllynen M, Makela A, Ahvenainen M, Lepikhova T, Monni O, Hautaniemi S, Klefstrom J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26073086", "url": "https://glygen.org/publication/PubMed/26073086" } ] }, { "title": "Lhx8 regulates primordial follicle activation and postnatal folliculogenesis.", "journal": "BMC biology", "date": "2015-06-16", "authors": "Ren Yu, Suzuki Hitomi, Jagarlamudi Krishna, Golnoski Kayla, McGuire Megan, Lopes Rita, Pachnis Vassilis, Rajkovic Aleksandar", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26076587", "url": "https://glygen.org/publication/PubMed/26076587" } ] }, { "title": "TNFalpha signaling regulates cystic epithelial cell proliferation through Akt/mTOR and ERK/MAPK/Cdk2 mediated Id2 signaling.", "journal": "PloS one", "date": "2015", "authors": "Zhou JX, Fan LX, Li X, Calvet JP, Li X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26110849", "url": "https://glygen.org/publication/PubMed/26110849" } ] }, { "title": "Basal Autophagy and Feedback Activation of Akt Are Associated with Resistance to Metformin-Induced Inhibition of Hepatic Tumor Cell Growth.", "journal": "PloS one", "date": "2015", "authors": "Yang H, Peng YF, Ni HM, Li Y, Shi YH, Ding WX, Fan J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26111001", "url": "https://glygen.org/publication/PubMed/26111001" } ] }, { "title": "A Potential Role for the Inhibition of PI3K Signaling in Glioblastoma Therapy.", "journal": "PloS one", "date": "2015", "authors": "Strobele S, Schneider M, Schneele L, Siegelin MD, Nonnenmacher L, Zhou S, Karpel-Massler G, Westhoff MA, Halatsch ME, Debatin KM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26121251", "url": "https://glygen.org/publication/PubMed/26121251" } ] }, { "title": "Doxorubicin induces apoptosis by targeting Madcam1 and AKT and inhibiting protein translation initiation in hepatocellular carcinoma cells.", "journal": "Oncotarget", "date": "2015", "authors": "Wang J, Ma L, Tang X, Zhang X, Qiao Y, Shi Y, Xu Y, Wang Z, Yu Y, Sun F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26124182", "url": "https://glygen.org/publication/PubMed/26124182" } ] }, { "title": "The dual PI3K/mTOR inhibitor NVP-BEZ235 inhibits proliferation and induces apoptosis of burkitt lymphoma cells.", "journal": "Cancer cell international", "date": "2015", "authors": "Li C, Xin P, Xiao H, Zheng Y, Huang Y, Zhu X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26130968", "url": "https://glygen.org/publication/PubMed/26130968" } ] }, { "title": "Inhibitors of pan-PI3K Signaling Synergize with BRAF or MEK Inhibitors to Prevent BRAF-Mutant Melanoma Cell Growth.", "journal": "Frontiers in oncology", "date": "2015", "authors": "Sweetlove Melanie, Wrightson Emma, Kolekar Sharada, Rewcastle Gordon W, Baguley Bruce C, Shepherd Peter R, Jamieson Stephen M F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26137449", "url": "https://glygen.org/publication/PubMed/26137449" } ] }, { "title": "A Hot-spot of In-frame Duplications Activates the Oncoprotein AKT1 in Juvenile Granulosa Cell Tumors.", "journal": "EBioMedicine", "date": "2015", "authors": "Bessiere L, Todeschini AL, Auguste A, Sarnacki S, Flatters D, Legois B, Sultan C, Kalfa N, Galmiche L, Veitia RA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26137586", "url": "https://glygen.org/publication/PubMed/26137586" } ] }, { "title": "The virus-induced protein APOBEC3G inhibits anoikis by activation of Akt kinase in pancreatic cancer cells.", "journal": "Scientific reports", "date": "2015-07-16", "authors": "Wu Jia, Pan Tian-Hui, Xu Song, Jia Li-Tao, Zhu Lin-Lin, Mao Jian-Shan, Zhu Yong-Liang, Cai Jian-Ting", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26178819", "url": "https://glygen.org/publication/PubMed/26178819" } ] }, { "title": "Akt kinase C-terminal modifications control activation loop dephosphorylation and enhance insulin response.", "journal": "The Biochemical journal", "date": "2015", "authors": "Chan TO, Zhang J, Tiegs BC, Blumhof B, Yan L, Keny N, Penny M, Li X, Pascal JM, Armen RS, Rodeck U, Penn RB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26201515", "url": "https://glygen.org/publication/PubMed/26201515" } ] }, { "title": "VS-5584, a Novel PI3K-mTOR Dual Inhibitor, Inhibits Melanoma Cell Growth In Vitro and In Vivo.", "journal": "PloS one", "date": "2015", "authors": "Shao Zheren, Bao Qi, Jiang Fangzhen, Qian Huan, Fang Quan, Hu Xueqing", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26204252", "url": "https://glygen.org/publication/PubMed/26204252" } ] }, { "title": "A Positive Feedback Loop between Akt and mTORC2 via SIN1 Phosphorylation.", "journal": "Cell reports", "date": "2015", "authors": "Yang G, Murashige DS, Humphrey SJ, James DE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26235620", "url": "https://glygen.org/publication/PubMed/26235620" } ] }, { "title": "Fucoidan Suppresses the Growth of Human Acute Promyelocytic Leukemia Cells In Vitro and In Vivo.", "journal": "Journal of cellular physiology", "date": "2016-03", "authors": "Atashrazm Farzaneh, Lowenthal Ray M, Woods Gregory M, Holloway Adele F, Karpiniec Samuel S, Dickinson Joanne L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26241708", "url": "https://glygen.org/publication/PubMed/26241708" } ] }, { "title": "Aschantin targeting on the kinase domain of mammalian target of rapamycin suppresses epidermal growth factor-induced neoplastic cell transformation.", "journal": "Carcinogenesis", "date": "2015", "authors": "Lee CJ, Jang JH, Lee JY, Lee MH, Li Y, Ryu HW, Choi KI, Dong Z, Lee HS, Oh SR, Surh YJ, Cho YY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26243309", "url": "https://glygen.org/publication/PubMed/26243309" } ] }, { "title": "Avian Reovirus Protein p17 Functions as a Nucleoporin Tpr Suppressor Leading to Activation of p53, p21 and PTEN and Inactivation of PI3K/AKT/mTOR and ERK Signaling Pathways.", "journal": "PloS one", "date": "2015", "authors": "Huang WR, Chiu HC, Liao TL, Chuang KP, Shih WL, Liu HJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26244501", "url": "https://glygen.org/publication/PubMed/26244501" } ] }, { "title": "Agonistic aptamer to the insulin receptor leads to biased signaling and functional selectivity through allosteric modulation.", "journal": "Nucleic acids research", "date": "2015", "authors": "Yunn NO, Koh A, Han S, Lim JH, Park S, Lee J, Kim E, Jang SK, Berggren PO, Ryu SH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26245346", "url": "https://glygen.org/publication/PubMed/26245346" } ] }, { "title": "MicroRNA-587 antagonizes 5-FU-induced apoptosis and confers drug resistance by regulating PPP2R1B expression in colorectal cancer.", "journal": "Cell death & disease", "date": "2015", "authors": "Zhang Y, Talmon G, Wang J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26247730", "url": "https://glygen.org/publication/PubMed/26247730" } ] }, { "title": "Association of Factor V Secretion with Protein Kinase B Signaling in Platelets from Horses with Atypical Equine Thrombasthenia.", "journal": "Journal of veterinary internal medicine", "date": "2015", "authors": "Norris JW, Pombo M, Shirley E, Blevins G, Tablin F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26290457", "url": "https://glygen.org/publication/PubMed/26290457" } ] }, { "title": "alpha-Solanine induces ROS-mediated autophagy through activation of endoplasmic reticulum stress and inhibition of Akt/mTOR pathway.", "journal": "Cell death & disease", "date": "2015", "authors": "Hasanain M, Bhattacharjee A, Pandey P, Ashraf R, Singh N, Sharma S, Vishwakarma AL, Datta D, Mitra K, Sarkar J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26313911", "url": "https://glygen.org/publication/PubMed/26313911" } ] }, { "title": "Crocetinic acid inhibits hedgehog signaling to inhibit pancreatic cancer stem cells.", "journal": "Oncotarget", "date": "2015", "authors": "Rangarajan P, Subramaniam D, Paul S, Kwatra D, Palaniyandi K, Islam S, Harihar S, Ramalingam S, Gutheil W, Putty S, Pradhan R, Padhye S, Welch DR, Anant S, Dhar A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26317547", "url": "https://glygen.org/publication/PubMed/26317547" } ] }, { "title": "TSC2 mediates hyperosmotic stress-induced inactivation of mTORC1.", "journal": "Scientific reports", "date": "2015", "authors": "Plescher M, Teleman AA, Demetriades C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26345496", "url": "https://glygen.org/publication/PubMed/26345496" } ] }, { "title": "RICTOR involvement in the PI3K/AKT pathway regulation in melanocytes and melanoma.", "journal": "Oncotarget", "date": "2015", "authors": "Laugier F, Finet-Benyair A, Andre J, Rachakonda PS, Kumar R, Bensussan A, Dumaz N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26356562", "url": "https://glygen.org/publication/PubMed/26356562" } ] }, { "title": "sMEK1 inhibits endothelial cell proliferation by attenuating VEGFR-2-dependent-Akt/eNOS/HIF-1alpha signaling pathways.", "journal": "Oncotarget", "date": "2015", "authors": "Kim BR, Seo SH, Park MS, Lee SH, Kwon Y, Rho SB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26378810", "url": "https://glygen.org/publication/PubMed/26378810" } ] }, { "title": "Evaluation of In Vitro Activity of the Class I PI3K Inhibitor Buparlisib (BKM120) in Pediatric Bone and Soft Tissue Sarcomas.", "journal": "PloS one", "date": "2015", "authors": "Anderson JL, Park A, Akiyama R, Tap WD, Denny CT, Federman N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26402468", "url": "https://glygen.org/publication/PubMed/26402468" } ] }, { "title": "Fangchinoline suppresses the growth and invasion of human glioblastoma cells by inhibiting the kinase activity of Akt and Akt-mediated signaling cascades.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2016", "authors": "Guo B, Xie P, Su J, Zhang T, Li X, Liang G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26408176", "url": "https://glygen.org/publication/PubMed/26408176" } ] }, { "title": "AIF inhibits tumor metastasis by protecting PTEN from oxidation.", "journal": "EMBO reports", "date": "2015", "authors": "Shen SM, Guo M, Xiong Z, Yu Y, Zhao XY, Zhang FF, Chen GQ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26415504", "url": "https://glygen.org/publication/PubMed/26415504" } ] }, { "title": "Control of peripheral tolerance by regulatory T cell-intrinsic Notch signaling.", "journal": "Nature immunology", "date": "2015-11", "authors": "Charbonnier Louis-Marie, Wang Sen, Georgiev Peter, Sefik Esen, Chatila Talal A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26437242", "url": "https://glygen.org/publication/PubMed/26437242" } ] }, { "title": "GIMAP5 Deficiency Is Associated with Increased AKT Activity in T Lymphocytes.", "journal": "PloS one", "date": "2015", "authors": "Chen XL, Serrano D, Mayhue M, Hoebe K, Ilangumaran S, Ramanathan S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26440416", "url": "https://glygen.org/publication/PubMed/26440416" } ] }, { "title": "\u03b4-Tocopherol inhibits receptor tyrosine kinase-induced AKT activation in prostate cancer cells.", "journal": "Molecular carcinogenesis", "date": "2016-11", "authors": "Wang Hong, Hong Jungil, Yang Chung S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26465359", "url": "https://glygen.org/publication/PubMed/26465359" } ] }, { "title": "Akt inhibition improves irinotecan treatment and prevents cell emergence by switching the senescence response to apoptosis.", "journal": "Oncotarget", "date": "2015", "authors": "Vetillard A, Jonchere B, Moreau M, Toutain B, Henry C, Fontanel S, Bernard AC, Campone M, Guette C, Coqueret O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26485768", "url": "https://glygen.org/publication/PubMed/26485768" } ] }, { "title": "A putative biomarker signature for clinically effective AKT inhibition: correlation of in vitro, in vivo and clinical data identifies the importance of modulation of the mTORC1 pathway.", "journal": "Oncotarget", "date": "2015", "authors": "Cheraghchi-Bashi A, Parker CA, Curry E, Salazar JF, Gungor H, Saleem A, Cunnea P, Rama N, Salinas C, Mills GB, Morris SR, Kumar R, Gabra H, Stronach EA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26497682", "url": "https://glygen.org/publication/PubMed/26497682" } ] }, { "title": "Reciprocal feedback inhibition of the androgen receptor and PI3K as a novel therapy for castrate-sensitive and -resistant prostate cancer.", "journal": "Oncotarget", "date": "2015", "authors": "Qi W, Morales C, Cooke LS, Johnson B, Somer B, Mahadevan D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26506516", "url": "https://glygen.org/publication/PubMed/26506516" } ] }, { "title": "Dual mTORC1/2 inhibition by INK-128 results in antitumor activity in preclinical models of osteosarcoma.", "journal": "Biochemical and biophysical research communications", "date": "2015", "authors": "Jiang H, Zeng Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26514724", "url": "https://glygen.org/publication/PubMed/26514724" } ] }, { "title": "LGR5 regulates pro-survival MEK/ERK and proliferative Wnt/\u03b2-catenin signalling in neuroblastoma.", "journal": "Oncotarget", "date": "2015-11-24", "authors": "Vieira Gabriella Cunha, Chockalingam S, Melegh Zsombor, Greenhough Alexander, Malik Sally, Szemes Marianna, Park Ji Hyun, Kaidi Abderrahmane, Zhou Li, Catchpoole Daniel, Morgan Rhys, Bates David O, Gabb Peter David, Malik Karim", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26517508", "url": "https://glygen.org/publication/PubMed/26517508" } ] }, { "title": "The BH3-mimetic gossypol and noncytotoxic doses of valproic acid induce apoptosis by suppressing cyclin-A2/Akt/FOXO3a signaling.", "journal": "Oncotarget", "date": "2015", "authors": "Zhao GX, Xu LH, Pan H, Lin QR, Huang MY, Cai JY, Ouyang DY, He XH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26517515", "url": "https://glygen.org/publication/PubMed/26517515" } ] }, { "title": "Intracellular Networks of the PI3K/AKT and MAPK Pathways for Regulating Toxoplasma gondii-Induced IL-23 and IL-12 Production in Human THP-1 Cells.", "journal": "PloS one", "date": "2015", "authors": "Quan JH, Chu JQ, Kwon J, Choi IW, Ismail HA, Zhou W, Cha GH, Zhou Y, Yuk JM, Jo EK, Lee YH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26528819", "url": "https://glygen.org/publication/PubMed/26528819" } ] }, { "title": "Vertical Targeting of AKT and mTOR as Well as Dual Targeting of AKT and MEK Signaling Is Synergistic in Hepatocellular Carcinoma.", "journal": "Journal of Cancer", "date": "2015", "authors": "Ewald F, Norz D, Grottke A, Bach J, Herzberger C, Hofmann BT, Nashan B, Jucker M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26535060", "url": "https://glygen.org/publication/PubMed/26535060" } ] }, { "title": "The cytotoxic T cell proteome and its shaping by the kinase mTOR.", "journal": "Nature immunology", "date": "2016-01", "authors": "Hukelmann Jens L, Anderson Karen E, Sinclair Linda V, Grzes Katarzyna M, Murillo Alejandro Brenes, Hawkins Phillip T, Stephens Len R, Lamond Angus I, Cantrell Doreen A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26551880", "url": "https://glygen.org/publication/PubMed/26551880" } ] }, { "title": "Inhibition of PI3K Signalling Selectively Affects Medulloblastoma Cancer Stem Cells.", "journal": "BioMed research international", "date": "2015", "authors": "Frasson C, Rampazzo E, Accordi B, Beggio G, Pistollato F, Basso G, Persano L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26557719", "url": "https://glygen.org/publication/PubMed/26557719" } ] }, { "title": "Mdm20 Modulates Actin Remodeling through the mTORC2 Pathway via Its Effect on Rictor Expression.", "journal": "PloS one", "date": "2015", "authors": "Yasuda K, Takahashi M, Mori N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26600389", "url": "https://glygen.org/publication/PubMed/26600389" } ] }, { "title": "Smilax glabra Roxb targets Akt(p-Thr308) and inhibits Akt-mediated signaling pathways in SGC7901 cells.", "journal": "Journal of drug targeting", "date": "2016", "authors": "Hao G, Zheng J, Huo R, Li J, Wen K, Zhang Y, Liang G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26607178", "url": "https://glygen.org/publication/PubMed/26607178" } ] }, { "title": "Greatwall promotes cell transformation by hyperactivating AKT in human malignancies.", "journal": "eLife", "date": "2015", "authors": "Vera J, Lartigue L, Vigneron S, Gadea G, Gire V, Del Rio M, Soubeyran I, Chibon F, Lorca T, Castro A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26613407", "url": "https://glygen.org/publication/PubMed/26613407" } ] }, { "title": "Insulin Signaling in Bupivacaine-induced Cardiac Toxicity: Sensitization during Recovery and Potentiation by Lipid Emulsion.", "journal": "Anesthesiology", "date": "2016", "authors": "Fettiplace MR, Kowal K, Ripper R, Young A, Lis K, Rubinstein I, Bonini M, Minshall R, Weinberg G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26646023", "url": "https://glygen.org/publication/PubMed/26646023" } ] }, { "title": "Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome.", "journal": "Scientific reports", "date": "2015", "authors": "Lindhurst MJ, Yourick MR, Yu Y, Savage RE, Ferrari D, Biesecker LG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26657992", "url": "https://glygen.org/publication/PubMed/26657992" } ] }, { "title": "Juglanthraquinone C Induces Intracellular ROS Increase and Apoptosis by Activating the Akt/Foxo Signal Pathway in HCC Cells.", "journal": "Oxidative medicine and cellular longevity", "date": "2016", "authors": "Hou YQ, Yao Y, Bao YL, Song ZB, Yang C, Gao XL, Zhang WJ, Sun LG, Yu CL, Huang YX, Wang GN, Li YX", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26682007", "url": "https://glygen.org/publication/PubMed/26682007" } ] }, { "title": "MK2206 overcomes the resistance of human liver cancer stem cells to sorafenib by inhibition of pAkt and upregulation of pERK.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2016-06", "authors": "Zhai Beibei, Zhang Xiaofeng, Sun Bin, Cao Lu, Zhao Linlin, Li Jun, Ge Naijian, Chen Lei, Qian Haihua, Yin Zhengfeng", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26711788", "url": "https://glygen.org/publication/PubMed/26711788" } ] }, { "title": "Downregulation of AKT3 Increases Migration and Metastasis in Triple Negative Breast Cancer Cells by Upregulating S100A4.", "journal": "PloS one", "date": "2016", "authors": "Grottke A, Ewald F, Lange T, Norz D, Herzberger C, Bach J, Grabinski N, Graser L, Hoppner F, Nashan B, Schumacher U, Jucker M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26741489", "url": "https://glygen.org/publication/PubMed/26741489" } ] }, { "title": "Testosterone Antagonizes Doxorubicin-Induced Senescence of Cardiomyocytes.", "journal": "Journal of the American Heart Association", "date": "2016", "authors": "Altieri P, Barisione C, Lazzarini E, Garuti A, Bezante GP, Canepa M, Spallarossa P, Tocchetti CG, Bollini S, Brunelli C, Ameri P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26746999", "url": "https://glygen.org/publication/PubMed/26746999" } ] }, { "title": "Cadmium Activates Multiple Signaling Pathways That Coordinately Stimulate Akt Activity to Enhance c-Myc mRNA Stability.", "journal": "PloS one", "date": "2016", "authors": "Tsai JS, Chao CH, Lin LY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26751215", "url": "https://glygen.org/publication/PubMed/26751215" } ] }, { "title": "Activation of the MAPK/Akt/Nrf2-Egr1/HO-1-GCLc axis protects MG-63 osteosarcoma cells against 15d-PGJ2-mediated cell death.", "journal": "Biochemical pharmacology", "date": "2016", "authors": "Koyani CN, Kitz K, Rossmann C, Bernhart E, Huber E, Trummer C, Windischhofer W, Sattler W, Malle E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26801686", "url": "https://glygen.org/publication/PubMed/26801686" } ] }, { "title": "Targeting the mTOR Complex by Everolimus in NRAS Mutant Neuroblastoma.", "journal": "PloS one", "date": "2016", "authors": "Kiessling MK, Curioni-Fontecedro A, Samaras P, Lang S, Scharl M, Aguzzi A, Oldrige DA, Maris JM, Rogler G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26821351", "url": "https://glygen.org/publication/PubMed/26821351" } ] }, { "title": "Differential regulation of mTOR signaling determines sensitivity to AKT inhibition in diffuse large B cell lymphoma.", "journal": "Oncotarget", "date": "2016", "authors": "Ezell SA, Wang S, Bihani T, Lai Z, Grosskurth SE, Tepsuporn S, Davies BR, Huszar D, Byth KF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26824321", "url": "https://glygen.org/publication/PubMed/26824321" } ] }, { "title": "miR-126 Regulates Distinct Self-Renewal Outcomes in Normal and Malignant Hematopoietic Stem Cells.", "journal": "Cancer cell", "date": "2016", "authors": "Lechman ER, Gentner B, Ng SW, Schoof EM, van Galen P, Kennedy JA, Nucera S, Ciceri F, Kaufmann KB, Takayama N, Dobson SM, Trotman-Grant A, Krivdova G, Elzinga J, Mitchell A, Nilsson B, Hermans KG, Eppert K, Marke R, Isserlin R, Voisin V, Bader GD, Zandstra PW, Golub TR, Ebert BL, Lu J, Minden M, Wang JC, Naldini L, Dick JE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26832662", "url": "https://glygen.org/publication/PubMed/26832662" } ] }, { "title": "14-3-3 Proteins regulate Akt Thr308 phosphorylation in intestinal epithelial cells.", "journal": "Cell death and differentiation", "date": "2016-06", "authors": "G\u00f3mez-Su\u00e1rez M, Guti\u00e9rrez-Mart\u00ednez I Z, Hern\u00e1ndez-Trejo J A, Hern\u00e1ndez-Ruiz M, Su\u00e1rez-P\u00e9rez D, Candelario A, Kamekura R, Medina-Contreras O, Schnoor M, Ortiz-Navarrete V, Villegas-Sep\u00falveda N, Parkos C, Nusrat A, Nava P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26846144", "url": "https://glygen.org/publication/PubMed/26846144" } ] }, { "title": "Smad4-dependent suppressor pituitary homeobox 2 promotes PPP2R2A-mediated inhibition of Akt pathway in pancreatic cancer.", "journal": "Oncotarget", "date": "2016", "authors": "Wang Q, Li J, Wu W, Shen R, Jiang H, Qian Y, Tang Y, Bai T, Wu S, Wei L, Zang Y, Zhang J, Wang L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26848620", "url": "https://glygen.org/publication/PubMed/26848620" } ] }, { "title": "Glucosamine induces REDD1 to suppress insulin action in retinal Muller cells.", "journal": "Cellular signalling", "date": "2016", "authors": "Moore JA, Miller WP, Dennis MD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26852666", "url": "https://glygen.org/publication/PubMed/26852666" } ] }, { "title": "Resveratrol augments ER stress and the cytotoxic effects of glycolytic inhibition in neuroblastoma by downregulating Akt in a mechanism independent of SIRT1.", "journal": "Experimental & molecular medicine", "date": "2016", "authors": "Graham RM, Hernandez F, Puerta N, De Angulo G, Webster KA, Vanni S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26891914", "url": "https://glygen.org/publication/PubMed/26891914" } ] }, { "title": "AKT-p53 axis protect cancer cells from autophagic cell death during nutrition deprivation.", "journal": "Biochemical and biophysical research communications", "date": "2016", "authors": "Sudhagar S, Sathya S, Gokulapriya G, Lakshmi BS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26903300", "url": "https://glygen.org/publication/PubMed/26903300" } ] }, { "title": "CD133 promotes gallbladder carcinoma cell migration through activating Akt phosphorylation.", "journal": "Oncotarget", "date": "2016", "authors": "Li C, Wang C, Xing Y, Zhen J, Ai Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26910892", "url": "https://glygen.org/publication/PubMed/26910892" } ] }, { "title": "Overexpression of DJ-1/PARK7, the Parkinson's disease-related protein, improves mitochondrial function via Akt phosphorylation on threonine 308 in dopaminergic neuron-like cells.", "journal": "The European journal of neuroscience", "date": "2016-05", "authors": "Zhang Yi, Gong Xiao-Gang, Wang Zhen-Zhen, Sun Hong-Mei, Guo Zhen-Yu, Hu Jing-Hong, Ma Ling, Li Ping, Chen Nai-Hong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26913805", "url": "https://glygen.org/publication/PubMed/26913805" } ] }, { "title": "Inhibition of protein kinase CK2 by CX-5011 counteracts imatinib-resistance preventing rpS6 phosphorylation in chronic myeloid leukaemia cells: new combined therapeutic strategies.", "journal": "Oncotarget", "date": "2016", "authors": "Salizzato V, Borgo C, Cesaro L, Pinna LA, Donella-Deana A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26919095", "url": "https://glygen.org/publication/PubMed/26919095" } ] }, { "title": "Elevated autocrine chemokine ligand 18 expression promotes oral cancer cell growth and invasion via Akt activation.", "journal": "Oncotarget", "date": "2016-03-29", "authors": "Jiang Xiao, Wang Juan, Chen Xijuan, Hong Yun, Wu Tong, Chen Xiaobing, Xia Juan, Cheng Bin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26919103", "url": "https://glygen.org/publication/PubMed/26919103" } ] }, { "title": "The afatinib resistance of in vivo generated H1975 lung cancer cell clones is mediated by SRC/ERBB3/c-KIT/c-MET compensatory survival signaling.", "journal": "Oncotarget", "date": "2016", "authors": "Booth L, Roberts JL, Tavallai M, Webb T, Leon D, Chen J, McGuire WP, Poklepovic A, Dent P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26934000", "url": "https://glygen.org/publication/PubMed/26934000" } ] }, { "title": "An increase in galectin-3 causes cellular unresponsiveness to IFN-gamma-induced signal transduction and growth inhibition in gastric cancer cells.", "journal": "Oncotarget", "date": "2016", "authors": "Tseng PC, Chen CL, Shan YS, Lin CF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26934444", "url": "https://glygen.org/publication/PubMed/26934444" } ] }, { "title": "N-Hydroxyphthalimide exhibits antitumor activity by suppressing mTOR signaling pathway in BT-20 and LoVo cells.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2016", "authors": "Wang M, Zhou A, An T, Kong L, Yu C, Liu J, Xia C, Zhou H, Li Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26940018", "url": "https://glygen.org/publication/PubMed/26940018" } ] }, { "title": "APIP, an ERBB3-binding partner, stimulates erbB2-3 heterodimer formation to promote tumorigenesis.", "journal": "Oncotarget", "date": "2016", "authors": "Hong SH, Lee WJ, Kim YD, Kim H, Jeon YJ, Lim B, Cho DH, Heo WD, Yang DH, Kim CY, Yang HK, Yang JK, Jung YK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26942872", "url": "https://glygen.org/publication/PubMed/26942872" } ] }, { "title": "Capillary Isoelectric Focusing of Akt Isoforms Identifies Highly Dynamic Phosphorylation in Neuronal Cells and Brain Tissue.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Schrotter S, Leondaritis G, Eickholt BJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26945062", "url": "https://glygen.org/publication/PubMed/26945062" } ] }, { "title": "Asymmetric Dimethylarginine Stimulates Akt1 Phosphorylation via Heat Shock Protein 70-Facilitated Carboxyl-Terminal Modulator Protein Degradation in Pulmonary Arterial Endothelial Cells.", "journal": "American journal of respiratory cell and molecular biology", "date": "2016", "authors": "Sun X, Kellner M, Desai AA, Wang T, Lu Q, Kangath A, Qu N, Klinger C, Fratz S, Yuan JX, Jacobson JR, Garcia JG, Rafikov R, Fineman JR, Black SM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26959555", "url": "https://glygen.org/publication/PubMed/26959555" } ] }, { "title": "Notch signalling drives bone marrow stromal cell-mediated chemoresistance in acute myeloid leukemia.", "journal": "Oncotarget", "date": "2016", "authors": "Takam Kamga P, Bassi G, Cassaro A, Midolo M, Di Trapani M, Gatti A, Carusone R, Resci F, Perbellini O, Gottardi M, Bonifacio M, Nwabo Kamdje AH, Ambrosetti A, Krampera M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26967055", "url": "https://glygen.org/publication/PubMed/26967055" } ] }, { "title": "PTEN opposes negative selection and enables oncogenic transformation of pre-B cells.", "journal": "Nature medicine", "date": "2016", "authors": "Shojaee S, Chan LN, Buchner M, Cazzaniga V, Cosgun KN, Geng H, Qiu YH, von Minden MD, Ernst T, Hochhaus A, Cazzaniga G, Melnick A, Kornblau SM, Graeber TG, Wu H, Jumaa H, Muschen M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26974310", "url": "https://glygen.org/publication/PubMed/26974310" } ] }, { "title": "Fluvoxamine, an anti-depressant, inhibits human glioblastoma invasion by disrupting actin polymerization.", "journal": "Scientific reports", "date": "2016", "authors": "Hayashi K, Michiue H, Yamada H, Takata K, Nakayama H, Wei FY, Fujimura A, Tazawa H, Asai A, Ogo N, Miyachi H, Nishiki T, Tomizawa K, Takei K, Matsui H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26988603", "url": "https://glygen.org/publication/PubMed/26988603" } ] }, { "title": "Oncogenic AKT1(E17K) mutation induces mammary hyperplasia but prevents HER2-driven tumorigenesis.", "journal": "Oncotarget", "date": "2016", "authors": "Mancini ML, Lien EC, Toker A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27004402", "url": "https://glygen.org/publication/PubMed/27004402" } ] }, { "title": "Cell line with endogenous EGFRvIII expression is a suitable model for research and drug development purposes.", "journal": "Oncotarget", "date": "2016", "authors": "Stec WJ, Rosiak K, Siejka P, Peciak J, Popeda M, Banaszczyk M, Pawlowska R, Treda C, Hulas-Bigoszewska K, Piaskowski S, Stoczynska-Fidelus E, Rieske P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27004406", "url": "https://glygen.org/publication/PubMed/27004406" } ] }, { "title": "ZO-2 silencing induces renal hypertrophy through a cell cycle mechanism and the activation of YAP and the mTOR pathway.", "journal": "Molecular biology of the cell", "date": "2016-05-15", "authors": "Dom\u00ednguez-Calder\u00f3n Alaide, \u00c1vila-Flores Antonia, Ponce Arturo, L\u00f3pez-Bayghen Esther, Calder\u00f3n-Salinas Jos\u00e9-V\u00edctor, Luis Reyes Jos\u00e9, Ch\u00e1vez-Mungu\u00eda Bibiana, Segovia Jos\u00e9, Angulo Carla, Ram\u00edrez Leticia, Gallego-Guti\u00e9rrez Helios, Alarc\u00f3n Lourdes, Mart\u00edn-Tapia Dolores, Bautista-Garc\u00eda Pablo, Gonz\u00e1lez-Mariscal Lorenza", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27009203", "url": "https://glygen.org/publication/PubMed/27009203" } ] }, { "title": "Single-Molecule Analysis of Lipid-Protein Interactions in Crude Cell Lysates.", "journal": "Analytical chemistry", "date": "2016", "authors": "Arauz E, Aggarwal V, Jain A, Ha T, Chen J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27015152", "url": "https://glygen.org/publication/PubMed/27015152" } ] }, { "title": "mTORC1 is necessary but mTORC2 and GSK3beta are inhibitory for AKT3-induced axon regeneration in the central nervous system.", "journal": "eLife", "date": "2016", "authors": "Miao L, Yang L, Huang H, Liang F, Ling C, Hu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27026523", "url": "https://glygen.org/publication/PubMed/27026523" } ] }, { "title": "PI3K/Akt promotes feedforward mTORC2 activation through IKKalpha.", "journal": "Oncotarget", "date": "2016", "authors": "Dan HC, Antonia RJ, Baldwin AS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27027448", "url": "https://glygen.org/publication/PubMed/27027448" } ] }, { "title": "Chloroquine increases phosphorylation of AMPK and Akt in myotubes.", "journal": "Heliyon", "date": "2016", "authors": "Spears LD, Tran AV, Qin CY, Hobbs SB, Burns CA, Royer NK, Zhang Z, Ralston L, Fisher JS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27047993", "url": "https://glygen.org/publication/PubMed/27047993" } ] }, { "title": "Akt1-mediated Gata3 phosphorylation controls the repression of IFNgamma in memory-type Th2 cells.", "journal": "Nature communications", "date": "2016", "authors": "Hosokawa H, Tanaka T, Endo Y, Kato M, Shinoda K, Suzuki A, Motohashi S, Matsumoto M, Nakayama KI, Nakayama T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27053161", "url": "https://glygen.org/publication/PubMed/27053161" } ] }, { "title": "Dual inhibition of AKT/FLT3-ITD by A674563 overcomes FLT3 ligand-induced drug resistance in FLT3-ITD positive AML.", "journal": "Oncotarget", "date": "2016", "authors": "Wang A, Wu H, Chen C, Hu C, Qi Z, Wang W, Yu K, Liu X, Zou F, Zhao Z, Wu J, Liu J, Liu F, Wang L, Stone RM, Galinksy IA, Griffin JD, Zhang S, Weisberg EL, Liu J, Liu Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27074558", "url": "https://glygen.org/publication/PubMed/27074558" } ] }, { "title": "Tuning of AKT-pathway by Nef and its blockade by protease inhibitors results in limited recovery in latently HIV infected T-cell line.", "journal": "Scientific reports", "date": "2016", "authors": "Kumar A, Abbas W, Colin L, Khan KA, Bouchat S, Varin A, Larbi A, Gatot JS, Kabeya K, Vanhulle C, Delacourt N, Pasquereau S, Coquard L, Borch A, Konig R, Clumeck N, De Wit S, Rohr O, Rouzioux C, Fulop T, Van Lint C, Herbein G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27076174", "url": "https://glygen.org/publication/PubMed/27076174" } ] }, { "title": "Calpain-2 activates Akt via TGF-beta1-mTORC2 pathway in pulmonary artery smooth muscle cells.", "journal": "American journal of physiology. Cell physiology", "date": "2016", "authors": "Abeyrathna P, Kovacs L, Han W, Su Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27099352", "url": "https://glygen.org/publication/PubMed/27099352" } ] }, { "title": "SK3/TRPC1/Orai1 complex regulates SOCE-dependent colon cancer cell migration: a novel opportunity to modulate anti-EGFR mAb action by the alkyl-lipid Ohmline.", "journal": "Oncotarget", "date": "2016-06-14", "authors": "Gu\u00e9guinou Maxime, Harnois Thomas, Crottes David, Uguen Arnaud, Deliot Nadine, Gambade Audrey, Chant\u00f4me Aur\u00e9lie, Haelters Jean Pierre, Jaffr\u00e8s Paul Alain, Jourdan Marie Lise, Weber G\u00fcnther, Soriani Olivier, Bougnoux Philippe, Mignen Olivier, Bourmeyster Nicolas, Constantin Bruno, Lecomte Thierry, Vandier Christophe, Potier-Cartereau Marie", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27102434", "url": "https://glygen.org/publication/PubMed/27102434" } ] }, { "title": "The transcription factor RUNX2 regulates receptor tyrosine kinase expression in melanoma.", "journal": "Oncotarget", "date": "2016", "authors": "Boregowda RK, Medina DJ, Markert E, Bryan MA, Chen W, Chen S, Rabkin A, Vido MJ, Gunderson SI, Chekmareva M, Foran DJ, Lasfar A, Goydos JS, Cohen-Solal KA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27102439", "url": "https://glygen.org/publication/PubMed/27102439" } ] }, { "title": "Dual Targeting of Akt and mTORC1 Impairs Repair of DNA Double-Strand Breaks and Increases Radiation Sensitivity of Human Tumor Cells.", "journal": "PloS one", "date": "2016", "authors": "Holler M, Grottke A, Mueck K, Manes J, Jucker M, Rodemann HP, Toulany M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27137757", "url": "https://glygen.org/publication/PubMed/27137757" } ] }, { "title": "PKG II reverses HGF-triggered cellular activities by phosphorylating serine 985 of c-Met in gastric cancer cells.", "journal": "Oncotarget", "date": "2016", "authors": "Wu Y, Yao X, Zhu M, Qian H, Jiang L, Lan T, Wu M, Pang J, Chen Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27147579", "url": "https://glygen.org/publication/PubMed/27147579" } ] }, { "title": "The pyrrolo-1,5-benzoxazepine, PBOX-15, enhances TRAILinduced apoptosis by upregulation of DR5 and downregulation of core cell survival proteins in acute lymphoblastic leukaemia cells.", "journal": "International journal of oncology", "date": "2016", "authors": "Nathwani SM, Greene LM, Butini S, Campiani G, Williams DC, Samali A, Szegezdi E, Zisterer DM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27176505", "url": "https://glygen.org/publication/PubMed/27176505" } ] }, { "title": "Thrombin Receptor-Activating Protein (TRAP)-Activated Akt Is Involved in the Release of Phosphorylated-HSP27 (HSPB1) from Platelets in DM Patients.", "journal": "International journal of molecular sciences", "date": "2016", "authors": "Tokuda H, Kuroyanagi G, Tsujimoto M, Matsushima-Nishiwaki R, Akamatsu S, Enomoto Y, Iida H, Otsuka T, Ogura S, Iwama T, Kojima K, Kozawa O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27187380", "url": "https://glygen.org/publication/PubMed/27187380" } ] }, { "title": "Methylation-mediated repression of microRNA-129-2 suppresses cell aggressiveness by inhibiting high mobility group box 1 in human hepatocellular carcinoma.", "journal": "Oncotarget", "date": "2016-06-14", "authors": "Liu Zhikui, Dou Changwei, Yao Bowen, Xu Meng, Ding Linglong, Wang Yufeng, Jia Yuli, Li Qing, Zhang Hongyong, Tu Kangsheng, Song Tao, Liu Qingguang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27191994", "url": "https://glygen.org/publication/PubMed/27191994" } ] }, { "title": "Fibroblast growth factor receptor 4 (FGFR4) and fibroblast growth factor 19 (FGF19) autocrine enhance breast cancer cells survival.", "journal": "Oncotarget", "date": "2016", "authors": "Tiong KH, Tan BS, Choo HL, Chung FF, Hii LW, Tan SH, Khor NT, Wong SF, See SJ, Tan YF, Rosli R, Cheong SK, Leong CO", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27192118", "url": "https://glygen.org/publication/PubMed/27192118" } ] }, { "title": "Insulin-Dependent Regulation of mTORC2-Akt-FoxO Suppresses TLR4 Signaling in Human Leukocytes: Relevance to Type 2 Diabetes.", "journal": "Diabetes", "date": "2016", "authors": "Zhang Z, Amorosa LF, Coyle SM, Macor MA, Birnbaum MJ, Lee LY, Haimovich B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27207509", "url": "https://glygen.org/publication/PubMed/27207509" } ] }, { "title": "Cell type-dependent Erk-Akt pathway crosstalk regulates the proliferation of fetal neural progenitor cells.", "journal": "Scientific reports", "date": "2016", "authors": "Rhim JH, Luo X, Gao D, Xu X, Zhou T, Li F, Wang P, Wong ST, Xia X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27211495", "url": "https://glygen.org/publication/PubMed/27211495" } ] }, { "title": "Phosphorylation-dependent Akt-Inversin interaction at the basal body of primary cilia.", "journal": "The EMBO journal", "date": "2016", "authors": "Suizu F, Hirata N, Kimura K, Edamura T, Tanaka T, Ishigaki S, Donia T, Noguchi H, Iwanaga T, Noguchi M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27220846", "url": "https://glygen.org/publication/PubMed/27220846" } ] }, { "title": "PTEN negatively regulates mTORC2 formation and signaling in grade IV glioma via Rictor hyperphosphorylation at Thr1135 and direct the mode of action of an mTORC1/2 inhibitor.", "journal": "Oncogenesis", "date": "2016", "authors": "Bhattacharya K, Maiti S, Mandal C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27239959", "url": "https://glygen.org/publication/PubMed/27239959" } ] }, { "title": "Tamoxifen-induced cytotoxicity in breast cancer cells is mediated by glucose-regulated protein 78 (GRP78) via AKT (Thr308) regulation.", "journal": "The international journal of biochemistry & cell biology", "date": "2016", "authors": "Pujari R, Jose J, Bhavnani V, Kumar N, Shastry P, Pal JK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27262235", "url": "https://glygen.org/publication/PubMed/27262235" } ] }, { "title": "Musashi-1 regulates AKT-derived IL-6 autocrinal/paracrinal malignancy and chemoresistance in glioblastoma.", "journal": "Oncotarget", "date": "2016", "authors": "Chen HY, Lin LT, Wang ML, Lee SH, Tsai ML, Tsai CC, Liu WH, Chen TC, Yang YP, Lee YY, Chang YL, Huang PI, Chen YW, Lo WL, Chiou SH, Chen MT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27285760", "url": "https://glygen.org/publication/PubMed/27285760" } ] }, { "title": "Nanoparticle Delivered Human Biliverdin Reductase-Based Peptide Increases Glucose Uptake by Activating IRK/Akt/GSK3 Axis: The Peptide Is Effective in the Cell and Wild-Type and Diabetic Ob/Ob Mice.", "journal": "Journal of diabetes research", "date": "2016", "authors": "Gibbs PE, Miralem T, Lerner-Marmarosh N, Maines MD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27294151", "url": "https://glygen.org/publication/PubMed/27294151" } ] }, { "title": "Giant obscurins regulate the PI3K cascade in breast epithelial cells via direct binding to the PI3K/p85 regulatory subunit.", "journal": "Oncotarget", "date": "2016", "authors": "Shriver M, Marimuthu S, Paul C, Geist J, Seale T, Konstantopoulos K, Kontrogianni-Konstantopoulos A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27323778", "url": "https://glygen.org/publication/PubMed/27323778" } ] }, { "title": "Thioredoxin reductase 1 suppresses adipocyte differentiation and insulin responsiveness.", "journal": "Scientific reports", "date": "2016", "authors": "Peng X, Gimenez-Cassina A, Petrus P, Conrad M, Ryden M, Arner ES", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27346647", "url": "https://glygen.org/publication/PubMed/27346647" } ] }, { "title": "The anti-cancer activity of the mTORC1/2 dual inhibitor XL388 in preclinical osteosarcoma models.", "journal": "Oncotarget", "date": "2016-08-02", "authors": "Zhu Yun-Rong, Zhou Xiao-Zhong, Zhu Lun-Qing, Yao Chen, Fang Jian-Feng, Zhou Feng, Deng Xiong-Wei, Zhang Yun-Qing", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27385099", "url": "https://glygen.org/publication/PubMed/27385099" } ] }, { "title": "Protein kinase A can block EphA2 receptor-mediated cell repulsion by increasing EphA2 S897 phosphorylation.", "journal": "Molecular biology of the cell", "date": "2016", "authors": "Barquilla A, Lamberto I, Noberini R, Heynen-Genel S, Brill LM, Pasquale EB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27385333", "url": "https://glygen.org/publication/PubMed/27385333" } ] }, { "title": "Two new competing pathways establish the threshold for cyclin-B-Cdk1 activation at the meiotic G2/M transition.", "journal": "Journal of cell science", "date": "2016", "authors": "Hiraoka D, Aono R, Hanada S, Okumura E, Kishimoto T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27390173", "url": "https://glygen.org/publication/PubMed/27390173" } ] }, { "title": "Connexin43 recruits PTEN and Csk to inhibit c-Src activity in glioma cells and astrocytes.", "journal": "Oncotarget", "date": "2016", "authors": "Gonzalez-Sanchez A, Jaraiz-Rodriguez M, Dominguez-Prieto M, Herrero-Gonzalez S, Medina JM, Tabernero A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27391443", "url": "https://glygen.org/publication/PubMed/27391443" } ] }, { "title": "CTMP, a predictive biomarker for trastuzumab resistance in HER2-enriched breast cancer patient.", "journal": "Oncotarget", "date": "2017", "authors": "Chen YC, Li HY, Liang JL, Ger LP, Chang HT, Hsiao M, Calkins MJ, Cheng HC, Chuang JH, Lu PJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27447863", "url": "https://glygen.org/publication/PubMed/27447863" } ] }, { "title": "PDK1-SGK1 Signaling Sustains AKT-Independent mTORC1 Activation and Confers Resistance to PI3K\u03b1 Inhibition.", "journal": "Cancer cell", "date": "2016-08-08", "authors": "Castel Pau, Ellis Haley, Bago Ruzica, Toska Eneda, Razavi Pedram, Carmona F Javier, Kannan Srinivasaraghavan, Verma Chandra S, Dickler Maura, Chandarlapaty Sarat, Brogi Edi, Alessi Dario R, Baselga Jos\u00e9, Scaltriti Maurizio", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27451907", "url": "https://glygen.org/publication/PubMed/27451907" } ] }, { "title": "MK-2206 sensitizes BRCA-deficient epithelial ovarian adenocarcinoma to cisplatin and olaparib.", "journal": "BMC cancer", "date": "2016-07-27", "authors": "Whicker Margaret E, Lin Z Ping, Hanna Ruth, Sartorelli Alan C, Ratner Elena S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27465688", "url": "https://glygen.org/publication/PubMed/27465688" } ] }, { "title": "PI-103 and Quercetin Attenuate PI3K-AKT Signaling Pathway in T- Cell Lymphoma Exposed to Hydrogen Peroxide.", "journal": "PloS one", "date": "2016", "authors": "Maurya AK, Vinayak M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27494022", "url": "https://glygen.org/publication/PubMed/27494022" } ] }, { "title": "Healthy CD4+ T lymphocytes are not affected by targeted therapies against the PI3K/Akt/mTOR pathway in T-cell acute lymphoblastic leukemia.", "journal": "Oncotarget", "date": "2016", "authors": "Alameen AA, Simioni C, Martelli AM, Zauli G, Ultimo S, McCubrey JA, Gonelli A, Marisi G, Ulivi P, Capitani S, Neri LM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27494886", "url": "https://glygen.org/publication/PubMed/27494886" } ] }, { "title": "Hop derived flavonoid xanthohumol inhibits endothelial cell functions via AMPK activation.", "journal": "Oncotarget", "date": "2016", "authors": "Gallo C, Dallaglio K, Bassani B, Rossi T, Rossello A, Noonan DM, D'Uva G, Bruno A, Albini A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27494895", "url": "https://glygen.org/publication/PubMed/27494895" } ] }, { "title": "Novel B55alpha-PP2A mutations in AML promote AKT T308 phosphorylation and sensitivity to AKT inhibitor-induced growth arrest.", "journal": "Oncotarget", "date": "2016", "authors": "Shouse G, de Necochea-Campion R, Mirshahidi S, Liu X, Chen CS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27531894", "url": "https://glygen.org/publication/PubMed/27531894" } ] }, { "title": "Neuroprotective levels of IGF-1 exacerbate epileptogenesis after brain injury.", "journal": "Scientific reports", "date": "2016-08-26", "authors": "Song Yu, Pimentel Corrin, Walters Katherine, Boller Lauren, Ghiasvand Shabnam, Liu Jing, Staley Kevin J, Berdichevsky Yevgeny", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27561791", "url": "https://glygen.org/publication/PubMed/27561791" } ] }, { "title": "Phosphoproteomic Analyses of Interleukin 2 Signaling Reveal Integrated JAK Kinase-Dependent and -Independent Networks in CD8(+) T Cells.", "journal": "Immunity", "date": "2016-09-20", "authors": "Ross Sarah H, Rollings Christina, Anderson Karen E, Hawkins Phillip T, Stephens Len R, Cantrell Doreen A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27566939", "url": "https://glygen.org/publication/PubMed/27566939" } ] }, { "title": "In B cells, phosphatidylinositol 5-phosphate 4-kinase-alpha synthesizes PI(4,5)P2 to impact mTORC2 and Akt signaling.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2016", "authors": "Bulley SJ, Droubi A, Clarke JH, Anderson KE, Stephens LR, Hawkins PT, Irvine RF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27601656", "url": "https://glygen.org/publication/PubMed/27601656" } ] }, { "title": "Heat Stress-Induced PI3K/mTORC2-Dependent AKT Signaling Is a Central Mediator of Hepatocellular Carcinoma Survival to Thermal Ablation Induced Heat Stress.", "journal": "PloS one", "date": "2016", "authors": "Thompson Scott M, Callstrom Matthew R, Jondal Danielle E, Butters Kim A, Knudsen Bruce E, Anderson Jill L, Lien Karen R, Sutor Shari L, Lee Ju-Seog, Thorgeirsson Snorri S, Grande Joseph P, Roberts Lewis R, Woodrum David A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27611696", "url": "https://glygen.org/publication/PubMed/27611696" } ] }, { "title": "Benzylglucosinolate Derived Isothiocyanate from Tropaeolum majus Reduces Gluconeogenic Gene and Protein Expression in Human Cells.", "journal": "PloS one", "date": "2016", "authors": "Guzman-Perez V, Bumke-Vogt C, Schreiner M, Mewis I, Borchert A, Pfeiffer AF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27622707", "url": "https://glygen.org/publication/PubMed/27622707" } ] }, { "title": "The oncometabolite 2-hydroxyglutarate activates the mTOR signalling pathway.", "journal": "Nature communications", "date": "2016", "authors": "Carbonneau M, M Gagne L, Lalonde ME, Germain MA, Motorina A, Guiot MC, Secco B, Vincent EE, Tumber A, Hulea L, Bergeman J, Oppermann U, Jones RG, Laplante M, Topisirovic I, Petrecca K, Huot ME, Mallette FA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27624942", "url": "https://glygen.org/publication/PubMed/27624942" } ] }, { "title": "SMYD3-mediated lysine methylation in the PH domain is critical for activation of AKT1.", "journal": "Oncotarget", "date": "2016", "authors": "Yoshioka Y, Suzuki T, Matsuo Y, Nakakido M, Tsurita G, Simone C, Watanabe T, Dohmae N, Nakamura Y, Hamamoto R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27626683", "url": "https://glygen.org/publication/PubMed/27626683" } ] }, { "title": "Regulation of Lipolysis and Adipose Tissue Signaling during Acute Endotoxin-Induced Inflammation: A Human Randomized Crossover Trial.", "journal": "PloS one", "date": "2016", "authors": "Rittig Nikolaj, Bach Ermina, Thomsen Henrik Holm, Pedersen Steen B\u00f8nlykke, Nielsen Thomas Sava, J\u00f8rgensen Jens O, Jessen Niels, M\u00f8ller Niels", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27627109", "url": "https://glygen.org/publication/PubMed/27627109" } ] }, { "title": "CDK1-PDK1-PI3K/Akt signaling pathway regulates embryonic and induced pluripotency.", "journal": "Cell death and differentiation", "date": "2017", "authors": "Wang XQ, Lo CM, Chen L, Ngan ES, Xu A, Poon RY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27636107", "url": "https://glygen.org/publication/PubMed/27636107" } ] }, { "title": "Heat Stress Modulates Both Anabolic and Catabolic Signaling Pathways Preventing Dexamethasone-Induced Muscle Atrophy In Vitro.", "journal": "Journal of cellular physiology", "date": "2017", "authors": "Tsuchida W, Iwata M, Akimoto T, Matsuo S, Asai Y, Suzuki S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27649272", "url": "https://glygen.org/publication/PubMed/27649272" } ] }, { "title": "Geridonin and paclitaxel act synergistically to inhibit the proliferation of gastric cancer cells through ROS-mediated regulation of the PTEN/PI3K/Akt pathway.", "journal": "Oncotarget", "date": "2016", "authors": "Wang SQ, Wang C, Chang LM, Zhou KR, Wang JW, Ke Y, Yang DX, Shi HG, Wang R, Shi XL, Ma LY, Liu HM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27659528", "url": "https://glygen.org/publication/PubMed/27659528" } ] }, { "title": "Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.", "journal": "Nature genetics", "date": "2016", "authors": "Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A, Moise M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischke P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27694961", "url": "https://glygen.org/publication/PubMed/27694961" } ] }, { "title": "Myo-Inositol Safety in Pregnancy: From Preimplantation Development to Newborn Animals.", "journal": "International journal of endocrinology", "date": "2016", "authors": "Ku\u015fcu Nilay, Bizzarri Mariano, Bevilacqua Arturo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27698667", "url": "https://glygen.org/publication/PubMed/27698667" } ] }, { "title": "The prosurvival protein BAG3: a new participant in vascular homeostasis.", "journal": "Cell death & disease", "date": "2016-10-20", "authors": "Carrizzo Albino, Damato Antonio, Ambrosio Mariateresa, Falco Antonia, Rosati Alessandra, Capunzo Mario, Madonna Michele, Turco Maria C, Januzzi James L, De Laurenzi Vincenzo, Vecchione Carmine", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27763645", "url": "https://glygen.org/publication/PubMed/27763645" } ] }, { "title": "Human Serum Albumin (HSA) Suppresses the Effects of Glycerol Monolaurate (GML) on Human T Cell Activation and Function.", "journal": "PloS one", "date": "2016", "authors": "Zhang Michael S, Houtman Jon C D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27764189", "url": "https://glygen.org/publication/PubMed/27764189" } ] }, { "title": "Non-immunosuppressive triazole-based small molecule induces anticancer activity against human hormone-refractory prostate cancers: the role in inhibition of PI3K/AKT/mTOR and c-Myc signaling pathways.", "journal": "Oncotarget", "date": "2016", "authors": "Leu WJ, Swain ShP, Chan SH, Hsu JL, Liu SP, Chan ML, Yu CC, Hsu LC, Chou YL, Chang WL, Hou DR, Guh JH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27769069", "url": "https://glygen.org/publication/PubMed/27769069" } ] }, { "title": "Salt-inducible kinase 2 and -3 are downregulated in adipose tissue from obese or insulin-resistant individuals: implications for insulin signalling and glucose uptake in human adipocytes.", "journal": "Diabetologia", "date": "2017", "authors": "Sall J, Pettersson AM, Bjork C, Henriksson E, Wasserstrom S, Linder W, Zhou Y, Hansson O, Andersson DP, Ekelund M, Degerman E, Stenkula KG, Laurencikiene J, Goransson O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27807598", "url": "https://glygen.org/publication/PubMed/27807598" } ] }, { "title": "MicroRNA-222-3p/GNAI2/AKT axis inhibits epithelial ovarian cancer cell growth and associates with good overall survival.", "journal": "Oncotarget", "date": "2016", "authors": "Fu X, Li Y, Alvero A, Li J, Wu Q, Xiao Q, Peng Y, Hu Y, Li X, Yan W, Guo K, Zhou W, Wang Y, Liu J, Zhang Y, Mor G, Wen J, Yin G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27811362", "url": "https://glygen.org/publication/PubMed/27811362" } ] }, { "title": "PTEN dephosphorylates AKT to prevent the expression of GLUT1 on plasmamembrane and to limit glucose consumption in cancer cells.", "journal": "Oncotarget", "date": "2016", "authors": "Phadngam S, Castiglioni A, Ferraresi A, Morani F, Follo C, Isidoro C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27829222", "url": "https://glygen.org/publication/PubMed/27829222" } ] }, { "title": "Gremlin promotes retinal pigmentation epithelial (RPE) cell proliferation, migration and VEGF production via activating VEGFR2-Akt-mTORC2 signaling.", "journal": "Oncotarget", "date": "2017", "authors": "Liu Y, Chen Z, Cheng H, Chen J, Qian J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27894090", "url": "https://glygen.org/publication/PubMed/27894090" } ] }, { "title": "Optogenetic clustering of CNK1 reveals mechanistic insights in RAF and AKT signalling controlling cell fate decisions.", "journal": "Scientific reports", "date": "2016", "authors": "Fischer A, Warscheid B, Weber W, Radziwill G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27901111", "url": "https://glygen.org/publication/PubMed/27901111" } ] }, { "title": "DYRK1B blocks canonical and promotes non-canonical Hedgehog signaling through activation of the mTOR/AKT pathway.", "journal": "Oncotarget", "date": "2017", "authors": "Singh R, Dhanyamraju PK, Lauth M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27903983", "url": "https://glygen.org/publication/PubMed/27903983" } ] }, { "title": "The tissue inhibitor of metalloproteinases-1 (TIMP-1) promotes survival and migration of acute myeloid leukemia cells through CD63/PI3K/Akt/p21 signaling.", "journal": "Oncotarget", "date": "2017", "authors": "Forte D, Salvestrini V, Corradi G, Rossi L, Catani L, Lemoli RM, Cavo M, Curti A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27903985", "url": "https://glygen.org/publication/PubMed/27903985" } ] }, { "title": "Targeting LOXL2 for cardiac interstitial fibrosis and heart failure treatment.", "journal": "Nature communications", "date": "2016", "authors": "Yang J, Savvatis K, Kang JS, Fan P, Zhong H, Schwartz K, Barry V, Mikels-Vigdal A, Karpinski S, Kornyeyev D, Adamkewicz J, Feng X, Zhou Q, Shang C, Kumar P, Phan D, Kasner M, Lopez B, Diez J, Wright KC, Kovacs RL, Chen PS, Quertermous T, Smith V, Yao L, Tschope C, Chang CP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27966531", "url": "https://glygen.org/publication/PubMed/27966531" } ] }, { "title": "The RAS-related GTPase RHOB confers resistance to EGFR-tyrosine kinase inhibitors in non-small-cell lung cancer via an AKT-dependent mechanism.", "journal": "EMBO molecular medicine", "date": "2017", "authors": "Calvayrac O, Mazieres J, Figarol S, Marty-Detraves C, Raymond-Letron I, Bousquet E, Farella M, Clermont-Taranchon E, Milia J, Rouquette I, Guibert N, Lusque A, Cadranel J, Mathiot N, Savina A, Pradines A, Favre G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28003335", "url": "https://glygen.org/publication/PubMed/28003335" } ] }, { "title": "Positive feedback loop of IL-1beta/Akt/RARalpha/Akt signaling mediates oncogenic property of RARalpha in gastric carcinoma.", "journal": "Oncotarget", "date": "2017", "authors": "Ren HY, Liu F, Huang GL, Liu Y, Shen JX, Zhou P, Liu WM, Shen DY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28035062", "url": "https://glygen.org/publication/PubMed/28035062" } ] }, { "title": "Reprogramming antitumor immunity against chemoresistant ovarian cancer by a CXCR4 antagonist-armed viral oncotherapy.", "journal": "Molecular therapy oncolytics", "date": "2016", "authors": "Komorowski MP, McGray AR, Kolakowska A, Eng K, Gil M, Opyrchal M, Litwinska B, Nemeth MJ, Odunsi KO, Kozbor D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28035333", "url": "https://glygen.org/publication/PubMed/28035333" } ] }, { "title": "Integrin alpha6 promotes esophageal cancer metastasis and is targeted by miR-92b.", "journal": "Oncotarget", "date": "2017", "authors": "Ma G, Jing C, Huang F, Li X, Cao X, Liu Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28036265", "url": "https://glygen.org/publication/PubMed/28036265" } ] }, { "title": "Phospho-Akt overexpression is prognostic and can be used to tailor the synergistic interaction of Akt inhibitors with gemcitabine in pancreatic cancer.", "journal": "Journal of hematology & oncology", "date": "2017", "authors": "Massihnia D, Avan A, Funel N, Maftouh M, van Krieken A, Granchi C, Raktoe R, Boggi U, Aicher B, Minutolo F, Russo A, Leon LG, Peters GJ, Giovannetti E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28061880", "url": "https://glygen.org/publication/PubMed/28061880" } ] }, { "title": "SDF-1alpha/CXCR4 Signaling in Lipid Rafts Induces Platelet Aggregation via PI3 Kinase-Dependent Akt Phosphorylation.", "journal": "PloS one", "date": "2017", "authors": "Ohtsuka H, Iguchi T, Hayashi M, Kaneda M, Iida K, Shimonaka M, Hara T, Arai M, Koike Y, Yamamoto N, Kasahara K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28072855", "url": "https://glygen.org/publication/PubMed/28072855" } ] }, { "title": "Cudraflavone C Induces Tumor-Specific Apoptosis in Colorectal Cancer Cells through Inhibition of the Phosphoinositide 3-Kinase (PI3K)-AKT Pathway.", "journal": "PloS one", "date": "2017", "authors": "Soo Hsien-Chuen, Chung Felicia Fei-Lei, Lim Kuan-Hon, Yap Veronica Alicia, Bradshaw Tracey D, Hii Ling-Wei, Tan Si-Hoey, See Sze-Jia, Tan Yuen-Fen, Leong Chee-Onn, Mai Chun-Wai", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28107519", "url": "https://glygen.org/publication/PubMed/28107519" } ] }, { "title": "BX-795 inhibits HSV-1 and HSV-2 replication by blocking the JNK/p38 pathways without interfering with PDK1 activity in host cells.", "journal": "Acta pharmacologica Sinica", "date": "2017-03", "authors": "Su Ai-Rong, Qiu Min, Li Yan-Lei, Xu Wen-Tao, Song Si-Wei, Wang Xiao-Hui, Song Hong-Yong, Zheng Nan, Wu Zhi-Wei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28112176", "url": "https://glygen.org/publication/PubMed/28112176" } ] }, { "title": "Ladarixin, a dual CXCR1/2 inhibitor, attenuates experimental melanomas harboring different molecular defects by affecting malignant cells and tumor microenvironment.", "journal": "Oncotarget", "date": "2017", "authors": "Kemp DM, Pidich A, Larijani M, Jonas R, Lash E, Sato T, Terai M, De Pizzol M, Allegretti M, Igoucheva O, Alexeev V", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28129639", "url": "https://glygen.org/publication/PubMed/28129639" } ] }, { "title": "Loss of PFKFB4 induces cell death in mitotically arrested ovarian cancer cells.", "journal": "Oncotarget", "date": "2017", "authors": "Taylor C, Mannion D, Miranda F, Karaminejadranjbar M, Herrero-Gonzalez S, Hellner K, Zheng Y, Bartholomeusz G, Bast RC Jr, Ahmed AA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28152500", "url": "https://glygen.org/publication/PubMed/28152500" } ] }, { "title": "Thymosin beta 10 is a key regulator of tumorigenesis and metastasis and a novel serum marker in breast cancer.", "journal": "Breast cancer research : BCR", "date": "2017", "authors": "Zhang X, Ren D, Guo L, Wang L, Wu S, Lin C, Ye L, Zhu J, Li J, Song L, Lin H, He Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28179017", "url": "https://glygen.org/publication/PubMed/28179017" } ] }, { "title": "Tetraspanin 8 is a novel regulator of ILK-driven beta1 integrin adhesion and signaling in invasive melanoma cells.", "journal": "Oncotarget", "date": "2017", "authors": "El Kharbili M, Robert C, Witkowski T, Danty-Berger E, Barbollat-Boutrand L, Masse I, Gadot N, de la Fouchardiere A, McDonald PC, Dedhar S, Le Naour F, Degoul F, Berthier-Vergnes O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28188308", "url": "https://glygen.org/publication/PubMed/28188308" } ] }, { "title": "Novel involvement of RhebL1 in sphingosylphosphorylcholine-induced keratin phosphorylation and reorganization: Binding to and activation of AKT1.", "journal": "Oncotarget", "date": "2017", "authors": "Kim HJ, Byun HJ, Park MK, Kim EJ, Kang GJ, Lee CH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28209923", "url": "https://glygen.org/publication/PubMed/28209923" } ] }, { "title": "The LINK-A lncRNA interacts with PtdIns(3,4,5)P3 to hyperactivate AKT and confer resistance to AKT inhibitors.", "journal": "Nature cell biology", "date": "2017", "authors": "Lin A, Hu Q, Li C, Xing Z, Ma G, Wang C, Li J, Ye Y, Yao J, Liang K, Wang S, Park PK, Marks JR, Zhou Y, Zhou J, Hung MC, Liang H, Hu Z, Shen H, Hawke DH, Han L, Zhou Y, Lin C, Yang L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28218907", "url": "https://glygen.org/publication/PubMed/28218907" } ] }, { "title": "Osteosarcoma cell proliferation and survival requires mGluR5 receptor activity and is blocked by Riluzole.", "journal": "PloS one", "date": "2017", "authors": "Liao S, Ruiz Y, Gulzar H, Yelskaya Z, Ait Taouit L, Houssou M, Jaikaran T, Schvarts Y, Kozlitina K, Basu-Roy U, Mansukhani A, Mahajan SS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28231291", "url": "https://glygen.org/publication/PubMed/28231291" } ] }, { "title": "Cinchonine induces apoptosis of HeLa and A549 cells through targeting TRAF6.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2017", "authors": "Qi Y, Pradipta AR, Li M, Zhao X, Lu L, Fu X, Wei J, Hsung RP, Tanaka K, Zhou L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28231796", "url": "https://glygen.org/publication/PubMed/28231796" } ] }, { "title": "cAMP signaling increases histone deacetylase 8 expression via the Epac2-Rap1A-Akt pathway in H1299 lung cancer cells.", "journal": "Experimental & molecular medicine", "date": "2017", "authors": "Park JY, Juhnn YS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28232663", "url": "https://glygen.org/publication/PubMed/28232663" } ] }, { "title": "Gab3 overexpression in human glioma mediates Akt activation and tumor cell proliferation.", "journal": "PloS one", "date": "2017", "authors": "Jia P, Li F, Gu W, Zhang W, Cai Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28291820", "url": "https://glygen.org/publication/PubMed/28291820" } ] }, { "title": "The allosteric AKT inhibitor MK2206 shows a synergistic interaction with chemotherapy and radiotherapy in glioblastoma spheroid cultures.", "journal": "BMC cancer", "date": "2017", "authors": "Narayan RS, Fedrigo CA, Brands E, Dik R, Stalpers LJ, Baumert BG, Slotman BJ, Westerman BA, Peters GJ, Sminia P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28320338", "url": "https://glygen.org/publication/PubMed/28320338" } ] }, { "title": "Effects of miR-145-5p through NRAS on the cell proliferation, apoptosis, migration, and invasion in melanoma by inhibiting MAPK and PI3K/AKT pathways.", "journal": "Cancer medicine", "date": "2017", "authors": "Liu S, Gao G, Yan D, Chen X, Yao X, Guo S, Li G, Zhao Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28332309", "url": "https://glygen.org/publication/PubMed/28332309" } ] }, { "title": "miR-18a counteracts AKT and ERK activation to inhibit the proliferation of pancreatic progenitor cells.", "journal": "Scientific reports", "date": "2017", "authors": "Li X, Zhang Z, Li Y, Zhao Y, Zhai W, Yang L, Kong D, Wu C, Chen Z, Teng CB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28332553", "url": "https://glygen.org/publication/PubMed/28332553" } ] }, { "title": "Lectin-like oxidized low-density lipoprotein receptor-1 facilitates metastasis of gastric cancer through driving epithelial-mesenchymal transition and PI3K/Akt/GSK3beta activation.", "journal": "Scientific reports", "date": "2017", "authors": "Li C, Zhang J, Wu H, Li L, Yang C, Song S, Peng P, Shao M, Zhang M, Zhao J, Zhao R, Wu W, Ruan Y, Wang L, Gu J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28345638", "url": "https://glygen.org/publication/PubMed/28345638" } ] }, { "title": "DEPTOR-mTOR Signaling Is Critical for Lipid Metabolism and Inflammation Homeostasis of Lymphocytes in Human PBMC Culture.", "journal": "Journal of immunology research", "date": "2017", "authors": "Xie QB, Liang Y, Yang M, Yang Y, Cen XM, Yin G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28349073", "url": "https://glygen.org/publication/PubMed/28349073" } ] }, { "title": "Aspirin enhances the cytotoxic activity of bortezomib against myeloma cells via suppression of Bcl-2, survivin and phosphorylation of AKT.", "journal": "Oncology letters", "date": "2017", "authors": "Ding JH, Yuan LY, Chen GA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28356941", "url": "https://glygen.org/publication/PubMed/28356941" } ] }, { "title": "Evaluation of pancreatic cancer cell migration with multiple parameters in vitro by using an optical real-time cell mobility assay device.", "journal": "BMC cancer", "date": "2017-03-31", "authors": "Yamauchi Akira, Yamamura Masahiro, Katase Naoki, Itadani Masumi, Okada Naoko, Kobiki Kayoko, Nakamura Masafumi, Yamaguchi Yoshiyuki, Kuribayashi Futoshi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28359316", "url": "https://glygen.org/publication/PubMed/28359316" } ] }, { "title": "Therapeutic inhibition of miR-375 attenuates post-myocardial infarction inflammatory response and left ventricular dysfunction via PDK-1-AKT signalling axis.", "journal": "Cardiovascular research", "date": "2017", "authors": "Garikipati VNS, Verma SK, Jolardarashi D, Cheng Z, Ibetti J, Cimini M, Tang Y, Khan M, Yue Y, Benedict C, Nickoloff E, Truongcao MM, Gao E, Krishnamurthy P, Goukassian DA, Koch WJ, Kishore R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28371849", "url": "https://glygen.org/publication/PubMed/28371849" } ] }, { "title": "Wnt5a and CCL25 promote adult T-cell acute lymphoblastic leukemia cell migration, invasion and metastasis.", "journal": "Oncotarget", "date": "2017", "authors": "Deng X, Tu Z, Xiong M, Tembo K, Zhou L, Liu P, Pan S, Xiong J, Yang X, Leng J, Zhang Q, Xiao R, Zhang Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28380463", "url": "https://glygen.org/publication/PubMed/28380463" } ] }, { "title": "Integration of Receptor Tyrosine Kinases Determines Sensitivity to PI3Kalpha-selective Inhibitors in Breast Cancer.", "journal": "Theranostics", "date": "2017", "authors": "Xu YC, Wang X, Chen Y, Chen SM, Yang XY, Sun YM, Geng MY, Ding J, Meng LH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28382169", "url": "https://glygen.org/publication/PubMed/28382169" } ] }, { "title": "Kctd20 promotes the development of non-small cell lung cancer through activating Fak/AKT pathway and predicts poor overall survival of patients.", "journal": "Molecular carcinogenesis", "date": "2017", "authors": "Zhang X, Zhou H, Cai L, Fan C, Liu Y, Wang L, Li Q, Miao Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28398603", "url": "https://glygen.org/publication/PubMed/28398603" } ] }, { "title": "PDK1 inhibitor GSK2334470 exerts antitumor activity in multiple myeloma and forms a novel multitargeted combination with dual mTORC1/C2 inhibitor PP242.", "journal": "Oncotarget", "date": "2017-06-13", "authors": "Yang Chunmei, Huang Xianbo, Liu Hui, Xiao Feng, Wei Jueying, You Liangshun, Qian Wenbin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28402933", "url": "https://glygen.org/publication/PubMed/28402933" } ] }, { "title": "SIRT6 regulates Ras-related protein R-Ras2 by lysine defatty-acylation.", "journal": "eLife", "date": "2017", "authors": "Zhang X, Spiegelman NA, Nelson OD, Jing H, Lin H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28406396", "url": "https://glygen.org/publication/PubMed/28406396" } ] }, { "title": "Tumor grade related expression of neuroglobin is negatively regulated by PPARgamma and confers antioxidant activity in glioma progression.", "journal": "Redox biology", "date": "2017", "authors": "Hu J, Cao X, Pang D, Luo Q, Zou Y, Feng B, Li L, Chen Z, Huang C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28410531", "url": "https://glygen.org/publication/PubMed/28410531" } ] }, { "title": "Differential mTOR pathway profiles in bladder cancer cell line subtypes to predict sensitivity to mTOR inhibition.", "journal": "Urologic oncology", "date": "2017", "authors": "Hau AM, Nakasaki M, Nakashima K, Krish G, Hansel DE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28427860", "url": "https://glygen.org/publication/PubMed/28427860" } ] }, { "title": "MicroRNA-182 Regulates Neurite Outgrowth Involving the PTEN/AKT Pathway.", "journal": "Frontiers in cellular neuroscience", "date": "2017", "authors": "Wang WM, Lu G, Su XW, Lyu H, Poon WS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28442995", "url": "https://glygen.org/publication/PubMed/28442995" } ] }, { "title": "Glypican-1 targeted antibody-based therapy induces preclinical antitumor activity against esophageal squamous cell carcinoma.", "journal": "Oncotarget", "date": "2017-04-11", "authors": "Harada Emi, Serada Satoshi, Fujimoto Minoru, Takahashi Yusuke, Takahashi Tsuyoshi, Hara Hisashi, Nakatsuka Rie, Sugase Takahito, Nishigaki Takahiko, Saito Yurina, Hiramatsu Kosuke, Nojima Satoshi, Mitsuo Risa, Ohkawara Tomoharu, Morii Eiichi, Mori Masaki, Doki Yuichiro, Kaneda Yasufumi, Naka Tetsuji", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28445969", "url": "https://glygen.org/publication/PubMed/28445969" } ] }, { "title": "Antiplatelet Activity of a Newly Synthesized Novel Ruthenium (II): A Potential Role for Akt/JNK Signaling.", "journal": "International journal of molecular sciences", "date": "2017", "authors": "Khamrang T, Hung KC, Hsia CH, Hsieh CY, Velusamy M, Jayakumar T, Sheu JR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28448438", "url": "https://glygen.org/publication/PubMed/28448438" } ] }, { "title": "Correction of PTEN mutations in glioblastoma cell lines via AAV-mediated gene editing.", "journal": "PloS one", "date": "2017", "authors": "Hill Victoria K, Kim Jung-Sik, James C David, Waldman Todd", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28464039", "url": "https://glygen.org/publication/PubMed/28464039" } ] }, { "title": "EGFR inhibition by (-)-epigallocatechin-3-gallate and IIF treatments reduces breast cancer cell invasion.", "journal": "Bioscience reports", "date": "2017", "authors": "Farabegoli F, Govoni M, Spisni E, Papi A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28465354", "url": "https://glygen.org/publication/PubMed/28465354" } ] }, { "title": "Subcutaneous and Visceral Adipose Tissue Secretions from Extremely Obese Men and Women both Acutely Suppress Muscle Insulin Signaling.", "journal": "International journal of molecular sciences", "date": "2017", "authors": "Sarr O, Strohm RJ, MacDonald TL, Gaudio N, Reed JK, Foute-Nelong J, Dyck DJ, Mutch DM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28468326", "url": "https://glygen.org/publication/PubMed/28468326" } ] }, { "title": "AF1q Mediates Tumor Progression in Colorectal Cancer by Regulating AKT Signaling.", "journal": "International journal of molecular sciences", "date": "2017", "authors": "Hu J, Li G, Liu L, Wang Y, Li X, Gong J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28475127", "url": "https://glygen.org/publication/PubMed/28475127" } ] }, { "title": "Role of Akt-independent mTORC1 and GSK3beta signaling in sublethal NMDA-induced injury and the recovery of neuronal electrophysiology and survival.", "journal": "Scientific reports", "date": "2017", "authors": "Swiatkowski P, Nikolaeva I, Kumar G, Zucco A, Akum BF, Patel MV, D'Arcangelo G, Firestein BL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28484273", "url": "https://glygen.org/publication/PubMed/28484273" } ] }, { "title": "MicroRNA-23b functions as an oncogene and activates AKT/GSK3beta/beta-catenin signaling by targeting ST7L in hepatocellular carcinoma.", "journal": "Cell death & disease", "date": "2017", "authors": "Zhuang L, Wang X, Wang Z, Ma X, Han B, Zou H, Wu Z, Dong S, Qu Z, Zang Y, Wu L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28518144", "url": "https://glygen.org/publication/PubMed/28518144" } ] }, { "title": "The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS).", "journal": "Oncotarget", "date": "2017", "authors": "Suzuki Y, Enokido Y, Yamada K, Inaba M, Kuwata K, Hanada N, Morishita T, Mizuno S, Wakamatsu N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28525374", "url": "https://glygen.org/publication/PubMed/28525374" } ] }, { "title": "[Effects of overexpression of miR-17-92 gene cluster on the biological characteristics of prostate cancer cells and its mechanism].", "journal": "Zhonghua zhong liu za zhi [Chinese journal of oncology]", "date": "2017", "authors": "Zhou P, Ma L, Zhou J, Xu JJ, Liu F, Guo F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28535647", "url": "https://glygen.org/publication/PubMed/28535647" } ] }, { "title": "Waldenstrom macroglobulinemia cells devoid of BTK(C481S) or CXCR4(WHIM-like) mutations acquire resistance to ibrutinib through upregulation of Bcl-2 and AKT resulting in vulnerability towards venetoclax or MK2206 treatment.", "journal": "Blood cancer journal", "date": "2017", "authors": "Paulus A, Akhtar S, Yousaf H, Manna A, Paulus SM, Bashir Y, Caulfield TR, Kuranz-Blake M, Chitta K, Wang X, Asmann Y, Hudec R, Springer W, Ailawadhi S, Chanan-Khan A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28548645", "url": "https://glygen.org/publication/PubMed/28548645" } ] }, { "title": "IL-17A promotes the proliferation of human nasopharyngeal carcinoma cells through p300-mediated Akt1 acetylation.", "journal": "Oncology letters", "date": "2017", "authors": "Cai K, Wang B, Dou H, Luan R, Bao X, Chu J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28588706", "url": "https://glygen.org/publication/PubMed/28588706" } ] }, { "title": "AMP-activated protein kinase regulates lipid metabolism and the fibrotic phenotype of hepatic stellate cells through inhibition of autophagy.", "journal": "FEBS open bio", "date": "2017", "authors": "Chen M, Liu J, Yang L, Ling W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28593136", "url": "https://glygen.org/publication/PubMed/28593136" } ] }, { "title": "MEK inhibitors induce Akt activation and drug resistance by suppressing negative feedback ERK-mediated HER2 phosphorylation at Thr701.", "journal": "Molecular oncology", "date": "2017", "authors": "Chen CH, Hsia TC, Yeh MH, Chen TW, Chen YJ, Chen JT, Wei YL, Tu CY, Huang WC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28632938", "url": "https://glygen.org/publication/PubMed/28632938" } ] }, { "title": "Akt activation by Ca2+/calmodulin-dependent protein kinase kinase 2 (CaMKK2) in ovarian cancer cells.", "journal": "The Journal of biological chemistry", "date": "2017-08-25", "authors": "Gocher Angela M, Azabdaftari Gissou, Euscher Lindsey M, Dai Shuhang, Karacosta Loukia G, Franke Thomas F, Edelman Arthur M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28634229", "url": "https://glygen.org/publication/PubMed/28634229" } ] }, { "title": "Palmitic Acid-BSA enhances Amyloid-beta production through GPR40-mediated dual pathways in neuronal cells: Involvement of the Akt/mTOR/HIF-1alpha and Akt/NF-kappaB pathways.", "journal": "Scientific reports", "date": "2017", "authors": "Kim JY, Lee HJ, Lee SJ, Jung YH, Yoo DY, Hwang IK, Seong JK, Ryu JM, Han HJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28659580", "url": "https://glygen.org/publication/PubMed/28659580" } ] }, { "title": "LIM kinase 1 interacts with myosin-9 and alpha-actinin-4 and promotes colorectal cancer progression.", "journal": "British journal of cancer", "date": "2017-08-08", "authors": "Liao Qing, Li Rui, Zhou Rui, Pan Zhihua, Xu Lijun, Ding Yanqing, Zhao Liang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28664914", "url": "https://glygen.org/publication/PubMed/28664914" } ] }, { "title": "Abnormality of Klotho Signaling Is Involved in Polycystic Ovary Syndrome.", "journal": "Reproductive sciences (Thousand Oaks, Calif.)", "date": "2018", "authors": "Mao Z, Fan L, Yu Q, Luo S, Wu X, Tang J, Kang G, Tang L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28673204", "url": "https://glygen.org/publication/PubMed/28673204" } ] }, { "title": "PRAS40 Connects Microenvironmental Stress Signaling to Exosome-Mediated Secretion.", "journal": "Molecular and cellular biology", "date": "2017", "authors": "Guo J, Jayaprakash P, Dan J, Wise P, Jang GB, Liang C, Chen M, Woodley DT, Fabbri M, Li W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28674187", "url": "https://glygen.org/publication/PubMed/28674187" } ] }, { "title": "Crizotinib in Combination with Everolimus Synergistically Inhibits Proliferation of Anaplastic Lymphoma KinasePositive Anaplastic Large Cell Lymphoma.", "journal": "Cancer research and treatment", "date": "2018", "authors": "Xu W, Kim JW, Jung WJ, Koh Y, Yoon SS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28675026", "url": "https://glygen.org/publication/PubMed/28675026" } ] }, { "title": "Peptides derived from the knuckle epitope of BMP-9 induce the cholinergic differentiation and inactivate GSk3beta in human SH-SY5Y neuroblastoma cells.", "journal": "Scientific reports", "date": "2017", "authors": "Lauzon MA, Drevelle O, Faucheux N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28680159", "url": "https://glygen.org/publication/PubMed/28680159" } ] }, { "title": "Cooperation between p21 and Akt is required for p53-dependent cellular senescence.", "journal": "Aging cell", "date": "2017", "authors": "Kim YY, Jee HJ, Um JH, Kim YM, Bae SS, Yun J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28691365", "url": "https://glygen.org/publication/PubMed/28691365" } ] }, { "title": "PDK1 plays a vital role on hematopoietic stem cell function.", "journal": "Scientific reports", "date": "2017", "authors": "Hu T, Li C, Wang L, Zhang Y, Peng L, Cheng H, Chu Y, Wang W, Ema H, Gao Y, Ju Z, Yang Z, Wang X, Cheng T, Yuan W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28694518", "url": "https://glygen.org/publication/PubMed/28694518" } ] }, { "title": "Phospholipase Cgamma1 Mediates Intima Formation Through Akt-Notch1 Signaling Independent of the Phospholipase Activity.", "journal": "Journal of the American Heart Association", "date": "2017", "authors": "Jiang D, Zhuang J, Peng W, Lu Y, Liu H, Zhao Q, Chi C, Li X, Zhu G, Xu X, Yan C, Xu Y, Ge J, Pang J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28698260", "url": "https://glygen.org/publication/PubMed/28698260" } ] }, { "title": "Rictor regulates the vasculogenic mimicry of melanoma via the AKT-MMP-2/9 pathway.", "journal": "Journal of cellular and molecular medicine", "date": "2017-12", "authors": "Liang Xingmei, Sun Ran, Zhao Xiulan, Zhang Yanhui, Gu Qiang, Dong Xueyi, Zhang Danfang, Sun Junying, Sun Baocun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28699701", "url": "https://glygen.org/publication/PubMed/28699701" } ] }, { "title": "Conditional cell reprogramming involves non-canonical \u03b2-catenin activation and mTOR-mediated inactivation of Akt.", "journal": "PloS one", "date": "2017", "authors": "Suprynowicz Frank A, Kamonjoh Christopher M, Krawczyk Ewa, Agarwal Seema, Wellstein Anton, Agboke Fadeke A, Choudhury Sujata, Liu Xuefeng, Schlegel Richard", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28700668", "url": "https://glygen.org/publication/PubMed/28700668" } ] }, { "title": "Asxl1 deficiency in embryonic fibroblasts leads to cellular senescence via impairment of the AKT-E2F pathway and Ezh2 inactivation.", "journal": "Scientific reports", "date": "2017", "authors": "Youn HS, Kim TY, Park UH, Moon ST, An SJ, Lee YK, Hwang JT, Kim EJ, Um SJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28701722", "url": "https://glygen.org/publication/PubMed/28701722" } ] }, { "title": "Avian reovirus p17 and \u03c3A act cooperatively to downregulate Akt by suppressing mTORC2 and CDK2/cyclin A2 and upregulating proteasome PSMB6.", "journal": "Scientific reports", "date": "2017-07-12", "authors": "Huang Wei-Ru, Chi Pei-I, Chiu Hung-Chuan, Hsu Jue-Liang, Nielsen Brent L, Liao Tsai-Ling, Liu Hung-Jen", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28701787", "url": "https://glygen.org/publication/PubMed/28701787" } ] }, { "title": "The low expression of miR-451 predicts a worse prognosis in non-small cell lung cancer cases.", "journal": "PloS one", "date": "2017", "authors": "Goto Akiteru, Tanaka Masamitsu, Yoshida Makoto, Umakoshi Michinobu, Nanjo Hiroshi, Shiraishi Kouya, Saito Motonobu, Kohno Takashi, Kuriyama Sei, Konno Hayato, Imai Kazuhiro, Saito Hajime, Minamiya Yoshihiro, Maeda Daichi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28704499", "url": "https://glygen.org/publication/PubMed/28704499" } ] }, { "title": "PTEN/FOXO3/AKT pathway regulates cell death and mediates morphogenetic differentiation of Colorectal Cancer Cells under Simulated Microgravity.", "journal": "Scientific reports", "date": "2017", "authors": "Arun RP, Sivanesan D, Vidyasekar P, Verma RS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28729699", "url": "https://glygen.org/publication/PubMed/28729699" } ] }, { "title": "miR-125a-3p/FUT5-FUT6 axis mediates colorectal cancer cell proliferation, migration, invasion and pathological angiogenesis via PI3K-Akt pathway.", "journal": "Cell death & disease", "date": "2017", "authors": "Liang L, Gao C, Li Y, Sun M, Xu J, Li H, Jia L, Zhao Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28771224", "url": "https://glygen.org/publication/PubMed/28771224" } ] }, { "title": "Amyloid \u03b21-42 (A\u03b21-42) Induces the CDK2-Mediated Phosphorylation of Tau through the Activation of the mTORC1 Signaling Pathway While Promoting Neuronal Cell Death.", "journal": "Frontiers in molecular neuroscience", "date": "2017", "authors": "Lee Ki Hoon, Lee Sei-Jung, Lee Hyun Jik, Choi Gee Euhn, Jung Young Hyun, Kim Dah Ihm, Gabr Amr Ahmed, Ryu Jung Min, Han Ho Jae", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28790888", "url": "https://glygen.org/publication/PubMed/28790888" } ] }, { "title": "Suppression of GRK2 expression reduces endothelial dysfunction by restoring glucose homeostasis.", "journal": "Scientific reports", "date": "2017-08-16", "authors": "Taguchi Kumiko, Hida Mari, Hasegawa Mami, Narimatsu Haruka, Matsumoto Takayuki, Kobayashi Tsuneo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28814745", "url": "https://glygen.org/publication/PubMed/28814745" } ] }, { "title": "Reptin regulates insulin-stimulated Akt phosphorylation in hepatocellular carcinoma via the regulation of SHP-1/PTPN6.", "journal": "Cell biochemistry and function", "date": "2017", "authors": "Raymond AA, Javary J, Breig O, Neaud V, Rosenbaum J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28833338", "url": "https://glygen.org/publication/PubMed/28833338" } ] }, { "title": "Enhanced efficacy of AKT and FAK kinase combined inhibition in squamous cell lung carcinomas with stable reduction in PTEN.", "journal": "Oncotarget", "date": "2017", "authors": "Cavazzoni A, La Monica S, Alfieri R, Ravelli A, Van Der Steen N, Sciarrillo R, Madeddu D, Lagrasta CAM, Quaini F, Bonelli M, Fumarola C, Cretella D, Digiacomo G, Tiseo M, Peters GJ, Ardizzoni A, Petronini PG, Giovannetti E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28881794", "url": "https://glygen.org/publication/PubMed/28881794" } ] }, { "title": "Casein kinase 2 is a critical determinant of the balance of Th17 and Treg cell differentiation.", "journal": "Experimental & molecular medicine", "date": "2017", "authors": "Jang SW, Hwang SS, Kim HS, Lee KO, Kim MK, Lee W, Kim K, Lee GR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28883547", "url": "https://glygen.org/publication/PubMed/28883547" } ] }, { "title": "Receptor and post-receptor abnormalities contribute to insulin resistance in myotonic dystrophy type 1 and type 2 skeletal muscle.", "journal": "PloS one", "date": "2017", "authors": "Renna Laura Valentina, Bos\u00e8 Francesca, Iachettini Sara, Fossati Barbara, Saraceno Lorenzo, Milani Valentina, Colombo Roberto, Meola Giovanni, Cardani Rosanna", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28915272", "url": "https://glygen.org/publication/PubMed/28915272" } ] }, { "title": "Baicalein inhibits pancreatic cancer cell proliferation and invasion via suppression of NEDD9 expression and its downstream Akt and ERK signaling pathways.", "journal": "Oncotarget", "date": "2017", "authors": "Zhou RT, He M, Yu Z, Liang Y, Nie Y, Tai S, Teng CB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28915595", "url": "https://glygen.org/publication/PubMed/28915595" } ] }, { "title": "Identification of 4-phenylquinolin-2(1H)-one as a specific allosteric inhibitor of Akt.", "journal": "Scientific reports", "date": "2017-09-15", "authors": "Huang Bill X, Newcomer Kenny, Kevala Karl, Barnaeva Elena, Zheng Wei, Hu Xin, Patnaik Samarjit, Southall Noel, Marugan Juan, Ferrer Marc, Kim Hee-Yong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28916818", "url": "https://glygen.org/publication/PubMed/28916818" } ] }, { "title": "SNP rs3202538 in 3'UTR region of ErbB3 regulated by miR-204 and miR-211 promote gastric cancer development in Chinese population.", "journal": "Cancer cell international", "date": "2017", "authors": "Shi Yaxiang, Chen Xuan, Xi Biao, Yu Xiaowen, Ouyang Jun, Han Chunxia, Qin Yucheng, Wu Defeng, Shen Hong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28924391", "url": "https://glygen.org/publication/PubMed/28924391" } ] }, { "title": "IRS-1 pY612 and Akt-1/PKB pT308 Phosphorylation and Antiinflammatory Effect of Diindolylmethane in Adipocytes Cocultured with Macrophages.", "journal": "Medicinal chemistry (Shariqah (United Arab Emirates))", "date": "2017", "authors": "Lopez-Vazquez A, Garcia-Banuelos JJ, Gonzalez-Garibay AS, Urzua-Lozano PE, Del Toro-Arreola S, Bueno-Topete MR, Sanchez-Enriquez S, Munoz-Valle JF, Jave-Suarez LF, Armendariz-Borunda J, Bastidas-Ramirez BE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28934926", "url": "https://glygen.org/publication/PubMed/28934926" } ] }, { "title": "The dual PI3K/mTOR inhibitor GSK2126458 is effective for treating solid renal tumours in Tsc2(+/-) mice through suppression of cell proliferation and induction of apoptosis.", "journal": "Oncotarget", "date": "2017", "authors": "Narov K, Yang J, Samsel P, Jones A, Sampson JR, Shen MH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28938574", "url": "https://glygen.org/publication/PubMed/28938574" } ] }, { "title": "Novel ATP-competitive Akt inhibitor afuresertib suppresses the proliferation of malignant pleural mesothelioma cells.", "journal": "Cancer medicine", "date": "2017", "authors": "Yamaji M, Ota A, Wahiduzzaman M, Karnan S, Hyodo T, Konishi H, Tsuzuki S, Hosokawa Y, Haniuda M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28960945", "url": "https://glygen.org/publication/PubMed/28960945" } ] }, { "title": "Cytotoxic effects exerted by pentachlorophenol by targeting nodal pro-survival signaling pathways in human pancreatic cancer cells.", "journal": "Toxicology reports", "date": "2014", "authors": "Schaefer S, Kreutzer JN, Issinger OG, Guerra B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28962326", "url": "https://glygen.org/publication/PubMed/28962326" } ] }, { "title": "ABI3, a component of the WAVE2 complex, is potentially regulated by PI3K/AKT pathway.", "journal": "Oncotarget", "date": "2017-09-15", "authors": "Moraes Lais, Zanchin Nilson I T, Cerutti Janete M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28978070", "url": "https://glygen.org/publication/PubMed/28978070" } ] }, { "title": "The interplay of CD150 and CD180 receptor pathways contribute to the pathobiology of chronic lymphocytic leukemia B cells by selective inhibition of Akt and MAPK signaling.", "journal": "PloS one", "date": "2017", "authors": "Gordiienko I, Shlapatska L, Kholodniuk V, Sklyarenko L, Gluzman DF, Clark EA, Sidorenko SP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28982149", "url": "https://glygen.org/publication/PubMed/28982149" } ] }, { "title": "Modulation of PI3K/PTEN Pathway Does Not Affect Catalytic Activity of PDK1 in Jurkat Cells.", "journal": "Anticancer research", "date": "2017-10", "authors": "Yang Keum-Jin, Piao Longzhen, Shin Sanghee, Shin So-Yeon, Li Yuwen, Lee Hyunji, Tran Quangdon, Park Jisoo, Hong Suntaek, Brazil Derek P, Hemmings Brian A, Kim Seon-Hwan, Park Jongsun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28982851", "url": "https://glygen.org/publication/PubMed/28982851" } ] }, { "title": "Impairment of Akt activity by CYP2E1 mediated oxidative stress is involved in chronic ethanol-induced fatty liver.", "journal": "Redox biology", "date": "2018", "authors": "Zeng T, Zhang CL, Zhao N, Guan MJ, Xiao M, Yang R, Zhao XL, Yu LH, Zhu ZP, Xie KQ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28987868", "url": "https://glygen.org/publication/PubMed/28987868" } ] }, { "title": "Vertical inhibition of the PI3K/Akt/mTOR pathway is synergistic in breast cancer.", "journal": "Oncogenesis", "date": "2017", "authors": "Woo SU, Sangai T, Akcakanat A, Chen H, Wei C, Meric-Bernstam F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28991258", "url": "https://glygen.org/publication/PubMed/28991258" } ] }, { "title": "Identification of a RAC/AKT-like gene in Leishmania parasites as a putative therapeutic target in leishmaniasis.", "journal": "Parasites & vectors", "date": "2017", "authors": "Varela-M RE, Ochoa R, Muskus CE, Muro A, Mollinedo F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29017516", "url": "https://glygen.org/publication/PubMed/29017516" } ] }, { "title": "Omentin-1 effects on mesenchymal stem cells: proliferation, apoptosis, and angiogenesis in vitro.", "journal": "Stem cell research & therapy", "date": "2017", "authors": "Yin L, Huang D, Liu X, Wang Y, Liu J, Liu F, Yu B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29017592", "url": "https://glygen.org/publication/PubMed/29017592" } ] }, { "title": "Betulinic acid induces apoptosis by regulating PI3K/Akt signaling and mitochondrial pathways in human cervical cancer cells.", "journal": "International journal of molecular medicine", "date": "2017", "authors": "Xu T, Pang Q, Wang Y, Yan X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29039440", "url": "https://glygen.org/publication/PubMed/29039440" } ] }, { "title": "ESE-1/ELF3 mRNA expression associates with poor survival outcomes in HER2+ breast cancer patients and is critical for tumorigenesis in HER2+ breast cancer cells.", "journal": "Oncotarget", "date": "2017-09-19", "authors": "Kar Adwitiya, Gutierrez-Hartmann Arthur", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29050229", "url": "https://glygen.org/publication/PubMed/29050229" } ] }, { "title": "Increased intracellular Ca(2+) concentrations prevent membrane localization of PH domains through the formation of Ca(2+)-phosphoinositides.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2017", "authors": "Kang JK, Kim OH, Hur J, Yu SH, Lamichhane S, Lee JW, Ojha U, Hong JH, Lee CS, Cha JY, Lee YJ, Im SS, Park YJ, Choi CS, Lee DH, Lee IK, Oh BC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29078297", "url": "https://glygen.org/publication/PubMed/29078297" } ] }, { "title": "FKBP51 decreases cell proliferation and increases progestin sensitivity of human endometrial adenocarcinomas by inhibiting Akt.", "journal": "Oncotarget", "date": "2017", "authors": "Dong J, Jiao Y, Mu W, Lu B, Wei M, Sun L, Hu S, Cui B, Liu X, Chen Z, Zhao Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29113312", "url": "https://glygen.org/publication/PubMed/29113312" } ] }, { "title": "\u03c9-3 polyunsaturated fatty acids direct differentiation of the membrane phenotype in mesenchymal stem cells to potentiate osteogenesis.", "journal": "Science advances", "date": "2017-11", "authors": "Levental Kandice R, Surma Michal A, Skinkle Allison D, Lorent Joseph H, Zhou Yong, Klose Christian, Chang Jeffrey T, Hancock John F, Levental Ilya", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29134198", "url": "https://glygen.org/publication/PubMed/29134198" } ] }, { "title": "Curcumin Induces Apoptosis in EJ Bladder Cancer Cells via Modulating C-Myc and PI3K/Akt Signaling Pathway.", "journal": "World journal of oncology", "date": "2011", "authors": "Wang J, Wang Z, Wang H, Zhao J, Zhang Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29147235", "url": "https://glygen.org/publication/PubMed/29147235" } ] }, { "title": "Mechanism of activation of SGK3 by growth factors via the Class 1 and Class 3 PI3Ks.", "journal": "The Biochemical journal", "date": "2018", "authors": "Malik N, Macartney T, Hornberger A, Anderson KE, Tovell H, Prescott AR, Alessi DR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29150437", "url": "https://glygen.org/publication/PubMed/29150437" } ] }, { "title": "Uncoupling TORC2 from AGC kinases inhibits tumour growth.", "journal": "Oncotarget", "date": "2017-10-17", "authors": "Cameron Angus J M, Veeriah Selvaraju, Marshall Jacqueline J T, Murray Elizabeth R, Larijani Banafsh\u00e9, Parker Peter J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29156676", "url": "https://glygen.org/publication/PubMed/29156676" } ] }, { "title": "A preclinical evaluation of the MEK inhibitor refametinib in HER2-positive breast cancer cell lines including those with acquired resistance to trastuzumab or lapatinib.", "journal": "Oncotarget", "date": "2017-10-17", "authors": "O'Shea John, Cremona Mattia, Morgan Clare, Milewska Malgorzata, Holmes Frankie, Espina Virginia, Liotta Lance, O'Shaughnessy Joyce, Toomey Sinead, Madden Stephen F, Carr Aoife, Elster Naomi, Hennessy Bryan T, Eustace Alex J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29156708", "url": "https://glygen.org/publication/PubMed/29156708" } ] }, { "title": "Liraglutide restores chronic ER stress, autophagy impairments and apoptotic signalling in SH-SY5Y cells.", "journal": "Scientific reports", "date": "2017", "authors": "Panagaki T, Michael M, Holscher C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29170452", "url": "https://glygen.org/publication/PubMed/29170452" } ] }, { "title": "Effect of Targeted Therapy With Pazopanib on Expression Levels of Transcription, Growth Factors and Components of AKT/m-TOR Signaling Pathway in Patients with Renal Cell Carcinoma", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2017", "authors": "Spirina LV, Usynin EA, Yurmazov ZA, Slonimskaya EM, Kondakova IV", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29172268", "url": "https://glygen.org/publication/PubMed/29172268" } ] }, { "title": "Alpha-Tocopherol prevents esophageal squamous cell carcinoma by modulating PPAR\u03b3-Akt signaling pathway at the early stage of carcinogenesis.", "journal": "Oncotarget", "date": "2017-11-10", "authors": "Xu Miao, Yang Hui, Zhang Qiannan, Lu Ping, Feng Yongquan, Geng Xue, Zhang Lishi, Jia Xudong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29221176", "url": "https://glygen.org/publication/PubMed/29221176" } ] }, { "title": "NDRG4 promotes myogenesis via Akt/CREB activation.", "journal": "Oncotarget", "date": "2017", "authors": "Zhu M, Zheng R, Guo Y, Zhang Y, Zuo B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29254199", "url": "https://glygen.org/publication/PubMed/29254199" } ] }, { "title": "VS-5584 mediates potent anti-myeloma activity via the upregulation of a class II tumor suppressor gene, RARRES3 and the activation of Bim.", "journal": "Oncotarget", "date": "2017", "authors": "Mustafa N, Ting Lee JX, Adina Nee HF, Bi C, Chung TH, Hart S, Chng WJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29254208", "url": "https://glygen.org/publication/PubMed/29254208" } ] }, { "title": "Histone methyltransferase KMT2D sustains prostate carcinogenesis and metastasis via epigenetically activating LIFR and KLF4.", "journal": "Oncogene", "date": "2018", "authors": "Lv S, Ji L, Chen B, Liu S, Lei C, Liu X, Qi X, Wang Y, Lai-Han Leung E, Wang H, Zhang L, Yu X, Liu Z, Wei Q, Lu L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29269867", "url": "https://glygen.org/publication/PubMed/29269867" } ] }, { "title": "CXCL8 derived from tumor-associated macrophages and esophageal squamous cell carcinomas contributes to tumor progression by promoting migration and invasion of cancer cells.", "journal": "Oncotarget", "date": "2017", "authors": "Hosono M, Koma YI, Takase N, Urakawa N, Higashino N, Suemune K, Kodaira H, Nishio M, Shigeoka M, Kakeji Y, Yokozaki H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29285315", "url": "https://glygen.org/publication/PubMed/29285315" } ] }, { "title": "Differential roles of ERRFI1 in EGFR and AKT pathway regulation affect cancer proliferation.", "journal": "EMBO reports", "date": "2018", "authors": "Cairns J, Fridley BL, Jenkins GD, Zhuang Y, Yu J, Wang L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29335246", "url": "https://glygen.org/publication/PubMed/29335246" } ] }, { "title": "Electrical pulse stimulation induces GLUT4 translocation in a Rac-Akt-dependent manner in C2C12 myotubes.", "journal": "FEBS letters", "date": "2018", "authors": "Hu F, Li N, Li Z, Zhang C, Yue Y, Liu Q, Chen L, Bilan PJ, Niu W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29355935", "url": "https://glygen.org/publication/PubMed/29355935" } ] }, { "title": "Parallel PI3K, AKT and mTOR inhibition is required to control feedback loops that limit tumor therapy.", "journal": "PloS one", "date": "2018", "authors": "Sathe A, Chalaud G, Oppolzer I, Wong KY, von Busch M, Schmid SC, Tong Z, Retz M, Gschwend JE, Schulz WA, Nawroth R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29357370", "url": "https://glygen.org/publication/PubMed/29357370" } ] }, { "title": "Glycans modify mesenchymal stem cell differentiation to impact on the function of resulting osteoblasts.", "journal": "Journal of cell science", "date": "2018", "authors": "Wilson KM, Jagger AM, Walker M, Seinkmane E, Fox JM, Kroger R, Genever P, Ungar D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29361539", "url": "https://glygen.org/publication/PubMed/29361539" } ] }, { "title": "Ormeloxifene-induced unfolded protein response contributes to autophagy-associated apoptosis via disruption of Akt/mTOR and activation of JNK.", "journal": "Scientific reports", "date": "2018-02-02", "authors": "Bhattacharjee Arindam, Hasanain Mohammad, Kathuria Manoj, Singh Akhilesh, Datta Dipak, Sarkar Jayanta, Mitra Kalyan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29396506", "url": "https://glygen.org/publication/PubMed/29396506" } ] }, { "title": "Clinical outcomes and differential effects of PI3K pathway mutation in obese versus non-obese patients with cervical cancer.", "journal": "Oncotarget", "date": "2018", "authors": "Grigsby P, Elhammali A, Ruiz F, Markovina S, McLellan MD, Miller CA, Chundury A, Ta NL, Rashmi R, Pfeifer JD, Fulton RS, DeWees T, Schwarz JK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29423104", "url": "https://glygen.org/publication/PubMed/29423104" } ] }, { "title": "Protein translation, proteolysis and autophagy in human skeletal muscle atrophy after spinal cord injury.", "journal": "Acta physiologica (Oxford, England)", "date": "2018", "authors": "Lundell LS, Savikj M, Kostovski E, Iversen PO, Zierath JR, Krook A, Chibalin AV, Widegren U", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29423932", "url": "https://glygen.org/publication/PubMed/29423932" } ] }, { "title": "Preclinical evaluation and reverse phase protein Array-based profiling of PI3K and MEK inhibitors in endometrial carcinoma in vitro.", "journal": "BMC cancer", "date": "2018", "authors": "Aslan O, Cremona M, Morgan C, Cheung LW, Mills GB, Hennessy BT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29426295", "url": "https://glygen.org/publication/PubMed/29426295" } ] }, { "title": "Association of cytosolic sialidase Neu2 with plasma membrane enhances Fas-mediated apoptosis by impairing PI3K-Akt/mTOR-mediated pathway in pancreatic cancer cells.", "journal": "Cell death & disease", "date": "2018", "authors": "Nath S, Mandal C, Chatterjee U, Mandal C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29434218", "url": "https://glygen.org/publication/PubMed/29434218" } ] }, { "title": "Autophagy activation promotes bevacizumab resistance in glioblastoma by suppressing Akt/mTOR signaling pathway.", "journal": "Oncology letters", "date": "2018", "authors": "Huang H, Song J, Liu Z, Pan L, Xu G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29434840", "url": "https://glygen.org/publication/PubMed/29434840" } ] }, { "title": "Overexpression of Na(+)/Mg(2+) exchanger SLC41A1 attenuates pro-survival signaling.", "journal": "Oncotarget", "date": "2018", "authors": "Sponder G, Abdulhanan N, Frohlich N, Mastrototaro L, Aschenbach JR, Rontgen M, Pilchova I, Cibulka M, Racay P, Kolisek M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29435164", "url": "https://glygen.org/publication/PubMed/29435164" } ] }, { "title": "Listeriolysin O Causes ENaC Dysfunction in Human Airway Epithelial Cells.", "journal": "Toxins", "date": "2018", "authors": "Yang G, Pillich H, White R, Czikora I, Pochic I, Yue Q, Hudel M, Gorshkov B, Verin A, Sridhar S, Isales CM, Eaton DC, Hamacher J, Chakraborty T, Lucas R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29439494", "url": "https://glygen.org/publication/PubMed/29439494" } ] }, { "title": "Akt Protein Kinase, miR-200/miR-182 Expression and Epithelial-Mesenchymal Transition Proteins in Hibernating Ground Squirrels.", "journal": "Frontiers in molecular neuroscience", "date": "2018", "authors": "Lee Yang-Ja, Bernstock Joshua D, Klimanis Dace, Hallenbeck John M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29440989", "url": "https://glygen.org/publication/PubMed/29440989" } ] }, { "title": "A-674563, a putative AKT1 inhibitor that also suppresses CDK2 activity, inhibits human NSCLC cell growth more effectively than the pan-AKT inhibitor, MK-2206.", "journal": "PloS one", "date": "2018", "authors": "Chorner PM, Moorehead RA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29470540", "url": "https://glygen.org/publication/PubMed/29470540" } ] }, { "title": "Phosphorylation of AKT and ERK1/2 and mutations of PIK3CA and PTEN are predictive of breast cancer cell sensitivity to everolimus in vitro.", "journal": "Cancer chemotherapy and pharmacology", "date": "2018-04", "authors": "Citi Valentina, Del Re Marzia, Martelli Alma, Calderone Vincenzo, Breschi Maria Cristina, Danesi Romano", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29476223", "url": "https://glygen.org/publication/PubMed/29476223" } ] }, { "title": "Effects of platelet-rich plasma on the activity of human menstrual blood-derived stromal cells in vitro.", "journal": "Stem cell research & therapy", "date": "2018", "authors": "Zhang S, Li P, Yuan Z, Tan J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29482651", "url": "https://glygen.org/publication/PubMed/29482651" } ] }, { "title": "Dual targeting of mitochondrial function and mTOR pathway as a therapeutic strategy for diffuse intrinsic pontine glioma.", "journal": "Oncotarget", "date": "2018", "authors": "Tsoli M, Liu J, Franshaw L, Shen H, Cheng C, Jung M, Joshi S, Ehteda A, Khan A, Montero-Carcabosso A, Dilda PJ, Hogg P, Ziegler DS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29484131", "url": "https://glygen.org/publication/PubMed/29484131" } ] }, { "title": "Estrogen receptor alpha drives mTORC1 inhibitor-induced feedback activation of PI3K/AKT in ER+ breast cancer.", "journal": "Oncotarget", "date": "2018", "authors": "Yang W, Schwartz GN, Marotti JD, Chen V, Traphagen NA, Gui J, Miller TW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29507656", "url": "https://glygen.org/publication/PubMed/29507656" } ] }, { "title": "FLT3-ITD induces expression of Pim kinases through STAT5 to confer resistance to the PI3K/Akt pathway inhibitors on leukemic cells by enhancing the mTORC1/Mcl-1 pathway.", "journal": "Oncotarget", "date": "2018", "authors": "Okada K, Nogami A, Ishida S, Akiyama H, Chen C, Umezawa Y, Miura O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29507660", "url": "https://glygen.org/publication/PubMed/29507660" } ] }, { "title": "GABAB receptor regulates proliferation in the high-grade chondrosarcoma cell line OUMS-27 via apoptotic pathways.", "journal": "BMC cancer", "date": "2018", "authors": "Kanbara K, Otsuki Y, Watanabe M, Yokoe S, Mori Y, Asahi M, Neo M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29514603", "url": "https://glygen.org/publication/PubMed/29514603" } ] }, { "title": "Dual inhibition of AKT-mTOR and AR signaling by targeting HDAC3 in PTEN- or SPOP-mutated prostate cancer.", "journal": "EMBO molecular medicine", "date": "2018", "authors": "Yan Y, An J, Yang Y, Wu D, Bai Y, Cao W, Ma L, Chen J, Yu Z, He Y, Jin X, Pan Y, Ma T, Wang S, Hou X, Weroha SJ, Karnes RJ, Zhang J, Westendorf JJ, Wang L, Chen Y, Xu W, Zhu R, Wang D, Huang H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29523594", "url": "https://glygen.org/publication/PubMed/29523594" } ] }, { "title": "NVP-BEZ235 synergizes cisplatin sensitivity in osteosarcoma.", "journal": "Oncotarget", "date": "2018", "authors": "Huang JC, Cui ZF, Chen SM, Yang LJ, Lian HK, Liu B, Su ZH, Liu JS, Wang M, Hu ZB, Ouyang JY, Li QC, Lu H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29535821", "url": "https://glygen.org/publication/PubMed/29535821" } ] }, { "title": "In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).", "journal": "Neurogenetics", "date": "2018", "authors": "Ranieri C, Di Tommaso S, Loconte DC, Grossi V, Sanese P, Bagnulo R, Susca FC, Forte G, Peserico A, De Luisi A, Bartuli A, Selicorni A, Melis D, Lerone M, Pratico AD, Abbadessa G, Yu Y, Schwartz B, Ruggieri M, Simone C, Resta N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29549527", "url": "https://glygen.org/publication/PubMed/29549527" } ] }, { "title": "EGCG inhibited bladder cancer T24 and 5637 cell proliferation and migration via PI3K/AKT pathway.", "journal": "Oncotarget", "date": "2018", "authors": "Luo KW, Lung WY, Chun-Xie, Luo XL, Huang WR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29552308", "url": "https://glygen.org/publication/PubMed/29552308" } ] }, { "title": "SC79 protects dopaminergic neurons from oxidative stress.", "journal": "Oncotarget", "date": "2018", "authors": "Xu Y, Gao YW, Yang Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29560097", "url": "https://glygen.org/publication/PubMed/29560097" } ] }, { "title": "GSK-3beta-mediated regulation of cadmium-induced cell death and survival.", "journal": "Cellular & molecular biology letters", "date": "2018", "authors": "Kim S, Cheon H, Kim SM, Kim YY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29563926", "url": "https://glygen.org/publication/PubMed/29563926" } ] }, { "title": "Synergistic effects of inhibiting the MNK-eIF4E and PI3K/AKT/ mTOR pathways on cell migration in MDA-MB-231 cells.", "journal": "Oncotarget", "date": "2018", "authors": "Lineham E, Tizzard GJ, Coles SJ, Spencer J, Morley SJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29581834", "url": "https://glygen.org/publication/PubMed/29581834" } ] }, { "title": "Conformational sampling of membranes by Akt controls its activation and inactivation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Lucic I, Rathinaswamy MK, Truebestein L, Hamelin DJ, Burke JE, Leonard TA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29632185", "url": "https://glygen.org/publication/PubMed/29632185" } ] }, { "title": "Counteracting Akt Activation by HIV Protease Inhibitors in Monocytes/Macrophages.", "journal": "Viruses", "date": "2018-04-13", "authors": "Pasquereau S\u00e9bastien, Kumar Amit, Abbas Wasim, Herbein Georges", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29652795", "url": "https://glygen.org/publication/PubMed/29652795" } ] }, { "title": "Qianlie Xiaozheng Decoction Induces Autophagy in Human Prostate Cancer Cells via Inhibition of the Akt/mTOR Pathway.", "journal": "Frontiers in pharmacology", "date": "2018", "authors": "Xu Y, Cai X, Zong B, Feng R, Ji Y, Chen G, Li Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29670523", "url": "https://glygen.org/publication/PubMed/29670523" } ] }, { "title": "Acute Hyperthermia Inhibits TGF-beta1-induced Cardiac Fibroblast Activation via Suppression of Akt Signaling.", "journal": "Scientific reports", "date": "2018", "authors": "Narikawa M, Umemura M, Tanaka R, Fujita T, Yokoyama U, Ishigami T, Kimura K, Tamura K, Ishikawa Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29674727", "url": "https://glygen.org/publication/PubMed/29674727" } ] }, { "title": "Human Cytomegalovirus Encodes a Novel FLT3 Receptor Ligand Necessary for Hematopoietic Cell Differentiation and Viral Reactivation.", "journal": "mBio", "date": "2018-04-24", "authors": "Crawford Lindsey B, Kim Jung Heon, Collins-McMillen Donna, Lee Byeong-Jae, Landais Igor, Held Christine, Nelson Jay A, Yurochko Andrew D, Caposio Patrizia", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29691342", "url": "https://glygen.org/publication/PubMed/29691342" } ] }, { "title": "Matrix stiffness-upregulated LOXL2 promotes fibronectin production, MMP9 and CXCL12 expression and BMDCs recruitment to assist pre-metastatic niche formation.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2018", "authors": "Wu S, Zheng Q, Xing X, Dong Y, Wang Y, You Y, Chen R, Hu C, Chen J, Gao D, Zhao Y, Wang Z, Xue T, Ren Z, Cui J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29728125", "url": "https://glygen.org/publication/PubMed/29728125" } ] }, { "title": "Roles of GalNAc-disialyl Lactotetraosyl Antigens in Renal Cancer Cells.", "journal": "Scientific reports", "date": "2018", "authors": "Tsuchida A, Senda M, Ito A, Saito S, Kiso M, Ando T, Harduin-Lepers A, Matsuda A, Furukawa K, Furukawa K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29728594", "url": "https://glygen.org/publication/PubMed/29728594" } ] }, { "title": "HSPC159 promotes proliferation and metastasis by inducing epithelial-mesenchymal transition and activating the PI3K/Akt pathway in breast cancer.", "journal": "Cancer science", "date": "2018", "authors": "Zheng J, Zhang M, Zhang L, Ding X, Li W, Lu S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29737572", "url": "https://glygen.org/publication/PubMed/29737572" } ] }, { "title": "Formyl Peptide Receptor 1 Modulates Endothelial Cell Functions by NADPH Oxidase-Dependent VEGFR2 Transactivation.", "journal": "Oxidative medicine and cellular longevity", "date": "2018", "authors": "Cattaneo F, Castaldo M, Parisi M, Faraonio R, Esposito G, Ammendola R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29743977", "url": "https://glygen.org/publication/PubMed/29743977" } ] }, { "title": "Roles of methyltrienolone (R1881) in AKTs and AR expression patterns of cultured granulosa-lutein cells.", "journal": "Journal of cellular biochemistry", "date": "2018", "authors": "Nekoonam S, Naji M, Mortezaee K, Amidi F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29749659", "url": "https://glygen.org/publication/PubMed/29749659" } ] }, { "title": "Targeting TWIST1 through loss of function inhibits tumorigenicity of human glioblastoma.", "journal": "Molecular oncology", "date": "2018", "authors": "Mikheev AM, Mikheeva SA, Severs LJ, Funk CC, Huang L, McFaline-Figueroa JL, Schwensen J, Trapnell C, Price ND, Wong S, Rostomily RC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29754406", "url": "https://glygen.org/publication/PubMed/29754406" } ] }, { "title": "Dopamine Receptor Subtypes Differentially Regulate Autophagy.", "journal": "International journal of molecular sciences", "date": "2018", "authors": "Wang D, Ji X, Liu J, Li Z, Zhang X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29786666", "url": "https://glygen.org/publication/PubMed/29786666" } ] }, { "title": "Comprehensive analysis of T cell leukemia signals reveals heterogeneity in the PI3 kinase-Akt pathway and limitations of PI3 kinase inhibitors as monotherapy.", "journal": "PloS one", "date": "2018", "authors": "Ksionda O, Mues M, Wandler AM, Donker L, Tenhagen M, Jun J, Ducker GS, Matlawska-Wasowska K, Shannon K, Shokat KM, Roose JP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29799846", "url": "https://glygen.org/publication/PubMed/29799846" } ] }, { "title": "TRIM59 induces epithelial-to-mesenchymal transition and promotes migration and invasion by PI3K/AKT signaling pathway in medulloblastoma.", "journal": "Oncology letters", "date": "2018", "authors": "Gao R, Lv G, Zhang C, Wang X, Chen L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29805559", "url": "https://glygen.org/publication/PubMed/29805559" } ] }, { "title": "CD24 regulates sorafenib resistance via activating autophagy in hepatocellular carcinoma.", "journal": "Cell death & disease", "date": "2018", "authors": "Lu S, Yao Y, Xu G, Zhou C, Zhang Y, Sun J, Jiang R, Shao Q, Chen Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29844385", "url": "https://glygen.org/publication/PubMed/29844385" } ] }, { "title": "Functional characterization of lysosomal interaction of Akt with VRK2.", "journal": "Oncogene", "date": "2018", "authors": "Hirata N, Suizu F, Matsuda-Lennikov M, Tanaka T, Edamura T, Ishigaki S, Donia T, Lithanatudom P, Obuse C, Iwanaga T, Noguchi M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29872222", "url": "https://glygen.org/publication/PubMed/29872222" } ] }, { "title": "Glucocorticoid-dependent REDD1 expression reduces muscle metabolism to enable adaptation under energetic stress.", "journal": "BMC biology", "date": "2018", "authors": "Britto FA, Cortade F, Belloum Y, Blaquiere M, Gallot YS, Docquier A, Pagano AF, Jublanc E, Bendridi N, Koechlin-Ramonatxo C, Chabi B, Francaux M, Casas F, Freyssenet D, Rieusset J, Giorgetti-Peraldi S, Carnac G, Ollendorff V, Favier FB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29895328", "url": "https://glygen.org/publication/PubMed/29895328" } ] }, { "title": "Computer Simulation of TSP1 Inhibition of VEGF-Akt-eNOS: An Angiogenesis Triple Threat.", "journal": "Frontiers in physiology", "date": "2018", "authors": "Bazzazi H, Zhang Y, Jafarnejad M, Isenberg JS, Annex BH, Popel AS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29899706", "url": "https://glygen.org/publication/PubMed/29899706" } ] }, { "title": "CHIP functions as an oncogene by promoting colorectal cancer metastasis via activation of MAPK and AKT signaling and suppression of E-cadherin.", "journal": "Journal of translational medicine", "date": "2018", "authors": "Xu J, Zhou J, Dai H, Liu F, Li W, Wang W, Guo F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29921293", "url": "https://glygen.org/publication/PubMed/29921293" } ] }, { "title": "WNK1 kinase and its partners Akt, SGK1 and NBC-family Na(+)/HCO3(-) cotransporters are potential therapeutic targets for glioblastoma stem-like cells linked to Bisacodyl signaling.", "journal": "Oncotarget", "date": "2018", "authors": "Chen W, Zebaze LN, Dong J, Chezeau L, Inquimbert P, Hugel S, Niu S, Bihel F, Boutant E, Real E, Villa P, Junier MP, Chneiweiss H, Hibert M, Haiech J, Kilhoffer MC, Zeniou M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29930759", "url": "https://glygen.org/publication/PubMed/29930759" } ] }, { "title": "Differential effects of GLI2 and GLI3 in regulating cervical cancer malignancy in vitro and in vivo.", "journal": "Laboratory investigation; a journal of technical methods and pathology", "date": "2018", "authors": "Zhu H, Xia L, Shen Q, Zhao M, Gu X, Bouamar H, Wang B, Sun LZ, Zhu X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29967343", "url": "https://glygen.org/publication/PubMed/29967343" } ] }, { "title": "Knockdown of Yin Yang 1 enhances anticancer effects of cisplatin through protein phosphatase 2A-mediated T308 dephosphorylation of AKT.", "journal": "Cell death & disease", "date": "2018-07-03", "authors": "Zhao Lu, Li Ran, Gan Ye-Hua", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29970878", "url": "https://glygen.org/publication/PubMed/29970878" } ] }, { "title": "Synthesis and PI 3-Kinase Inhibition Activity of Some Novel 2,4,6-Trisubstituted 1,3,5-Triazines.", "journal": "Molecules (Basel, Switzerland)", "date": "2018", "authors": "Nelson RA Jr, Schronce T, Huang Y, Albugami A, Kulik G, Welker ME", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29973512", "url": "https://glygen.org/publication/PubMed/29973512" } ] }, { "title": "Long noncoding RNA HR1 participates in the expression of SREBP1c through phosphorylation of the PDK1/AKT/FoxO1 pathway.", "journal": "Molecular medicine reports", "date": "2018", "authors": "Li D, Guo L, Deng B, Li M, Yang T, Yang F, Yang Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30015961", "url": "https://glygen.org/publication/PubMed/30015961" } ] }, { "title": "Crosstalk between PKCalpha and PI3K/AKT Signaling Is Tumor Suppressive in the Endometrium.", "journal": "Cell reports", "date": "2018", "authors": "Hsu AH, Lum MA, Shim KS, Frederick PJ, Morrison CD, Chen B, Lele SM, Sheinin YM, Daikoku T, Dey SK, Leone G, Black AR, Black JD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30021163", "url": "https://glygen.org/publication/PubMed/30021163" } ] }, { "title": "AMPK blunts chronic heart failure by inhibiting autophagy.", "journal": "Bioscience reports", "date": "2018", "authors": "Li Y, Wang Y, Zou M, Chen C, Chen Y, Xue R, Dong Y, Liu C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30021848", "url": "https://glygen.org/publication/PubMed/30021848" } ] }, { "title": "Phosphatidylinositol 3-kinase p110delta expression in Merkel cell carcinoma.", "journal": "Oncotarget", "date": "2018", "authors": "Chteinberg E, Rennspiess D, Sambo R, Tauchmann S, Kelleners-Smeets NWJ, Winnepenninckx V, Speel EJ, Kurz AK, Zenke M, Zur Hausen A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30038704", "url": "https://glygen.org/publication/PubMed/30038704" } ] }, { "title": "Inhibition of mTOR downregulates expression of DNA repair proteins and is highly efficient against BRCA2-mutated breast cancer in combination to PARP inhibition.", "journal": "Oncotarget", "date": "2018", "authors": "El Botty R, Coussy F, Hatem R, Assayag F, Chateau-Joubert S, Servely JL, Leboucher S, Fouillade C, Vacher S, Ouine B, Cartier A, de Koning L, Cottu P, Bieche I, Marangoni E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30038706", "url": "https://glygen.org/publication/PubMed/30038706" } ] }, { "title": "Thymosin beta4 inhibits PDGF-BB induced activation, proliferation, and migration of human hepatic stellate cells via its actin-binding domain.", "journal": "Expert opinion on biological therapy", "date": "2018", "authors": "Shah R, Reyes-Gordillo K, Rojkind M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30063851", "url": "https://glygen.org/publication/PubMed/30063851" } ] }, { "title": "MicroRNA-375 inhibits the proliferation, migration and invasion of kidney cancer cells by triggering apoptosis and modulation of PDK1 expression.", "journal": "Environmental toxicology and pharmacology", "date": "2018", "authors": "Wang J, Sun X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30098579", "url": "https://glygen.org/publication/PubMed/30098579" } ] }, { "title": "m(6)A mRNA methylation regulates AKT activity to promote the proliferation and tumorigenicity of endometrial cancer.", "journal": "Nature cell biology", "date": "2018", "authors": "Liu J, Eckert MA, Harada BT, Liu SM, Lu Z, Yu K, Tienda SM, Chryplewicz A, Zhu AC, Yang Y, Huang JT, Chen SM, Xu ZG, Leng XH, Yu XC, Cao J, Zhang Z, Liu J, Lengyel E, He C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30154548", "url": "https://glygen.org/publication/PubMed/30154548" } ] }, { "title": "Disentangling Host-Microbiota Regulation of Lipid Secretion by Enterocytes: Insights from Commensals Lactobacillus paracasei and Escherichia coli.", "journal": "mBio", "date": "2018", "authors": "Tazi A, Araujo JR, Mulet C, Arena ET, Nigro G, Pedron T, Sansonetti PJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30181250", "url": "https://glygen.org/publication/PubMed/30181250" } ] }, { "title": "Phosphorylation-Dependent Inhibition of Akt1.", "journal": "Genes", "date": "2018", "authors": "Balasuriya N, McKenna M, Liu X, Li SSC, O'Donoghue P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30205513", "url": "https://glygen.org/publication/PubMed/30205513" } ] }, { "title": "Magnolin targeting of ERK1/2 inhibits cell proliferation and colony growth by induction of cellular senescence in ovarian cancer cells.", "journal": "Molecular carcinogenesis", "date": "2019", "authors": "Song JH, Lee CJ, An HJ, Yoo SM, Kang HC, Lee JY, Kim KD, Kim DJ, Lee HS, Cho YY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30230030", "url": "https://glygen.org/publication/PubMed/30230030" } ] }, { "title": "Alpha-enolase regulates the malignant phenotype of pulmonary artery smooth muscle cells via the AMPK-Akt pathway.", "journal": "Nature communications", "date": "2018", "authors": "Dai J, Zhou Q, Chen J, Rexius-Hall ML, Rehman J, Zhou G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30242159", "url": "https://glygen.org/publication/PubMed/30242159" } ] }, { "title": "PAK5 Induces EMT and Promotes Cell Migration and Invasion by Activating the PI3K/AKT Pathway in Ovarian Cancer.", "journal": "Analytical cellular pathology (Amsterdam)", "date": "2018", "authors": "Li D, Pan Y, Huang Y, Zhang P, Fang X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30245957", "url": "https://glygen.org/publication/PubMed/30245957" } ] }, { "title": "CBAP modulates Akt-dependent TSC2 phosphorylation to promote Rheb-mTORC1 signaling and growth of T-cell acute lymphoblastic leukemia.", "journal": "Oncogene", "date": "2019", "authors": "Chiang YJ, Liao WT, Ho KC, Wang SH, Chen YG, Ho CL, Huang SF, Shih LY, Yang-Yen HF, Yen JJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30266989", "url": "https://glygen.org/publication/PubMed/30266989" } ] }, { "title": "E-cadherin loss induces targetable autocrine activation of growth factor signalling in lobular breast cancer.", "journal": "Scientific reports", "date": "2018", "authors": "Teo K, Gomez-Cuadrado L, Tenhagen M, Byron A, Ratze M, van Amersfoort M, Renes J, Strengman E, Mandoli A, Singh AA, Martens JH, Stunnenberg HG, van Diest PJ, Brunton VG, Derksen PWB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30337563", "url": "https://glygen.org/publication/PubMed/30337563" } ] }, { "title": "mTOR kinase leads to PTEN-loss-induced cellular senescence by phosphorylating p53.", "journal": "Oncogene", "date": "2019", "authors": "Jung SH, Hwang HJ, Kang D, Park HA, Lee HC, Jeong D, Lee K, Park HJ, Ko YG, Lee JS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30337688", "url": "https://glygen.org/publication/PubMed/30337688" } ] }, { "title": "A Recombinant Affinity Reagent Specific for a Phosphoepitope of Akt1.", "journal": "International journal of molecular sciences", "date": "2018", "authors": "McGinnis JE, Venegas LA, Lopez H, Kay BK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30355958", "url": "https://glygen.org/publication/PubMed/30355958" } ] }, { "title": "Fungal Immunomodulatory Protein from Nectria haematococca Suppresses Growth of Human Lung Adenocarcinoma by Inhibiting the PI3K/Akt Pathway.", "journal": "International journal of molecular sciences", "date": "2018", "authors": "Xie Y, Li S, Sun L, Liu S, Wang F, Wen B, Sun L, Fang X, Chai Y, Cao H, Jia N, Gu T, Lou X, Xin F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30388826", "url": "https://glygen.org/publication/PubMed/30388826" } ] }, { "title": "Marek's Disease Virus Activates the PI3K/Akt Pathway Through Interaction of Its Protein Meq With the P85 Subunit of PI3K to Promote Viral Replication.", "journal": "Frontiers in microbiology", "date": "2018", "authors": "Li H, Zhu J, He M, Luo Q, Liu F, Chen R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30405592", "url": "https://glygen.org/publication/PubMed/30405592" } ] }, { "title": "The critical role of AMPK in driving Akt activation under stress, tumorigenesis and drug resistance.", "journal": "Nature communications", "date": "2018-11-09", "authors": "Han Fei, Li Chien-Feng, Cai Zhen, Zhang Xian, Jin Guoxiang, Zhang Wei-Na, Xu Chuan, Wang Chi-Yun, Morrow John, Zhang Shuxing, Xu Dazhi, Wang Guihua, Lin Hui-Kuan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30413706", "url": "https://glygen.org/publication/PubMed/30413706" } ] }, { "title": "The geranyl acetophenone tHGA attenuates human bronchial smooth muscle proliferation via inhibition of AKT phosphorylation.", "journal": "Scientific reports", "date": "2018", "authors": "Yap HM, Lee YZ, Harith HH, Tham CL, Cheema MS, Shaari K, Israf DA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30413753", "url": "https://glygen.org/publication/PubMed/30413753" } ] }, { "title": "NUMB maintains bone mass by promoting degradation of PTEN and GLI1 via ubiquitination in osteoblasts.", "journal": "Bone research", "date": "2018", "authors": "Ye L, Lou F, Yu F, Zhang D, Wang C, Wu F, Li X, Ping Y, Yang X, Yang J, Chen D, Gao B, Huang D, Liu P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30455992", "url": "https://glygen.org/publication/PubMed/30455992" } ] }, { "title": "Targeting PRMT5/Akt signalling axis prevents human lung cancer cell growth.", "journal": "Journal of cellular and molecular medicine", "date": "2019-02", "authors": "Zhang Shikui, Ma Yaqiong, Hu Xiaoyan, Zheng Yonghua, Chen Xiaoke", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30461193", "url": "https://glygen.org/publication/PubMed/30461193" } ] }, { "title": "Tonic ATP-mediated growth suppression in peripheral nerve glia requires arrestin-PP2 and is evaded in NF1.", "journal": "Acta neuropathologica communications", "date": "2018", "authors": "Coover RA, Healy TE, Guo L, Chaney KE, Hennigan RF, Thomson CS, Aschbacher-Smith LE, Jankowski MP, Ratner N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30470263", "url": "https://glygen.org/publication/PubMed/30470263" } ] }, { "title": "AKT phosphorylation sites of Ser473 and Thr308 regulate AKT degradation.", "journal": "Bioscience, biotechnology, and biochemistry", "date": "2019", "authors": "Wei Y, Zhou J, Yu H, Jin X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30488766", "url": "https://glygen.org/publication/PubMed/30488766" } ] }, { "title": "Protein Phosphatase 1 Regulatory Subunit SDS22 Inhibits Breast Cancer Cell Tumorigenesis by Functioning as a Negative Regulator of the AKT Signaling Pathway.", "journal": "Neoplasia (New York, N.Y.)", "date": "2019", "authors": "Paul D, Bargale AB, Rapole S, Shetty PK, Santra MK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30500680", "url": "https://glygen.org/publication/PubMed/30500680" } ] }, { "title": "Enhancing TFEB-Mediated Cellular Degradation Pathways by the mTORC1 Inhibitor Quercetin.", "journal": "Oxidative medicine and cellular longevity", "date": "2018", "authors": "Huang Y, Chen Y, Shaw AM, Goldfine H, Tian J, Cai J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30510622", "url": "https://glygen.org/publication/PubMed/30510622" } ] }, { "title": "A769662 Inhibits Insulin-Stimulated Akt Activation in Human Macrovascular Endothelial Cells Independent of AMP-Activated Protein Kinase.", "journal": "International journal of molecular sciences", "date": "2018-12-05", "authors": "Strembitska Anastasiya, Mancini Sarah J, Gamwell Jonathan M, Palmer Timothy M, Baillie George S, Salt Ian P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30563079", "url": "https://glygen.org/publication/PubMed/30563079" } ] }, { "title": "Loss of Phd2 cooperates with BRAF(V600E) to drive melanomagenesis.", "journal": "Nature communications", "date": "2018", "authors": "Liu S, Zhang G, Guo J, Chen X, Lei J, Ze K, Dong L, Dai X, Gao Y, Song D, Ecker BL, Yang R, Feltcher C, Peng K, Feng C, Chen H, Lee RX, Kerestes H, Niu J, Kumar S, Xu W, Zhang J, Wei Z, Martin JS, Liu X, Mills G, Lu Y, Guo W, Sun L, Zhang L, Weeraratna A, Herlyn M, Wei W, Lee FS, Xu X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30575721", "url": "https://glygen.org/publication/PubMed/30575721" } ] }, { "title": "The mTORC1/4E-BP1 axis represents a critical signaling node during fibrogenesis.", "journal": "Nature communications", "date": "2019", "authors": "Woodcock HV, Eley JD, Guillotin D, Plate M, Nanthakumar CB, Martufi M, Peace S, Joberty G, Poeckel D, Good RB, Taylor AR, Zinn N, Redding M, Forty EJ, Hynds RE, Swanton C, Karsdal M, Maher TM, Bergamini G, Marshall RP, Blanchard AD, Mercer PF, Chambers RC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30602778", "url": "https://glygen.org/publication/PubMed/30602778" } ] }, { "title": "A Possible Reason to Induce Acute Graft-vs.-Host Disease After Hematopoietic Stem Cell Transplantation: Lack of Sirtuin-1 in CD4(+) T Cells.", "journal": "Frontiers in immunology", "date": "2018", "authors": "Xu YJ, Chen FP, Chen Y, Fu B, Liu EY, Zou L, Liu LX", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30622543", "url": "https://glygen.org/publication/PubMed/30622543" } ] }, { "title": "STAT3 enhances the constitutive activity of AGC kinases in melanoma by transactivating PDK1.", "journal": "Cell & bioscience", "date": "2019", "authors": "Picco ME, Castro MV, Quezada MJ, Barbero G, Villanueva MB, Fernandez NB, Kim H, Lopez-Bergami P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30622697", "url": "https://glygen.org/publication/PubMed/30622697" } ] }, { "title": "AKT/protein kinase B associates with beta-actin in the nucleus of melanoma cells.", "journal": "Bioscience reports", "date": "2019", "authors": "Coa LL, Abreu TF, Tashima AK, Green J, Pascon RC, Vallim MA, Machado-Jr J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30643008", "url": "https://glygen.org/publication/PubMed/30643008" } ] }, { "title": "Activating PTEN Tumor Suppressor Expression with the CRISPR/dCas9 System.", "journal": "Molecular therapy. Nucleic acids", "date": "2019", "authors": "Moses C, Nugent F, Waryah CB, Garcia-Bloj B, Harvey AR, Blancafort P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30654190", "url": "https://glygen.org/publication/PubMed/30654190" } ] }, { "title": "Transfection with GLS2 Glutaminase (GAB) Sensitizes Human Glioblastoma Cell Lines to Oxidative Stress by a Common Mechanism Involving Suppression of the PI3K/AKT Pathway.", "journal": "Cancers", "date": "2019", "authors": "Majewska E, Marquez J, Albrecht J, Szeliga M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30669455", "url": "https://glygen.org/publication/PubMed/30669455" } ] }, { "title": "TREM2 acts as a tumor suppressor in hepatocellular carcinoma by targeting the PI3K/Akt/beta-catenin pathway.", "journal": "Oncogenesis", "date": "2019", "authors": "Tang W, Lv B, Yang B, Chen Y, Yuan F, Ma L, Chen S, Zhang S, Xia J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30683932", "url": "https://glygen.org/publication/PubMed/30683932" } ] }, { "title": "WT1-interacting protein inhibits cell proliferation and tumorigenicity in non-small-cell lung cancer via the AKT/FOXO1 axis.", "journal": "Molecular oncology", "date": "2019", "authors": "Wu Z, Qiu M, Mi Z, Meng M, Guo Y, Jiang X, Fang J, Wang H, Zhao J, Liu Z, Qian D, Yuan Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30690883", "url": "https://glygen.org/publication/PubMed/30690883" } ] }, { "title": "SETDB1-mediated methylation of Akt promotes its K63-linked ubiquitination and activation leading to tumorigenesis.", "journal": "Nature cell biology", "date": "2019", "authors": "Wang G, Long J, Gao Y, Zhang W, Han F, Xu C, Sun L, Yang SC, Lan J, Hou Z, Cai Z, Jin G, Hsu CC, Wang YH, Hu J, Chen TY, Li H, Lee MG, Lin HK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30692626", "url": "https://glygen.org/publication/PubMed/30692626" } ] }, { "title": "Targeting MicroRNA-21 Suppresses Gastric Cancer Cell Proliferation and Migration via PTEN/Akt Signaling Axis.", "journal": "Cell transplantation", "date": "2019-03", "authors": "Zhou Hao, Liu Hongyan, Jiang Miao, Zhang Shaoren, Chen Junfeng, Fan Xiaoming", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30700111", "url": "https://glygen.org/publication/PubMed/30700111" } ] }, { "title": "Targeting allosteric site of AKT by 5,7-dimethoxy-1,4-phenanthrenequinone suppresses neutrophilic inflammation.", "journal": "EBioMedicine", "date": "2019", "authors": "Chen PJ, Ko IL, Lee CL, Hu HC, Chang FR, Wu YC, Leu YL, Wu CC, Lin CY, Pan CY, Tsai YF, Hwang TL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30709770", "url": "https://glygen.org/publication/PubMed/30709770" } ] }, { "title": "Overexpression of CDC42SE1 in A431 Cells Reduced Cell Proliferation by Inhibiting the Akt Pathway.", "journal": "Cells", "date": "2019", "authors": "Kalailingam P, Tan HB, Pan JY, Tan SH, Thanabalu T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30717410", "url": "https://glygen.org/publication/PubMed/30717410" } ] }, { "title": "Oleic acid induces migration through a FFAR1/4, EGFR and AKT-dependent pathway in breast cancer cells.", "journal": "Endocrine connections", "date": "2019", "authors": "Marcial-Medina C, Ordonez-Moreno A, Gonzalez-Reyes C, Cortes-Reynosa P, Perez Salazar E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30721135", "url": "https://glygen.org/publication/PubMed/30721135" } ] }, { "title": "PTEN self-regulates through USP11 via the PI3K-FOXO pathway to stabilize tumor suppression.", "journal": "Nature communications", "date": "2019", "authors": "Park MK, Yao Y, Xia W, Setijono SR, Kim JH, Vila IK, Chiu HH, Wu Y, Billalabeitia EG, Lee MG, Kalb RG, Hung MC, Pandolfi PP, Song SJ, Song MS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30733438", "url": "https://glygen.org/publication/PubMed/30733438" } ] }, { "title": "PI3K inhibitors protect against glucocorticoid-induced skin atrophy.", "journal": "EBioMedicine", "date": "2019-03", "authors": "Agarwal Shivani, Mirzoeva Salida, Readhead Ben, Dudley Joel T, Budunova Irina", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30737086", "url": "https://glygen.org/publication/PubMed/30737086" } ] }, { "title": "Drug Sensitivity Screening and Targeted Pathway Analysis Reveal a Multi-Driver Proliferative Mechanism and Suggest a Strategy of Combination Targeted Therapy for Colorectal Cancer Cells.", "journal": "Molecules (Basel, Switzerland)", "date": "2019", "authors": "Shen J, Li L, Yang T, Cheng N, Sun G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30754629", "url": "https://glygen.org/publication/PubMed/30754629" } ] }, { "title": "MicroRNA-143 is Associated With Pathological Complete Response and Regulates Multiple Signaling Proteins in Breast Cancer.", "journal": "Technology in cancer research & treatment", "date": "2019", "authors": "Garcia-Vazquez R, Marchat LA, Ruiz-Garcia E, Astudillo-de la Vega H, Meneses-Garcia A, Arce-Salinas C, Bargallo-Rocha E, Carlos-Reyes A, Lopez-Gonzalez JS, Perez-Plasencia C, Ramos-Payan R, Aguilar-Medina M, Lopez-Camarillo C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30755102", "url": "https://glygen.org/publication/PubMed/30755102" } ] }, { "title": "Repression of Human Papillomavirus Oncogene Expression under Hypoxia Is Mediated by PI3K/mTORC2/AKT Signaling.", "journal": "mBio", "date": "2019", "authors": "Bossler F, Kuhn BJ, Gunther T, Kraemer SJ, Khalkar P, Adrian S, Lohrey C, Holzer A, Shimobayashi M, Durst M, Mayer A, Rosl F, Grundhoff A, Krijgsveld J, Hoppe-Seyler K, Hoppe-Seyler F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30755508", "url": "https://glygen.org/publication/PubMed/30755508" } ] }, { "title": "PDE5A Suppresses Proteasome Activity Leading to Insulin Resistance in C2C12 Myotubes.", "journal": "International journal of endocrinology", "date": "2019", "authors": "Liu W, Tian X, Wu T, Liu L, Guo Y, Wang C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30774657", "url": "https://glygen.org/publication/PubMed/30774657" } ] }, { "title": "Quercetin and its metabolite isorhamnetin promote glucose uptake through different signalling pathways in myotubes.", "journal": "Scientific reports", "date": "2019", "authors": "Jiang H, Yamashita Y, Nakamura A, Croft K, Ashida H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30804434", "url": "https://glygen.org/publication/PubMed/30804434" } ] }, { "title": "Complex Systems Biology Approach in Connecting PI3K-Akt and NF-kappaB Pathways in Prostate Cancer.", "journal": "Cells", "date": "2019", "authors": "Shankar E, Weis MC, Avva J, Shukla S, Shukla M, Sreenath SN, Gupta S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30813597", "url": "https://glygen.org/publication/PubMed/30813597" } ] }, { "title": "Quantitative proteomic analyses of dynamic signalling events in cortical neurons undergoing excitotoxic cell death.", "journal": "Cell death & disease", "date": "2019", "authors": "Hoque A, Williamson NA, Ameen SS, Ciccotosto GD, Hossain MI, Oakhill JS, Ng DCH, Ang CS, Cheng HC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30824683", "url": "https://glygen.org/publication/PubMed/30824683" } ] }, { "title": "Neddylation inhibitor MLN4924 suppresses cilia formation by modulating AKT1.", "journal": "Protein & cell", "date": "2019", "authors": "Mao H, Tang Z, Li H, Sun B, Tan M, Fan S, Zhu Y, Sun Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30850948", "url": "https://glygen.org/publication/PubMed/30850948" } ] }, { "title": "Overexpression of TAF1L Promotes Cell Proliferation, Migration and Invasion in Esophageal Squamous Cell Carcinoma.", "journal": "Journal of Cancer", "date": "2019", "authors": "Zhong S, Yan H, Chen Z, Li Y, Shen Y, Wang Y, Li L, Sheng S, Wang Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30854104", "url": "https://glygen.org/publication/PubMed/30854104" } ] }, { "title": "KD025 (SLx-2119) suppresses adipogenesis at intermediate stage in human adipose-derived stem cells.", "journal": "Adipocyte", "date": "2019", "authors": "Diep DTV, Duong KHM, Choi H, Jun HS, Chun KH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30860936", "url": "https://glygen.org/publication/PubMed/30860936" } ] }, { "title": "The Parkinson's disease-linked Leucine-rich repeat kinase 2 (LRRK2) is required for insulin-stimulated translocation of GLUT4.", "journal": "Scientific reports", "date": "2019", "authors": "Funk N, Munz M, Ott T, Brockmann K, Wenninger-Weinzierl A, Kuhn R, Vogt-Weisenhorn D, Giesert F, Wurst W, Gasser T, Biskup S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30872638", "url": "https://glygen.org/publication/PubMed/30872638" } ] }, { "title": "Epimagnolin targeting on an active pocket of mammalian target of rapamycin suppressed cell transformation and colony growth of lung cancer cells.", "journal": "Molecular carcinogenesis", "date": "2019", "authors": "Yoo SM, Lee CJ, Kang HC, Lee HS, Lee JY, Kim KD, Kim DJ, An HJ, Cho YY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30887599", "url": "https://glygen.org/publication/PubMed/30887599" } ] }, { "title": "DRAM1 regulates autophagy and cell proliferation via inhibition of the phosphoinositide 3-kinase-Akt-mTOR-ribosomal protein S6 pathway.", "journal": "Cell communication and signaling : CCS", "date": "2019", "authors": "Lu T, Zhu Z, Wu J, She H, Han R, Xu H, Qin ZH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30902093", "url": "https://glygen.org/publication/PubMed/30902093" } ] }, { "title": "Overactive IGF1/Insulin Receptors and NRASQ61R Mutation Drive Mechanisms of Resistance to Pazopanib and Define Rational Combination Strategies to Treat Synovial Sarcoma.", "journal": "Cancers", "date": "2019", "authors": "Lanzi C, Dal Bo L, Favini E, Tortoreto M, Beretta GL, Arrighetti N, Zaffaroni N, Cassinelli G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30909453", "url": "https://glygen.org/publication/PubMed/30909453" } ] }, { "title": "MERTK mediated novel site Akt phosphorylation alleviates SAV1 suppression.", "journal": "Nature communications", "date": "2019", "authors": "Jiang Y, Zhang Y, Leung JY, Fan C, Popov KI, Su S, Qian J, Wang X, Holtzhausen A, Ubil E, Xiang Y, Davis I, Dokholyan NV, Wu G, Perou CM, Kim WY, Earp HS, Liu P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30944303", "url": "https://glygen.org/publication/PubMed/30944303" } ] }, { "title": "Di-n-butyl phthalate epigenetically induces reproductive toxicity via the PTEN/AKT pathway.", "journal": "Cell death & disease", "date": "2019", "authors": "Li R, Xing QW, Wu XL, Zhang L, Tang M, Tang JY, Wang JZ, Han P, Wang SQ, Wang W, Zhang W, Zhou GP, Qin ZQ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30952838", "url": "https://glygen.org/publication/PubMed/30952838" } ] }, { "title": "Annexin A2 Regulates AKT Upon H(2)O(2)-Dependent Signaling Activation in Cancer Cells.", "journal": "Cancers", "date": "2019", "authors": "Castaldo SA, Ajime T, Serrao G, Anastacio F, Rosa JT, Giacomantonio CA, Howarth A, Hill R, Madureira PA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30959964", "url": "https://glygen.org/publication/PubMed/30959964" } ] }, { "title": "PCC0208018 exerts antitumor effects by activating effector T cells.", "journal": "International journal of immunopathology and pharmacology", "date": "2019", "authors": "Ge M, Hu Z, Chen X, Du G, Wang H, Liu R, Ye L, Tian J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30968715", "url": "https://glygen.org/publication/PubMed/30968715" } ] }, { "title": "Glial Growth Factor 2 Regulates Glucose Transport in Healthy Cardiac Myocytes and During Myocardial Infarction via an Akt-Dependent Pathway.", "journal": "Frontiers in physiology", "date": "2019", "authors": "Shoop Shanell, Maria Zahra, Campolo Allison, Rashdan Nabil, Martin Dominic, Lovern Pamela, Lacombe V\u00e9ronique A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30971932", "url": "https://glygen.org/publication/PubMed/30971932" } ] }, { "title": "Green barley mitigates cytotoxicity in human lymphocytes undergoing aggressive oxidative stress, via activation of both the Lyn/PI3K/Akt and MAPK/ERK pathways.", "journal": "Scientific reports", "date": "2019", "authors": "Ruiz-Medina BE, Lerma D, Hwang M, Ross JA, Skouta R, Aguilera RJ, Kirken RA, Varela-Ramirez A, Robles-Escajeda E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30979953", "url": "https://glygen.org/publication/PubMed/30979953" } ] }, { "title": "Capsaicin Targets Lipogenesis in HepG2 Cells Through AMPK Activation, AKT Inhibition and PPARs Regulation.", "journal": "International journal of molecular sciences", "date": "2019", "authors": "Bort A, Sanchez BG, Mateos-Gomez PA, Diaz-Laviada I, Rodriguez-Henche N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30987128", "url": "https://glygen.org/publication/PubMed/30987128" } ] }, { "title": "Combined Targeting of Estrogen Receptor Alpha and XPO1 Prevent Akt Activation, Remodel Metabolic Pathways and Induce Autophagy to Overcome Tamoxifen Resistance.", "journal": "Cancers", "date": "2019", "authors": "Kulkoyluoglu-Cotul E, Smith BP, Wrobel K, Zhao YC, Chen KLA, Hieronymi K, Imir OB, Duong K, O'Callaghan C, Mehta A, Sahoo S, Haley B, Chang H, Landesman Y, Madak-Erdogan Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30987380", "url": "https://glygen.org/publication/PubMed/30987380" } ] }, { "title": "Glutathione Peroxidase 1 Promotes NSCLC Resistance to Cisplatin via ROS-Induced Activation of PI3K/AKT Pathway.", "journal": "BioMed research international", "date": "2019", "authors": "Chen B, Shen Z, Wu D, Xie X, Xu X, Lv L, Dai H, Chen J, Gan X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31032363", "url": "https://glygen.org/publication/PubMed/31032363" } ] }, { "title": "Curcumin induces apoptosis in JAK2-mutated cells by the inhibition of JAK2/STAT and mTORC1 pathways.", "journal": "Journal of cellular and molecular medicine", "date": "2019", "authors": "Petiti J, Rosso V, Lo Iacono M, Panuzzo C, Calabrese C, Signorino E, Pironi L, Cartella A, Bracco E, Pergolizzi B, Beltramo T, Fava C, Cilloni D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31033209", "url": "https://glygen.org/publication/PubMed/31033209" } ] }, { "title": "H2Se Induces Reductive Stress in HepG2 Cells and Activates Cell Autophagy by Regulating the Redox of HMGB1 Protein under Hypoxia.", "journal": "Theranostics", "date": "2019", "authors": "Pan X, Song X, Wang C, Cheng T, Luan D, Xu K, Tang B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31037139", "url": "https://glygen.org/publication/PubMed/31037139" } ] }, { "title": "Akt and STAT5 mediate naive human CD4+ T-cell early metabolic response to TCR stimulation.", "journal": "Nature communications", "date": "2019", "authors": "Jones N, Vincent EE, Cronin JG, Panetti S, Chambers M, Holm SR, Owens SE, Francis NJ, Finlay DK, Thornton CA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31053703", "url": "https://glygen.org/publication/PubMed/31053703" } ] }, { "title": "TLR4 counteracts BVRA signaling in human leukocytes via differential regulation of AMPK, mTORC1 and mTORC2.", "journal": "Scientific reports", "date": "2019", "authors": "Zhang Z, Amorosa LF, Petrova A, Coyle S, Macor M, Nair M, Lee LY, Haimovich B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31065010", "url": "https://glygen.org/publication/PubMed/31065010" } ] }, { "title": "Modulation of phospho-proteins by interferon-alpha and valproic acid in acute myeloid leukemia.", "journal": "Journal of cancer research and clinical oncology", "date": "2019", "authors": "Forthun RB, Hellesoy M, Sulen A, Kopperud RK, Sjoholt G, Bruserud O, McCormack E, Gjertsen BT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31111215", "url": "https://glygen.org/publication/PubMed/31111215" } ] }, { "title": "Profilin 2 Promotes Proliferation and Metastasis of Head and Neck Cancer Cells by Regulating PI3K/AKT/beta-Catenin Signaling Pathway.", "journal": "Oncology research", "date": "2019", "authors": "Zhou K, Chen J, Wu J, Xu Y, Wu Q, Yue J, Song Y, Li S, Zhou P, Tu W, Yang G, Jiang S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31122311", "url": "https://glygen.org/publication/PubMed/31122311" } ] }, { "title": "The histone H3 lysine-27 demethylase UTX plays a critical role in colorectal cancer cell proliferation.", "journal": "Cancer cell international", "date": "2019", "authors": "Tang X, Cai W, Cheng J, Lu P, Ma S, Chen C, Chen Y, Sun Y, Wang C, Hu P, Lv X, Sun G, Wang Y, Sheng J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31139021", "url": "https://glygen.org/publication/PubMed/31139021" } ] }, { "title": "The Oncogene IARS2 Promotes Non-small Cell Lung Cancer Tumorigenesis by Activating the AKT/MTOR Pathway.", "journal": "Frontiers in oncology", "date": "2019", "authors": "Di X, Jin X, Ma H, Wang R, Cong S, Tian C, Liu J, Zhao M, Li R, Wang K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31157169", "url": "https://glygen.org/publication/PubMed/31157169" } ] }, { "title": "Effects of Long Form of CAPON Overexpression on Glioma Cell Proliferation are Dependent on AKT/mTOR/P53 Signaling.", "journal": "International journal of medical sciences", "date": "2019", "authors": "Liang D, Song Y, Fan G, Ji D, Zhang T, Nie E, Liu X, Liang J, Yu R, Gao S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31171914", "url": "https://glygen.org/publication/PubMed/31171914" } ] }, { "title": "IGFBP7 inhibits cell proliferation by suppressing AKT activity and cell cycle progression in thyroid carcinoma.", "journal": "Cell & bioscience", "date": "2019", "authors": "Zhang L, Lian R, Zhao J, Feng X, Ye R, Pan L, Wu J, Li M, Huan Y, Cai J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31183073", "url": "https://glygen.org/publication/PubMed/31183073" } ] }, { "title": "Cellular Effects of Butyrate on Vascular Smooth Muscle Cells are Mediated through Disparate Actions on Dual Targets, Histone Deacetylase (HDAC) Activity and PI3K/Akt Signaling Network.", "journal": "International journal of molecular sciences", "date": "2019", "authors": "Mathew OP, Ranganna K, Mathew J, Zhu M, Yousefipour Z, Selvam C, Milton SG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31197106", "url": "https://glygen.org/publication/PubMed/31197106" } ] }, { "title": "SGLT1 is required for the survival of triple-negative breast cancer cells via potentiation of EGFR activity.", "journal": "Molecular oncology", "date": "2019", "authors": "Liu H, Ertay A, Peng P, Li J, Liu D, Xiong H, Zou Y, Qiu H, Hancock D, Yuan X, Huang WC, Ewing RM, Downward J, Wang Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31199048", "url": "https://glygen.org/publication/PubMed/31199048" } ] }, { "title": "Effects of insulin and pathway inhibitors on the PI3K-Akt-mTOR phosphorylation profile in acute myeloid leukemia cells.", "journal": "Signal transduction and targeted therapy", "date": "2019", "authors": "Nepstad I, Hatfield KJ, Gronningsaeter IS, Aasebo E, Hernandez-Valladares M, Hagen KM, Rye KP, Berven FS, Selheim F, Reikvam H, Bruserud O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31240133", "url": "https://glygen.org/publication/PubMed/31240133" } ] }, { "title": "Follicle-stimulating hormone promotes renal tubulointerstitial fibrosis in aging women via the AKT/GSK-3beta/beta-catenin pathway.", "journal": "Aging cell", "date": "2019", "authors": "Zhang K, Kuang L, Xia F, Chen Y, Zhang W, Zhai H, Wang C, Wang N, Lu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31243899", "url": "https://glygen.org/publication/PubMed/31243899" } ] }, { "title": "Vitamin D attenuates lipopolysaccharide-induced inflammatory response in endothelial cells through inhibition of PI3K/Akt/NF-kappaB signaling pathway.", "journal": "Die Pharmazie", "date": "2019", "authors": "Zhou W, Yuan G, Wang Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31288897", "url": "https://glygen.org/publication/PubMed/31288897" } ] }, { "title": "Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.", "journal": "Molecular genetics & genomic medicine", "date": "2019", "authors": "Zollino M, Ranieri C, Grossi V, Leoni C, Lattante S, Mazza D, Simone C, Resta N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31290289", "url": "https://glygen.org/publication/PubMed/31290289" } ] }, { "title": "Disruption of the RICTOR/mTORC2 complex enhances the response of head and neck squamous cell carcinoma cells to PI3K inhibition.", "journal": "Molecular oncology", "date": "2019-10", "authors": "Ruicci Kara M, Plantinga Paul, Pinto Nicole, Khan Mohammed I, Stecho William, Dhaliwal Sandeep S, Yoo John, Fung Kevin, MacNeil Danielle, Mymryk Joe S, Barrett John W, Howlett Christopher J, Nichols Anthony C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31393061", "url": "https://glygen.org/publication/PubMed/31393061" } ] }, { "title": "The isothiocyanate sulforaphane inhibits mTOR in an NRF2-independent manner.", "journal": "Phytomedicine : international journal of phytotherapy and phytopharmacology", "date": "2019", "authors": "Zhang Y, Gilmour A, Ahn YH, de la Vega L, Dinkova-Kostova AT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31409554", "url": "https://glygen.org/publication/PubMed/31409554" } ] }, { "title": "PKC\u03b1 is required for Akt-mTORC1 activation in non-small cell lung carcinoma (NSCLC) with EGFR mutation.", "journal": "Oncogene", "date": "2019-11", "authors": "Salama Mohamed F, Liu Mengling, Clarke Christopher J, Espaillat Mel Pilar, Haley John D, Jin Ting, Wang Daifeng, Obeid Lina M, Hannun Yusuf A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31420605", "url": "https://glygen.org/publication/PubMed/31420605" } ] }, { "title": "Microgravity inhibits decidualization via decreasing Akt activity and FOXO3a expression in human endometrial stromal cells.", "journal": "Scientific reports", "date": "2019", "authors": "Cho HJ, Baek MO, Khaliq SA, Chon SJ, Son KH, Lee SH, Yoon MS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31431660", "url": "https://glygen.org/publication/PubMed/31431660" } ] }, { "title": "A novel tumor suppressor protein encoded by circular AKT3 RNA inhibits glioblastoma tumorigenicity by competing with active phosphoinositide-dependent Kinase-1.", "journal": "Molecular cancer", "date": "2019-08-30", "authors": "Xia Xin, Li Xixi, Li Fanying, Wu Xujia, Zhang Maolei, Zhou Huangkai, Huang Nunu, Yang Xuesong, Xiao Feizhe, Liu Dawei, Yang Lixuan, Zhang Nu", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31470874", "url": "https://glygen.org/publication/PubMed/31470874" } ] }, { "title": "The E3 ligase MuRF2 plays a key role in the functional capacity of skeletal muscle fibroblasts.", "journal": "Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas", "date": "2019", "authors": "Silvestre J G, Baptista I L, Silva W J, Cruz A, Silva M T, Miyabara E H, Labeit S, Moriscot A S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31482977", "url": "https://glygen.org/publication/PubMed/31482977" } ] }, { "title": "Stimulation of mTORC2 by integrin \u03b1IIb\u03b23 is required for PI3K\u03b2-dependent activation of Akt but is dispensable for platelet spreading on fibrinogen.", "journal": "Platelets", "date": "2020-05-18", "authors": "Torti Mauro, Manganaro Daria, Visconte Caterina, Zar\u00e0 Marta, Canino Jessica, Vismara Mauro, Canobbio Ilaria, Guidetti Gianni Francesco", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31509054", "url": "https://glygen.org/publication/PubMed/31509054" } ] }, { "title": "Mechanism of Action of the Tumor Vessel Targeting Agent NGR-hTNF: Role of Both NGR Peptide and hTNF in Cell Binding and Signaling.", "journal": "International journal of molecular sciences", "date": "2019-09-12", "authors": "Valentinis Barbara, Porcellini Simona, Asperti Claudia, Cota Manuela, Zhou Dan, Di Matteo Paola, Garau Gianpiero, Zucchelli Chiara, Avanzi Nilla Roberta, Rizzardi Gian Paolo, Degano Massimo, Musco Giovanna, Traversari Catia", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31547231", "url": "https://glygen.org/publication/PubMed/31547231" } ] }, { "title": "Akt Pathway Inhibition of the Solenopsin Analog, 2-Dodecylsulfanyl-1,-4,-5,-6-tetrahydropyrimidine.", "journal": "Anticancer research", "date": "2019-10", "authors": "Uko Nne E, G\u00fcner Osman F, Bowen J Phillip, Matesic Diane F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31570426", "url": "https://glygen.org/publication/PubMed/31570426" } ] }, { "title": "Akt inhibition synergizes with polycomb repressive complex 2 inhibition in the treatment of multiple myeloma.", "journal": "Cancer science", "date": "2019-12", "authors": "Rizk Mohamed, Rizq Ola, Oshima Motohiko, Nakajima-Takagi Yaeko, Koide Shuhei, Saraya Atsunori, Isshiki Yusuke, Chiba Tetsuhiro, Yamazaki Satoshi, Ma Anqi, Jin Jian, Iwama Atsushi, Mimura Naoya", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31571328", "url": "https://glygen.org/publication/PubMed/31571328" } ] }, { "title": "Inhibition of esophageal cancer growth through the suppression of PI3K/AKT/mTOR signaling pathway.", "journal": "OncoTargets and therapy", "date": "2019", "authors": "Shi Ni, Yu Hao, Chen Tong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31571914", "url": "https://glygen.org/publication/PubMed/31571914" } ] }, { "title": "The Effect of Carbohydrate Ingestion Following Eccentric Resistance Exercise on AKT/mTOR and ERK Pathways: A Randomized, Double-Blinded, Crossover Study.", "journal": "International journal of sport nutrition and exercise metabolism", "date": "2019-11-01", "authors": "Figueiredo Vandre C, Farnfield Michelle M, Ross Megan L R, Gran Petra, Halson Shona L, Peake Jonathan M, Cameron-Smith David, Markworth James F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31592623", "url": "https://glygen.org/publication/PubMed/31592623" } ] }, { "title": "TGF\u03b2 induces stemness through non-canonical AKT-FOXO3a axis in oral squamous cell carcinoma.", "journal": "EBioMedicine", "date": "2019-10", "authors": "Li Kan, Yang Le, Li Jingyuan, Guan Chenyu, Zhang Sien, Lao Xiaomei, Ouyang Daiqiao, Zheng Guangsen, Gao Siyong, Wang Dikan, Liang Yujie, Liao Guiqing", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31629677", "url": "https://glygen.org/publication/PubMed/31629677" } ] }, { "title": "Involvement of Akt/mTOR in the Neurotoxicity of Rotenone-Induced Parkinson's Disease Models.", "journal": "International journal of environmental research and public health", "date": "2019-10-10", "authors": "Zhang Yu, Guo Hui, Guo Xinyu, Ge Denfeng, Shi Yue, Lu Xiyu, Lu Jinli, Chen Juan, Ding Fei, Zhang Qi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31658620", "url": "https://glygen.org/publication/PubMed/31658620" } ] }, { "title": "PRMT5 Promotes Human Lung Cancer Cell Apoptosis via Akt/Gsk3\u03b2 Signaling Induced by Resveratrol.", "journal": "Cell transplantation", "date": "2019-12", "authors": "Li Yong, Yang Yanxia, Liu Xiaoping, Long Yiwen, Zheng Yonghua", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31665911", "url": "https://glygen.org/publication/PubMed/31665911" } ] }, { "title": "The inhibition of Bax activation-induced apoptosis by RasGRP2 via R-Ras-PI3K-Akt signaling pathway in the endothelial cells.", "journal": "Scientific reports", "date": "2019", "authors": "Takino JI, Sato T, Nagamine K, Hori T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31723205", "url": "https://glygen.org/publication/PubMed/31723205" } ] }, { "title": "Host signaling and EGR1 transcriptional control of human cytomegalovirus replication and latency.", "journal": "PLoS pathogens", "date": "2019-11", "authors": "Buehler Jason, Carpenter Ethan, Zeltzer Sebastian, Igarashi Suzu, Rak Michael, Mikell Iliyana, Nelson Jay A, Goodrum Felicia", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31725811", "url": "https://glygen.org/publication/PubMed/31725811" } ] }, { "title": "Aspirin enhances cisplatin sensitivity of resistant non-small cell lung carcinoma stem-like cells by targeting mTOR-Akt axis to repress migration.", "journal": "Scientific reports", "date": "2019-11-15", "authors": "Khan Poulami, Bhattacharya Apoorva, Sengupta Debomita, Banerjee Shruti, Adhikary Arghya, Das Tanya", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31729456", "url": "https://glygen.org/publication/PubMed/31729456" } ] }, { "title": "Knockdown of ISOC1 inhibits the proliferation and migration and induces the apoptosis of colon cancer cells through the AKT/GSK-3beta pathway.", "journal": "Carcinogenesis", "date": "2020", "authors": "Gao B, Zhao L, Wang F, Bai H, Li J, Li M, Hu X, Cao J, Wang G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31740942", "url": "https://glygen.org/publication/PubMed/31740942" } ] }, { "title": "The role of secreted Hsp90\u03b1 in HDM-induced asthmatic airway epithelial barrier dysfunction.", "journal": "BMC pulmonary medicine", "date": "2019-11-20", "authors": "Ye Cuiping, Huang Chaowen, Zou Mengchen, Hu Yahui, Luo Lishan, Wei Yilan, Wan Xuan, Zhao Haijin, Li Wei, Cai Shaoxi, Dong Hangming", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31747880", "url": "https://glygen.org/publication/PubMed/31747880" } ] }, { "title": "Oxidative Stress-Induced Pentraxin 3 Expression Human Retinal Pigment Epithelial Cells is Involved in the Pathogenesis of Age-Related Macular Degeneration.", "journal": "International journal of molecular sciences", "date": "2019-11-29", "authors": "Hwang Narae, Kwon Min-Young, Woo Je Moon, Chung Su Wol", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31795454", "url": "https://glygen.org/publication/PubMed/31795454" } ] }, { "title": "Uev1A promotes breast cancer cell survival and chemoresistance through the AKT-FOXO1-BIM pathway.", "journal": "Cancer cell international", "date": "2019", "authors": "Wu Zhaojia, Niu Tong, Xiao Wei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31827405", "url": "https://glygen.org/publication/PubMed/31827405" } ] }, { "title": "Glucose Depletion Enhances the Stem Cell Phenotype and Gemcitabine Resistance of Cholangiocarcinoma Organoids through AKT Phosphorylation and Reactive Oxygen Species.", "journal": "Cancers", "date": "2019-12-11", "authors": "Yoshikawa Nao, Saito Yoshimasa, Manabe Hiroki, Nakaoka Toshiaki, Uchida Ryoei, Furukawa Ryo, Muramatsu Toshihide, Sugiyama Yuko, Kimura Masaki, Saito Hidetsugu", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31835877", "url": "https://glygen.org/publication/PubMed/31835877" } ] }, { "title": "An ultrasensitive fiveplex activity assay for cellular kinases.", "journal": "Scientific reports", "date": "2019-12-19", "authors": "Smolko Christian M, Janes Kevin A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31857650", "url": "https://glygen.org/publication/PubMed/31857650" } ] }, { "title": "Casticin inhibits nasopharyngeal carcinoma growth by targeting phosphoinositide 3-kinase.", "journal": "Cancer cell international", "date": "2019", "authors": "Liu Jingxian, Yang Jinghong, Hou Yuhe, Zhu Zhenwei, He Jie, Zhao Hao, Ye Xidong, Li Dengke, Wu Zhaohui, Huang Zhongxi, Hao Bingtao, Yao Kaitai", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31889900", "url": "https://glygen.org/publication/PubMed/31889900" } ] }, { "title": "Integrative genomics reveal a role for MCPIP1 in adipogenesis and adipocyte metabolism.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2020", "authors": "Losko M, Dolicka D, Pydyn N, Jankowska U, Kedracka-Krok S, Kulecka M, Paziewska A, Mikula M, Major P, Winiarski M, Budzynski A, Jura J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31893310", "url": "https://glygen.org/publication/PubMed/31893310" } ] }, { "title": "Integrin-Linked Kinase Is Involved In the Proliferation and Invasion of Esophageal Squamous Cell Carcinoma.", "journal": "Journal of Cancer", "date": "2020", "authors": "Ning Z, Zhu X, Jiang Y, Gao A, Zou S, Gu C, He C, Chen Y, Ding WQ, Zhou J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31897228", "url": "https://glygen.org/publication/PubMed/31897228" } ] }, { "title": "A Ras-LSD1 axis activates PI3K signaling through PIK3IP1 suppression.", "journal": "Oncogenesis", "date": "2020-01-02", "authors": "Lee Kyunghee, Kitagawa Mayumi, Liao Pei Ju, Virshup David M, Lee Sang Hyun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31900384", "url": "https://glygen.org/publication/PubMed/31900384" } ] }, { "title": "Isoferulic acid inhibits human leukemia cell growth through induction of G2/M\u2011phase arrest and inhibition of Akt/mTOR signaling.", "journal": "Molecular medicine reports", "date": "2020-03", "authors": "Long Zhiguo, Feng Guangjia, Zhao Na, Wu Lei, Zhu Hongbo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31922221", "url": "https://glygen.org/publication/PubMed/31922221" } ] }, { "title": "KDM4B facilitates colorectal cancer growth and glucose metabolism by stimulating TRAF6-mediated AKT activation.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2020", "authors": "Li H, Lan J, Wang G, Guo K, Han C, Li X, Hu J, Cao Z, Luo X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31931846", "url": "https://glygen.org/publication/PubMed/31931846" } ] }, { "title": "Licochalcone A Inhibits BDNF and TrkB Gene Expression and Hypoxic Growth of Human Tumor Cell Lines.", "journal": "International journal of molecular sciences", "date": "2020", "authors": "Arita M, Koike J, Yoshikawa N, Kondo M, Hemmi H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31941116", "url": "https://glygen.org/publication/PubMed/31941116" } ] }, { "title": "Paracrine senescence of human endometrial mesenchymal stem cells: a role for the insulin-like growth factor binding protein 3.", "journal": "Aging", "date": "2020-01-17", "authors": "Vassilieva Irina, Kosheverova Vera, Vitte Mikhail, Kamentseva Rimma, Shatrova Alla, Tsupkina Natalia, Skvortsova Elena, Borodkina Aleksandra, Tolkunova Elena, Nikolsky Nikolay, Burova Elena", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31951594", "url": "https://glygen.org/publication/PubMed/31951594" } ] }, { "title": "SPAG5-AS1 inhibited autophagy and aggravated apoptosis of podocytes via SPAG5/AKT/mTOR pathway.", "journal": "Cell proliferation", "date": "2020", "authors": "Xu J, Deng Y, Wang Y, Sun X, Chen S, Fu G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31957155", "url": "https://glygen.org/publication/PubMed/31957155" } ] }, { "title": "FGFRL1 affects chemoresistance of small-cell lung cancer by modulating the PI3K/Akt pathway via ENO1.", "journal": "Journal of cellular and molecular medicine", "date": "2020-02", "authors": "Chen Rui, Li Deyu, Zheng Meng, Chen Bin, Wei Ting, Wang Yu, Li Man, Huang Weimei, Tong Qin, Wang Qi, Zhu Yaru, Fang Wei, Guo Linlang, Fang Shun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31957179", "url": "https://glygen.org/publication/PubMed/31957179" } ] }, { "title": "Antitumor activity of celastrol by inhibition of proliferation, invasion, and migration in cholangiocarcinoma via PTEN/PI3K/Akt pathway.", "journal": "Cancer medicine", "date": "2020-01", "authors": "Zhu Biqiang, Wei Yunwei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31957323", "url": "https://glygen.org/publication/PubMed/31957323" } ] }, { "title": "The pro- and anti-cancer effects of oxycodone are associated with epithelial growth factor receptor level in cancer cells.", "journal": "Bioscience reports", "date": "2020-02-28", "authors": "Yu Yuqin, Li Dapeng, Duan Ji'an, Xu Hongshuang, Li Li, Tan Dengwu, Yan Hong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31967294", "url": "https://glygen.org/publication/PubMed/31967294" } ] }, { "title": "Allylated Curcumin Analog CA6 Inhibits TrxR1 and Leads to ROS-Dependent Apoptotic Cell Death in Gastric Cancer Through Akt-FoxO3a.", "journal": "Cancer management and research", "date": "2020", "authors": "Rajamanickam Vinothkumar, Yan Tao, Wu Liangrong, Zhao Yanni, Xu Xiaohong, Zhu Heping, Chen Xi, Wang Meihong, Liu Zhoudi, Liu Zhiguo, Liang Guang, Wang Yi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32021440", "url": "https://glygen.org/publication/PubMed/32021440" } ] }, { "title": "MiR-214 Mediates Cell Proliferation and Apoptosis of Nasopharyngeal Carcinoma Through Targeting Both WWOX and PTEN.", "journal": "Cancer biotherapy & radiopharmaceuticals", "date": "2020-10", "authors": "Han Ji-Bo, Huang Mao-Ling, Li Fen, Yang Rui, Chen Shi-Ming, Tao Ze-Zhang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32101017", "url": "https://glygen.org/publication/PubMed/32101017" } ] }, { "title": "rTMS Regulates the Balance Between Proliferation and Apoptosis of Spinal Cord Derived Neural Stem/Progenitor Cells.", "journal": "Frontiers in cellular neuroscience", "date": "2019", "authors": "Zhao Chen-Guang, Qin Jie, Sun Wei, Ju Fen, Zhao Yong-Lin, Wang Rui, Sun Xiao-Long, Mou Xiang, Yuan Hua", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32116552", "url": "https://glygen.org/publication/PubMed/32116552" } ] }, { "title": "Penicilazaphilone C, a New Azaphilone, Induces Apoptosis in Gastric Cancer by Blocking the Notch Signaling Pathway.", "journal": "Frontiers in oncology", "date": "2020", "authors": "Wang Ming, Zhao Huange, Hu Juanjuan, Xu Zhen, Lin Yingying, Zhou Songlin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32117763", "url": "https://glygen.org/publication/PubMed/32117763" } ] }, { "title": "Lactic acidosis induces resistance to the pan-Akt inhibitor uprosertib in colon cancer cells.", "journal": "British journal of cancer", "date": "2020-04", "authors": "Barnes Emily M E, Xu Yitao, Benito Adrian, Herendi Lili, Siskos Alexandros P, Aboagye Eric O, Nijhuis Anke, Keun Hector C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32152504", "url": "https://glygen.org/publication/PubMed/32152504" } ] }, { "title": "Biallelic loss of FAM46C triggers tumor growth with concomitant activation of Akt signaling in multiple myeloma cells.", "journal": "Cancer science", "date": "2020", "authors": "Kanasugi J, Hanamura I, Ota A, Karnan S, Lam VQ, Mizuno S, Wahiduzzaman M, Rahman ML, Hyodo T, Konishi H, Tsuzuki S, Hosokawa Y, Takami A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32176823", "url": "https://glygen.org/publication/PubMed/32176823" } ] }, { "title": "Notch signaling increases PPAR\u03b3 protein stability and enhances lipid uptake through AKT in IL-4-stimulated THP-1 and primary human macrophages.", "journal": "FEBS open bio", "date": "2020-06", "authors": "Sangphech Naunpun, Keawvilai Pornlapat, Palaga Tanapat", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32274896", "url": "https://glygen.org/publication/PubMed/32274896" } ] }, { "title": "Human vtRNA1-1 Levels Modulate Signaling Pathways and Regulate Apoptosis in Human Cancer Cells.", "journal": "Biomolecules", "date": "2020-04-16", "authors": "Bracher Lisamaria, Ferro Iolanda, Pulido-Quetglas Carlos, Ruepp Marc-David, Johnson Rory, Polacek Norbert", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32316166", "url": "https://glygen.org/publication/PubMed/32316166" } ] }, { "title": "Effect of CIP2A and its mechanism of action in the malignant biological behavior of colorectal cancer.", "journal": "Cell communication and signaling : CCS", "date": "2020-04-22", "authors": "Chen Wei, Liang Jing-Lin, Zhou Kai, Zeng Qing-Li, Ye Jun-Wen, Huang Mei-Jin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32321509", "url": "https://glygen.org/publication/PubMed/32321509" } ] }, { "title": "Low shear stress induces endothelial cell apoptosis and monocyte adhesion by upregulating PECAM\u20111 expression.", "journal": "Molecular medicine reports", "date": "2020-06", "authors": "Xie Xiangrong, Wang Feng, Zhu Linlin, Yang Hongfeng, Pan Daorong, Liu Yan, Qu Xinliang, Gu Yue, Li Xiaobo, Chen Shaoliang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32323830", "url": "https://glygen.org/publication/PubMed/32323830" } ] }, { "title": "The high protein expression of FOXO3, but not that of FOXO1, is associated with markers of good prognosis.", "journal": "Scientific reports", "date": "2020-04-24", "authors": "Lallemand Fran\u00e7ois, Vacher Sophie, de Koning Leanne, Petitalot Ambre, Briaux Adrien, Driouch Keltouma, Callens C\u00e9line, Schnitzler Anne, Lecerf Caroline, Oulie-Bard Floriane, Barbet Aur\u00e9lie, Vincent Anne, Zinn-Justin Sophie, Lopez Bernard S, Lidereau Rosette, Bieche Ivan, Caputo Sandrine M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32332845", "url": "https://glygen.org/publication/PubMed/32332845" } ] }, { "title": "Constitutively active PIK3CA mutations are expressed by lymphatic and vascular endothelial cells in capillary lymphatic venous malformation.", "journal": "Angiogenesis", "date": "2020-08", "authors": "Le Cras Timothy D, Goines Jillian, Lakes Nora, Pastura Patricia, Hammill Adrienne M, Adams Denise M, Boscolo Elisa", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32350708", "url": "https://glygen.org/publication/PubMed/32350708" } ] }, { "title": "The novel miR-1269b-regulated protein SVEP1 induces hepatocellular carcinoma proliferation and metastasis likely through the PI3K/Akt pathway.", "journal": "Cell death & disease", "date": "2020", "authors": "Chen L, Liu D, Yi X, Qi L, Tian X, Sun B, Dong Q, Han Z, Li Q, Song T, Guo M, Zhang W, Guo H, Zhang T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32371982", "url": "https://glygen.org/publication/PubMed/32371982" } ] }, { "title": "Dysregulation of FOXO1 (Forkhead Box O1 Protein) Drives Calcification in Arterial Calcification due to Deficiency of CD73 and Is Present in Peripheral Artery Disease.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2020", "authors": "Moorhead WJ 3rd, Chu CC, Cuevas RA, Callahan J 4th, Wong R, Regan C, Boufford CK, Sur S, Liu M, Gomez D, MacTaggart JN, Kamenskiy A, Boehm M, St Hilaire C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32375544", "url": "https://glygen.org/publication/PubMed/32375544" } ] }, { "title": "PI3K-Akt-mTOR inhibition by GNE-477 inhibits renal cell carcinoma cell growth in vitro and in vivo.", "journal": "Aging", "date": "2020-05-18", "authors": "Ye Xueting, Ruan Jian-Wei, Huang Hang, Huang Wei-Ping, Zhang Yan, Zhang Fangyi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32421688", "url": "https://glygen.org/publication/PubMed/32421688" } ] }, { "title": "THP-1 macrophage cholesterol efflux is impaired by palmitoleate through Akt activation.", "journal": "PloS one", "date": "2020", "authors": "Marshall Jenika D, Courage Emily R, Elliott Ryan F, Fitzpatrick Madeline N, Kim Anne D, Lopez-Clavijo Andrea F, Woolfrey Bronwyn A, Ouimet Mireille, Wakelam Michael J O, Brown Robert J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32437392", "url": "https://glygen.org/publication/PubMed/32437392" } ] }, { "title": "A systematic molecular and pharmacologic evaluation of AKT inhibitors reveals new insight into their biological activity.", "journal": "British journal of cancer", "date": "2020-08", "authors": "Kostaras Eleftherios, Kaserer Teresa, Lazaro Glorianne, Heuss Sara Farrah, Hussain Aasia, Casado Pedro, Hayes Angela, Yandim Cihangir, Palaskas Nicolaos, Yu Yi, Schwartz Brian, Raynaud Florence, Chung Yuen-Li, Cutillas Pedro R, Vivanco Igor", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32439931", "url": "https://glygen.org/publication/PubMed/32439931" } ] }, { "title": "PLAC1 is essential for FGF7/FGFRIIIb-induced Akt-mediated cancer cell proliferation.", "journal": "Oncotarget", "date": "2020-05-19", "authors": "Rold\u00e1n Diana Barea, Grimmler Matthias, Hartmann Christoph, Hubich-Rau Stefanie, Bei\u00dfert Tim, Paret Claudia, Cagna Giuseppe, Rohde Christoph, W\u00f6ll Stefan, Koslowski Michael, T\u00fcreci \u00d6zlem, Sahin Ugur", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32499871", "url": "https://glygen.org/publication/PubMed/32499871" } ] }, { "title": "Human herpesvirus 6A promotes glycolysis in infected T cells by activation of mTOR signaling.", "journal": "PLoS pathogens", "date": "2020-06", "authors": "Wu Zhisheng, Jia Junli, Xu Xianyi, Xu Mengyuan, Peng Guangyong, Ma Jingjing, Jiang Xuefeng, Yao Jialin, Yao Kun, Li Lingyun, Tang Huamin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32516328", "url": "https://glygen.org/publication/PubMed/32516328" } ] }, { "title": "Combined inhibition of ACK1 and AKT shows potential toward targeted therapy against KRAS-mutant non-small-cell lung cancer.", "journal": "Bosnian journal of basic medical sciences", "date": "2021-04-01", "authors": "Yu Xiangjing, Liu Jie, Qiu Huawei, Hao Huiting, Zhu Jinhong, Peng Shiyun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32530390", "url": "https://glygen.org/publication/PubMed/32530390" } ] }, { "title": "Bone marrow adipose tissue is a unique adipose subtype with distinct roles in glucose homeostasis.", "journal": "Nature communications", "date": "2020-06-18", "authors": "Suchacki Karla J, Tavares Adriana A S, Mattiucci Domenico, Scheller Erica L, Papanastasiou Giorgos, Gray Calum, Sinton Matthew C, Ramage Lynne E, McDougald Wendy A, Lovdel Andrea, Sulston Richard J, Thomas Benjamin J, Nicholson Bonnie M, Drake Amanda J, Alcaide-Corral Carlos J, Said Diana, Poloni Antonella, Cinti Saverio, Macpherson Gavin J, Dweck Marc R, Andrews Jack P M, Williams Michelle C, Wallace Robert J, van Beek Edwin J R, MacDougald Ormond A, Morton Nicholas M, Stimson Roland H, Cawthorn William P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32555194", "url": "https://glygen.org/publication/PubMed/32555194" } ] }, { "title": "Human Cytomegalovirus Mediates Unique Monocyte-to-Macrophage Differentiation through the PI3K/SHIP1/Akt Signaling Network.", "journal": "Viruses", "date": "2020", "authors": "Cojohari O, Mahmud J, Altman AM, Peppenelli MA, Miller MJ, Chan GC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32560319", "url": "https://glygen.org/publication/PubMed/32560319" } ] }, { "title": "A new human adipocyte model with PTEN haploinsufficiency.", "journal": "Adipocyte", "date": "2020-12", "authors": "K\u00e4ssner Franziska, Kirstein Anna, H\u00e4ndel Norman, Schmid Gordian L, Landgraf Kathrin, Berthold Antje, Tannert Astrid, Schaefer Michael, Wabitsch Martin, Kiess Wieland, K\u00f6rner Antje, Garten Antje", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32579864", "url": "https://glygen.org/publication/PubMed/32579864" } ] }, { "title": "Icariin Attenuates Amyloid-\u03b2 (A\u03b2)-Induced Neuronal Insulin Resistance Through PTEN Downregulation.", "journal": "Frontiers in pharmacology", "date": "2020", "authors": "Zou Xiaomei, Feng Xiyao, Fu Yalin, Zheng Yuyang, Ma Mingke, Wang Changhua, Zhang Yemin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32581820", "url": "https://glygen.org/publication/PubMed/32581820" } ] }, { "title": "Platelet-derived exosomes promote neutrophil extracellular trap formation during septic shock.", "journal": "Critical care (London, England)", "date": "2020-06-29", "authors": "Jiao Yang, Li Weiwei, Wang Wei, Tong Xingyu, Xia Ran, Fan Jie, Du Jianer, Zhang Chengmi, Shi Xueyin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32600436", "url": "https://glygen.org/publication/PubMed/32600436" } ] }, { "title": "Tubeimoside\u20111 induces apoptosis in human glioma U251 cells by suppressing PI3K/Akt\u2011mediated signaling pathways.", "journal": "Molecular medicine reports", "date": "2020-08", "authors": "Cao Li-Juan, Xie Hai-Tang, Chu Zhong-Xia, Ma Yue, Wang Ming-Ming, Shi Zhuang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32627020", "url": "https://glygen.org/publication/PubMed/32627020" } ] }, { "title": "Proteomic and transcriptomic profiling identifies mediators of anchorage-independent growth and roles of inhibitor of differentiation proteins in invasive lobular carcinoma.", "journal": "Scientific reports", "date": "2020-07-13", "authors": "Tasdemir Nilgun, Ding Kai, Savariau Laura, Levine Kevin M, Du Tian, Elangovan Ashuvinee, Bossart Emily A, Lee Adrian V, Davidson Nancy E, Oesterreich Steffi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32661241", "url": "https://glygen.org/publication/PubMed/32661241" } ] }, { "title": "Insulin signaling and glucose metabolism in different hepatoma cell lines deviate from hepatocyte physiology toward a convergent aberrant phenotype.", "journal": "Scientific reports", "date": "2020-07-21", "authors": "Molinaro Angela, Becattini Barbara, Solinas Giovanni", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32694512", "url": "https://glygen.org/publication/PubMed/32694512" } ] }, { "title": "Pretreatment with the ALDH2 activator Alda\u20111 protects rat livers from ischemia/reperfusion injury by inducing autophagy.", "journal": "Molecular medicine reports", "date": "2020-09", "authors": "Liu Zhongzhong, Ye Shaojun, Zhong Xiang, Wang Wei, Lai Chin-Hui, Yang Wang, Yue Pengpeng, Luo Jun, Huang Xiaoying, Zhong Zibiao, Xiong Yan, Fan Xiaoli, Li Ling, Wang Yanfeng, Ye Qifa", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32705206", "url": "https://glygen.org/publication/PubMed/32705206" } ] }, { "title": "MAPK4 deletion enhances radiation effects and triggers synergistic lethality with simultaneous PARP1 inhibition in cervical cancer.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2020", "authors": "Tian S, Lou L, Tian M, Lu G, Tian J, Chen X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32711558", "url": "https://glygen.org/publication/PubMed/32711558" } ] }, { "title": "Insulin Stimulation of Protein Synthesis and mTOR Signaling in Chick Myotube Cultures.", "journal": "The journal of poultry science", "date": "2020-07-25", "authors": "Nakashima Kazuki, Ishida Aiko, Shimamoto Saki, Ijiri Daichi, Ohtsuka Akira", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32733154", "url": "https://glygen.org/publication/PubMed/32733154" } ] }, { "title": "The structural determinants of PH domain-mediated regulation of Akt revealed by segmental labeling.", "journal": "eLife", "date": "2020-08-03", "authors": "Chu Nam, Viennet Thibault, Bae Hwan, Salguero Antonieta, Boeszoermenyi Andras, Arthanari Haribabu, Cole Philip A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32744507", "url": "https://glygen.org/publication/PubMed/32744507" } ] }, { "title": "lncRNA PCBP1-AS1 Aggravates the Progression of Hepatocellular Carcinoma via Regulating PCBP1/PRL-3/AKT Pathway.", "journal": "Cancer management and research", "date": "2020", "authors": "Luo Tianping, Gao Yuan, Zhangyuan Guangyan, Xu Xiaoliang, Xue Cailin, Jin Lei, Zhang Wenjie, Zhu Chunfu, Sun Beicheng, Qin Xihu", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32753957", "url": "https://glygen.org/publication/PubMed/32753957" } ] }, { "title": "Overexpression of Extradomain-B Fibronectin is Associated with Invasion of Breast Cancer Cells.", "journal": "Cells", "date": "2020-08-03", "authors": "Vaidya Amita, Wang Helen, Qian Victoria, Gilmore Hannah, Lu Zheng-Rong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32756405", "url": "https://glygen.org/publication/PubMed/32756405" } ] }, { "title": "Antagonists of the serotonin receptor 5A target human breast tumor initiating cells.", "journal": "BMC cancer", "date": "2020-08-05", "authors": "Gwynne William D, Shakeel Mirza S, Girgis-Gabardo Adele, Kim Kwang H, Ford Emily, Dvorkin-Gheva Anna, Aarts Craig, Isaac Methvin, Al-Awar Rima, Hassell John A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32758183", "url": "https://glygen.org/publication/PubMed/32758183" } ] }, { "title": "EGFR/FOXO3a/BIM signaling pathway determines chemosensitivity of BMP4-differentiated glioma stem cells to temozolomide.", "journal": "Experimental & molecular medicine", "date": "2020-08", "authors": "Ciechomska Iwona Anna, Gielniewski Bartlomiej, Wojtas Bartosz, Kaminska Bozena, Mieczkowski Jakub", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32788653", "url": "https://glygen.org/publication/PubMed/32788653" } ] }, { "title": "Melatonin suppresses chronic restraint stress-mediated metastasis of epithelial ovarian cancer via NE/AKT/\u03b2-catenin/SLUG axis.", "journal": "Cell death & disease", "date": "2020-08-18", "authors": "Bu Shixia, Wang Qian, Sun Junyan, Li Xiao, Gu Tingting, Lai Dongmei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32811805", "url": "https://glygen.org/publication/PubMed/32811805" } ] }, { "title": "IGF-1R inhibition induces MEK phosphorylation to promote survival in colon carcinomas.", "journal": "Signal transduction and targeted therapy", "date": "2020-08-26", "authors": "Wang Qing, Zhang Yan, Zhu Jiang, Zheng Honggang, Chen Shuntai, Chen Li, Yang Hsin-Sheng", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32843616", "url": "https://glygen.org/publication/PubMed/32843616" } ] }, { "title": "Biological Landscape of Triple Negative Breast Cancers Expressing CTLA-4.", "journal": "Frontiers in oncology", "date": "2020", "authors": "Navarrete-Bernal Mar\u00eda G C, Cervantes-Badillo Mayte G, Mart\u00ednez-Herrera Jose Fabi\u00e1n, Lara-Torres C\u00e9sar O, Gerson-Cwilich Raquel, Zentella-Dehesa Alejandro, Ibarra-S\u00e1nchez Mar\u00eda de Jes\u00fas, Esparza-L\u00f3pez Jos\u00e9, Montesinos Juan J, Cort\u00e9s-Morales V\u00edctor Adri\u00e1n, Osorio-P\u00e9rez Diego, Villegas-Osorno Diana A, Reyes-S\u00e1nchez Eduardo, Salazar-Sojo Pablo, Tallabs-Utrilla Luis F, Romero-C\u00f3rdoba Sandra, Rocha-Zavaleta Leticia", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32850353", "url": "https://glygen.org/publication/PubMed/32850353" } ] }, { "title": "Polyphenolic Proanthocyanidin-B2 suppresses proliferation of liver cancer cells and hepatocellular carcinogenesis through directly binding and inhibiting AKT activity.", "journal": "Redox biology", "date": "2020-10", "authors": "Liu Guijun, Shi Aimin, Wang Ningning, Li Min, He Xuxiao, Yin Chunzhao, Tu Qiaochu, Shen Xia, Tao Yongzhen, Wang Qiang, Yin Huiyong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32863234", "url": "https://glygen.org/publication/PubMed/32863234" } ] }, { "title": "Endoplasmic reticulum stress causes insulin resistance by inhibiting delivery of newly synthesized insulin receptors to the cell surface.", "journal": "Molecular biology of the cell", "date": "2020-11-01", "authors": "Brown Max, Dainty Samantha, Strudwick Natalie, Mihai Adina D, Watson Jamie N, Dendooven Robina, Paton Adrienne W, Paton James C, Schr\u00f6der Martin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32877278", "url": "https://glygen.org/publication/PubMed/32877278" } ] }, { "title": "Torin2 inhibits the EGFR-TKI resistant Non-Small Lung Cancer cell proliferation through negative feedback regulation of Akt/mTOR signaling.", "journal": "Journal of Cancer", "date": "2020", "authors": "Hu Yi, Zhang Ji, Liu Qun, Ke Mingyao, Li Jiurong, Suo Wenhao, Guo Weixi, Ma Aiping", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32913468", "url": "https://glygen.org/publication/PubMed/32913468" } ] }, { "title": "A hypothesis for insulin resistance in primary human adipocytes involving MRTF-A and suppression of PPAR\u03b3.", "journal": "Biochemical and biophysical research communications", "date": "2020-11-26", "authors": "Hansson Bj\u00f6rn, Schumacher Sara, Fryklund Claes, Mor\u00e9n Bj\u00f6rn, Bj\u00f6rkqvist Maria, Sw\u00e4rd Karl, Stenkula Karin G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32921413", "url": "https://glygen.org/publication/PubMed/32921413" } ] }, { "title": "Myeloid deletion of phosphoinositide-dependent kinase-1 enhances NK cell-mediated antitumor immunity by mediating macrophage polarization.", "journal": "Oncoimmunology", "date": "2020-06-03", "authors": "He Yuexi, Du Juan, Dong Zhongjun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32923133", "url": "https://glygen.org/publication/PubMed/32923133" } ] }, { "title": "SHP2 promotes proliferation of breast cancer cells through regulating Cyclin D1 stability via the PI3K/AKT/GSK3\u03b2 signaling pathway.", "journal": "Cancer biology & medicine", "date": "2020-08-15", "authors": "Yuan Yue, Fan Yanling, Gao Zicong, Sun Xuan, Zhang He, Wang Zhiyong, Cui Yanfen, Song Weijie, Wang Zhaosong, Zhang Fei, Niu Ruifang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32944401", "url": "https://glygen.org/publication/PubMed/32944401" } ] }, { "title": "Tick-Borne Flaviviruses Depress AKT Activity during Acute Infection by Modulating AKT1/2.", "journal": "Viruses", "date": "2020-09-23", "authors": "Kirsch Joshua M, Mlera Luwanika, Offerdahl Danielle K, VanSickle Marthe, Bloom Marshall E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32977414", "url": "https://glygen.org/publication/PubMed/32977414" } ] }, { "title": "The Botanical Drug PBI-05204, a Supercritical CO2 Extract of Nerium Oleander, Inhibits Growth of Human Glioblastoma, Reduces Akt/mTOR Activities, and Modulates GSC Cell-Renewal Properties.", "journal": "Frontiers in pharmacology", "date": "2020", "authors": "Colapietro Alessandro, Yang Peiying, Rossetti Alessandra, Mancini Andrea, Vitale Flora, Martellucci Stefano, Conway Tara L, Chakraborty Sharmistha, Marampon Francesco, Mattei Vincenzo, Gravina Giovanni Luca, Biordi Assunta Leda, Wei Daoyan, Newman Robert A, Festuccia Claudio", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33013390", "url": "https://glygen.org/publication/PubMed/33013390" } ] }, { "title": "Direct stimulation of ERBB2 highlights a novel cytostatic signaling pathway driven by the receptor Thr701 phosphorylation.", "journal": "Scientific reports", "date": "2020-10-09", "authors": "Gaviraghi Marco, Rabellino Andrea, Andolfo Annapaola, Brand Matthias, Brombin Chiara, Bagnato Paola, De Feudis Giuseppina, Raimondi Andrea, Locatelli Alberta, Tosoni Daniela, Mazza Davide, Gianni Luca, Tonon Giovanni, Yarden Yosef, Tacchetti Carlo, Daniele Tiziana", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33037285", "url": "https://glygen.org/publication/PubMed/33037285" } ] }, { "title": "Re-expression of DIRAS3 and p53 induces apoptosis and impaired autophagy in head and neck squamous cell carcinoma.", "journal": "Military Medical Research", "date": "2020-10-11", "authors": "Liu Zhe, Hurst Douglas R, Qu Xing, Lu Li-Guang, Wu Chen-Zhou, Li Yu-Yu, Li Yi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33038921", "url": "https://glygen.org/publication/PubMed/33038921" } ] }, { "title": "RAL GTPases mediate multiple myeloma cell survival and are activated independently of oncogenic RAS.", "journal": "Haematologica", "date": "2020", "authors": "Seibold M, Stuhmer T, Kremer N, Mottok A, Scholz CJ, Schlosser A, Leich E, Holzgrabe U, Brunnert D, Barrio S, Kortum MK, Solimando AG, Chatterjee M, Einsele H, Rosenwald A, Bargou RC, Steinbrunn T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33054056", "url": "https://glygen.org/publication/PubMed/33054056" } ] }, { "title": "LncRNA RNCR3 Promotes the Progression of HCC by Activating the Akt/GSK3\u03b2 Signaling Pathway.", "journal": "Evidence-based complementary and alternative medicine : eCAM", "date": "2020", "authors": "Xie Qi, Ju Tongfa, Zhou Chunhua, Zhai Lulu", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33062024", "url": "https://glygen.org/publication/PubMed/33062024" } ] }, { "title": "Resveratrol inhibits bile acid-induced gastric intestinal metaplasia via the PI3K/AKT/p-FoxO4 signalling pathway.", "journal": "Phytotherapy research : PTR", "date": "2021-03", "authors": "Lu Wenquan, Ni Zhen, Jiang Shuqin, Tong Mingfu, Zhang Jian, Zhao Jing, Feng Chenchen, Jia Qiaoyu, Wang Jingyun, Yao Tingting, Ning Hanbing, Shi Yongquan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33103284", "url": "https://glygen.org/publication/PubMed/33103284" } ] }, { "title": "Targeting SKA3 suppresses the proliferation and chemoresistance of laryngeal squamous cell carcinoma via impairing PLK1-AKT axis-mediated glycolysis.", "journal": "Cell death & disease", "date": "2020-10-26", "authors": "Gao Wei, Zhang Yuliang, Luo Hongjie, Niu Min, Zheng Xiwang, Hu Wanglai, Cui Jiajia, Xue Xuting, Bo Yunfeng, Dai Fengsheng, Lu Yan, Yang Dongli, Guo Yujia, Guo Huina, Li Huizheng, Zhang Yu, Yang Tao, Li Li, Zhang Linshi, Hou Rui, Wen Shuxin, An Changming, Ma Teng, Jin Lei, Xu Wei, Wu Yongyan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33106477", "url": "https://glygen.org/publication/PubMed/33106477" } ] }, { "title": "Suppressive effects of plumbagin on the growth of human bladder cancer cells via PI3K/AKT/mTOR signaling pathways and EMT.", "journal": "Cancer cell international", "date": "2020", "authors": "Zhang Renjie, Wang Zijian, You Wenjie, Zhou Fengfang, Guo Zicheng, Qian Kaiyu, Xiao Yu, Wang Xinghuan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33117085", "url": "https://glygen.org/publication/PubMed/33117085" } ] }, { "title": "YTHDF2 mediates the mRNA degradation of the tumor suppressors to induce AKT phosphorylation in N6-methyladenosine-dependent way in prostate cancer.", "journal": "Molecular cancer", "date": "2020-10-29", "authors": "Li Jiangfeng, Xie Haiyun, Ying Yufan, Chen Hong, Yan Huaqing, He Liujia, Xu Mingjie, Xu Xin, Liang Zhen, Liu Ben, Wang Xiao, Zheng Xiangyi, Xie Liping", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33121495", "url": "https://glygen.org/publication/PubMed/33121495" } ] }, { "title": "Myostatin-1 Inhibits Cell Proliferation by Inhibiting the mTOR Signal Pathway and MRFs, and Activating the Ubiquitin-Proteasomal System in Skeletal Muscle Cells of Japanese Flounder Paralichthys olivaceus.", "journal": "Cells", "date": "2020-10-29", "authors": "Liu Jiahuan, Pan Mingzhu, Huang Dong, Guo Yanlin, Yang Mengxi, Zhang Wenbing, Mai Kangsen", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33138208", "url": "https://glygen.org/publication/PubMed/33138208" } ] }, { "title": "Ultrasound-Targeted Microbubble Destruction Mediated si-CyclinD1 Inhibits the Development of Hepatocellular Carcinoma via Suppression of PI3K/AKT Signaling Pathway.", "journal": "Cancer management and research", "date": "2020", "authors": "Yan Wei, Cheng Li, Zhang Dongmei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33149688", "url": "https://glygen.org/publication/PubMed/33149688" } ] }, { "title": "Cell Death Triggered by the Autophagy Inhibitory Drug 3-Methyladenine in Growing Conditions Proceeds With DNA Damage.", "journal": "Frontiers in pharmacology", "date": "2020", "authors": "Chicote Javier, Yuste V\u00edctor J, Boix Jacint, Ribas Judit", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33178023", "url": "https://glygen.org/publication/PubMed/33178023" } ] }, { "title": "Discovery of (S)-2-(1-(4-Amino-3-(3-fluoro-4-methoxyphenyl)-1H-pyrazolo[3,4-d]pyrimidin-1-yl)propyl)-3-cyclopropyl-5-fluoroquinazolin-4(3H)-one (IHMT-PI3K\u03b4-372) as a Potent and Selective PI3K\u03b4 Inhibitor for the Treatment of Chronic Obstructive Pulmonary Disease.", "journal": "Journal of medicinal chemistry", "date": "2020-11-25", "authors": "Li Feng, Liang Xiaofei, Jiang Zongru, Wang Aoli, Wang Junjie, Chen Cheng, Wang Wenliang, Zou Fengming, Qi Ziping, Liu Qingwang, Hu Zhenquan, Cao Jiangyan, Wu Hong, Wang Beilei, Wang Li, Liu Jing, Liu Qingsong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33180507", "url": "https://glygen.org/publication/PubMed/33180507" } ] }, { "title": "Sitagliptin Modulates the Response of Ovarian Cancer Cells to Chemotherapeutic Agents.", "journal": "International journal of molecular sciences", "date": "2020-11-26", "authors": "Kosowska Agnieszka, Garczorz Wojciech, K\u0142ych-Ratuszny Agnieszka, Aghdam Mohammad Reza F, Kimsa-Furdzik Ma\u0142gorzata, Simka-Lampa Klaudia, Francuz Tomasz", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33256016", "url": "https://glygen.org/publication/PubMed/33256016" } ] }, { "title": "Effects of Inonotus obliquus Polysaccharides on Proliferation, Invasion, Migration, and Apoptosis of Osteosarcoma Cells.", "journal": "Analytical cellular pathology (Amsterdam)", "date": "2020", "authors": "Su Baohui, Yan Xuezhi, Li Yuezhong, Zhang Junshan, Xia Xiaoyan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33282634", "url": "https://glygen.org/publication/PubMed/33282634" } ] }, { "title": "Combined PI3K\u03b1-mTOR Targeting of Glioma Stem Cells.", "journal": "Scientific reports", "date": "2020-12-14", "authors": "Eckerdt Frank D, Bell Jonathan B, Gonzalez Christopher, Oh Michael S, Perez Ricardo E, Mazewski Candice, Fischietti Mariafausta, Goldman Stewart, Nakano Ichiro, Platanias Leonidas C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33318517", "url": "https://glygen.org/publication/PubMed/33318517" } ] }, { "title": "Differential Regulation of mTOR Complexes with miR-302a Attenuates Myocardial Reperfusion Injury in Diabetes.", "journal": "iScience", "date": "2020-12-18", "authors": "Samidurai Arun, Ockaili Ramzi, Cain Chad, Roh Sean K, Filippone Scott M, Kraskauskas Donatas, Kukreja Rakesh C, Das Anindita", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33319180", "url": "https://glygen.org/publication/PubMed/33319180" } ] }, { "title": "Propolis Suppresses UV-Induced Photoaging in Human Skin through Directly Targeting Phosphoinositide 3-Kinase.", "journal": "Nutrients", "date": "2020-12-10", "authors": "Kim Da Hyun, Auh Joong-Hyuck, Oh Jeongyeon, Hong Seungpyo, Choi Sungbin, Shin Eun Ju, Woo Soon Ok, Lim Tae-Gyu, Byun Sanguine", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33322005", "url": "https://glygen.org/publication/PubMed/33322005" } ] }, { "title": "Hexameric procyanidins inhibit colorectal cancer cell growth through both redox and non-redox regulation of the epidermal growth factor signaling pathway.", "journal": "Redox biology", "date": "2021-01", "authors": "Daveri Elena, Adamo Ana M, Alfine Eugenia, Zhu Wei, Oteiza Patricia I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33338921", "url": "https://glygen.org/publication/PubMed/33338921" } ] }, { "title": "Geniposide improves insulin resistance through AMPK-mediated Txnip protein degradation in 3T3-L1 adipocytes.", "journal": "Acta biochimica et biophysica Sinica", "date": "2021-02-04", "authors": "Zhao Wanjun, Pu Mengru, Shen Shenli, Yin Fei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33349852", "url": "https://glygen.org/publication/PubMed/33349852" } ] }, { "title": "Prognostic Role of the Activated p-AKT Molecule in Various Hematologic Malignancies and Solid Tumors: A Meta-Analysis.", "journal": "Frontiers in oncology", "date": "2020", "authors": "Yao Zhen, Gao Guangyu, Yang Jiawen, Long Yuming, Wang Zhenzhen, Hu Wentao, Liu Yulong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33363017", "url": "https://glygen.org/publication/PubMed/33363017" } ] }, { "title": "Perphenazine exerts antitumor effects on HUT78 cells through Akt dephosphorylation by protein phosphatase 2A.", "journal": "Oncology letters", "date": "2021-02", "authors": "Tsuji Shunya, Kohyanagi Naoki, Mizuno Takuya, Ohama Takashi, Sato Koichi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33376545", "url": "https://glygen.org/publication/PubMed/33376545" } ] }, { "title": "Knockout of Akt1/2 suppresses the metastasis of human prostate cancer cells CWR22rv1 in vitro and in vivo.", "journal": "Journal of cellular and molecular medicine", "date": "2021-02", "authors": "Su Bing, Zhang Lijuan, Zhuang Wenfang, Zhang Wei, Chen Xiaofan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33377281", "url": "https://glygen.org/publication/PubMed/33377281" } ] }, { "title": "Comparing mTOR inhibitor Rapamycin with Torin-2 within the RIST molecular-targeted regimen in neuroblastoma cells.", "journal": "International journal of medical sciences", "date": "2021", "authors": "Waetzig Rebecca, Matthes Marie, Leister Johannes, Penkivech Gina, Heise Tilman, Corbacioglu Selim, Sommer Gunhild", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33390782", "url": "https://glygen.org/publication/PubMed/33390782" } ] }, { "title": "Synergism between the phosphatidylinositol 3-kinase p110\u03b2 isoform inhibitor AZD6482 and the mixed lineage kinase 3 inhibitor URMC-099 on the blockade of glioblastoma cell motility and focal adhesion formation.", "journal": "Cancer cell international", "date": "2021-01-06", "authors": "Zhao Hua-Fu, Wu Chang-Peng, Zhou Xiu-Ming, Diao Peng-Yu, Xu Yan-Wen, Liu Jing, Wang Jing, Huang Xian-Jian, Liu Wen-Lan, Chen Zhong-Ping, Huang Guo-Dong, Li Wei-Ping", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33407478", "url": "https://glygen.org/publication/PubMed/33407478" } ] }, { "title": "KNSTRN promotes tumorigenesis and gemcitabine resistance by activating AKT in bladder cancer.", "journal": "Oncogene", "date": "2021", "authors": "Xiong Y, Ju L, Yuan L, Chen L, Wang G, Xu H, Peng T, Luo Y, Xiao Y, Wang X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33452459", "url": "https://glygen.org/publication/PubMed/33452459" } ] }, { "title": "PI3K/Akt pathway and Nanog maintain cancer stem cells in sarcomas.", "journal": "Oncogenesis", "date": "2021-01-19", "authors": "Yoon Changhwan, Lu Jun, Yi Brendan C, Chang Kevin K, Simon M Celeste, Ryeom Sandra, Yoon Sam S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33468992", "url": "https://glygen.org/publication/PubMed/33468992" } ] }, { "title": "Curcumin suppresses cell growth and attenuates fluoride-mediated Caspase-3 activation in ameloblast-like LS8 cells.", "journal": "Environmental pollution (Barking, Essex : 1987)", "date": "2021-01-11", "authors": "Fujiwara Natsumi, Whitford Gary M, Bartlett John D, Suzuki Maiko", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33486250", "url": "https://glygen.org/publication/PubMed/33486250" } ] }, { "title": "TROAP switches DYRK1 activity to drive hepatocellular carcinoma progression.", "journal": "Cell death & disease", "date": "2021", "authors": "Li L, Wei JR, Song Y, Fang S, Du Y, Li Z, Zeng TT, Zhu YH, Li Y, Guan XY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33500384", "url": "https://glygen.org/publication/PubMed/33500384" } ] }, { "title": "Inhibition of mitochondrial carrier homolog 2 (MTCH2) suppresses tumor invasion and enhances sensitivity to temozolomide in malignant glioma.", "journal": "Molecular medicine (Cambridge, Mass.)", "date": "2021", "authors": "Yuan Q, Yang W, Zhang S, Li T, Zuo M, Zhou X, Li J, Li M, Xia X, Chen M, Liu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33509092", "url": "https://glygen.org/publication/PubMed/33509092" } ] }, { "title": "CDK6 is stimulated by hyperthermia and protects gastric cancer cells from hyperthermia\u2011induced damage.", "journal": "Molecular medicine reports", "date": "2021-04", "authors": "Liu Guanghui, Zhao Hongchao, Ding Qingqing, Li Haohao, Liu Tao, Yang Hongwei, Liu Yuanhua", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33537819", "url": "https://glygen.org/publication/PubMed/33537819" } ] }, { "title": "The high expression of NUDT5 indicates poor prognosis of breast cancer by modulating AKT / Cyclin D signaling.", "journal": "PloS one", "date": "2021", "authors": "Zhang H, Zhang LQ, Yang CC, Li J, Tian XY, Li DN, Cui J, Cai JP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33571243", "url": "https://glygen.org/publication/PubMed/33571243" } ] }, { "title": "miR-18a promotes glioblastoma development by down-regulating ALOXE3-mediated ferroptotic and anti-migration activities.", "journal": "Oncogenesis", "date": "2021-02-12", "authors": "Yang Xinzhi, Liu Jiangang, Wang Chenci, Cheng Kenneth King-Yip, Xu Hongchao, Li Qingzhong, Hua Tian, Jiang Xue, Sheng Lili, Mao Jie, Liu Zhuohao", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33579899", "url": "https://glygen.org/publication/PubMed/33579899" } ] }, { "title": "Loss of PR55\u03b1 promotes proliferation and metastasis by activating MAPK/AKT signaling in hepatocellular carcinoma.", "journal": "Cancer cell international", "date": "2021-02-15", "authors": "Zhao JiangSheng, Chen GuoFeng, Li Jingqi, Liu Shiqi, Jin Quan, Zhang ZhengWei, Qi Fuzhen, Zhang JianHuai, Xu JianBo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33588847", "url": "https://glygen.org/publication/PubMed/33588847" } ] }, { "title": "Phospho-Form Specific Substrates of Protein Kinase B (AKT1).", "journal": "Frontiers in bioengineering and biotechnology", "date": "2020", "authors": "McKenna McShane, Balasuriya Nileeka, Zhong Shanshan, Li Shawn Shun-Cheng, O'Donoghue Patrick", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33614606", "url": "https://glygen.org/publication/PubMed/33614606" } ] }, { "title": "Consistent Long-Term Therapeutic Efficacy of Human Umbilical Cord Matrix-Derived Mesenchymal Stromal Cells After Myocardial Infarction Despite Individual Differences and Transient Engraftment.", "journal": "Frontiers in cell and developmental biology", "date": "2021", "authors": "Laundos Tiago L, Vasques-N\u00f3voa Francisco, Gomes Rita N, Sampaio-Pinto Vasco, Cruz Pedro, Cruz H\u00e9lder, Santos Jorge M, Barcia Rita N, Pinto-do-\u00d3 Perp\u00e9tua, Nascimento Diana S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33614654", "url": "https://glygen.org/publication/PubMed/33614654" } ] }, { "title": "Rituximab and obinutuzumab differentially hijack the B cell receptor and NOTCH1 signaling pathways.", "journal": "iScience", "date": "2021-02-19", "authors": "Edelmann Jennifer, Dokal Arran D, Vilventhraraja Emma, Holzmann Karlheinz, Britton David, Klymenko Tetyana, D\u00f6hner Hartmut, Cragg Mark, Braun Andrejs, Cutillas Pedro, Gribben John G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33615197", "url": "https://glygen.org/publication/PubMed/33615197" } ] }, { "title": "Akt Is S-Palmitoylated: A New Layer of Regulation for Akt.", "journal": "Frontiers in cell and developmental biology", "date": "2021", "authors": "Blaustein Mat\u00edas, Piegari Estefan\u00eda, Mart\u00ednez Calejman Camila, Vila Antonella, Amante Anal\u00eda, Manese Mar\u00eda Victoria, Zeida Ari, Abrami Laurence, Veggetti Mariela, Guertin David A, van der Goot F Gisou, Corvi Mar\u00eda Martha, Colman-Lerner Alejandro", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33659252", "url": "https://glygen.org/publication/PubMed/33659252" } ] }, { "title": "Signaling Heterogeneity is Defined by Pathway Architecture and Intercellular Variability in Protein Expression.", "journal": "iScience", "date": "2021-02-19", "authors": "Norris Dougall, Yang Pengyi, Shin Sung-Young, Kearney Alison L, Kim Hani Jieun, Geddes Thomas, Senior Alistair M, Fazakerley Daniel J, Nguyen Lan K, James David E, Burchfield James G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33659881", "url": "https://glygen.org/publication/PubMed/33659881" } ] }, { "title": "Prolonged cetuximab treatment promotes p27Kip1-mediated G1 arrest and autophagy in head and neck squamous cell carcinoma.", "journal": "Scientific reports", "date": "2021-03-04", "authors": "Okuyama Kohei, Suzuki Keiji, Naruse Tomofumi, Tsuchihashi Hiroki, Yanamoto Souichi, Kaida Atsushi, Miura Masahiko, Umeda Masahiro, Yamashita Shunichi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33664437", "url": "https://glygen.org/publication/PubMed/33664437" } ] }, { "title": "Phosphoinositide 3-Kinase (PI3K) Reactive Oxygen Species (ROS)-Activated Prodrug in Combination with Anthracycline Impairs PI3K Signaling, Increases DNA Damage Response and Reduces Breast Cancer Cell Growth.", "journal": "International journal of molecular sciences", "date": "2021-02-19", "authors": "Mishra Rosalin, Yuan Long, Patel Hima, Karve Aniruddha S, Zhu Haizhou, White Aaron, Alanazi Samar, Desai Pankaj, Merino Edward J, Garrett Joan T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33669867", "url": "https://glygen.org/publication/PubMed/33669867" } ] }, { "title": "Knockdown of AKT3 Activates HER2 and DDR Kinases in Bone-Seeking Breast Cancer Cells, Promotes Metastasis In Vivo and Attenuates the TGF\u03b2/CTGF Axis.", "journal": "Cells", "date": "2021-02-18", "authors": "Hinz Nico, Baranowsky Anke, Horn Michael, Kriegs Malte, Sibbertsen Freya, Smit Daniel J, Clezardin Philippe, Lange Tobias, Schinke Thorsten, J\u00fccker Manfred", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33670586", "url": "https://glygen.org/publication/PubMed/33670586" } ] }, { "title": "CircRNA circ_0124554 blocked the ubiquitination of AKT promoting the skip lymphovascular invasion on hepatic metastasis in colorectal cancer.", "journal": "Cell death & disease", "date": "2021-03-15", "authors": "Tang Junwei, Zhang Chuan, Huang Yuanjian, Wang Lu, Xu Ziwei, Zhang Dongsheng, Zhang Yue, Peng Wen, Feng Yifei, Sun Yueming", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33723214", "url": "https://glygen.org/publication/PubMed/33723214" } ] }, { "title": "MicroRNA-185 inhibits the proliferation and migration of HaCaT keratinocytes by targeting peroxisome proliferator-activated receptor \u03b2.", "journal": "Experimental and therapeutic medicine", "date": "2021-04", "authors": "Yang Jingzhe, Deng Pingyang, Qi Yonggang, Feng Xinshu, Wen Hailing, Chen Fengping", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33732339", "url": "https://glygen.org/publication/PubMed/33732339" } ] }, { "title": "Transmembrane and coiled-coil domain family 3 (TMCC3) regulates breast cancer stem cell and AKT activation.", "journal": "Oncogene", "date": "2021", "authors": "Wang YH, Chan YT, Hung TH, Hung JT, Kuo MW, Wang SH, Huang Y, Lin YJ, Chen SC, Yu JC, Wu JC, Yu J, Yu AL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33742122", "url": "https://glygen.org/publication/PubMed/33742122" } ] }, { "title": "Exosomal miR-10b-5p mediates cell communication of gastric cancer cells and fibroblasts and facilitates cell proliferation.", "journal": "Journal of Cancer", "date": "2021", "authors": "Yan Ting, Wang Xiaping, Wei Guohua, Li Hai, Hao Leiyu, Liu Yan, Yu Xinqian, Zhu Wei, Liu Ping, Zhu Yichao, Zhou Xin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33754012", "url": "https://glygen.org/publication/PubMed/33754012" } ] }, { "title": "Growth and Viability of Cutaneous Squamous Cell Carcinoma Cell Lines Display Different Sensitivities to Isoform-Specific Phosphoinositide 3-Kinase Inhibitors.", "journal": "International journal of molecular sciences", "date": "2021-03-30", "authors": "Mannella Viviana, Boehm Kira, Celik Suheyla, Ali Tasnim, Mirza Amnah N, El Hasnaouy Mariam, Kaffa Andreas, Lyu Yanshuang, Kafaei Golahmadi Donya, Leigh Irene M, Bergamaschi Daniele, Harwood Catherine A, Maffucci Tania", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33808215", "url": "https://glygen.org/publication/PubMed/33808215" } ] }, { "title": "Bracovirus-mediated innexin hemichannel closure in cell disassembly.", "journal": "iScience", "date": "2021-04-23", "authors": "Chen Chang-Xu, He Hao-Juan, Cai Qiu-Chen, Zhang Wei, Kou Tian-Chao, Zhang Xue-Wen, You Shan, Chen Ya-Bin, Liu Tian, Xiao Wei, Zhu Qi-Shun, Luo Kai-Jun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33817584", "url": "https://glygen.org/publication/PubMed/33817584" } ] }, { "title": "PRMT5 Promotes EMT Through Regulating Akt Activity in Human Lung Cancer.", "journal": "Cell transplantation", "date": "2021", "authors": "Huang Jianhao, Zheng Yonghua, Zheng Xiao, Qian Bao, Yin Qi, Lu Jingjing, Lei Han", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33829865", "url": "https://glygen.org/publication/PubMed/33829865" } ] }, { "title": "Brain insulin signaling and cerebrovascular disease in human postmortem brain.", "journal": "Acta neuropathologica communications", "date": "2021-04-15", "authors": "Arvanitakis Zoe, Capuano Ana W, Wang Hoau-Yan, Schneider Julie A, Kapasi Alifiya, Bennett David A, Ahima Rexford S, Arnold Steven E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33858515", "url": "https://glygen.org/publication/PubMed/33858515" } ] }, { "title": "Lentivirus-mediated silencing of CNTN1 enhances gefitinib sensitivity by reversing epithelial-mesenchymal transition in lung adenocarcinoma A549 cells.", "journal": "Oncology letters", "date": "2021-06", "authors": "Hu Chun-Sheng, Huang Jiu-Hong, Yang Dong-Lin, Xu Chuan, Xu Zhi-Gang, Tan Hong-Bo, Chen Zhong-Zhu", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33868471", "url": "https://glygen.org/publication/PubMed/33868471" } ] }, { "title": "DHCR24 Knock-Down Induced Tau Hyperphosphorylation at Thr181, Ser199, Thr231, Ser262, Ser396 Epitopes and Inhibition of Autophagy by Overactivation of GSK3\u03b2/mTOR Signaling.", "journal": "Frontiers in aging neuroscience", "date": "2021", "authors": "Bai Xiaojing, Wu Junfeng, Zhang Mengqi, Xu Yixuan, Duan Lijie, Yao Kai, Zhang Jianfeng, Bo Jimei, Zhao Yongfei, Xu Guoxiong, Zu Hengbing", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33967735", "url": "https://glygen.org/publication/PubMed/33967735" } ] }, { "title": "Fuzheng Jiedu Xiaoji formulation inhibits hepatocellular carcinoma progression in patients by targeting the AKT/CyclinD1/p21/p27 pathway.", "journal": "Phytomedicine : international journal of phytotherapy and phytopharmacology", "date": "2021-07", "authors": "Yang Xue, Feng Ying, Liu Yao, Ye Xieqiong, Ji Xiaomin, Sun Le, Gao Fangyuan, Zhang Qun, Li Yuxin, Zhu Bingbing, Wang XianBo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33984593", "url": "https://glygen.org/publication/PubMed/33984593" } ] }, { "title": "Yes-Associated Protein (Yap) Is Up-Regulated in Heart Failure and Promotes Cardiac Fibroblast Proliferation.", "journal": "International journal of molecular sciences", "date": "2021-06-07", "authors": "Sharifi-Sanjani Maryam, Berman Mariah, Goncharov Dmitry, Alhamaydeh Mohammad, Avolio Theodore Guy, Baust Jeffrey, Chang Baojun, Kobir Ahasanul, Ross Mark, St Croix Claudette, Nouraie Seyed Mehdi, McTiernan Charles F, Moravec Christine S, Goncharova Elena, Al Ghouleh Imad", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "34200497", "url": "https://glygen.org/publication/PubMed/34200497" } ] }, { "title": "Pancracine, a Montanine-Type Amaryllidaceae Alkaloid, Inhibits Proliferation of A549 Lung Adenocarcinoma Cells and Induces Apoptotic Cell Death in MOLT-4 Leukemic Cells.", "journal": "International journal of molecular sciences", "date": "2021-06-29", "authors": "Koutov\u00e1 Darja, Havelek Radim, Peterov\u00e1 Eva, Muthn\u00e1 Darina, Kr\u00e1lovec Karel, Breiterov\u00e1 Kate\u0159ina, Cahl\u00edkov\u00e1 Lucie, \u0158ez\u00e1\u010dov\u00e1 Martina", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "34209868", "url": "https://glygen.org/publication/PubMed/34209868" } ] }, { "title": "Antiproliferative activity of CD44 siRNA-PEI-PEG nanoparticles in glioblastoma: involvement of AKT signaling.", "journal": "Research in pharmaceutical sciences", "date": "2022-02", "authors": "Mahinfar Parvaneh, Mokhtarzadeh Ahad, Baradaran Behzad, Siasi Torbati Elham", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "34909046", "url": "https://glygen.org/publication/PubMed/34909046" } ] }, { "title": "circPTEN suppresses colorectal cancer progression through regulating PTEN/AKT pathway.", "journal": "Molecular therapy. Nucleic acids", "date": "2021-12-03", "authors": "Li Chen, Li Xu", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "34938598", "url": "https://glygen.org/publication/PubMed/34938598" } ] }, { "title": "Akt Inhibition as Preconditioning Treatment to Protect Kidney Cells against Anoxia.", "journal": "International journal of molecular sciences", "date": "2021-12-23", "authors": "Melis Nicolas, Carcy Romain, Rubera Isabelle, Cougnon Marc, Duranton Christophe, Tauc Michel, Pisani Didier F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35008578", "url": "https://glygen.org/publication/PubMed/35008578" } ] }, { "title": "Quantification of protein-protein interactions and activation dynamics: A new path to predictive biomarkers.", "journal": "Biophysical chemistry", "date": "2022-04", "authors": "Larijani Banafsh\u00e9, Miles James", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35114593", "url": "https://glygen.org/publication/PubMed/35114593" } ] }, { "title": "MLLT11-TRIL complex promotes the progression of endometrial cancer through PI3K/AKT/mTOR signaling pathway.", "journal": "Cancer biology & therapy", "date": "2022-12-31", "authors": "Liao Jingnan, Chen Huan, Qi Mingming, Wang Jinjin, Wang Mingyuan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35253622", "url": "https://glygen.org/publication/PubMed/35253622" } ] }, { "title": "miRNA-Dependent Regulation of AKT1 Phosphorylation.", "journal": "Cells", "date": "2022-02-26", "authors": "Frederick Mallory I, Siddika Tarana, Zhang Pengcheng, Balasuriya Nileeka, Turk Matthew A, O'Donoghue Patrick, Heinemann Ilka U", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35269443", "url": "https://glygen.org/publication/PubMed/35269443" } ] }, { "title": "Calcium/calmodulin-dependent protein kinase kinase 2 mediates pleiotropic effects of epidermal growth factor in cancer cells.", "journal": "Biochimica et biophysica acta. Molecular cell research", "date": "2022-07", "authors": "Dai Shuhang, Venturini Elisa, Yadav Saveg, Lin Xiaoxuan, Clapp Dylan, Steckiewicz Martin, Gocher-Demske Angela M, Hardie D Grahame, Edelman Arthur M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35271909", "url": "https://glygen.org/publication/PubMed/35271909" } ] }, { "title": "Interaction of TLK1 and AKTIP as a Potential Regulator of AKT Activation in Castration-Resistant Prostate Cancer Progression.", "journal": "Pathophysiology : the official journal of the International Society for Pathophysiology", "date": "2021-07-20", "authors": "Khalil Md Imtiaz, Madere Christopher, Ghosh Ishita, Adam Rosalyn M, De Benedetti Arrigo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35366279", "url": "https://glygen.org/publication/PubMed/35366279" } ] }, { "title": "IL-6 Responsiveness of CD4+ and CD8+ T Cells after Allogeneic Stem Cell Transplantation Differs between Patients and Is Associated with Previous Acute Graft versus Host Disease and Pretransplant Antithymocyte Globulin Therapy.", "journal": "Journal of clinical medicine", "date": "2022-04-30", "authors": "Tvedt Tor Henrik Anderson, Rose-John Stefan, Tsykunova Galina, Ahmed Aymen Bushra, Gedde-Dahl Tobias, Ersv\u00e6r Elisabeth, Bruserud \u00d8ystein", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35566660", "url": "https://glygen.org/publication/PubMed/35566660" } ] }, { "title": "Insulin-like growth factor 2 promotes osteoclastogenesis increasing inflammatory cytokine levels under hypoxia.", "journal": "Journal of pharmacological sciences", "date": "2022", "authors": "Kondo T, Aoki H, Otsuka Y, Kawaguchi Y, Waguri-Nagaya Y, Aoyama M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35641033", "url": "https://glygen.org/publication/PubMed/35641033" } ] }, { "title": "Aristolone in Nardostachys jatamansi DC. induces mesenteric vasodilation and ameliorates hypertension via activation of the KATP channel and PDK1-Akt-eNOS pathway.", "journal": "Phytomedicine : international journal of phytotherapy and phytopharmacology", "date": "2022-09", "authors": "Fang Jingmei, Li Ran, Zhang Yue, Oduro Patrick Kwabena, Li Sa, Leng Ling, Wang Zhimei, Rao Yao, Niu Lu, Wu Hong-Hua, Wang Qilong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35738117", "url": "https://glygen.org/publication/PubMed/35738117" } ] }, { "title": "AKT phosphorylation as a predictive biomarker for PI3K/mTOR dual inhibition-induced proteolytic cleavage of mTOR companion proteins in small cell lung cancer.", "journal": "Cell & bioscience", "date": "2022-08-02", "authors": "Hung Ming-Chun, Wang Wan-Ping, Chi Ya-Hui", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35918763", "url": "https://glygen.org/publication/PubMed/35918763" } ] }, { "title": "The RNA-binding protein AUF1 facilitates Akt phosphorylation at the membrane.", "journal": "The Journal of biological chemistry", "date": "2022-10", "authors": "Li Mei-Ling, Ragupathi Aparna, Patel Nikhil, Hernandez Tatiana, Magsino Jedrick, Werlen Guy, Brewer Gary, Jacinto Estela", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36041631", "url": "https://glygen.org/publication/PubMed/36041631" } ] }, { "title": "FBXL16 Promotes Endometrial Progesterone Resistance via PP2A(B55alpha) /Cyclin D1 Axis in Ishikawa.", "journal": "Journal of immunology research", "date": "2022", "authors": "Liu H, Han L, Zhong L, Zhuang X, Peng Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36106050", "url": "https://glygen.org/publication/PubMed/36106050" } ] }, { "title": "CircSEMA4B inhibits the progression of breast cancer by encoding a novel protein SEMA4B-211aa and regulating AKT phosphorylation.", "journal": "Cell death & disease", "date": "2022", "authors": "Wang X, Jian W, Luo Q, Fang L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36115854", "url": "https://glygen.org/publication/PubMed/36115854" } ] }, { "title": "KDOAM-25 Overcomes Resistance to MEK Inhibitors by Targeting KDM5B in Uveal Melanoma.", "journal": "BioMed research international", "date": "2022", "authors": "Zhang Hongjun, Liu Xiangnan, Chen Yong'an, Xu Rui, He Shengli", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36212716", "url": "https://glygen.org/publication/PubMed/36212716" } ] }, { "title": "Silibinin suppresses TGF\u03b22-induced lens epithelial cell migration and epithelial-mesenchymal transition.", "journal": "Journal of biosciences", "date": "2022", "authors": "Malaviya Pooja B, Shukal Dhaval K, Sharma Tusha, Vasavada Abhay R, Sr Kaid Johar", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36222151", "url": "https://glygen.org/publication/PubMed/36222151" } ] }, { "title": "Interactive contribution of hyperinsulinemia, hyperglycemia, and mammalian target of rapamycin signaling to valvular interstitial cell differentiation and matrix remodeling.", "journal": "Frontiers in cardiovascular medicine", "date": "2022", "authors": "Selig Jessica I, Krug H Viviana, K\u00fcppers Caroline, Ouwens D Margriet, Kraft Felix A, Adler Elena, Bauer Sebastian J, Lichtenberg Artur, Akhyari Payam, Barth Mareike", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36386326", "url": "https://glygen.org/publication/PubMed/36386326" } ] }, { "title": "N6-methyladenosine plays a dual role in arsenic carcinogenesis by temporal-specific control of core target AKT1.", "journal": "Journal of hazardous materials", "date": "2022-11-24", "authors": "Zhao Tianhe, Sun Donglei, Xiong Wenxiao, Man Jin, Zhang Qian, Zhao Manyu, Zhang Zunzhen", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36444808", "url": "https://glygen.org/publication/PubMed/36444808" } ] }, { "title": "Adenoviral transgene expression of MMAC/PTEN in human glioma cells inhibits Akt activation and induces anoikis.", "journal": "Cancer research", "date": "1998-12-01", "authors": "Davies M A, Lu Y, Sano T, Fang X, Tang P, LaPushin R, Koul D, Bookstein R, Stokoe D, Yung W K, Mills G B, Steck P A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "9850049", "url": "https://glygen.org/publication/PubMed/9850049" } ] }, { "title": "Inactivation and dephosphorylation of protein kinase Balpha (PKBalpha) promoted by hyperosmotic stress.", "journal": "The EMBO journal", "date": "1998", "authors": "Meier R, Thelen M, Hemmings BA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "9857186", "url": "https://glygen.org/publication/PubMed/9857186" } ] }, { "title": "Synthesis and structure based optimization of novel Akt inhibitors.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2008", "authors": "Lippa B, Pan G, Corbett M, Li C, Kauffman GS, Pandit J, Robinson S, Wei L, Kozina E, Marr ES, Borzillo G, Knauth E, Barbacci-Tobin EG, Vincent P, Troutman M, Baker D, Rajamohan F, Kakar S, Clark T, Morris J", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18456494", "url": "https://glygen.org/publication/PubMed/18456494" } ] }, { "title": "Ack1 mediated AKT/PKB tyrosine 176 phosphorylation regulates its activation.", "journal": "PloS one", "date": "2010", "authors": "Mahajan K, Coppola D, Challa S, Fang B, Chen YA, Zhu W, Lopez AS, Koomen J, Engelman RW, Rivera C, Muraoka-Cook RS, Cheng JQ, Schonbrunn E, Sebti SM, Earp HS, Mahajan NP", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20333297", "url": "https://glygen.org/publication/PubMed/20333297" } ] }, { "title": "Design of selective, ATP-competitive inhibitors of Akt.", "journal": "Journal of medicinal chemistry", "date": "2010", "authors": "Freeman-Cook KD, Autry C, Borzillo G, Gordon D, Barbacci-Tobin E, Bernardo V, Briere D, Clark T, Corbett M, Jakubczak J, Kakar S, Knauth E, Lippa B, Luzzio MJ, Mansour M, Martinelli G, Marx M, Nelson K, Pandit J, Rajamohan F, Robinson S, Subramanyam C, Wei L, Wythes M, Morris J", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20481595", "url": "https://glygen.org/publication/PubMed/20481595" } ] }, { "title": "Activation of protein kinase B beta and gamma isoforms by insulin in vivo and by 3-phosphoinositide-dependent protein kinase-1 in vitro: comparison with protein kinase B alpha.", "journal": "The Biochemical journal", "date": "1998", "authors": "Walker KS, Deak M, Paterson A, Hudson K, Cohen P, Alessi DR", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "9512493", "url": "https://glygen.org/publication/PubMed/9512493" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18728220", "url": "https://glygen.org/publication/PubMed/18728220", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32830957", "url": "https://glygen.org/publication/PubMed/32830957", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32892442", "url": "https://glygen.org/publication/PubMed/32892442", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26412745", "url": "https://glygen.org/publication/PubMed/26412745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16684529", "url": "https://glygen.org/publication/PubMed/16684529", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30100348", "url": "https://glygen.org/publication/PubMed/30100348", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22564745", "url": "https://glygen.org/publication/PubMed/22564745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20668475", "url": "https://glygen.org/publication/PubMed/20668475", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29706631", "url": "https://glygen.org/publication/PubMed/29706631", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22687243", "url": "https://glygen.org/publication/PubMed/22687243", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://oglcnac.org/atlas/detail/P31749", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12244301", "url": "https://glygen.org/publication/PubMed/12244301", "database": "PubMed", "categories": [ "Other" ] }, { "id": "8978681", "url": "https://glygen.org/publication/PubMed/8978681", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs2140905232", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140905232", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2140905232", "url": "https://www.ensembl.org/id/rs2140905232", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "10226025", "url": "https://glygen.org/publication/PubMed/10226025", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9368760", "url": "https://glygen.org/publication/PubMed/9368760", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12167717", "url": "https://glygen.org/publication/PubMed/12167717", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15718470", "url": "https://glygen.org/publication/PubMed/15718470", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9094314", "url": "https://glygen.org/publication/PubMed/9094314", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19602588", "url": "https://glygen.org/publication/PubMed/19602588", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20361045", "url": "https://glygen.org/publication/PubMed/20361045", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24352480", "url": "https://glygen.org/publication/PubMed/24352480", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25912234", "url": "https://glygen.org/publication/PubMed/25912234", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12808134", "url": "https://glygen.org/publication/PubMed/12808134", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21798082", "url": "https://glygen.org/publication/PubMed/21798082", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18477468", "url": "https://glygen.org/publication/PubMed/18477468", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25719244", "url": "https://glygen.org/publication/PubMed/25719244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15678105", "url": "https://glygen.org/publication/PubMed/15678105", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25678401", "url": "https://glygen.org/publication/PubMed/25678401", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21464307", "url": "https://glygen.org/publication/PubMed/21464307", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11278835", "url": "https://glygen.org/publication/PubMed/11278835", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10833263", "url": "https://glygen.org/publication/PubMed/10833263", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9859994", "url": "https://glygen.org/publication/PubMed/9859994", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11445557", "url": "https://glygen.org/publication/PubMed/11445557", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12149249", "url": "https://glygen.org/publication/PubMed/12149249", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14500673", "url": "https://glygen.org/publication/PubMed/14500673", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16253990", "url": "https://glygen.org/publication/PubMed/16253990", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16603397", "url": "https://glygen.org/publication/PubMed/16603397", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://www.ebi.ac.uk/intact/interactors/id:P31749*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "18650932", "url": "https://glygen.org/publication/PubMed/18650932", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16437163", "url": "https://glygen.org/publication/PubMed/16437163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P31749", "database": "PRO", "categories": [ "Other" ] }, { "id": "16549426", "url": "https://glygen.org/publication/PubMed/16549426", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10226029", "url": "https://glygen.org/publication/PubMed/10226029", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10454216", "url": "https://glygen.org/publication/PubMed/10454216", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10722653", "url": "https://glygen.org/publication/PubMed/10722653", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10874027", "url": "https://glygen.org/publication/PubMed/10874027", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10943719", "url": "https://glygen.org/publication/PubMed/10943719", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11007949", "url": "https://glygen.org/publication/PubMed/11007949", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11020382", "url": "https://glygen.org/publication/PubMed/11020382", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11042204", "url": "https://glygen.org/publication/PubMed/11042204", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11162641", "url": "https://glygen.org/publication/PubMed/11162641", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11278269", "url": "https://glygen.org/publication/PubMed/11278269", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11313365", "url": "https://glygen.org/publication/PubMed/11313365", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11350959", "url": "https://glygen.org/publication/PubMed/11350959", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11358816", "url": "https://glygen.org/publication/PubMed/11358816", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11359783", "url": "https://glygen.org/publication/PubMed/11359783", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11389054", "url": "https://glygen.org/publication/PubMed/11389054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11465707", "url": "https://glygen.org/publication/PubMed/11465707", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11546775", "url": "https://glygen.org/publication/PubMed/11546775", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11602740", "url": "https://glygen.org/publication/PubMed/11602740", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11679435", "url": "https://glygen.org/publication/PubMed/11679435", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11731021", "url": "https://glygen.org/publication/PubMed/11731021", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11752635", "url": "https://glygen.org/publication/PubMed/11752635", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11818508", "url": "https://glygen.org/publication/PubMed/11818508", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11825911", "url": "https://glygen.org/publication/PubMed/11825911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11877406", "url": "https://glygen.org/publication/PubMed/11877406", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11893783", "url": "https://glygen.org/publication/PubMed/11893783", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11896604", "url": "https://glygen.org/publication/PubMed/11896604", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12000750", "url": "https://glygen.org/publication/PubMed/12000750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12034358", "url": "https://glygen.org/publication/PubMed/12034358", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12107725", "url": "https://glygen.org/publication/PubMed/12107725", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12176337", "url": "https://glygen.org/publication/PubMed/12176337", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12208782", "url": "https://glygen.org/publication/PubMed/12208782", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12351701", "url": "https://glygen.org/publication/PubMed/12351701", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12373610", "url": "https://glygen.org/publication/PubMed/12373610", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12388598", "url": "https://glygen.org/publication/PubMed/12388598", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12399007", "url": "https://glygen.org/publication/PubMed/12399007", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12429987", "url": "https://glygen.org/publication/PubMed/12429987", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12556562", "url": "https://glygen.org/publication/PubMed/12556562", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12654898", "url": "https://glygen.org/publication/PubMed/12654898", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12682057", "url": "https://glygen.org/publication/PubMed/12682057", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12686550", "url": "https://glygen.org/publication/PubMed/12686550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12835332", "url": "https://glygen.org/publication/PubMed/12835332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12939297", "url": "https://glygen.org/publication/PubMed/12939297", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14551191", "url": "https://glygen.org/publication/PubMed/14551191", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14568991", "url": "https://glygen.org/publication/PubMed/14568991", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14603261", "url": "https://glygen.org/publication/PubMed/14603261", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14668339", "url": "https://glygen.org/publication/PubMed/14668339", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14971662", "url": "https://glygen.org/publication/PubMed/14971662", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14971663", "url": "https://glygen.org/publication/PubMed/14971663", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14985356", "url": "https://glygen.org/publication/PubMed/14985356", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14997209", "url": "https://glygen.org/publication/PubMed/14997209", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15026145", "url": "https://glygen.org/publication/PubMed/15026145", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15026550", "url": "https://glygen.org/publication/PubMed/15026550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15150572", "url": "https://glygen.org/publication/PubMed/15150572", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15157674", "url": "https://glygen.org/publication/PubMed/15157674", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15183529", "url": "https://glygen.org/publication/PubMed/15183529", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15191562", "url": "https://glygen.org/publication/PubMed/15191562", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15289499", "url": "https://glygen.org/publication/PubMed/15289499", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15327518", "url": "https://glygen.org/publication/PubMed/15327518", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15364915", "url": "https://glygen.org/publication/PubMed/15364915", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15372623", "url": "https://glygen.org/publication/PubMed/15372623", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15456405", "url": "https://glygen.org/publication/PubMed/15456405", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15505622", "url": "https://glygen.org/publication/PubMed/15505622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15574783", "url": "https://glygen.org/publication/PubMed/15574783", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15641106", "url": "https://glygen.org/publication/PubMed/15641106", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15738003", "url": "https://glygen.org/publication/PubMed/15738003", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15767780", "url": "https://glygen.org/publication/PubMed/15767780", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15782140", "url": "https://glygen.org/publication/PubMed/15782140", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15867390", "url": "https://glygen.org/publication/PubMed/15867390", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15942714", "url": "https://glygen.org/publication/PubMed/15942714", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15998799", "url": "https://glygen.org/publication/PubMed/15998799", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16009726", "url": "https://glygen.org/publication/PubMed/16009726", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16046309", "url": "https://glygen.org/publication/PubMed/16046309", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16100524", "url": "https://glygen.org/publication/PubMed/16100524", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16103100", "url": "https://glygen.org/publication/PubMed/16103100", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16168126", "url": "https://glygen.org/publication/PubMed/16168126", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16169930", "url": "https://glygen.org/publication/PubMed/16169930", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16275989", "url": "https://glygen.org/publication/PubMed/16275989", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16288304", "url": "https://glygen.org/publication/PubMed/16288304", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16299382", "url": "https://glygen.org/publication/PubMed/16299382", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16306364", "url": "https://glygen.org/publication/PubMed/16306364", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16330671", "url": "https://glygen.org/publication/PubMed/16330671", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16419156", "url": "https://glygen.org/publication/PubMed/16419156", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16531397", "url": "https://glygen.org/publication/PubMed/16531397", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16543232", "url": "https://glygen.org/publication/PubMed/16543232", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16585200", "url": "https://glygen.org/publication/PubMed/16585200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16619307", "url": "https://glygen.org/publication/PubMed/16619307", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16636147", "url": "https://glygen.org/publication/PubMed/16636147", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16731842", "url": "https://glygen.org/publication/PubMed/16731842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16763108", "url": "https://glygen.org/publication/PubMed/16763108", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16763222", "url": "https://glygen.org/publication/PubMed/16763222", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16916597", "url": "https://glygen.org/publication/PubMed/16916597", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16940331", "url": "https://glygen.org/publication/PubMed/16940331", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16987028", "url": "https://glygen.org/publication/PubMed/16987028", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16987514", "url": "https://glygen.org/publication/PubMed/16987514", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17028898", "url": "https://glygen.org/publication/PubMed/17028898", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17041888", "url": "https://glygen.org/publication/PubMed/17041888", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17077344", "url": "https://glygen.org/publication/PubMed/17077344", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17096325", "url": "https://glygen.org/publication/PubMed/17096325", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17158952", "url": "https://glygen.org/publication/PubMed/17158952", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17196679", "url": "https://glygen.org/publication/PubMed/17196679", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17198778", "url": "https://glygen.org/publication/PubMed/17198778", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17234785", "url": "https://glygen.org/publication/PubMed/17234785", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17259384", "url": "https://glygen.org/publication/PubMed/17259384", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17313857", "url": "https://glygen.org/publication/PubMed/17313857", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17339610", "url": "https://glygen.org/publication/PubMed/17339610", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17400190", "url": "https://glygen.org/publication/PubMed/17400190", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17407381", "url": "https://glygen.org/publication/PubMed/17407381", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17468516", "url": "https://glygen.org/publication/PubMed/17468516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17520061", "url": "https://glygen.org/publication/PubMed/17520061", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17548608", "url": "https://glygen.org/publication/PubMed/17548608", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17556533", "url": "https://glygen.org/publication/PubMed/17556533", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17562705", "url": "https://glygen.org/publication/PubMed/17562705", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17594810", "url": "https://glygen.org/publication/PubMed/17594810", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17615157", "url": "https://glygen.org/publication/PubMed/17615157", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17684018", "url": "https://glygen.org/publication/PubMed/17684018", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17826953", "url": "https://glygen.org/publication/PubMed/17826953", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17848913", "url": "https://glygen.org/publication/PubMed/17848913", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17883592", "url": "https://glygen.org/publication/PubMed/17883592", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17910952", "url": "https://glygen.org/publication/PubMed/17910952", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17928291", "url": "https://glygen.org/publication/PubMed/17928291", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17960559", "url": "https://glygen.org/publication/PubMed/17960559", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17971124", "url": "https://glygen.org/publication/PubMed/17971124", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17977950", "url": "https://glygen.org/publication/PubMed/17977950", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18006275", "url": "https://glygen.org/publication/PubMed/18006275", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18006659", "url": "https://glygen.org/publication/PubMed/18006659", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18054038", "url": "https://glygen.org/publication/PubMed/18054038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18197291", "url": "https://glygen.org/publication/PubMed/18197291", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18199958", "url": "https://glygen.org/publication/PubMed/18199958", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18204829", "url": "https://glygen.org/publication/PubMed/18204829", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18262492", "url": "https://glygen.org/publication/PubMed/18262492", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18305032", "url": "https://glygen.org/publication/PubMed/18305032", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18332867", "url": "https://glygen.org/publication/PubMed/18332867", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18391071", "url": "https://glygen.org/publication/PubMed/18391071", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18409144", "url": "https://glygen.org/publication/PubMed/18409144", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18443205", "url": "https://glygen.org/publication/PubMed/18443205", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18535836", "url": "https://glygen.org/publication/PubMed/18535836", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18557931", "url": "https://glygen.org/publication/PubMed/18557931", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18615850", "url": "https://glygen.org/publication/PubMed/18615850", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18691227", "url": "https://glygen.org/publication/PubMed/18691227", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18725974", "url": "https://glygen.org/publication/PubMed/18725974", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18795165", "url": "https://glygen.org/publication/PubMed/18795165", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18801898", "url": "https://glygen.org/publication/PubMed/18801898", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18838385", "url": "https://glygen.org/publication/PubMed/18838385", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18838554", "url": "https://glygen.org/publication/PubMed/18838554", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18931031", "url": "https://glygen.org/publication/PubMed/18931031", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19039330", "url": "https://glygen.org/publication/PubMed/19039330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19055752", "url": "https://glygen.org/publication/PubMed/19055752", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19074832", "url": "https://glygen.org/publication/PubMed/19074832", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19099901", "url": "https://glygen.org/publication/PubMed/19099901", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19153210", "url": "https://glygen.org/publication/PubMed/19153210", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19158829", "url": "https://glygen.org/publication/PubMed/19158829", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19166270", "url": "https://glygen.org/publication/PubMed/19166270", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19166512", "url": "https://glygen.org/publication/PubMed/19166512", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19166928", "url": "https://glygen.org/publication/PubMed/19166928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19209957", "url": "https://glygen.org/publication/PubMed/19209957", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19211028", "url": "https://glygen.org/publication/PubMed/19211028", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19233842", "url": "https://glygen.org/publication/PubMed/19233842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19238332", "url": "https://glygen.org/publication/PubMed/19238332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19255520", "url": "https://glygen.org/publication/PubMed/19255520", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19262695", "url": "https://glygen.org/publication/PubMed/19262695", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19293927", "url": "https://glygen.org/publication/PubMed/19293927", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19307602", "url": "https://glygen.org/publication/PubMed/19307602", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19320971", "url": "https://glygen.org/publication/PubMed/19320971", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19349584", "url": "https://glygen.org/publication/PubMed/19349584", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19372546", "url": "https://glygen.org/publication/PubMed/19372546", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19402821", "url": "https://glygen.org/publication/PubMed/19402821", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19422047", "url": "https://glygen.org/publication/PubMed/19422047", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19446470", "url": "https://glygen.org/publication/PubMed/19446470", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19465931", "url": "https://glygen.org/publication/PubMed/19465931", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19472218", "url": "https://glygen.org/publication/PubMed/19472218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19574502", "url": "https://glygen.org/publication/PubMed/19574502", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19633130", "url": "https://glygen.org/publication/PubMed/19633130", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19636556", "url": "https://glygen.org/publication/PubMed/19636556", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19644030", "url": "https://glygen.org/publication/PubMed/19644030", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19661305", "url": "https://glygen.org/publication/PubMed/19661305", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19672739", "url": "https://glygen.org/publication/PubMed/19672739", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19675138", "url": "https://glygen.org/publication/PubMed/19675138", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19703998", "url": "https://glygen.org/publication/PubMed/19703998", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19726058", "url": "https://glygen.org/publication/PubMed/19726058", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19779850", "url": "https://glygen.org/publication/PubMed/19779850", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19823931", "url": "https://glygen.org/publication/PubMed/19823931", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19855434", "url": "https://glygen.org/publication/PubMed/19855434", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19892919", "url": "https://glygen.org/publication/PubMed/19892919", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19902931", "url": "https://glygen.org/publication/PubMed/19902931", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19954970", "url": "https://glygen.org/publication/PubMed/19954970", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19996208", "url": "https://glygen.org/publication/PubMed/19996208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20026151", "url": "https://glygen.org/publication/PubMed/20026151", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20039275", "url": "https://glygen.org/publication/PubMed/20039275", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20046837", "url": "https://glygen.org/publication/PubMed/20046837", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20051961", "url": "https://glygen.org/publication/PubMed/20051961", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20054000", "url": "https://glygen.org/publication/PubMed/20054000", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20054340", "url": "https://glygen.org/publication/PubMed/20054340", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20081374", "url": "https://glygen.org/publication/PubMed/20081374", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20106927", "url": "https://glygen.org/publication/PubMed/20106927", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20150288", "url": "https://glygen.org/publication/PubMed/20150288", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20153512", "url": "https://glygen.org/publication/PubMed/20153512", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20163786", "url": "https://glygen.org/publication/PubMed/20163786", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20169162", "url": "https://glygen.org/publication/PubMed/20169162", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20183800", "url": "https://glygen.org/publication/PubMed/20183800", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20186153", "url": "https://glygen.org/publication/PubMed/20186153", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20205745", "url": "https://glygen.org/publication/PubMed/20205745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20332342", "url": "https://glygen.org/publication/PubMed/20332342", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20333467", "url": "https://glygen.org/publication/PubMed/20333467", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20334367", "url": "https://glygen.org/publication/PubMed/20334367", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20375905", "url": "https://glygen.org/publication/PubMed/20375905", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20383279", "url": "https://glygen.org/publication/PubMed/20383279", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20385969", "url": "https://glygen.org/publication/PubMed/20385969", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20400975", "url": "https://glygen.org/publication/PubMed/20400975", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20421190", "url": "https://glygen.org/publication/PubMed/20421190", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20454577", "url": "https://glygen.org/publication/PubMed/20454577", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20463894", "url": "https://glygen.org/publication/PubMed/20463894", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20489726", "url": "https://glygen.org/publication/PubMed/20489726", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20494139", "url": "https://glygen.org/publication/PubMed/20494139", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20517722", "url": "https://glygen.org/publication/PubMed/20517722", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20520724", "url": "https://glygen.org/publication/PubMed/20520724", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20532215", "url": "https://glygen.org/publication/PubMed/20532215", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20540782", "url": "https://glygen.org/publication/PubMed/20540782", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20543991", "url": "https://glygen.org/publication/PubMed/20543991", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20585660", "url": "https://glygen.org/publication/PubMed/20585660", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20643654", "url": "https://glygen.org/publication/PubMed/20643654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20686178", "url": "https://glygen.org/publication/PubMed/20686178", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20691662", "url": "https://glygen.org/publication/PubMed/20691662", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20836557", "url": "https://glygen.org/publication/PubMed/20836557", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20850432", "url": "https://glygen.org/publication/PubMed/20850432", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20860815", "url": "https://glygen.org/publication/PubMed/20860815", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20863384", "url": "https://glygen.org/publication/PubMed/20863384", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20938636", "url": "https://glygen.org/publication/PubMed/20938636", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20950443", "url": "https://glygen.org/publication/PubMed/20950443", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20952497", "url": "https://glygen.org/publication/PubMed/20952497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20975834", "url": "https://glygen.org/publication/PubMed/20975834", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20980511", "url": "https://glygen.org/publication/PubMed/20980511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21078168", "url": "https://glygen.org/publication/PubMed/21078168", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21097843", "url": "https://glygen.org/publication/PubMed/21097843", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21110076", "url": "https://glygen.org/publication/PubMed/21110076", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21131356", "url": "https://glygen.org/publication/PubMed/21131356", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21152033", "url": "https://glygen.org/publication/PubMed/21152033", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21183727", "url": "https://glygen.org/publication/PubMed/21183727", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21209911", "url": "https://glygen.org/publication/PubMed/21209911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21278786", "url": "https://glygen.org/publication/PubMed/21278786", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21295499", "url": "https://glygen.org/publication/PubMed/21295499", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21300751", "url": "https://glygen.org/publication/PubMed/21300751", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21321187", "url": "https://glygen.org/publication/PubMed/21321187", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21325624", "url": "https://glygen.org/publication/PubMed/21325624", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21364639", "url": "https://glygen.org/publication/PubMed/21364639", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21402788", "url": "https://glygen.org/publication/PubMed/21402788", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21415306", "url": "https://glygen.org/publication/PubMed/21415306", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21445305", "url": "https://glygen.org/publication/PubMed/21445305", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21483870", "url": "https://glygen.org/publication/PubMed/21483870", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21490677", "url": "https://glygen.org/publication/PubMed/21490677", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21496273", "url": "https://glygen.org/publication/PubMed/21496273", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21505451", "url": "https://glygen.org/publication/PubMed/21505451", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21514425", "url": "https://glygen.org/publication/PubMed/21514425", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21518140", "url": "https://glygen.org/publication/PubMed/21518140", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21559284", "url": "https://glygen.org/publication/PubMed/21559284", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21559502", "url": "https://glygen.org/publication/PubMed/21559502", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21565140", "url": "https://glygen.org/publication/PubMed/21565140", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21592956", "url": "https://glygen.org/publication/PubMed/21592956", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21600875", "url": "https://glygen.org/publication/PubMed/21600875", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21625639", "url": "https://glygen.org/publication/PubMed/21625639", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21660042", "url": "https://glygen.org/publication/PubMed/21660042", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21666717", "url": "https://glygen.org/publication/PubMed/21666717", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21668414", "url": "https://glygen.org/publication/PubMed/21668414", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21687633", "url": "https://glygen.org/publication/PubMed/21687633", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21698202", "url": "https://glygen.org/publication/PubMed/21698202", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21705677", "url": "https://glygen.org/publication/PubMed/21705677", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21724622", "url": "https://glygen.org/publication/PubMed/21724622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21732756", "url": "https://glygen.org/publication/PubMed/21732756", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21763075", "url": "https://glygen.org/publication/PubMed/21763075", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21767636", "url": "https://glygen.org/publication/PubMed/21767636", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21804606", "url": "https://glygen.org/publication/PubMed/21804606", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21818627", "url": "https://glygen.org/publication/PubMed/21818627", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21867682", "url": "https://glygen.org/publication/PubMed/21867682", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21879332", "url": "https://glygen.org/publication/PubMed/21879332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21901254", "url": "https://glygen.org/publication/PubMed/21901254", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21908613", "url": "https://glygen.org/publication/PubMed/21908613", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21956113", "url": "https://glygen.org/publication/PubMed/21956113", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22012613", "url": "https://glygen.org/publication/PubMed/22012613", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22029423", "url": "https://glygen.org/publication/PubMed/22029423", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22031698", "url": "https://glygen.org/publication/PubMed/22031698", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22039466", "url": "https://glygen.org/publication/PubMed/22039466", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22107784", "url": "https://glygen.org/publication/PubMed/22107784", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22110663", "url": "https://glygen.org/publication/PubMed/22110663", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22139837", "url": "https://glygen.org/publication/PubMed/22139837", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22140653", "url": "https://glygen.org/publication/PubMed/22140653", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22173970", "url": "https://glygen.org/publication/PubMed/22173970", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22184110", "url": "https://glygen.org/publication/PubMed/22184110", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22207758", "url": "https://glygen.org/publication/PubMed/22207758", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22245935", "url": "https://glygen.org/publication/PubMed/22245935", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22248929", "url": "https://glygen.org/publication/PubMed/22248929", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22305748", "url": "https://glygen.org/publication/PubMed/22305748", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22322917", "url": "https://glygen.org/publication/PubMed/22322917", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22335604", "url": "https://glygen.org/publication/PubMed/22335604", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22337773", "url": "https://glygen.org/publication/PubMed/22337773", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22347457", "url": "https://glygen.org/publication/PubMed/22347457", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22363598", "url": "https://glygen.org/publication/PubMed/22363598", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22379109", "url": "https://glygen.org/publication/PubMed/22379109", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22403297", "url": "https://glygen.org/publication/PubMed/22403297", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22415553", "url": "https://glygen.org/publication/PubMed/22415553", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22422409", "url": "https://glygen.org/publication/PubMed/22422409", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22460505", "url": "https://glygen.org/publication/PubMed/22460505", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22473959", "url": "https://glygen.org/publication/PubMed/22473959", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22487004", "url": "https://glygen.org/publication/PubMed/22487004", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22509246", "url": "https://glygen.org/publication/PubMed/22509246", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22510297", "url": "https://glygen.org/publication/PubMed/22510297", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22511762", "url": "https://glygen.org/publication/PubMed/22511762", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22529978", "url": "https://glygen.org/publication/PubMed/22529978", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22567414", "url": "https://glygen.org/publication/PubMed/22567414", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22569334", "url": "https://glygen.org/publication/PubMed/22569334", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22685542", "url": "https://glygen.org/publication/PubMed/22685542", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22690138", "url": "https://glygen.org/publication/PubMed/22690138", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22699894", "url": "https://glygen.org/publication/PubMed/22699894", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22730174", "url": "https://glygen.org/publication/PubMed/22730174", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22739265", "url": "https://glygen.org/publication/PubMed/22739265", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22771387", "url": "https://glygen.org/publication/PubMed/22771387", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22785470", "url": "https://glygen.org/publication/PubMed/22785470", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22787432", "url": "https://glygen.org/publication/PubMed/22787432", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22809628", "url": "https://glygen.org/publication/PubMed/22809628", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22830422", "url": "https://glygen.org/publication/PubMed/22830422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22839755", "url": "https://glygen.org/publication/PubMed/22839755", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22864984", "url": "https://glygen.org/publication/PubMed/22864984", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22871047", "url": "https://glygen.org/publication/PubMed/22871047", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22880048", "url": "https://glygen.org/publication/PubMed/22880048", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22902327", "url": "https://glygen.org/publication/PubMed/22902327", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22905719", "url": "https://glygen.org/publication/PubMed/22905719", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22909302", "url": "https://glygen.org/publication/PubMed/22909302", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22912850", "url": "https://glygen.org/publication/PubMed/22912850", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22927331", "url": "https://glygen.org/publication/PubMed/22927331", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22957045", "url": "https://glygen.org/publication/PubMed/22957045", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22975683", "url": "https://glygen.org/publication/PubMed/22975683", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23030823", "url": "https://glygen.org/publication/PubMed/23030823", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23045700", "url": "https://glygen.org/publication/PubMed/23045700", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23049696", "url": "https://glygen.org/publication/PubMed/23049696", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23061721", "url": "https://glygen.org/publication/PubMed/23061721", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23071583", "url": "https://glygen.org/publication/PubMed/23071583", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23077590", "url": "https://glygen.org/publication/PubMed/23077590", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23085420", "url": "https://glygen.org/publication/PubMed/23085420", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23100325", "url": "https://glygen.org/publication/PubMed/23100325", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23119004", "url": "https://glygen.org/publication/PubMed/23119004", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23127854", "url": "https://glygen.org/publication/PubMed/23127854", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23151908", "url": "https://glygen.org/publication/PubMed/23151908", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23155381", "url": "https://glygen.org/publication/PubMed/23155381", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23161797", "url": "https://glygen.org/publication/PubMed/23161797", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23167739", "url": "https://glygen.org/publication/PubMed/23167739", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23182460", "url": "https://glygen.org/publication/PubMed/23182460", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23183047", "url": "https://glygen.org/publication/PubMed/23183047", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23192081", "url": "https://glygen.org/publication/PubMed/23192081", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23237847", "url": "https://glygen.org/publication/PubMed/23237847", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23243000", "url": "https://glygen.org/publication/PubMed/23243000", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23263555", "url": "https://glygen.org/publication/PubMed/23263555", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23272152", "url": "https://glygen.org/publication/PubMed/23272152", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23274898", "url": "https://glygen.org/publication/PubMed/23274898", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23285096", "url": "https://glygen.org/publication/PubMed/23285096", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23285163", "url": "https://glygen.org/publication/PubMed/23285163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23299550", "url": "https://glygen.org/publication/PubMed/23299550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23300339", "url": "https://glygen.org/publication/PubMed/23300339", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23303682", "url": "https://glygen.org/publication/PubMed/23303682", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23349989", "url": "https://glygen.org/publication/PubMed/23349989", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23383252", "url": "https://glygen.org/publication/PubMed/23383252", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23396361", "url": "https://glygen.org/publication/PubMed/23396361", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23402310", "url": "https://glygen.org/publication/PubMed/23402310", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23415012", "url": "https://glygen.org/publication/PubMed/23415012", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23419269", "url": "https://glygen.org/publication/PubMed/23419269", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23426255", "url": "https://glygen.org/publication/PubMed/23426255", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23427269", "url": "https://glygen.org/publication/PubMed/23427269", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23436801", "url": "https://glygen.org/publication/PubMed/23436801", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23437362", "url": "https://glygen.org/publication/PubMed/23437362", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23448424", "url": "https://glygen.org/publication/PubMed/23448424", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23466053", "url": "https://glygen.org/publication/PubMed/23466053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23469007", "url": "https://glygen.org/publication/PubMed/23469007", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23497867", "url": "https://glygen.org/publication/PubMed/23497867", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23506355", "url": "https://glygen.org/publication/PubMed/23506355", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23529222", "url": "https://glygen.org/publication/PubMed/23529222", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23570421", "url": "https://glygen.org/publication/PubMed/23570421", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23580233", "url": "https://glygen.org/publication/PubMed/23580233", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23596569", "url": "https://glygen.org/publication/PubMed/23596569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23613850", "url": "https://glygen.org/publication/PubMed/23613850", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23623968", "url": "https://glygen.org/publication/PubMed/23623968", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23650507", "url": "https://glygen.org/publication/PubMed/23650507", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23668972", "url": "https://glygen.org/publication/PubMed/23668972", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23680186", "url": "https://glygen.org/publication/PubMed/23680186", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23681745", "url": "https://glygen.org/publication/PubMed/23681745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23684622", "url": "https://glygen.org/publication/PubMed/23684622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23696823", "url": "https://glygen.org/publication/PubMed/23696823", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23705826", "url": "https://glygen.org/publication/PubMed/23705826", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23727661", "url": "https://glygen.org/publication/PubMed/23727661", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23748344", "url": "https://glygen.org/publication/PubMed/23748344", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23773626", "url": "https://glygen.org/publication/PubMed/23773626", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23799035", "url": "https://glygen.org/publication/PubMed/23799035", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23802099", "url": "https://glygen.org/publication/PubMed/23802099", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23832089", "url": "https://glygen.org/publication/PubMed/23832089", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23840605", "url": "https://glygen.org/publication/PubMed/23840605", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23844554", "url": "https://glygen.org/publication/PubMed/23844554", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23849428", "url": "https://glygen.org/publication/PubMed/23849428", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23872419", "url": "https://glygen.org/publication/PubMed/23872419", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23912456", "url": "https://glygen.org/publication/PubMed/23912456", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23922669", "url": "https://glygen.org/publication/PubMed/23922669", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23928696", "url": "https://glygen.org/publication/PubMed/23928696", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23933705", "url": "https://glygen.org/publication/PubMed/23933705", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23951353", "url": "https://glygen.org/publication/PubMed/23951353", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23953418", "url": "https://glygen.org/publication/PubMed/23953418", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23958999", "url": "https://glygen.org/publication/PubMed/23958999", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23976954", "url": "https://glygen.org/publication/PubMed/23976954", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23979601", "url": "https://glygen.org/publication/PubMed/23979601", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23979838", "url": "https://glygen.org/publication/PubMed/23979838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23989949", "url": "https://glygen.org/publication/PubMed/23989949", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24006489", "url": "https://glygen.org/publication/PubMed/24006489", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24018125", "url": "https://glygen.org/publication/PubMed/24018125", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24018901", "url": "https://glygen.org/publication/PubMed/24018901", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24023012", "url": "https://glygen.org/publication/PubMed/24023012", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24023938", "url": "https://glygen.org/publication/PubMed/24023938", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24053672", "url": "https://glygen.org/publication/PubMed/24053672", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24057571", "url": "https://glygen.org/publication/PubMed/24057571", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24073922", "url": "https://glygen.org/publication/PubMed/24073922", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24091816", "url": "https://glygen.org/publication/PubMed/24091816", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24107614", "url": "https://glygen.org/publication/PubMed/24107614", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24113173", "url": "https://glygen.org/publication/PubMed/24113173", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24117074", "url": "https://glygen.org/publication/PubMed/24117074", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24169049", "url": "https://glygen.org/publication/PubMed/24169049", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24175297", "url": "https://glygen.org/publication/PubMed/24175297", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24176845", "url": "https://glygen.org/publication/PubMed/24176845", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24188406", "url": "https://glygen.org/publication/PubMed/24188406", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24217713", "url": "https://glygen.org/publication/PubMed/24217713", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24232099", "url": "https://glygen.org/publication/PubMed/24232099", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24236150", "url": "https://glygen.org/publication/PubMed/24236150", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24247980", "url": "https://glygen.org/publication/PubMed/24247980", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24260384", "url": "https://glygen.org/publication/PubMed/24260384", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24273605", "url": "https://glygen.org/publication/PubMed/24273605", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24280348", "url": "https://glygen.org/publication/PubMed/24280348", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24312263", "url": "https://glygen.org/publication/PubMed/24312263", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24317467", "url": "https://glygen.org/publication/PubMed/24317467", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24325618", "url": "https://glygen.org/publication/PubMed/24325618", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24349321", "url": "https://glygen.org/publication/PubMed/24349321", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24358196", "url": "https://glygen.org/publication/PubMed/24358196", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24365180", "url": "https://glygen.org/publication/PubMed/24365180", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24372645", "url": "https://glygen.org/publication/PubMed/24372645", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24374242", "url": "https://glygen.org/publication/PubMed/24374242", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24377058", "url": "https://glygen.org/publication/PubMed/24377058", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24392034", "url": "https://glygen.org/publication/PubMed/24392034", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24413065", "url": "https://glygen.org/publication/PubMed/24413065", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24416349", "url": "https://glygen.org/publication/PubMed/24416349", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24418989", "url": "https://glygen.org/publication/PubMed/24418989", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24428908", "url": "https://glygen.org/publication/PubMed/24428908", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24446434", "url": "https://glygen.org/publication/PubMed/24446434", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24448490", "url": "https://glygen.org/publication/PubMed/24448490", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24454800", "url": "https://glygen.org/publication/PubMed/24454800", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24456610", "url": "https://glygen.org/publication/PubMed/24456610", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24467442", "url": "https://glygen.org/publication/PubMed/24467442", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24516643", "url": "https://glygen.org/publication/PubMed/24516643", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24558442", "url": "https://glygen.org/publication/PubMed/24558442", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24561239", "url": "https://glygen.org/publication/PubMed/24561239", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24581231", "url": "https://glygen.org/publication/PubMed/24581231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24585214", "url": "https://glygen.org/publication/PubMed/24585214", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24611062", "url": "https://glygen.org/publication/PubMed/24611062", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24615340", "url": "https://glygen.org/publication/PubMed/24615340", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24618420", "url": "https://glygen.org/publication/PubMed/24618420", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24622734", "url": "https://glygen.org/publication/PubMed/24622734", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24625973", "url": "https://glygen.org/publication/PubMed/24625973", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24654606", "url": "https://glygen.org/publication/PubMed/24654606", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24666281", "url": "https://glygen.org/publication/PubMed/24666281", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24670043", "url": "https://glygen.org/publication/PubMed/24670043", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24705275", "url": "https://glygen.org/publication/PubMed/24705275", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24797432", "url": "https://glygen.org/publication/PubMed/24797432", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24797434", "url": "https://glygen.org/publication/PubMed/24797434", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24816687", "url": "https://glygen.org/publication/PubMed/24816687", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24900620", "url": "https://glygen.org/publication/PubMed/24900620", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24927123", "url": "https://glygen.org/publication/PubMed/24927123", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24933731", "url": "https://glygen.org/publication/PubMed/24933731", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24952732", "url": "https://glygen.org/publication/PubMed/24952732", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24979261", "url": "https://glygen.org/publication/PubMed/24979261", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24992302", "url": "https://glygen.org/publication/PubMed/24992302", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25026292", "url": "https://glygen.org/publication/PubMed/25026292", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25028121", "url": "https://glygen.org/publication/PubMed/25028121", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25098276", "url": "https://glygen.org/publication/PubMed/25098276", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25136826", "url": "https://glygen.org/publication/PubMed/25136826", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25153728", "url": "https://glygen.org/publication/PubMed/25153728", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25177796", "url": "https://glygen.org/publication/PubMed/25177796", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25196260", "url": "https://glygen.org/publication/PubMed/25196260", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25212826", "url": "https://glygen.org/publication/PubMed/25212826", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25228590", "url": "https://glygen.org/publication/PubMed/25228590", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25231727", "url": "https://glygen.org/publication/PubMed/25231727", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25243186", "url": "https://glygen.org/publication/PubMed/25243186", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25247416", "url": "https://glygen.org/publication/PubMed/25247416", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25273559", "url": "https://glygen.org/publication/PubMed/25273559", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25296502", "url": "https://glygen.org/publication/PubMed/25296502", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25306901", "url": "https://glygen.org/publication/PubMed/25306901", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25311506", "url": "https://glygen.org/publication/PubMed/25311506", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25313141", "url": "https://glygen.org/publication/PubMed/25313141", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25352995", "url": "https://glygen.org/publication/PubMed/25352995", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25355053", "url": "https://glygen.org/publication/PubMed/25355053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25375133", "url": "https://glygen.org/publication/PubMed/25375133", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25385184", "url": "https://glygen.org/publication/PubMed/25385184", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25388642", "url": "https://glygen.org/publication/PubMed/25388642", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25392303", "url": "https://glygen.org/publication/PubMed/25392303", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25424429", "url": "https://glygen.org/publication/PubMed/25424429", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25424831", "url": "https://glygen.org/publication/PubMed/25424831", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25432075", "url": "https://glygen.org/publication/PubMed/25432075", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25454348", "url": "https://glygen.org/publication/PubMed/25454348", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25483727", "url": "https://glygen.org/publication/PubMed/25483727", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25528216", "url": "https://glygen.org/publication/PubMed/25528216", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25531880", "url": "https://glygen.org/publication/PubMed/25531880", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25551293", "url": "https://glygen.org/publication/PubMed/25551293", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25564612", "url": "https://glygen.org/publication/PubMed/25564612", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25569101", "url": "https://glygen.org/publication/PubMed/25569101", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25569743", "url": "https://glygen.org/publication/PubMed/25569743", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25575302", "url": "https://glygen.org/publication/PubMed/25575302", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25592318", "url": "https://glygen.org/publication/PubMed/25592318", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25596739", "url": "https://glygen.org/publication/PubMed/25596739", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25611382", "url": "https://glygen.org/publication/PubMed/25611382", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25622969", "url": "https://glygen.org/publication/PubMed/25622969", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25624750", "url": "https://glygen.org/publication/PubMed/25624750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25639875", "url": "https://glygen.org/publication/PubMed/25639875", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25640278", "url": "https://glygen.org/publication/PubMed/25640278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25654224", "url": "https://glygen.org/publication/PubMed/25654224", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25688212", "url": "https://glygen.org/publication/PubMed/25688212", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25714596", "url": "https://glygen.org/publication/PubMed/25714596", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25722288", "url": "https://glygen.org/publication/PubMed/25722288", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25749514", "url": "https://glygen.org/publication/PubMed/25749514", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25761241", "url": "https://glygen.org/publication/PubMed/25761241", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25767601", "url": "https://glygen.org/publication/PubMed/25767601", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25784113", "url": "https://glygen.org/publication/PubMed/25784113", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25792811", "url": "https://glygen.org/publication/PubMed/25792811", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25793983", "url": "https://glygen.org/publication/PubMed/25793983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25838434", "url": "https://glygen.org/publication/PubMed/25838434", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25849580", "url": "https://glygen.org/publication/PubMed/25849580", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25858425", "url": "https://glygen.org/publication/PubMed/25858425", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25876175", "url": "https://glygen.org/publication/PubMed/25876175", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25880247", "url": "https://glygen.org/publication/PubMed/25880247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25889839", "url": "https://glygen.org/publication/PubMed/25889839", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25915946", "url": "https://glygen.org/publication/PubMed/25915946", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25925728", "url": "https://glygen.org/publication/PubMed/25925728", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25961827", "url": "https://glygen.org/publication/PubMed/25961827", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25965345", "url": "https://glygen.org/publication/PubMed/25965345", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25965823", "url": "https://glygen.org/publication/PubMed/25965823", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25970784", "url": "https://glygen.org/publication/PubMed/25970784", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25974307", "url": "https://glygen.org/publication/PubMed/25974307", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25980493", "url": "https://glygen.org/publication/PubMed/25980493", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25997832", "url": "https://glygen.org/publication/PubMed/25997832", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25999352", "url": "https://glygen.org/publication/PubMed/25999352", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26023089", "url": "https://glygen.org/publication/PubMed/26023089", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26025205", "url": "https://glygen.org/publication/PubMed/26025205", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26033966", "url": "https://glygen.org/publication/PubMed/26033966", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26046303", "url": "https://glygen.org/publication/PubMed/26046303", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26065894", "url": "https://glygen.org/publication/PubMed/26065894", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26073086", "url": "https://glygen.org/publication/PubMed/26073086", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26076587", "url": "https://glygen.org/publication/PubMed/26076587", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26110849", "url": "https://glygen.org/publication/PubMed/26110849", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26111001", "url": "https://glygen.org/publication/PubMed/26111001", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26121251", "url": "https://glygen.org/publication/PubMed/26121251", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26124182", "url": "https://glygen.org/publication/PubMed/26124182", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26130968", "url": "https://glygen.org/publication/PubMed/26130968", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26137449", "url": "https://glygen.org/publication/PubMed/26137449", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26137586", "url": "https://glygen.org/publication/PubMed/26137586", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26178819", "url": "https://glygen.org/publication/PubMed/26178819", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26201515", "url": "https://glygen.org/publication/PubMed/26201515", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26204252", "url": "https://glygen.org/publication/PubMed/26204252", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26235620", "url": "https://glygen.org/publication/PubMed/26235620", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26241708", "url": "https://glygen.org/publication/PubMed/26241708", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26243309", "url": "https://glygen.org/publication/PubMed/26243309", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26244501", "url": "https://glygen.org/publication/PubMed/26244501", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26245346", "url": "https://glygen.org/publication/PubMed/26245346", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26247730", "url": "https://glygen.org/publication/PubMed/26247730", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26290457", "url": "https://glygen.org/publication/PubMed/26290457", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26313911", "url": "https://glygen.org/publication/PubMed/26313911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26317547", "url": "https://glygen.org/publication/PubMed/26317547", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26345496", "url": "https://glygen.org/publication/PubMed/26345496", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26356562", "url": "https://glygen.org/publication/PubMed/26356562", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26378810", "url": "https://glygen.org/publication/PubMed/26378810", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26402468", "url": "https://glygen.org/publication/PubMed/26402468", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26408176", "url": "https://glygen.org/publication/PubMed/26408176", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26415504", "url": "https://glygen.org/publication/PubMed/26415504", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26437242", "url": "https://glygen.org/publication/PubMed/26437242", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26440416", "url": "https://glygen.org/publication/PubMed/26440416", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26465359", "url": "https://glygen.org/publication/PubMed/26465359", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26485768", "url": "https://glygen.org/publication/PubMed/26485768", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26497682", "url": "https://glygen.org/publication/PubMed/26497682", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26506516", "url": "https://glygen.org/publication/PubMed/26506516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26514724", "url": "https://glygen.org/publication/PubMed/26514724", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26517508", "url": "https://glygen.org/publication/PubMed/26517508", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26517515", "url": "https://glygen.org/publication/PubMed/26517515", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26528819", "url": "https://glygen.org/publication/PubMed/26528819", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26535060", "url": "https://glygen.org/publication/PubMed/26535060", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26551880", "url": "https://glygen.org/publication/PubMed/26551880", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26557719", "url": "https://glygen.org/publication/PubMed/26557719", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26600389", "url": "https://glygen.org/publication/PubMed/26600389", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26607178", "url": "https://glygen.org/publication/PubMed/26607178", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26613407", "url": "https://glygen.org/publication/PubMed/26613407", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26646023", "url": "https://glygen.org/publication/PubMed/26646023", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26657992", "url": "https://glygen.org/publication/PubMed/26657992", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26682007", "url": "https://glygen.org/publication/PubMed/26682007", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26711788", "url": "https://glygen.org/publication/PubMed/26711788", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26741489", "url": "https://glygen.org/publication/PubMed/26741489", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26746999", "url": "https://glygen.org/publication/PubMed/26746999", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26751215", "url": "https://glygen.org/publication/PubMed/26751215", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26801686", "url": "https://glygen.org/publication/PubMed/26801686", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26821351", "url": "https://glygen.org/publication/PubMed/26821351", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26824321", "url": "https://glygen.org/publication/PubMed/26824321", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26832662", "url": "https://glygen.org/publication/PubMed/26832662", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26846144", "url": "https://glygen.org/publication/PubMed/26846144", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26848620", "url": "https://glygen.org/publication/PubMed/26848620", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26852666", "url": "https://glygen.org/publication/PubMed/26852666", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26891914", "url": "https://glygen.org/publication/PubMed/26891914", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26903300", "url": "https://glygen.org/publication/PubMed/26903300", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26910892", "url": "https://glygen.org/publication/PubMed/26910892", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26913805", "url": "https://glygen.org/publication/PubMed/26913805", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26919095", "url": "https://glygen.org/publication/PubMed/26919095", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26919103", "url": "https://glygen.org/publication/PubMed/26919103", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26934000", "url": "https://glygen.org/publication/PubMed/26934000", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26934444", "url": "https://glygen.org/publication/PubMed/26934444", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26940018", "url": "https://glygen.org/publication/PubMed/26940018", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26942872", "url": "https://glygen.org/publication/PubMed/26942872", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26945062", "url": "https://glygen.org/publication/PubMed/26945062", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26959555", "url": "https://glygen.org/publication/PubMed/26959555", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26967055", "url": "https://glygen.org/publication/PubMed/26967055", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26974310", "url": "https://glygen.org/publication/PubMed/26974310", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26988603", "url": "https://glygen.org/publication/PubMed/26988603", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27004402", "url": "https://glygen.org/publication/PubMed/27004402", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27004406", "url": "https://glygen.org/publication/PubMed/27004406", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27009203", "url": "https://glygen.org/publication/PubMed/27009203", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27015152", "url": "https://glygen.org/publication/PubMed/27015152", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27026523", "url": "https://glygen.org/publication/PubMed/27026523", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27027448", "url": "https://glygen.org/publication/PubMed/27027448", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27047993", "url": "https://glygen.org/publication/PubMed/27047993", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27053161", "url": "https://glygen.org/publication/PubMed/27053161", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27074558", "url": "https://glygen.org/publication/PubMed/27074558", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27076174", "url": "https://glygen.org/publication/PubMed/27076174", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27099352", "url": "https://glygen.org/publication/PubMed/27099352", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27102434", "url": "https://glygen.org/publication/PubMed/27102434", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27102439", "url": "https://glygen.org/publication/PubMed/27102439", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27137757", "url": "https://glygen.org/publication/PubMed/27137757", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27147579", "url": "https://glygen.org/publication/PubMed/27147579", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27176505", "url": "https://glygen.org/publication/PubMed/27176505", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27187380", "url": "https://glygen.org/publication/PubMed/27187380", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27191994", "url": "https://glygen.org/publication/PubMed/27191994", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27192118", "url": "https://glygen.org/publication/PubMed/27192118", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27207509", "url": "https://glygen.org/publication/PubMed/27207509", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27211495", "url": "https://glygen.org/publication/PubMed/27211495", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27220846", "url": "https://glygen.org/publication/PubMed/27220846", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27239959", "url": "https://glygen.org/publication/PubMed/27239959", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27262235", "url": "https://glygen.org/publication/PubMed/27262235", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27285760", "url": "https://glygen.org/publication/PubMed/27285760", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27294151", "url": "https://glygen.org/publication/PubMed/27294151", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27323778", "url": "https://glygen.org/publication/PubMed/27323778", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27346647", "url": "https://glygen.org/publication/PubMed/27346647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27385099", "url": "https://glygen.org/publication/PubMed/27385099", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27385333", "url": "https://glygen.org/publication/PubMed/27385333", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27390173", "url": "https://glygen.org/publication/PubMed/27390173", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27391443", "url": "https://glygen.org/publication/PubMed/27391443", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27447863", "url": "https://glygen.org/publication/PubMed/27447863", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27451907", "url": "https://glygen.org/publication/PubMed/27451907", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27465688", "url": "https://glygen.org/publication/PubMed/27465688", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27494022", "url": "https://glygen.org/publication/PubMed/27494022", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27494886", "url": "https://glygen.org/publication/PubMed/27494886", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27494895", "url": "https://glygen.org/publication/PubMed/27494895", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27531894", "url": "https://glygen.org/publication/PubMed/27531894", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27561791", "url": "https://glygen.org/publication/PubMed/27561791", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27566939", "url": "https://glygen.org/publication/PubMed/27566939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27601656", "url": "https://glygen.org/publication/PubMed/27601656", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27611696", "url": "https://glygen.org/publication/PubMed/27611696", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27622707", "url": "https://glygen.org/publication/PubMed/27622707", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27624942", "url": "https://glygen.org/publication/PubMed/27624942", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27626683", "url": "https://glygen.org/publication/PubMed/27626683", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27627109", "url": "https://glygen.org/publication/PubMed/27627109", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27636107", "url": "https://glygen.org/publication/PubMed/27636107", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27649272", "url": "https://glygen.org/publication/PubMed/27649272", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27659528", "url": "https://glygen.org/publication/PubMed/27659528", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27694961", "url": "https://glygen.org/publication/PubMed/27694961", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27698667", "url": "https://glygen.org/publication/PubMed/27698667", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27763645", "url": "https://glygen.org/publication/PubMed/27763645", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27764189", "url": "https://glygen.org/publication/PubMed/27764189", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27769069", "url": "https://glygen.org/publication/PubMed/27769069", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27807598", "url": "https://glygen.org/publication/PubMed/27807598", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27811362", "url": "https://glygen.org/publication/PubMed/27811362", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27829222", "url": "https://glygen.org/publication/PubMed/27829222", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27894090", "url": "https://glygen.org/publication/PubMed/27894090", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27901111", "url": "https://glygen.org/publication/PubMed/27901111", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27903983", "url": "https://glygen.org/publication/PubMed/27903983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27903985", "url": "https://glygen.org/publication/PubMed/27903985", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27966531", "url": "https://glygen.org/publication/PubMed/27966531", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28003335", "url": "https://glygen.org/publication/PubMed/28003335", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28035062", "url": "https://glygen.org/publication/PubMed/28035062", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28035333", "url": "https://glygen.org/publication/PubMed/28035333", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28036265", "url": "https://glygen.org/publication/PubMed/28036265", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28061880", "url": "https://glygen.org/publication/PubMed/28061880", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28072855", "url": "https://glygen.org/publication/PubMed/28072855", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28107519", "url": "https://glygen.org/publication/PubMed/28107519", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28112176", "url": "https://glygen.org/publication/PubMed/28112176", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28129639", "url": "https://glygen.org/publication/PubMed/28129639", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28152500", "url": "https://glygen.org/publication/PubMed/28152500", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28179017", "url": "https://glygen.org/publication/PubMed/28179017", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28188308", "url": "https://glygen.org/publication/PubMed/28188308", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28209923", "url": "https://glygen.org/publication/PubMed/28209923", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28218907", "url": "https://glygen.org/publication/PubMed/28218907", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28231291", "url": "https://glygen.org/publication/PubMed/28231291", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28231796", "url": "https://glygen.org/publication/PubMed/28231796", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28232663", "url": "https://glygen.org/publication/PubMed/28232663", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28291820", "url": "https://glygen.org/publication/PubMed/28291820", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28320338", "url": "https://glygen.org/publication/PubMed/28320338", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28332309", "url": "https://glygen.org/publication/PubMed/28332309", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28332553", "url": "https://glygen.org/publication/PubMed/28332553", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28345638", "url": "https://glygen.org/publication/PubMed/28345638", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28349073", "url": "https://glygen.org/publication/PubMed/28349073", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28356941", "url": "https://glygen.org/publication/PubMed/28356941", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28359316", "url": "https://glygen.org/publication/PubMed/28359316", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28371849", "url": "https://glygen.org/publication/PubMed/28371849", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28380463", "url": "https://glygen.org/publication/PubMed/28380463", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28382169", "url": "https://glygen.org/publication/PubMed/28382169", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28398603", "url": "https://glygen.org/publication/PubMed/28398603", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28402933", "url": "https://glygen.org/publication/PubMed/28402933", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28406396", "url": "https://glygen.org/publication/PubMed/28406396", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28410531", "url": "https://glygen.org/publication/PubMed/28410531", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28427860", "url": "https://glygen.org/publication/PubMed/28427860", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28442995", "url": "https://glygen.org/publication/PubMed/28442995", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28445969", "url": "https://glygen.org/publication/PubMed/28445969", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28448438", "url": "https://glygen.org/publication/PubMed/28448438", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28464039", "url": "https://glygen.org/publication/PubMed/28464039", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28465354", "url": "https://glygen.org/publication/PubMed/28465354", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28468326", "url": "https://glygen.org/publication/PubMed/28468326", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28475127", "url": "https://glygen.org/publication/PubMed/28475127", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28484273", "url": "https://glygen.org/publication/PubMed/28484273", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28518144", "url": "https://glygen.org/publication/PubMed/28518144", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28525374", "url": "https://glygen.org/publication/PubMed/28525374", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28535647", "url": "https://glygen.org/publication/PubMed/28535647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28548645", "url": "https://glygen.org/publication/PubMed/28548645", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28588706", "url": "https://glygen.org/publication/PubMed/28588706", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28593136", "url": "https://glygen.org/publication/PubMed/28593136", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28632938", "url": "https://glygen.org/publication/PubMed/28632938", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28634229", "url": "https://glygen.org/publication/PubMed/28634229", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28659580", "url": "https://glygen.org/publication/PubMed/28659580", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28664914", "url": "https://glygen.org/publication/PubMed/28664914", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28673204", "url": "https://glygen.org/publication/PubMed/28673204", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28674187", "url": "https://glygen.org/publication/PubMed/28674187", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28675026", "url": "https://glygen.org/publication/PubMed/28675026", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28680159", "url": "https://glygen.org/publication/PubMed/28680159", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28691365", "url": "https://glygen.org/publication/PubMed/28691365", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28694518", "url": "https://glygen.org/publication/PubMed/28694518", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28698260", "url": "https://glygen.org/publication/PubMed/28698260", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28699701", "url": "https://glygen.org/publication/PubMed/28699701", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28700668", "url": "https://glygen.org/publication/PubMed/28700668", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28701722", "url": "https://glygen.org/publication/PubMed/28701722", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28701787", "url": "https://glygen.org/publication/PubMed/28701787", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28704499", "url": "https://glygen.org/publication/PubMed/28704499", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28729699", "url": "https://glygen.org/publication/PubMed/28729699", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28771224", "url": "https://glygen.org/publication/PubMed/28771224", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28790888", "url": "https://glygen.org/publication/PubMed/28790888", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28814745", "url": "https://glygen.org/publication/PubMed/28814745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28833338", "url": "https://glygen.org/publication/PubMed/28833338", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28881794", "url": "https://glygen.org/publication/PubMed/28881794", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28883547", "url": "https://glygen.org/publication/PubMed/28883547", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28915272", "url": "https://glygen.org/publication/PubMed/28915272", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28915595", "url": "https://glygen.org/publication/PubMed/28915595", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28916818", "url": "https://glygen.org/publication/PubMed/28916818", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28924391", "url": "https://glygen.org/publication/PubMed/28924391", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28934926", "url": "https://glygen.org/publication/PubMed/28934926", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28938574", "url": "https://glygen.org/publication/PubMed/28938574", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28960945", "url": "https://glygen.org/publication/PubMed/28960945", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28962326", "url": "https://glygen.org/publication/PubMed/28962326", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28978070", "url": "https://glygen.org/publication/PubMed/28978070", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28982149", "url": "https://glygen.org/publication/PubMed/28982149", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28982851", "url": "https://glygen.org/publication/PubMed/28982851", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28987868", "url": "https://glygen.org/publication/PubMed/28987868", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28991258", "url": "https://glygen.org/publication/PubMed/28991258", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29017516", "url": "https://glygen.org/publication/PubMed/29017516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29017592", "url": "https://glygen.org/publication/PubMed/29017592", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29039440", "url": "https://glygen.org/publication/PubMed/29039440", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29050229", "url": "https://glygen.org/publication/PubMed/29050229", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29078297", "url": "https://glygen.org/publication/PubMed/29078297", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29113312", "url": "https://glygen.org/publication/PubMed/29113312", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29134198", "url": "https://glygen.org/publication/PubMed/29134198", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29147235", "url": "https://glygen.org/publication/PubMed/29147235", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29150437", "url": "https://glygen.org/publication/PubMed/29150437", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29156676", "url": "https://glygen.org/publication/PubMed/29156676", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29156708", "url": "https://glygen.org/publication/PubMed/29156708", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29170452", "url": "https://glygen.org/publication/PubMed/29170452", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29172268", "url": "https://glygen.org/publication/PubMed/29172268", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29221176", "url": "https://glygen.org/publication/PubMed/29221176", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29254199", "url": "https://glygen.org/publication/PubMed/29254199", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29254208", "url": "https://glygen.org/publication/PubMed/29254208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29269867", "url": "https://glygen.org/publication/PubMed/29269867", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29285315", "url": "https://glygen.org/publication/PubMed/29285315", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29335246", "url": "https://glygen.org/publication/PubMed/29335246", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29355935", "url": "https://glygen.org/publication/PubMed/29355935", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29357370", "url": "https://glygen.org/publication/PubMed/29357370", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29361539", "url": "https://glygen.org/publication/PubMed/29361539", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29396506", "url": "https://glygen.org/publication/PubMed/29396506", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29423104", "url": "https://glygen.org/publication/PubMed/29423104", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29423932", "url": "https://glygen.org/publication/PubMed/29423932", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29426295", "url": "https://glygen.org/publication/PubMed/29426295", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29434218", "url": "https://glygen.org/publication/PubMed/29434218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29434840", "url": "https://glygen.org/publication/PubMed/29434840", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29435164", "url": "https://glygen.org/publication/PubMed/29435164", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29439494", "url": "https://glygen.org/publication/PubMed/29439494", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29440989", "url": "https://glygen.org/publication/PubMed/29440989", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29470540", "url": "https://glygen.org/publication/PubMed/29470540", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29476223", "url": "https://glygen.org/publication/PubMed/29476223", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29482651", "url": "https://glygen.org/publication/PubMed/29482651", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29484131", "url": "https://glygen.org/publication/PubMed/29484131", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29507656", "url": "https://glygen.org/publication/PubMed/29507656", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29507660", "url": "https://glygen.org/publication/PubMed/29507660", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29514603", "url": "https://glygen.org/publication/PubMed/29514603", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29523594", "url": "https://glygen.org/publication/PubMed/29523594", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29535821", "url": "https://glygen.org/publication/PubMed/29535821", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29549527", "url": "https://glygen.org/publication/PubMed/29549527", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29552308", "url": "https://glygen.org/publication/PubMed/29552308", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29560097", "url": "https://glygen.org/publication/PubMed/29560097", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29563926", "url": "https://glygen.org/publication/PubMed/29563926", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29581834", "url": "https://glygen.org/publication/PubMed/29581834", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29632185", "url": "https://glygen.org/publication/PubMed/29632185", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29652795", "url": "https://glygen.org/publication/PubMed/29652795", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29670523", "url": "https://glygen.org/publication/PubMed/29670523", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29674727", "url": "https://glygen.org/publication/PubMed/29674727", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29691342", "url": "https://glygen.org/publication/PubMed/29691342", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29728125", "url": "https://glygen.org/publication/PubMed/29728125", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29728594", "url": "https://glygen.org/publication/PubMed/29728594", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29737572", "url": "https://glygen.org/publication/PubMed/29737572", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29743977", "url": "https://glygen.org/publication/PubMed/29743977", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29749659", "url": "https://glygen.org/publication/PubMed/29749659", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29754406", "url": "https://glygen.org/publication/PubMed/29754406", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29786666", "url": "https://glygen.org/publication/PubMed/29786666", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29799846", "url": "https://glygen.org/publication/PubMed/29799846", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29805559", "url": "https://glygen.org/publication/PubMed/29805559", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29844385", "url": "https://glygen.org/publication/PubMed/29844385", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29872222", "url": "https://glygen.org/publication/PubMed/29872222", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29895328", "url": "https://glygen.org/publication/PubMed/29895328", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29899706", "url": "https://glygen.org/publication/PubMed/29899706", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29921293", "url": "https://glygen.org/publication/PubMed/29921293", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29930759", "url": "https://glygen.org/publication/PubMed/29930759", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29967343", "url": "https://glygen.org/publication/PubMed/29967343", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29970878", "url": "https://glygen.org/publication/PubMed/29970878", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29973512", "url": "https://glygen.org/publication/PubMed/29973512", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30015961", "url": "https://glygen.org/publication/PubMed/30015961", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30021163", "url": "https://glygen.org/publication/PubMed/30021163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30021848", "url": "https://glygen.org/publication/PubMed/30021848", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30038704", "url": "https://glygen.org/publication/PubMed/30038704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30038706", "url": "https://glygen.org/publication/PubMed/30038706", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30063851", "url": "https://glygen.org/publication/PubMed/30063851", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30098579", "url": "https://glygen.org/publication/PubMed/30098579", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30154548", "url": "https://glygen.org/publication/PubMed/30154548", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30181250", "url": "https://glygen.org/publication/PubMed/30181250", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30205513", "url": "https://glygen.org/publication/PubMed/30205513", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30230030", "url": "https://glygen.org/publication/PubMed/30230030", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30242159", "url": "https://glygen.org/publication/PubMed/30242159", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30245957", "url": "https://glygen.org/publication/PubMed/30245957", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30266989", "url": "https://glygen.org/publication/PubMed/30266989", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30337563", "url": "https://glygen.org/publication/PubMed/30337563", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30337688", "url": "https://glygen.org/publication/PubMed/30337688", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30355958", "url": "https://glygen.org/publication/PubMed/30355958", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30388826", "url": "https://glygen.org/publication/PubMed/30388826", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30405592", "url": "https://glygen.org/publication/PubMed/30405592", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30413706", "url": "https://glygen.org/publication/PubMed/30413706", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30413753", "url": "https://glygen.org/publication/PubMed/30413753", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30455992", "url": "https://glygen.org/publication/PubMed/30455992", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30461193", "url": "https://glygen.org/publication/PubMed/30461193", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30470263", "url": "https://glygen.org/publication/PubMed/30470263", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30488766", "url": "https://glygen.org/publication/PubMed/30488766", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30500680", "url": "https://glygen.org/publication/PubMed/30500680", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30510622", "url": "https://glygen.org/publication/PubMed/30510622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30563079", "url": "https://glygen.org/publication/PubMed/30563079", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30575721", "url": "https://glygen.org/publication/PubMed/30575721", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30602778", "url": "https://glygen.org/publication/PubMed/30602778", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30622543", "url": "https://glygen.org/publication/PubMed/30622543", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30622697", "url": "https://glygen.org/publication/PubMed/30622697", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30643008", "url": "https://glygen.org/publication/PubMed/30643008", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30654190", "url": "https://glygen.org/publication/PubMed/30654190", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30669455", "url": "https://glygen.org/publication/PubMed/30669455", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30683932", "url": "https://glygen.org/publication/PubMed/30683932", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30690883", "url": "https://glygen.org/publication/PubMed/30690883", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30692626", "url": "https://glygen.org/publication/PubMed/30692626", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30700111", "url": "https://glygen.org/publication/PubMed/30700111", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30709770", "url": "https://glygen.org/publication/PubMed/30709770", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30717410", "url": "https://glygen.org/publication/PubMed/30717410", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30721135", "url": "https://glygen.org/publication/PubMed/30721135", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30733438", "url": "https://glygen.org/publication/PubMed/30733438", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30737086", "url": "https://glygen.org/publication/PubMed/30737086", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30754629", "url": "https://glygen.org/publication/PubMed/30754629", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30755102", "url": "https://glygen.org/publication/PubMed/30755102", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30755508", "url": "https://glygen.org/publication/PubMed/30755508", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30774657", "url": "https://glygen.org/publication/PubMed/30774657", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30804434", "url": "https://glygen.org/publication/PubMed/30804434", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30813597", "url": "https://glygen.org/publication/PubMed/30813597", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30824683", "url": "https://glygen.org/publication/PubMed/30824683", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30850948", "url": "https://glygen.org/publication/PubMed/30850948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30854104", "url": "https://glygen.org/publication/PubMed/30854104", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30860936", "url": "https://glygen.org/publication/PubMed/30860936", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30872638", "url": "https://glygen.org/publication/PubMed/30872638", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30887599", "url": "https://glygen.org/publication/PubMed/30887599", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30902093", "url": "https://glygen.org/publication/PubMed/30902093", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30909453", "url": "https://glygen.org/publication/PubMed/30909453", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30944303", "url": "https://glygen.org/publication/PubMed/30944303", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30952838", "url": "https://glygen.org/publication/PubMed/30952838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30959964", "url": "https://glygen.org/publication/PubMed/30959964", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30968715", "url": "https://glygen.org/publication/PubMed/30968715", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30971932", "url": "https://glygen.org/publication/PubMed/30971932", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30979953", "url": "https://glygen.org/publication/PubMed/30979953", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30987128", "url": "https://glygen.org/publication/PubMed/30987128", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30987380", "url": "https://glygen.org/publication/PubMed/30987380", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31032363", "url": "https://glygen.org/publication/PubMed/31032363", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31033209", "url": "https://glygen.org/publication/PubMed/31033209", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31037139", "url": "https://glygen.org/publication/PubMed/31037139", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31053703", "url": "https://glygen.org/publication/PubMed/31053703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31065010", "url": "https://glygen.org/publication/PubMed/31065010", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31111215", "url": "https://glygen.org/publication/PubMed/31111215", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31122311", "url": "https://glygen.org/publication/PubMed/31122311", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31139021", "url": "https://glygen.org/publication/PubMed/31139021", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31157169", "url": "https://glygen.org/publication/PubMed/31157169", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31171914", "url": "https://glygen.org/publication/PubMed/31171914", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31183073", "url": "https://glygen.org/publication/PubMed/31183073", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31197106", "url": "https://glygen.org/publication/PubMed/31197106", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31199048", "url": "https://glygen.org/publication/PubMed/31199048", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31240133", "url": "https://glygen.org/publication/PubMed/31240133", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31243899", "url": "https://glygen.org/publication/PubMed/31243899", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31288897", "url": "https://glygen.org/publication/PubMed/31288897", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31290289", "url": "https://glygen.org/publication/PubMed/31290289", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31393061", "url": "https://glygen.org/publication/PubMed/31393061", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31409554", "url": "https://glygen.org/publication/PubMed/31409554", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31420605", "url": "https://glygen.org/publication/PubMed/31420605", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31431660", "url": "https://glygen.org/publication/PubMed/31431660", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31470874", "url": "https://glygen.org/publication/PubMed/31470874", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31482977", "url": "https://glygen.org/publication/PubMed/31482977", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31509054", "url": "https://glygen.org/publication/PubMed/31509054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31547231", "url": "https://glygen.org/publication/PubMed/31547231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31570426", "url": "https://glygen.org/publication/PubMed/31570426", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31571328", "url": "https://glygen.org/publication/PubMed/31571328", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31571914", "url": "https://glygen.org/publication/PubMed/31571914", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31592623", "url": "https://glygen.org/publication/PubMed/31592623", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31629677", "url": "https://glygen.org/publication/PubMed/31629677", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31658620", "url": "https://glygen.org/publication/PubMed/31658620", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31665911", "url": "https://glygen.org/publication/PubMed/31665911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31723205", "url": "https://glygen.org/publication/PubMed/31723205", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31725811", "url": "https://glygen.org/publication/PubMed/31725811", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31729456", "url": "https://glygen.org/publication/PubMed/31729456", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31740942", "url": "https://glygen.org/publication/PubMed/31740942", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31747880", "url": "https://glygen.org/publication/PubMed/31747880", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31795454", "url": "https://glygen.org/publication/PubMed/31795454", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31827405", "url": "https://glygen.org/publication/PubMed/31827405", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31835877", "url": "https://glygen.org/publication/PubMed/31835877", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31857650", "url": "https://glygen.org/publication/PubMed/31857650", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31889900", "url": "https://glygen.org/publication/PubMed/31889900", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31893310", "url": "https://glygen.org/publication/PubMed/31893310", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31897228", "url": "https://glygen.org/publication/PubMed/31897228", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31900384", "url": "https://glygen.org/publication/PubMed/31900384", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31922221", "url": "https://glygen.org/publication/PubMed/31922221", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31931846", "url": "https://glygen.org/publication/PubMed/31931846", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31941116", "url": "https://glygen.org/publication/PubMed/31941116", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31951594", "url": "https://glygen.org/publication/PubMed/31951594", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31957155", "url": "https://glygen.org/publication/PubMed/31957155", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31957179", "url": "https://glygen.org/publication/PubMed/31957179", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31957323", "url": "https://glygen.org/publication/PubMed/31957323", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31967294", "url": "https://glygen.org/publication/PubMed/31967294", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32021440", "url": "https://glygen.org/publication/PubMed/32021440", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32101017", "url": "https://glygen.org/publication/PubMed/32101017", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32116552", "url": "https://glygen.org/publication/PubMed/32116552", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32117763", "url": "https://glygen.org/publication/PubMed/32117763", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32152504", "url": "https://glygen.org/publication/PubMed/32152504", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32176823", "url": "https://glygen.org/publication/PubMed/32176823", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32274896", "url": "https://glygen.org/publication/PubMed/32274896", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32316166", "url": "https://glygen.org/publication/PubMed/32316166", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32321509", "url": "https://glygen.org/publication/PubMed/32321509", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32323830", "url": "https://glygen.org/publication/PubMed/32323830", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32332845", "url": "https://glygen.org/publication/PubMed/32332845", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32350708", "url": "https://glygen.org/publication/PubMed/32350708", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32371982", "url": "https://glygen.org/publication/PubMed/32371982", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32375544", "url": "https://glygen.org/publication/PubMed/32375544", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32421688", "url": "https://glygen.org/publication/PubMed/32421688", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32437392", "url": "https://glygen.org/publication/PubMed/32437392", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32439931", "url": "https://glygen.org/publication/PubMed/32439931", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32499871", "url": "https://glygen.org/publication/PubMed/32499871", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32516328", "url": "https://glygen.org/publication/PubMed/32516328", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32530390", "url": "https://glygen.org/publication/PubMed/32530390", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32555194", "url": "https://glygen.org/publication/PubMed/32555194", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32560319", "url": "https://glygen.org/publication/PubMed/32560319", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32579864", "url": "https://glygen.org/publication/PubMed/32579864", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32581820", "url": "https://glygen.org/publication/PubMed/32581820", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32600436", "url": "https://glygen.org/publication/PubMed/32600436", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32627020", "url": "https://glygen.org/publication/PubMed/32627020", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32661241", "url": "https://glygen.org/publication/PubMed/32661241", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32694512", "url": "https://glygen.org/publication/PubMed/32694512", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32705206", "url": "https://glygen.org/publication/PubMed/32705206", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32711558", "url": "https://glygen.org/publication/PubMed/32711558", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32733154", "url": "https://glygen.org/publication/PubMed/32733154", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32744507", "url": "https://glygen.org/publication/PubMed/32744507", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32753957", "url": "https://glygen.org/publication/PubMed/32753957", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32756405", "url": "https://glygen.org/publication/PubMed/32756405", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32758183", "url": "https://glygen.org/publication/PubMed/32758183", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32788653", "url": "https://glygen.org/publication/PubMed/32788653", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32811805", "url": "https://glygen.org/publication/PubMed/32811805", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32843616", "url": "https://glygen.org/publication/PubMed/32843616", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32850353", "url": "https://glygen.org/publication/PubMed/32850353", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32863234", "url": "https://glygen.org/publication/PubMed/32863234", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32877278", "url": "https://glygen.org/publication/PubMed/32877278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32913468", "url": "https://glygen.org/publication/PubMed/32913468", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32921413", "url": "https://glygen.org/publication/PubMed/32921413", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32923133", "url": "https://glygen.org/publication/PubMed/32923133", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32944401", "url": "https://glygen.org/publication/PubMed/32944401", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32977414", "url": "https://glygen.org/publication/PubMed/32977414", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33013390", "url": "https://glygen.org/publication/PubMed/33013390", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33037285", "url": "https://glygen.org/publication/PubMed/33037285", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33038921", "url": "https://glygen.org/publication/PubMed/33038921", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33054056", "url": "https://glygen.org/publication/PubMed/33054056", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33062024", "url": "https://glygen.org/publication/PubMed/33062024", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33103284", "url": "https://glygen.org/publication/PubMed/33103284", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33106477", "url": "https://glygen.org/publication/PubMed/33106477", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33117085", "url": "https://glygen.org/publication/PubMed/33117085", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33121495", "url": "https://glygen.org/publication/PubMed/33121495", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33138208", "url": "https://glygen.org/publication/PubMed/33138208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33149688", "url": "https://glygen.org/publication/PubMed/33149688", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33178023", "url": "https://glygen.org/publication/PubMed/33178023", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33180507", "url": "https://glygen.org/publication/PubMed/33180507", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33256016", "url": "https://glygen.org/publication/PubMed/33256016", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33282634", "url": "https://glygen.org/publication/PubMed/33282634", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33318517", "url": "https://glygen.org/publication/PubMed/33318517", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33319180", "url": "https://glygen.org/publication/PubMed/33319180", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33322005", "url": "https://glygen.org/publication/PubMed/33322005", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33338921", "url": "https://glygen.org/publication/PubMed/33338921", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33349852", "url": "https://glygen.org/publication/PubMed/33349852", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33363017", "url": "https://glygen.org/publication/PubMed/33363017", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33376545", "url": "https://glygen.org/publication/PubMed/33376545", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33377281", "url": "https://glygen.org/publication/PubMed/33377281", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33390782", "url": "https://glygen.org/publication/PubMed/33390782", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33407478", "url": "https://glygen.org/publication/PubMed/33407478", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33452459", "url": "https://glygen.org/publication/PubMed/33452459", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33468992", "url": "https://glygen.org/publication/PubMed/33468992", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33486250", "url": "https://glygen.org/publication/PubMed/33486250", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33500384", "url": "https://glygen.org/publication/PubMed/33500384", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33509092", "url": "https://glygen.org/publication/PubMed/33509092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33537819", "url": "https://glygen.org/publication/PubMed/33537819", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33571243", "url": "https://glygen.org/publication/PubMed/33571243", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33579899", "url": "https://glygen.org/publication/PubMed/33579899", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33588847", "url": "https://glygen.org/publication/PubMed/33588847", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33614606", "url": "https://glygen.org/publication/PubMed/33614606", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33614654", "url": "https://glygen.org/publication/PubMed/33614654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33615197", "url": "https://glygen.org/publication/PubMed/33615197", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33659252", "url": "https://glygen.org/publication/PubMed/33659252", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33659881", "url": "https://glygen.org/publication/PubMed/33659881", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33664437", "url": "https://glygen.org/publication/PubMed/33664437", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33669867", "url": "https://glygen.org/publication/PubMed/33669867", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33670586", "url": "https://glygen.org/publication/PubMed/33670586", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33723214", "url": "https://glygen.org/publication/PubMed/33723214", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33732339", "url": "https://glygen.org/publication/PubMed/33732339", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33742122", "url": "https://glygen.org/publication/PubMed/33742122", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33754012", "url": "https://glygen.org/publication/PubMed/33754012", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33808215", "url": "https://glygen.org/publication/PubMed/33808215", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33817584", "url": "https://glygen.org/publication/PubMed/33817584", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33829865", "url": "https://glygen.org/publication/PubMed/33829865", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33858515", "url": "https://glygen.org/publication/PubMed/33858515", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33868471", "url": "https://glygen.org/publication/PubMed/33868471", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33967735", "url": "https://glygen.org/publication/PubMed/33967735", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33984593", "url": "https://glygen.org/publication/PubMed/33984593", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34200497", "url": "https://glygen.org/publication/PubMed/34200497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34209868", "url": "https://glygen.org/publication/PubMed/34209868", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34909046", "url": "https://glygen.org/publication/PubMed/34909046", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34938598", "url": "https://glygen.org/publication/PubMed/34938598", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35008578", "url": "https://glygen.org/publication/PubMed/35008578", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35114593", "url": "https://glygen.org/publication/PubMed/35114593", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35253622", "url": "https://glygen.org/publication/PubMed/35253622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35269443", "url": "https://glygen.org/publication/PubMed/35269443", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35271909", "url": "https://glygen.org/publication/PubMed/35271909", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35366279", "url": "https://glygen.org/publication/PubMed/35366279", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35566660", "url": "https://glygen.org/publication/PubMed/35566660", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35641033", "url": "https://glygen.org/publication/PubMed/35641033", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35738117", "url": "https://glygen.org/publication/PubMed/35738117", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35918763", "url": "https://glygen.org/publication/PubMed/35918763", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36041631", "url": "https://glygen.org/publication/PubMed/36041631", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36106050", "url": "https://glygen.org/publication/PubMed/36106050", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36115854", "url": "https://glygen.org/publication/PubMed/36115854", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36212716", "url": "https://glygen.org/publication/PubMed/36212716", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36222151", "url": "https://glygen.org/publication/PubMed/36222151", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36386326", "url": "https://glygen.org/publication/PubMed/36386326", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36444808", "url": "https://glygen.org/publication/PubMed/36444808", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9850049", "url": "https://glygen.org/publication/PubMed/9850049", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9857186", "url": "https://glygen.org/publication/PubMed/9857186", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18456494", "url": "https://glygen.org/publication/PubMed/18456494", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20333297", "url": "https://glygen.org/publication/PubMed/20333297", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20481595", "url": "https://glygen.org/publication/PubMed/20481595", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9512493", "url": "https://glygen.org/publication/PubMed/9512493", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "IKITDFGLCKEGIKDGATMK", "down_seq": "FCGTPEYLAPEVLEDNDYGR", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr308", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "P31749", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "18728220", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18728220" }, { "id": "32830957", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32830957" }, { "id": "22629392", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22629392" }, { "id": "32892442", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32892442" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "26412745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26412745" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "16684529", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16684529" }, { "id": "30100348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30100348" }, { "id": "22564745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22564745" }, { "id": "20668475", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20668475" }, { "id": "29706631", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29706631" }, { "id": "22687243", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22687243" }, { "id": "P31749", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P31749" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "D", "comment": "5-fold activation and 18-fold activation; when associated with D-473.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "12244301", "url": "https://glygen.org/publication/PubMed/12244301" }, { "database": "PubMed", "id": "8978681", "url": "https://glygen.org/publication/PubMed/8978681" } ] } ], "snv": [ { "evidence": [ { "id": "rs2140905232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140905232" }, { "id": "rs2140905232", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2140905232" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "14", "chr_pos": "104773286", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T308", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "O15530-1", "kinase_gene_name": "PDPK1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "10226025", "url": "https://glygen.org/publication/PubMed/10226025" }, { "database": "PubMed", "id": "9368760", "url": "https://glygen.org/publication/PubMed/9368760" }, { "database": "PubMed", "id": "12167717", "url": "https://glygen.org/publication/PubMed/12167717" }, { "database": "PubMed", "id": "15718470", "url": "https://glygen.org/publication/PubMed/15718470" }, { "database": "PubMed", "id": "9094314", "url": "https://glygen.org/publication/PubMed/9094314" }, { "database": "PubMed", "id": "19602588", "url": "https://glygen.org/publication/PubMed/19602588" }, { "database": "PubMed", "id": "20361045", "url": "https://glygen.org/publication/PubMed/20361045" }, { "database": "PubMed", "id": "24352480", "url": "https://glygen.org/publication/PubMed/24352480" }, { "database": "PubMed", "id": "25912234", "url": "https://glygen.org/publication/PubMed/25912234" }, { "database": "PubMed", "id": "12808134", "url": "https://glygen.org/publication/PubMed/12808134" }, { "database": "PubMed", "id": "21798082", "url": "https://glygen.org/publication/PubMed/21798082" } ], "site_lbl": "Thr308" }, { "kinase_uniprot_canonical_ac": "P31749-1", "kinase_gene_name": "AKT1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "18477468", "url": "https://glygen.org/publication/PubMed/18477468" }, { "database": "PubMed", "id": "25719244", "url": "https://glygen.org/publication/PubMed/25719244" } ], "site_lbl": "Thr308" }, { "kinase_uniprot_canonical_ac": "P78527-1", "kinase_gene_name": "PRKDC", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "15678105", "url": "https://glygen.org/publication/PubMed/15678105" } ], "site_lbl": "Thr308" }, { "kinase_uniprot_canonical_ac": "Q07912-1", "kinase_gene_name": "TNK2", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "25678401", "url": "https://glygen.org/publication/PubMed/25678401" } ], "site_lbl": "Thr308" }, { "kinase_uniprot_canonical_ac": "Q14164-1", "kinase_gene_name": "IKBKE", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "21464307", "url": "https://glygen.org/publication/PubMed/21464307" } ], "site_lbl": "Thr308" }, { "kinase_uniprot_canonical_ac": "Q15118-1", "kinase_gene_name": "PDK1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "11278835", "url": "https://glygen.org/publication/PubMed/11278835" } ], "site_lbl": "Thr308" }, { "kinase_uniprot_canonical_ac": "Q8N5S9-1", "kinase_gene_name": "CAMKK1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "10833263", "url": "https://glygen.org/publication/PubMed/10833263" }, { "database": "PubMed", "id": "9859994", "url": "https://glygen.org/publication/PubMed/9859994" } ], "site_lbl": "Thr308" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by IKKE, PDPK1 and TBK1", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "11445557", "url": "https://glygen.org/publication/PubMed/11445557" }, { "database": "PubMed", "id": "12149249", "url": "https://glygen.org/publication/PubMed/12149249" }, { "database": "PubMed", "id": "14500673", "url": "https://glygen.org/publication/PubMed/14500673" }, { "database": "PubMed", "id": "16253990", "url": "https://glygen.org/publication/PubMed/16253990" }, { "database": "PubMed", "id": "16603397", "url": "https://glygen.org/publication/PubMed/16603397" }, { "database": "IntAct", "id": "P31749", "url": "https://www.ebi.ac.uk/intact/interactors/id:P31749*" }, { "database": "PubMed", "id": "18650932", "url": "https://glygen.org/publication/PubMed/18650932" }, { "database": "PubMed", "id": "16437163", "url": "https://glygen.org/publication/PubMed/16437163" }, { "database": "PRO", "id": "P31749", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P31749" }, { "database": "PubMed", "id": "16549426", "url": "https://glygen.org/publication/PubMed/16549426" }, { "database": "PubMed", "id": "8978681", "url": "https://glygen.org/publication/PubMed/8978681" }, { "database": "PubMed", "id": "10226025", "url": "https://glygen.org/publication/PubMed/10226025" }, { "database": "PubMed", "id": "10226029", "url": "https://glygen.org/publication/PubMed/10226029" }, { "database": "PubMed", "id": "10454216", "url": "https://glygen.org/publication/PubMed/10454216" }, { "database": "PubMed", "id": "10722653", "url": "https://glygen.org/publication/PubMed/10722653" }, { "database": "PubMed", "id": "10874027", "url": "https://glygen.org/publication/PubMed/10874027" }, { "database": "PubMed", "id": "10943719", "url": "https://glygen.org/publication/PubMed/10943719" }, { "database": "PubMed", "id": "11007949", "url": "https://glygen.org/publication/PubMed/11007949" }, { "database": "PubMed", "id": "11020382", "url": "https://glygen.org/publication/PubMed/11020382" }, { "database": "PubMed", "id": "11042204", "url": "https://glygen.org/publication/PubMed/11042204" }, { "database": "PubMed", "id": "11162641", "url": "https://glygen.org/publication/PubMed/11162641" }, { "database": "PubMed", "id": "11278269", "url": "https://glygen.org/publication/PubMed/11278269" }, { "database": "PubMed", "id": "11313365", "url": "https://glygen.org/publication/PubMed/11313365" }, { "database": "PubMed", "id": "11350959", "url": "https://glygen.org/publication/PubMed/11350959" }, { "database": "PubMed", "id": "11358816", "url": "https://glygen.org/publication/PubMed/11358816" }, { "database": "PubMed", "id": "11359783", "url": "https://glygen.org/publication/PubMed/11359783" }, { "database": "PubMed", "id": "11389054", "url": "https://glygen.org/publication/PubMed/11389054" }, { "database": "PubMed", "id": "11465707", "url": "https://glygen.org/publication/PubMed/11465707" }, { "database": "PubMed", "id": "11546775", "url": "https://glygen.org/publication/PubMed/11546775" }, { "database": "PubMed", "id": "11602740", "url": "https://glygen.org/publication/PubMed/11602740" }, { "database": "PubMed", "id": "11679435", "url": "https://glygen.org/publication/PubMed/11679435" }, { "database": "PubMed", "id": "11731021", "url": "https://glygen.org/publication/PubMed/11731021" }, { "database": "PubMed", "id": "11752635", "url": "https://glygen.org/publication/PubMed/11752635" }, { "database": "PubMed", "id": "11818508", "url": "https://glygen.org/publication/PubMed/11818508" }, { "database": "PubMed", "id": "11825911", "url": "https://glygen.org/publication/PubMed/11825911" }, { "database": "PubMed", "id": "11877406", "url": "https://glygen.org/publication/PubMed/11877406" }, { "database": "PubMed", "id": "11893783", "url": "https://glygen.org/publication/PubMed/11893783" }, { "database": "PubMed", "id": "11896604", "url": "https://glygen.org/publication/PubMed/11896604" }, { "database": "PubMed", "id": "12000750", "url": "https://glygen.org/publication/PubMed/12000750" }, { "database": "PubMed", "id": "12034358", "url": "https://glygen.org/publication/PubMed/12034358" }, { "database": "PubMed", "id": "12107725", "url": "https://glygen.org/publication/PubMed/12107725" }, { "database": "PubMed", "id": "12176337", "url": "https://glygen.org/publication/PubMed/12176337" }, { "database": "PubMed", "id": "12208782", "url": "https://glygen.org/publication/PubMed/12208782" }, { "database": "PubMed", "id": "12351701", "url": "https://glygen.org/publication/PubMed/12351701" }, { "database": "PubMed", "id": "12373610", "url": "https://glygen.org/publication/PubMed/12373610" }, { "database": "PubMed", "id": "12388598", "url": "https://glygen.org/publication/PubMed/12388598" }, { "database": "PubMed", "id": "12399007", "url": "https://glygen.org/publication/PubMed/12399007" }, { "database": "PubMed", "id": "12429987", "url": "https://glygen.org/publication/PubMed/12429987" }, { "database": "PubMed", "id": "12556562", "url": "https://glygen.org/publication/PubMed/12556562" }, { "database": "PubMed", "id": "12654898", "url": "https://glygen.org/publication/PubMed/12654898" }, { "database": "PubMed", "id": "12682057", "url": "https://glygen.org/publication/PubMed/12682057" }, { "database": "PubMed", "id": "12686550", "url": "https://glygen.org/publication/PubMed/12686550" }, { "database": "PubMed", "id": "12835332", "url": "https://glygen.org/publication/PubMed/12835332" }, { "database": "PubMed", "id": "12939297", "url": "https://glygen.org/publication/PubMed/12939297" }, { "database": "PubMed", "id": "14551191", "url": "https://glygen.org/publication/PubMed/14551191" }, { "database": "PubMed", "id": "14568991", "url": "https://glygen.org/publication/PubMed/14568991" }, { "database": "PubMed", "id": "14603261", "url": "https://glygen.org/publication/PubMed/14603261" }, { "database": "PubMed", "id": "14668339", "url": "https://glygen.org/publication/PubMed/14668339" }, { "database": "PubMed", "id": "14971662", "url": "https://glygen.org/publication/PubMed/14971662" }, { "database": "PubMed", "id": "14971663", "url": "https://glygen.org/publication/PubMed/14971663" }, { "database": "PubMed", "id": "14985356", "url": "https://glygen.org/publication/PubMed/14985356" }, { "database": "PubMed", "id": "14997209", "url": "https://glygen.org/publication/PubMed/14997209" }, { "database": "PubMed", "id": "15026145", "url": "https://glygen.org/publication/PubMed/15026145" }, { "database": "PubMed", "id": "15026550", "url": "https://glygen.org/publication/PubMed/15026550" }, { "database": "PubMed", "id": "15150572", "url": "https://glygen.org/publication/PubMed/15150572" }, { "database": "PubMed", "id": "15157674", "url": "https://glygen.org/publication/PubMed/15157674" }, { "database": "PubMed", "id": "15183529", "url": "https://glygen.org/publication/PubMed/15183529" }, { "database": "PubMed", "id": "15191562", "url": "https://glygen.org/publication/PubMed/15191562" }, { "database": "PubMed", "id": "15289499", "url": "https://glygen.org/publication/PubMed/15289499" }, { "database": "PubMed", "id": "15327518", "url": "https://glygen.org/publication/PubMed/15327518" }, { "database": "PubMed", "id": "15364915", "url": "https://glygen.org/publication/PubMed/15364915" }, { "database": "PubMed", "id": "15372623", "url": "https://glygen.org/publication/PubMed/15372623" }, { "database": "PubMed", "id": "15456405", "url": "https://glygen.org/publication/PubMed/15456405" }, { "database": "PubMed", "id": "15505622", "url": "https://glygen.org/publication/PubMed/15505622" }, { "database": "PubMed", "id": "15574783", "url": "https://glygen.org/publication/PubMed/15574783" }, { "database": "PubMed", "id": "15641106", "url": "https://glygen.org/publication/PubMed/15641106" }, { "database": "PubMed", "id": "15718470", "url": "https://glygen.org/publication/PubMed/15718470" }, { "database": "PubMed", "id": "15738003", "url": "https://glygen.org/publication/PubMed/15738003" }, { "database": "PubMed", "id": "15767780", "url": "https://glygen.org/publication/PubMed/15767780" }, { "database": "PubMed", "id": "15782140", "url": "https://glygen.org/publication/PubMed/15782140" }, { "database": "PubMed", "id": "15867390", "url": "https://glygen.org/publication/PubMed/15867390" }, { "database": "PubMed", "id": "15942714", "url": "https://glygen.org/publication/PubMed/15942714" }, { "database": "PubMed", "id": "15998799", "url": "https://glygen.org/publication/PubMed/15998799" }, { "database": "PubMed", "id": "16009726", "url": "https://glygen.org/publication/PubMed/16009726" }, { "database": "PubMed", "id": "16046309", "url": "https://glygen.org/publication/PubMed/16046309" }, { "database": "PubMed", "id": "16100524", "url": "https://glygen.org/publication/PubMed/16100524" }, { "database": "PubMed", "id": "16103100", "url": "https://glygen.org/publication/PubMed/16103100" }, { "database": "PubMed", "id": "16168126", "url": "https://glygen.org/publication/PubMed/16168126" }, { "database": "PubMed", "id": "16169930", "url": "https://glygen.org/publication/PubMed/16169930" }, { "database": "PubMed", "id": "16275989", "url": "https://glygen.org/publication/PubMed/16275989" }, { "database": "PubMed", "id": "16288304", "url": "https://glygen.org/publication/PubMed/16288304" }, { "database": "PubMed", "id": "16299382", "url": "https://glygen.org/publication/PubMed/16299382" }, { "database": "PubMed", "id": "16306364", "url": "https://glygen.org/publication/PubMed/16306364" }, { "database": "PubMed", "id": "16330671", "url": "https://glygen.org/publication/PubMed/16330671" }, { "database": "PubMed", "id": "16419156", "url": "https://glygen.org/publication/PubMed/16419156" }, { "database": "PubMed", "id": "16531397", "url": "https://glygen.org/publication/PubMed/16531397" }, { "database": "PubMed", "id": "16543232", "url": "https://glygen.org/publication/PubMed/16543232" }, { "database": "PubMed", "id": "16585200", "url": "https://glygen.org/publication/PubMed/16585200" }, { "database": "PubMed", "id": "16619307", "url": "https://glygen.org/publication/PubMed/16619307" }, { "database": "PubMed", "id": "16636147", "url": "https://glygen.org/publication/PubMed/16636147" }, { "database": "PubMed", "id": "16731842", "url": "https://glygen.org/publication/PubMed/16731842" }, { "database": "PubMed", "id": "16763108", "url": "https://glygen.org/publication/PubMed/16763108" }, { "database": "PubMed", "id": "16763222", "url": "https://glygen.org/publication/PubMed/16763222" }, { "database": "PubMed", "id": "16916597", "url": "https://glygen.org/publication/PubMed/16916597" }, { "database": "PubMed", "id": "16940331", "url": "https://glygen.org/publication/PubMed/16940331" }, { "database": "PubMed", "id": "16987028", "url": "https://glygen.org/publication/PubMed/16987028" }, { "database": "PubMed", "id": "16987514", "url": "https://glygen.org/publication/PubMed/16987514" }, { "database": "PubMed", "id": "17028898", "url": "https://glygen.org/publication/PubMed/17028898" }, { "database": "PubMed", "id": "17041888", "url": "https://glygen.org/publication/PubMed/17041888" }, { "database": "PubMed", "id": "17077344", "url": "https://glygen.org/publication/PubMed/17077344" }, { "database": "PubMed", "id": "17096325", "url": "https://glygen.org/publication/PubMed/17096325" }, { "database": "PubMed", "id": "17158952", "url": "https://glygen.org/publication/PubMed/17158952" }, { "database": "PubMed", "id": "17196679", "url": "https://glygen.org/publication/PubMed/17196679" }, { "database": "PubMed", "id": "17198778", "url": "https://glygen.org/publication/PubMed/17198778" }, { "database": "PubMed", "id": "17234785", "url": "https://glygen.org/publication/PubMed/17234785" }, { "database": "PubMed", "id": "17259384", "url": "https://glygen.org/publication/PubMed/17259384" }, { "database": "PubMed", "id": "17313857", "url": "https://glygen.org/publication/PubMed/17313857" }, { "database": "PubMed", "id": "17339610", "url": "https://glygen.org/publication/PubMed/17339610" }, { "database": "PubMed", "id": "17400190", "url": "https://glygen.org/publication/PubMed/17400190" }, { "database": "PubMed", "id": "17407381", "url": "https://glygen.org/publication/PubMed/17407381" }, { "database": "PubMed", "id": "17468516", "url": "https://glygen.org/publication/PubMed/17468516" }, { "database": "PubMed", "id": "17520061", "url": "https://glygen.org/publication/PubMed/17520061" }, { "database": "PubMed", "id": "17548608", "url": "https://glygen.org/publication/PubMed/17548608" }, { "database": "PubMed", "id": "17556533", "url": "https://glygen.org/publication/PubMed/17556533" }, { "database": "PubMed", "id": "17562705", "url": "https://glygen.org/publication/PubMed/17562705" }, { "database": "PubMed", "id": "17594810", "url": "https://glygen.org/publication/PubMed/17594810" }, { "database": "PubMed", "id": "17615157", "url": "https://glygen.org/publication/PubMed/17615157" }, { "database": "PubMed", "id": "17684018", "url": "https://glygen.org/publication/PubMed/17684018" }, { "database": "PubMed", "id": "17826953", "url": "https://glygen.org/publication/PubMed/17826953" }, { "database": "PubMed", "id": "17848913", "url": "https://glygen.org/publication/PubMed/17848913" }, { "database": "PubMed", "id": "17883592", "url": "https://glygen.org/publication/PubMed/17883592" }, { "database": "PubMed", "id": "17910952", "url": "https://glygen.org/publication/PubMed/17910952" }, { "database": "PubMed", "id": "17928291", "url": "https://glygen.org/publication/PubMed/17928291" }, { "database": "PubMed", "id": "17960559", "url": "https://glygen.org/publication/PubMed/17960559" }, { "database": "PubMed", "id": "17971124", "url": "https://glygen.org/publication/PubMed/17971124" }, { "database": "PubMed", "id": "17977950", "url": "https://glygen.org/publication/PubMed/17977950" }, { "database": "PubMed", "id": "18006275", "url": "https://glygen.org/publication/PubMed/18006275" }, { "database": "PubMed", "id": "18006659", "url": "https://glygen.org/publication/PubMed/18006659" }, { "database": "PubMed", "id": "18054038", "url": "https://glygen.org/publication/PubMed/18054038" }, { "database": "PubMed", "id": "18197291", "url": "https://glygen.org/publication/PubMed/18197291" }, { "database": "PubMed", "id": "18199958", "url": "https://glygen.org/publication/PubMed/18199958" }, { "database": "PubMed", "id": "18204829", "url": "https://glygen.org/publication/PubMed/18204829" }, { "database": "PubMed", "id": "18262492", "url": "https://glygen.org/publication/PubMed/18262492" }, { "database": "PubMed", "id": "18305032", "url": "https://glygen.org/publication/PubMed/18305032" }, { "database": "PubMed", "id": "18332867", "url": "https://glygen.org/publication/PubMed/18332867" }, { "database": "PubMed", "id": "18391071", "url": "https://glygen.org/publication/PubMed/18391071" }, { "database": "PubMed", "id": "18409144", "url": "https://glygen.org/publication/PubMed/18409144" }, { "database": "PubMed", "id": "18443205", "url": "https://glygen.org/publication/PubMed/18443205" }, { "database": "PubMed", "id": "18477468", "url": "https://glygen.org/publication/PubMed/18477468" }, { "database": "PubMed", "id": "18535836", "url": "https://glygen.org/publication/PubMed/18535836" }, { "database": "PubMed", "id": "18557931", "url": "https://glygen.org/publication/PubMed/18557931" }, { "database": "PubMed", "id": "18615850", "url": "https://glygen.org/publication/PubMed/18615850" }, { "database": "PubMed", "id": "18691227", "url": "https://glygen.org/publication/PubMed/18691227" }, { "database": "PubMed", "id": "18725974", "url": "https://glygen.org/publication/PubMed/18725974" }, { "database": "PubMed", "id": "18795165", "url": "https://glygen.org/publication/PubMed/18795165" }, { "database": "PubMed", "id": "18801898", "url": "https://glygen.org/publication/PubMed/18801898" }, { "database": "PubMed", "id": "18838385", "url": "https://glygen.org/publication/PubMed/18838385" }, { "database": "PubMed", "id": "18838554", "url": "https://glygen.org/publication/PubMed/18838554" }, { "database": "PubMed", "id": "18931031", "url": "https://glygen.org/publication/PubMed/18931031" }, { "database": "PubMed", "id": "19039330", "url": "https://glygen.org/publication/PubMed/19039330" }, { "database": "PubMed", "id": "19055752", "url": "https://glygen.org/publication/PubMed/19055752" }, { "database": "PubMed", "id": "19074832", "url": "https://glygen.org/publication/PubMed/19074832" }, { "database": "PubMed", "id": "19099901", "url": "https://glygen.org/publication/PubMed/19099901" }, { "database": "PubMed", "id": "19153210", "url": "https://glygen.org/publication/PubMed/19153210" }, { "database": "PubMed", "id": "19158829", "url": "https://glygen.org/publication/PubMed/19158829" }, { "database": "PubMed", "id": "19166270", "url": "https://glygen.org/publication/PubMed/19166270" }, { "database": "PubMed", "id": "19166512", "url": "https://glygen.org/publication/PubMed/19166512" }, { "database": "PubMed", "id": "19166928", "url": "https://glygen.org/publication/PubMed/19166928" }, { "database": "PubMed", "id": "19209957", "url": "https://glygen.org/publication/PubMed/19209957" }, { "database": "PubMed", "id": "19211028", "url": "https://glygen.org/publication/PubMed/19211028" }, { "database": "PubMed", "id": "19233842", "url": "https://glygen.org/publication/PubMed/19233842" }, { "database": "PubMed", "id": "19238332", "url": "https://glygen.org/publication/PubMed/19238332" }, { "database": "PubMed", "id": "19255520", "url": "https://glygen.org/publication/PubMed/19255520" }, { "database": "PubMed", "id": "19262695", "url": "https://glygen.org/publication/PubMed/19262695" }, { "database": "PubMed", "id": "19293927", "url": "https://glygen.org/publication/PubMed/19293927" }, { "database": "PubMed", "id": "19307602", "url": "https://glygen.org/publication/PubMed/19307602" }, { "database": "PubMed", "id": "19320971", "url": "https://glygen.org/publication/PubMed/19320971" }, { "database": "PubMed", "id": "19349584", "url": "https://glygen.org/publication/PubMed/19349584" }, { "database": "PubMed", "id": "19372546", "url": "https://glygen.org/publication/PubMed/19372546" }, { "database": "PubMed", "id": "19402821", "url": "https://glygen.org/publication/PubMed/19402821" }, { "database": "PubMed", "id": "19422047", "url": "https://glygen.org/publication/PubMed/19422047" }, { "database": "PubMed", "id": "19446470", "url": "https://glygen.org/publication/PubMed/19446470" }, { "database": "PubMed", "id": "19465931", "url": "https://glygen.org/publication/PubMed/19465931" }, { "database": "PubMed", "id": "19472218", "url": "https://glygen.org/publication/PubMed/19472218" }, { "database": "PubMed", "id": "19574502", "url": "https://glygen.org/publication/PubMed/19574502" }, { "database": "PubMed", "id": "19602588", "url": "https://glygen.org/publication/PubMed/19602588" }, { "database": "PubMed", "id": "19633130", "url": "https://glygen.org/publication/PubMed/19633130" }, { "database": "PubMed", "id": "19636556", "url": "https://glygen.org/publication/PubMed/19636556" }, { "database": "PubMed", "id": "19644030", "url": "https://glygen.org/publication/PubMed/19644030" }, { "database": "PubMed", "id": "19661305", "url": "https://glygen.org/publication/PubMed/19661305" }, { "database": "PubMed", "id": "19672739", "url": "https://glygen.org/publication/PubMed/19672739" }, { "database": "PubMed", "id": "19675138", "url": "https://glygen.org/publication/PubMed/19675138" }, { "database": "PubMed", "id": "19703998", "url": "https://glygen.org/publication/PubMed/19703998" }, { "database": "PubMed", "id": "19726058", "url": "https://glygen.org/publication/PubMed/19726058" }, { "database": "PubMed", "id": "19779850", "url": "https://glygen.org/publication/PubMed/19779850" }, { "database": "PubMed", "id": "19823931", "url": "https://glygen.org/publication/PubMed/19823931" }, { "database": "PubMed", "id": "19855434", "url": "https://glygen.org/publication/PubMed/19855434" }, { "database": "PubMed", "id": "19892919", "url": "https://glygen.org/publication/PubMed/19892919" }, { "database": "PubMed", "id": "19902931", "url": "https://glygen.org/publication/PubMed/19902931" }, { "database": "PubMed", "id": "19954970", "url": "https://glygen.org/publication/PubMed/19954970" }, { "database": "PubMed", "id": "19996208", "url": "https://glygen.org/publication/PubMed/19996208" }, { "database": "PubMed", "id": "20026151", "url": "https://glygen.org/publication/PubMed/20026151" }, { "database": "PubMed", "id": "20039275", "url": "https://glygen.org/publication/PubMed/20039275" }, { "database": "PubMed", "id": "20046837", "url": "https://glygen.org/publication/PubMed/20046837" }, { "database": "PubMed", "id": "20051961", "url": "https://glygen.org/publication/PubMed/20051961" }, { "database": "PubMed", "id": "20054000", "url": "https://glygen.org/publication/PubMed/20054000" }, { "database": "PubMed", "id": "20054340", "url": "https://glygen.org/publication/PubMed/20054340" }, { "database": "PubMed", "id": "20081374", "url": "https://glygen.org/publication/PubMed/20081374" }, { "database": "PubMed", "id": "20106927", "url": "https://glygen.org/publication/PubMed/20106927" }, { "database": "PubMed", "id": "20150288", "url": "https://glygen.org/publication/PubMed/20150288" }, { "database": "PubMed", "id": "20153512", "url": "https://glygen.org/publication/PubMed/20153512" }, { "database": "PubMed", "id": "20163786", "url": "https://glygen.org/publication/PubMed/20163786" }, { "database": "PubMed", "id": "20169162", "url": "https://glygen.org/publication/PubMed/20169162" }, { "database": "PubMed", "id": "20183800", "url": "https://glygen.org/publication/PubMed/20183800" }, { "database": "PubMed", "id": "20186153", "url": "https://glygen.org/publication/PubMed/20186153" }, { "database": "PubMed", "id": "20205745", "url": "https://glygen.org/publication/PubMed/20205745" }, { "database": "PubMed", "id": "20332342", "url": "https://glygen.org/publication/PubMed/20332342" }, { "database": "PubMed", "id": "20333467", "url": "https://glygen.org/publication/PubMed/20333467" }, { "database": "PubMed", "id": "20334367", "url": "https://glygen.org/publication/PubMed/20334367" }, { "database": "PubMed", "id": "20361045", "url": "https://glygen.org/publication/PubMed/20361045" }, { "database": "PubMed", "id": "20375905", "url": "https://glygen.org/publication/PubMed/20375905" }, { "database": "PubMed", "id": "20383279", "url": "https://glygen.org/publication/PubMed/20383279" }, { "database": "PubMed", "id": "20385969", "url": "https://glygen.org/publication/PubMed/20385969" }, { "database": "PubMed", "id": "20400975", "url": "https://glygen.org/publication/PubMed/20400975" }, { "database": "PubMed", "id": "20421190", "url": "https://glygen.org/publication/PubMed/20421190" }, { "database": "PubMed", "id": "20454577", "url": "https://glygen.org/publication/PubMed/20454577" }, { "database": "PubMed", "id": "20463894", "url": "https://glygen.org/publication/PubMed/20463894" }, { "database": "PubMed", "id": "20489726", "url": "https://glygen.org/publication/PubMed/20489726" }, { "database": "PubMed", "id": "20494139", "url": "https://glygen.org/publication/PubMed/20494139" }, { "database": "PubMed", "id": "20517722", "url": "https://glygen.org/publication/PubMed/20517722" }, { "database": "PubMed", "id": "20520724", "url": "https://glygen.org/publication/PubMed/20520724" }, { "database": "PubMed", "id": "20532215", "url": "https://glygen.org/publication/PubMed/20532215" }, { "database": "PubMed", "id": "20540782", "url": "https://glygen.org/publication/PubMed/20540782" }, { "database": "PubMed", "id": "20543991", "url": "https://glygen.org/publication/PubMed/20543991" }, { "database": "PubMed", "id": "20585660", "url": "https://glygen.org/publication/PubMed/20585660" }, { "database": "PubMed", "id": "20643654", "url": "https://glygen.org/publication/PubMed/20643654" }, { "database": "PubMed", "id": "20686178", "url": "https://glygen.org/publication/PubMed/20686178" }, { "database": "PubMed", "id": "20691662", "url": "https://glygen.org/publication/PubMed/20691662" }, { "database": "PubMed", "id": "20836557", "url": "https://glygen.org/publication/PubMed/20836557" }, { "database": "PubMed", "id": "20850432", "url": "https://glygen.org/publication/PubMed/20850432" }, { "database": "PubMed", "id": "20860815", "url": "https://glygen.org/publication/PubMed/20860815" }, { "database": "PubMed", "id": "20863384", "url": "https://glygen.org/publication/PubMed/20863384" }, { "database": "PubMed", "id": "20938636", "url": "https://glygen.org/publication/PubMed/20938636" }, { "database": "PubMed", "id": "20950443", "url": "https://glygen.org/publication/PubMed/20950443" }, { "database": "PubMed", "id": "20952497", "url": "https://glygen.org/publication/PubMed/20952497" }, { "database": "PubMed", "id": "20975834", "url": "https://glygen.org/publication/PubMed/20975834" }, { "database": "PubMed", "id": "20980511", "url": "https://glygen.org/publication/PubMed/20980511" }, { "database": "PubMed", "id": "21078168", "url": "https://glygen.org/publication/PubMed/21078168" }, { "database": "PubMed", "id": "21097843", "url": "https://glygen.org/publication/PubMed/21097843" }, { "database": "PubMed", "id": "21110076", "url": "https://glygen.org/publication/PubMed/21110076" }, { "database": "PubMed", "id": "21131356", "url": "https://glygen.org/publication/PubMed/21131356" }, { "database": "PubMed", "id": "21152033", "url": "https://glygen.org/publication/PubMed/21152033" }, { "database": "PubMed", "id": "21183727", "url": "https://glygen.org/publication/PubMed/21183727" }, { "database": "PubMed", "id": "21209911", "url": "https://glygen.org/publication/PubMed/21209911" }, { "database": "PubMed", "id": "21278786", "url": "https://glygen.org/publication/PubMed/21278786" }, { "database": "PubMed", "id": "21295499", "url": "https://glygen.org/publication/PubMed/21295499" }, { "database": "PubMed", "id": "21300751", "url": "https://glygen.org/publication/PubMed/21300751" }, { "database": "PubMed", "id": "21321187", "url": "https://glygen.org/publication/PubMed/21321187" }, { "database": "PubMed", "id": "21325624", "url": "https://glygen.org/publication/PubMed/21325624" }, { "database": "PubMed", "id": "21364639", "url": "https://glygen.org/publication/PubMed/21364639" }, { "database": "PubMed", "id": "21402788", "url": "https://glygen.org/publication/PubMed/21402788" }, { "database": "PubMed", "id": "21415306", "url": "https://glygen.org/publication/PubMed/21415306" }, { "database": "PubMed", "id": "21445305", "url": "https://glygen.org/publication/PubMed/21445305" }, { "database": "PubMed", "id": "21464307", "url": "https://glygen.org/publication/PubMed/21464307" }, { "database": "PubMed", "id": "21483870", "url": "https://glygen.org/publication/PubMed/21483870" }, { "database": "PubMed", "id": "21490677", "url": "https://glygen.org/publication/PubMed/21490677" }, { "database": "PubMed", "id": "21496273", "url": "https://glygen.org/publication/PubMed/21496273" }, { "database": "PubMed", "id": "21505451", "url": "https://glygen.org/publication/PubMed/21505451" }, { "database": "PubMed", "id": "21514425", "url": "https://glygen.org/publication/PubMed/21514425" }, { "database": "PubMed", "id": "21518140", "url": "https://glygen.org/publication/PubMed/21518140" }, { "database": "PubMed", "id": "21559284", "url": "https://glygen.org/publication/PubMed/21559284" }, { "database": "PubMed", "id": "21559502", "url": "https://glygen.org/publication/PubMed/21559502" }, { "database": "PubMed", "id": "21565140", "url": "https://glygen.org/publication/PubMed/21565140" }, { "database": "PubMed", "id": "21592956", "url": "https://glygen.org/publication/PubMed/21592956" }, { "database": "PubMed", "id": "21600875", "url": "https://glygen.org/publication/PubMed/21600875" }, { "database": "PubMed", "id": "21625639", "url": "https://glygen.org/publication/PubMed/21625639" }, { "database": "PubMed", "id": "21660042", "url": "https://glygen.org/publication/PubMed/21660042" }, { "database": "PubMed", "id": "21666717", "url": "https://glygen.org/publication/PubMed/21666717" }, { "database": "PubMed", "id": "21668414", "url": "https://glygen.org/publication/PubMed/21668414" }, { "database": "PubMed", "id": "21687633", "url": "https://glygen.org/publication/PubMed/21687633" }, { "database": "PubMed", "id": "21698202", "url": "https://glygen.org/publication/PubMed/21698202" }, { "database": "PubMed", "id": "21705677", "url": "https://glygen.org/publication/PubMed/21705677" }, { "database": "PubMed", "id": "21724622", "url": "https://glygen.org/publication/PubMed/21724622" }, { "database": "PubMed", "id": "21732756", "url": "https://glygen.org/publication/PubMed/21732756" }, { "database": "PubMed", "id": "21763075", "url": "https://glygen.org/publication/PubMed/21763075" }, { "database": "PubMed", "id": "21767636", "url": "https://glygen.org/publication/PubMed/21767636" }, { "database": "PubMed", "id": "21804606", "url": "https://glygen.org/publication/PubMed/21804606" }, { "database": "PubMed", "id": "21818627", "url": "https://glygen.org/publication/PubMed/21818627" }, { "database": "PubMed", "id": "21867682", "url": "https://glygen.org/publication/PubMed/21867682" }, { "database": "PubMed", "id": "21879332", "url": "https://glygen.org/publication/PubMed/21879332" }, { "database": "PubMed", "id": "21901254", "url": "https://glygen.org/publication/PubMed/21901254" }, { "database": "PubMed", "id": "21908613", "url": "https://glygen.org/publication/PubMed/21908613" }, { "database": "PubMed", "id": "21956113", "url": "https://glygen.org/publication/PubMed/21956113" }, { "database": "PubMed", "id": "22012613", "url": "https://glygen.org/publication/PubMed/22012613" }, { "database": "PubMed", "id": "22029423", "url": "https://glygen.org/publication/PubMed/22029423" }, { "database": "PubMed", "id": "22031698", "url": "https://glygen.org/publication/PubMed/22031698" }, { "database": "PubMed", "id": "22039466", "url": "https://glygen.org/publication/PubMed/22039466" }, { "database": "PubMed", "id": "22107784", "url": "https://glygen.org/publication/PubMed/22107784" }, { "database": "PubMed", "id": "22110663", "url": "https://glygen.org/publication/PubMed/22110663" }, { "database": "PubMed", "id": "22139837", "url": "https://glygen.org/publication/PubMed/22139837" }, { "database": "PubMed", "id": "22140653", "url": "https://glygen.org/publication/PubMed/22140653" }, { "database": "PubMed", "id": "22173970", "url": "https://glygen.org/publication/PubMed/22173970" }, { "database": "PubMed", "id": "22184110", "url": "https://glygen.org/publication/PubMed/22184110" }, { "database": "PubMed", "id": "22207758", "url": "https://glygen.org/publication/PubMed/22207758" }, { "database": "PubMed", "id": "22245935", "url": "https://glygen.org/publication/PubMed/22245935" }, { "database": "PubMed", "id": "22248929", "url": "https://glygen.org/publication/PubMed/22248929" }, { "database": "PubMed", "id": "22305748", "url": "https://glygen.org/publication/PubMed/22305748" }, { "database": "PubMed", "id": "22322917", "url": "https://glygen.org/publication/PubMed/22322917" }, { "database": "PubMed", "id": "22335604", "url": "https://glygen.org/publication/PubMed/22335604" }, { "database": "PubMed", "id": "22337773", "url": "https://glygen.org/publication/PubMed/22337773" }, { "database": "PubMed", "id": "22347457", "url": "https://glygen.org/publication/PubMed/22347457" }, { "database": "PubMed", "id": "22363598", "url": "https://glygen.org/publication/PubMed/22363598" }, { "database": "PubMed", "id": "22379109", "url": "https://glygen.org/publication/PubMed/22379109" }, { "database": "PubMed", "id": "22403297", "url": "https://glygen.org/publication/PubMed/22403297" }, { "database": "PubMed", "id": "22415553", "url": "https://glygen.org/publication/PubMed/22415553" }, { "database": "PubMed", "id": "22422409", "url": "https://glygen.org/publication/PubMed/22422409" }, { "database": "PubMed", "id": "22460505", "url": "https://glygen.org/publication/PubMed/22460505" }, { "database": "PubMed", "id": "22473959", "url": "https://glygen.org/publication/PubMed/22473959" }, { "database": "PubMed", "id": "22487004", "url": "https://glygen.org/publication/PubMed/22487004" }, { "database": "PubMed", "id": "22509246", "url": "https://glygen.org/publication/PubMed/22509246" }, { "database": "PubMed", "id": "22510297", "url": "https://glygen.org/publication/PubMed/22510297" }, { "database": "PubMed", "id": "22511762", "url": "https://glygen.org/publication/PubMed/22511762" }, { "database": "PubMed", "id": "22529978", "url": "https://glygen.org/publication/PubMed/22529978" }, { "database": "PubMed", "id": "22567414", "url": "https://glygen.org/publication/PubMed/22567414" }, { "database": "PubMed", "id": "22569334", "url": "https://glygen.org/publication/PubMed/22569334" }, { "database": "PubMed", "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392" }, { "database": "PubMed", "id": "22685542", "url": "https://glygen.org/publication/PubMed/22685542" }, { "database": "PubMed", "id": "22690138", "url": "https://glygen.org/publication/PubMed/22690138" }, { "database": "PubMed", "id": "22699894", "url": "https://glygen.org/publication/PubMed/22699894" }, { "database": "PubMed", "id": "22730174", "url": "https://glygen.org/publication/PubMed/22730174" }, { "database": "PubMed", "id": "22739265", "url": "https://glygen.org/publication/PubMed/22739265" }, { "database": "PubMed", "id": "22771387", "url": "https://glygen.org/publication/PubMed/22771387" }, { "database": "PubMed", "id": "22785470", "url": "https://glygen.org/publication/PubMed/22785470" }, { "database": "PubMed", "id": "22787432", "url": "https://glygen.org/publication/PubMed/22787432" }, { "database": "PubMed", "id": "22809628", "url": "https://glygen.org/publication/PubMed/22809628" }, { "database": "PubMed", "id": "22830422", "url": "https://glygen.org/publication/PubMed/22830422" }, { "database": "PubMed", "id": "22839755", "url": "https://glygen.org/publication/PubMed/22839755" }, { "database": "PubMed", "id": "22864984", "url": "https://glygen.org/publication/PubMed/22864984" }, { "database": "PubMed", "id": "22871047", "url": "https://glygen.org/publication/PubMed/22871047" }, { "database": "PubMed", "id": "22880048", "url": "https://glygen.org/publication/PubMed/22880048" }, { "database": "PubMed", "id": "22902327", "url": "https://glygen.org/publication/PubMed/22902327" }, { "database": "PubMed", "id": "22905719", "url": "https://glygen.org/publication/PubMed/22905719" }, { "database": "PubMed", "id": "22909302", "url": "https://glygen.org/publication/PubMed/22909302" }, { "database": "PubMed", "id": "22912850", "url": "https://glygen.org/publication/PubMed/22912850" }, { "database": "PubMed", "id": "22927331", "url": "https://glygen.org/publication/PubMed/22927331" }, { "database": "PubMed", "id": "22957045", "url": "https://glygen.org/publication/PubMed/22957045" }, { "database": "PubMed", "id": "22975683", "url": "https://glygen.org/publication/PubMed/22975683" }, { "database": "PubMed", "id": "23030823", "url": "https://glygen.org/publication/PubMed/23030823" }, { "database": "PubMed", "id": "23045700", "url": "https://glygen.org/publication/PubMed/23045700" }, { "database": "PubMed", "id": "23049696", "url": "https://glygen.org/publication/PubMed/23049696" }, { "database": "PubMed", "id": "23061721", "url": "https://glygen.org/publication/PubMed/23061721" }, { "database": "PubMed", "id": "23071583", "url": "https://glygen.org/publication/PubMed/23071583" }, { "database": "PubMed", "id": "23077590", "url": "https://glygen.org/publication/PubMed/23077590" }, { "database": "PubMed", "id": "23085420", "url": "https://glygen.org/publication/PubMed/23085420" }, { "database": "PubMed", "id": "23100325", "url": "https://glygen.org/publication/PubMed/23100325" }, { "database": "PubMed", "id": "23119004", "url": "https://glygen.org/publication/PubMed/23119004" }, { "database": "PubMed", "id": "23127854", "url": "https://glygen.org/publication/PubMed/23127854" }, { "database": "PubMed", "id": "23151908", "url": "https://glygen.org/publication/PubMed/23151908" }, { "database": "PubMed", "id": "23155381", "url": "https://glygen.org/publication/PubMed/23155381" }, { "database": "PubMed", "id": "23161797", "url": "https://glygen.org/publication/PubMed/23161797" }, { "database": "PubMed", "id": "23167739", "url": "https://glygen.org/publication/PubMed/23167739" }, { "database": "PubMed", "id": "23182460", "url": "https://glygen.org/publication/PubMed/23182460" }, { "database": "PubMed", "id": "23183047", "url": "https://glygen.org/publication/PubMed/23183047" }, { "database": "PubMed", "id": "23192081", "url": "https://glygen.org/publication/PubMed/23192081" }, { "database": "PubMed", "id": "23237847", "url": "https://glygen.org/publication/PubMed/23237847" }, { "database": "PubMed", "id": "23243000", "url": "https://glygen.org/publication/PubMed/23243000" }, { "database": "PubMed", "id": "23263555", "url": "https://glygen.org/publication/PubMed/23263555" }, { "database": "PubMed", "id": "23272152", "url": "https://glygen.org/publication/PubMed/23272152" }, { "database": "PubMed", "id": "23274898", "url": "https://glygen.org/publication/PubMed/23274898" }, { "database": "PubMed", "id": "23285096", "url": "https://glygen.org/publication/PubMed/23285096" }, { "database": "PubMed", "id": "23285163", "url": "https://glygen.org/publication/PubMed/23285163" }, { "database": "PubMed", "id": "23299550", "url": "https://glygen.org/publication/PubMed/23299550" }, { "database": "PubMed", "id": "23300339", "url": "https://glygen.org/publication/PubMed/23300339" }, { "database": "PubMed", "id": "23303682", "url": "https://glygen.org/publication/PubMed/23303682" }, { "database": "PubMed", "id": "23349989", "url": "https://glygen.org/publication/PubMed/23349989" }, { "database": "PubMed", "id": "23383252", "url": "https://glygen.org/publication/PubMed/23383252" }, { "database": "PubMed", "id": "23396361", "url": "https://glygen.org/publication/PubMed/23396361" }, { "database": "PubMed", "id": "23402310", "url": "https://glygen.org/publication/PubMed/23402310" }, { "database": "PubMed", "id": "23415012", "url": "https://glygen.org/publication/PubMed/23415012" }, { "database": "PubMed", "id": "23419269", "url": "https://glygen.org/publication/PubMed/23419269" }, { "database": "PubMed", "id": "23426255", "url": "https://glygen.org/publication/PubMed/23426255" }, { "database": "PubMed", "id": "23427269", "url": "https://glygen.org/publication/PubMed/23427269" }, { "database": "PubMed", "id": "23436801", "url": "https://glygen.org/publication/PubMed/23436801" }, { "database": "PubMed", "id": "23437362", "url": "https://glygen.org/publication/PubMed/23437362" }, { "database": "PubMed", "id": "23448424", "url": "https://glygen.org/publication/PubMed/23448424" }, { "database": "PubMed", "id": "23466053", "url": "https://glygen.org/publication/PubMed/23466053" }, { "database": "PubMed", "id": "23469007", "url": "https://glygen.org/publication/PubMed/23469007" }, { "database": "PubMed", "id": "23497867", "url": "https://glygen.org/publication/PubMed/23497867" }, { "database": "PubMed", "id": "23506355", "url": "https://glygen.org/publication/PubMed/23506355" }, { "database": "PubMed", "id": "23529222", "url": "https://glygen.org/publication/PubMed/23529222" }, { "database": "PubMed", "id": "23570421", "url": "https://glygen.org/publication/PubMed/23570421" }, { "database": "PubMed", "id": "23580233", "url": "https://glygen.org/publication/PubMed/23580233" }, { "database": "PubMed", "id": "23596569", "url": "https://glygen.org/publication/PubMed/23596569" }, { "database": "PubMed", "id": "23613850", "url": "https://glygen.org/publication/PubMed/23613850" }, { "database": "PubMed", "id": "23623968", "url": "https://glygen.org/publication/PubMed/23623968" }, { "database": "PubMed", "id": "23650507", "url": "https://glygen.org/publication/PubMed/23650507" }, { "database": "PubMed", "id": "23668972", "url": "https://glygen.org/publication/PubMed/23668972" }, { "database": "PubMed", "id": "23680186", "url": "https://glygen.org/publication/PubMed/23680186" }, { "database": "PubMed", "id": "23681745", "url": "https://glygen.org/publication/PubMed/23681745" }, { "database": "PubMed", "id": "23684622", "url": "https://glygen.org/publication/PubMed/23684622" }, { "database": "PubMed", "id": "23696823", "url": "https://glygen.org/publication/PubMed/23696823" }, { "database": "PubMed", "id": "23705826", "url": "https://glygen.org/publication/PubMed/23705826" }, { "database": "PubMed", "id": "23727661", "url": "https://glygen.org/publication/PubMed/23727661" }, { "database": "PubMed", "id": "23748344", "url": "https://glygen.org/publication/PubMed/23748344" }, { "database": "PubMed", "id": "23773626", "url": "https://glygen.org/publication/PubMed/23773626" }, { "database": "PubMed", "id": "23799035", "url": "https://glygen.org/publication/PubMed/23799035" }, { "database": "PubMed", "id": "23802099", "url": "https://glygen.org/publication/PubMed/23802099" }, { "database": "PubMed", "id": "23832089", "url": "https://glygen.org/publication/PubMed/23832089" }, { "database": "PubMed", "id": "23840605", "url": "https://glygen.org/publication/PubMed/23840605" }, { "database": "PubMed", "id": "23844554", "url": "https://glygen.org/publication/PubMed/23844554" }, { "database": "PubMed", "id": "23849428", "url": "https://glygen.org/publication/PubMed/23849428" }, { "database": "PubMed", "id": "23872419", "url": "https://glygen.org/publication/PubMed/23872419" }, { "database": "PubMed", "id": "23912456", "url": "https://glygen.org/publication/PubMed/23912456" }, { "database": "PubMed", "id": "23922669", "url": "https://glygen.org/publication/PubMed/23922669" }, { "database": "PubMed", "id": "23928696", "url": "https://glygen.org/publication/PubMed/23928696" }, { "database": "PubMed", "id": "23933705", "url": "https://glygen.org/publication/PubMed/23933705" }, { "database": "PubMed", "id": "23951353", "url": "https://glygen.org/publication/PubMed/23951353" }, { "database": "PubMed", "id": "23953418", "url": "https://glygen.org/publication/PubMed/23953418" }, { "database": "PubMed", "id": "23958999", "url": "https://glygen.org/publication/PubMed/23958999" }, { "database": "PubMed", "id": "23976954", "url": "https://glygen.org/publication/PubMed/23976954" }, { "database": "PubMed", "id": "23979601", "url": "https://glygen.org/publication/PubMed/23979601" }, { "database": "PubMed", "id": "23979838", "url": "https://glygen.org/publication/PubMed/23979838" }, { "database": "PubMed", "id": "23989949", "url": "https://glygen.org/publication/PubMed/23989949" }, { "database": "PubMed", "id": "24006489", "url": "https://glygen.org/publication/PubMed/24006489" }, { "database": "PubMed", "id": "24018125", "url": "https://glygen.org/publication/PubMed/24018125" }, { "database": "PubMed", "id": "24018901", "url": "https://glygen.org/publication/PubMed/24018901" }, { "database": "PubMed", "id": "24023012", "url": "https://glygen.org/publication/PubMed/24023012" }, { "database": "PubMed", "id": "24023938", "url": "https://glygen.org/publication/PubMed/24023938" }, { "database": "PubMed", "id": "24053672", "url": "https://glygen.org/publication/PubMed/24053672" }, { "database": "PubMed", "id": "24057571", "url": "https://glygen.org/publication/PubMed/24057571" }, { "database": "PubMed", "id": "24073922", "url": "https://glygen.org/publication/PubMed/24073922" }, { "database": "PubMed", "id": "24091816", "url": "https://glygen.org/publication/PubMed/24091816" }, { "database": "PubMed", "id": "24107614", "url": "https://glygen.org/publication/PubMed/24107614" }, { "database": "PubMed", "id": "24113173", "url": "https://glygen.org/publication/PubMed/24113173" }, { "database": "PubMed", "id": "24117074", "url": "https://glygen.org/publication/PubMed/24117074" }, { "database": "PubMed", "id": "24169049", "url": "https://glygen.org/publication/PubMed/24169049" }, { "database": "PubMed", "id": "24175297", "url": "https://glygen.org/publication/PubMed/24175297" }, { "database": "PubMed", "id": "24176845", "url": "https://glygen.org/publication/PubMed/24176845" }, { "database": "PubMed", "id": "24188406", "url": "https://glygen.org/publication/PubMed/24188406" }, { "database": "PubMed", "id": "24217713", "url": "https://glygen.org/publication/PubMed/24217713" }, { "database": "PubMed", "id": "24232099", "url": "https://glygen.org/publication/PubMed/24232099" }, { "database": "PubMed", "id": "24236150", "url": "https://glygen.org/publication/PubMed/24236150" }, { "database": "PubMed", "id": "24247980", "url": "https://glygen.org/publication/PubMed/24247980" }, { "database": "PubMed", "id": "24260384", "url": "https://glygen.org/publication/PubMed/24260384" }, { "database": "PubMed", "id": "24273605", "url": "https://glygen.org/publication/PubMed/24273605" }, { "database": "PubMed", "id": "24280348", "url": "https://glygen.org/publication/PubMed/24280348" }, { "database": "PubMed", "id": "24312263", "url": "https://glygen.org/publication/PubMed/24312263" }, { "database": "PubMed", "id": "24317467", "url": "https://glygen.org/publication/PubMed/24317467" }, { "database": "PubMed", "id": "24325618", "url": "https://glygen.org/publication/PubMed/24325618" }, { "database": "PubMed", "id": "24349321", "url": "https://glygen.org/publication/PubMed/24349321" }, { "database": "PubMed", "id": "24352480", "url": "https://glygen.org/publication/PubMed/24352480" }, { "database": "PubMed", "id": "24358196", "url": "https://glygen.org/publication/PubMed/24358196" }, { "database": "PubMed", "id": "24365180", "url": "https://glygen.org/publication/PubMed/24365180" }, { "database": "PubMed", "id": "24372645", "url": "https://glygen.org/publication/PubMed/24372645" }, { "database": "PubMed", "id": "24374242", "url": "https://glygen.org/publication/PubMed/24374242" }, { "database": "PubMed", "id": "24377058", "url": "https://glygen.org/publication/PubMed/24377058" }, { "database": "PubMed", "id": "24392034", "url": "https://glygen.org/publication/PubMed/24392034" }, { "database": "PubMed", "id": "24413065", "url": "https://glygen.org/publication/PubMed/24413065" }, { "database": "PubMed", "id": "24416349", "url": "https://glygen.org/publication/PubMed/24416349" }, { "database": "PubMed", "id": "24418989", "url": "https://glygen.org/publication/PubMed/24418989" }, { "database": "PubMed", "id": "24428908", "url": "https://glygen.org/publication/PubMed/24428908" }, { "database": "PubMed", "id": "24446434", "url": "https://glygen.org/publication/PubMed/24446434" }, { "database": "PubMed", "id": "24448490", "url": "https://glygen.org/publication/PubMed/24448490" }, { "database": "PubMed", "id": "24454800", "url": "https://glygen.org/publication/PubMed/24454800" }, { "database": "PubMed", "id": "24456610", "url": "https://glygen.org/publication/PubMed/24456610" }, { "database": "PubMed", "id": "24467442", "url": "https://glygen.org/publication/PubMed/24467442" }, { "database": "PubMed", "id": "24516643", "url": "https://glygen.org/publication/PubMed/24516643" }, { "database": "PubMed", "id": "24558442", "url": "https://glygen.org/publication/PubMed/24558442" }, { "database": "PubMed", "id": "24561239", "url": "https://glygen.org/publication/PubMed/24561239" }, { "database": "PubMed", "id": "24581231", "url": "https://glygen.org/publication/PubMed/24581231" }, { "database": "PubMed", "id": "24585214", "url": "https://glygen.org/publication/PubMed/24585214" }, { "database": "PubMed", "id": "24611062", "url": "https://glygen.org/publication/PubMed/24611062" }, { "database": "PubMed", "id": "24615340", "url": "https://glygen.org/publication/PubMed/24615340" }, { "database": "PubMed", "id": "24618420", "url": "https://glygen.org/publication/PubMed/24618420" }, { "database": "PubMed", "id": "24622734", "url": "https://glygen.org/publication/PubMed/24622734" }, { "database": "PubMed", "id": "24625973", "url": "https://glygen.org/publication/PubMed/24625973" }, { "database": "PubMed", "id": "24654606", "url": "https://glygen.org/publication/PubMed/24654606" }, { "database": "PubMed", "id": "24666281", "url": "https://glygen.org/publication/PubMed/24666281" }, { "database": "PubMed", "id": "24670043", "url": "https://glygen.org/publication/PubMed/24670043" }, { "database": "PubMed", "id": "24705275", "url": "https://glygen.org/publication/PubMed/24705275" }, { "database": "PubMed", "id": "24797432", "url": "https://glygen.org/publication/PubMed/24797432" }, { "database": "PubMed", "id": "24797434", "url": "https://glygen.org/publication/PubMed/24797434" }, { "database": "PubMed", "id": "24816687", "url": "https://glygen.org/publication/PubMed/24816687" }, { "database": "PubMed", "id": "24900620", "url": "https://glygen.org/publication/PubMed/24900620" }, { "database": "PubMed", "id": "24927123", "url": "https://glygen.org/publication/PubMed/24927123" }, { "database": "PubMed", "id": "24933731", "url": "https://glygen.org/publication/PubMed/24933731" }, { "database": "PubMed", "id": "24952732", "url": "https://glygen.org/publication/PubMed/24952732" }, { "database": "PubMed", "id": "24979261", "url": "https://glygen.org/publication/PubMed/24979261" }, { "database": "PubMed", "id": "24992302", "url": "https://glygen.org/publication/PubMed/24992302" }, { "database": "PubMed", "id": "25026292", "url": "https://glygen.org/publication/PubMed/25026292" }, { "database": "PubMed", "id": "25028121", "url": "https://glygen.org/publication/PubMed/25028121" }, { "database": "PubMed", "id": "25098276", "url": "https://glygen.org/publication/PubMed/25098276" }, { "database": "PubMed", "id": "25136826", "url": "https://glygen.org/publication/PubMed/25136826" }, { "database": "PubMed", "id": "25153728", "url": "https://glygen.org/publication/PubMed/25153728" }, { "database": "PubMed", "id": "25177796", "url": "https://glygen.org/publication/PubMed/25177796" }, { "database": "PubMed", "id": "25196260", "url": "https://glygen.org/publication/PubMed/25196260" }, { "database": "PubMed", "id": "25212826", "url": "https://glygen.org/publication/PubMed/25212826" }, { "database": "PubMed", "id": "25228590", "url": "https://glygen.org/publication/PubMed/25228590" }, { "database": "PubMed", "id": "25231727", "url": "https://glygen.org/publication/PubMed/25231727" }, { "database": "PubMed", "id": "25243186", "url": "https://glygen.org/publication/PubMed/25243186" }, { "database": "PubMed", "id": "25247416", "url": "https://glygen.org/publication/PubMed/25247416" }, { "database": "PubMed", "id": "25273559", "url": "https://glygen.org/publication/PubMed/25273559" }, { "database": "PubMed", "id": "25296502", "url": "https://glygen.org/publication/PubMed/25296502" }, { "database": "PubMed", "id": "25306901", "url": "https://glygen.org/publication/PubMed/25306901" }, { "database": "PubMed", "id": "25311506", "url": "https://glygen.org/publication/PubMed/25311506" }, { "database": "PubMed", "id": "25313141", "url": "https://glygen.org/publication/PubMed/25313141" }, { "database": "PubMed", "id": "25352995", "url": "https://glygen.org/publication/PubMed/25352995" }, { "database": "PubMed", "id": "25355053", "url": "https://glygen.org/publication/PubMed/25355053" }, { "database": "PubMed", "id": "25375133", "url": "https://glygen.org/publication/PubMed/25375133" }, { "database": "PubMed", "id": "25385184", "url": "https://glygen.org/publication/PubMed/25385184" }, { "database": "PubMed", "id": "25388642", "url": "https://glygen.org/publication/PubMed/25388642" }, { "database": "PubMed", "id": "25392303", "url": "https://glygen.org/publication/PubMed/25392303" }, { "database": "PubMed", "id": "25424429", "url": "https://glygen.org/publication/PubMed/25424429" }, { "database": "PubMed", "id": "25424831", "url": "https://glygen.org/publication/PubMed/25424831" }, { "database": "PubMed", "id": "25432075", "url": "https://glygen.org/publication/PubMed/25432075" }, { "database": "PubMed", "id": "25454348", "url": "https://glygen.org/publication/PubMed/25454348" }, { "database": "PubMed", "id": "25483727", "url": "https://glygen.org/publication/PubMed/25483727" }, { "database": "PubMed", "id": "25528216", "url": "https://glygen.org/publication/PubMed/25528216" }, { "database": "PubMed", "id": "25531880", "url": "https://glygen.org/publication/PubMed/25531880" }, { "database": "PubMed", "id": "25551293", "url": "https://glygen.org/publication/PubMed/25551293" }, { "database": "PubMed", "id": "25564612", "url": "https://glygen.org/publication/PubMed/25564612" }, { "database": "PubMed", "id": "25569101", "url": "https://glygen.org/publication/PubMed/25569101" }, { "database": "PubMed", "id": "25569743", "url": "https://glygen.org/publication/PubMed/25569743" }, { "database": "PubMed", "id": "25575302", "url": "https://glygen.org/publication/PubMed/25575302" }, { "database": "PubMed", "id": "25592318", "url": "https://glygen.org/publication/PubMed/25592318" }, { "database": "PubMed", "id": "25596739", "url": "https://glygen.org/publication/PubMed/25596739" }, { "database": "PubMed", "id": "25611382", "url": "https://glygen.org/publication/PubMed/25611382" }, { "database": "PubMed", "id": "25622969", "url": "https://glygen.org/publication/PubMed/25622969" }, { "database": "PubMed", "id": "25624750", "url": "https://glygen.org/publication/PubMed/25624750" }, { "database": "PubMed", "id": "25639875", "url": "https://glygen.org/publication/PubMed/25639875" }, { "database": "PubMed", "id": "25640278", "url": "https://glygen.org/publication/PubMed/25640278" }, { "database": "PubMed", "id": "25654224", "url": "https://glygen.org/publication/PubMed/25654224" }, { "database": "PubMed", "id": "25678401", "url": "https://glygen.org/publication/PubMed/25678401" }, { "database": "PubMed", "id": "25688212", "url": "https://glygen.org/publication/PubMed/25688212" }, { "database": "PubMed", "id": "25714596", "url": "https://glygen.org/publication/PubMed/25714596" }, { "database": "PubMed", "id": "25719244", "url": "https://glygen.org/publication/PubMed/25719244" }, { "database": "PubMed", "id": "25722288", "url": "https://glygen.org/publication/PubMed/25722288" }, { "database": "PubMed", "id": "25749514", "url": "https://glygen.org/publication/PubMed/25749514" }, { "database": "PubMed", "id": "25761241", "url": "https://glygen.org/publication/PubMed/25761241" }, { "database": "PubMed", "id": "25767601", "url": "https://glygen.org/publication/PubMed/25767601" }, { "database": "PubMed", "id": "25784113", "url": "https://glygen.org/publication/PubMed/25784113" }, { "database": "PubMed", "id": "25792811", "url": "https://glygen.org/publication/PubMed/25792811" }, { "database": "PubMed", "id": "25793983", "url": "https://glygen.org/publication/PubMed/25793983" }, { "database": "PubMed", "id": "25838434", "url": "https://glygen.org/publication/PubMed/25838434" }, { "database": "PubMed", "id": "25849580", "url": "https://glygen.org/publication/PubMed/25849580" }, { "database": "PubMed", "id": "25858425", "url": "https://glygen.org/publication/PubMed/25858425" }, { "database": "PubMed", "id": "25876175", "url": "https://glygen.org/publication/PubMed/25876175" }, { "database": "PubMed", "id": "25880247", "url": "https://glygen.org/publication/PubMed/25880247" }, { "database": "PubMed", "id": "25889839", "url": "https://glygen.org/publication/PubMed/25889839" }, { "database": "PubMed", "id": "25912234", "url": "https://glygen.org/publication/PubMed/25912234" }, { "database": "PubMed", "id": "25915946", "url": "https://glygen.org/publication/PubMed/25915946" }, { "database": "PubMed", "id": "25925728", "url": "https://glygen.org/publication/PubMed/25925728" }, { "database": "PubMed", "id": "25961827", "url": "https://glygen.org/publication/PubMed/25961827" }, { "database": "PubMed", "id": "25965345", "url": "https://glygen.org/publication/PubMed/25965345" }, { "database": "PubMed", "id": "25965823", "url": "https://glygen.org/publication/PubMed/25965823" }, { "database": "PubMed", "id": "25970784", "url": "https://glygen.org/publication/PubMed/25970784" }, { "database": "PubMed", "id": "25974307", "url": "https://glygen.org/publication/PubMed/25974307" }, { "database": "PubMed", "id": "25980493", "url": "https://glygen.org/publication/PubMed/25980493" }, { "database": "PubMed", "id": "25997832", "url": "https://glygen.org/publication/PubMed/25997832" }, { "database": "PubMed", "id": "25999352", "url": "https://glygen.org/publication/PubMed/25999352" }, { "database": "PubMed", "id": "26023089", "url": "https://glygen.org/publication/PubMed/26023089" }, { "database": "PubMed", "id": "26025205", "url": "https://glygen.org/publication/PubMed/26025205" }, { "database": "PubMed", "id": "26033966", "url": "https://glygen.org/publication/PubMed/26033966" }, { "database": "PubMed", "id": "26046303", "url": "https://glygen.org/publication/PubMed/26046303" }, { "database": "PubMed", "id": "26065894", "url": "https://glygen.org/publication/PubMed/26065894" }, { "database": "PubMed", "id": "26073086", "url": "https://glygen.org/publication/PubMed/26073086" }, { "database": "PubMed", "id": "26076587", "url": "https://glygen.org/publication/PubMed/26076587" }, { "database": "PubMed", "id": "26110849", "url": "https://glygen.org/publication/PubMed/26110849" }, { "database": "PubMed", "id": "26111001", "url": "https://glygen.org/publication/PubMed/26111001" }, { "database": "PubMed", "id": "26121251", "url": "https://glygen.org/publication/PubMed/26121251" }, { "database": "PubMed", "id": "26124182", "url": "https://glygen.org/publication/PubMed/26124182" }, { "database": "PubMed", "id": "26130968", "url": "https://glygen.org/publication/PubMed/26130968" }, { "database": "PubMed", "id": "26137449", "url": "https://glygen.org/publication/PubMed/26137449" }, { "database": "PubMed", "id": "26137586", "url": "https://glygen.org/publication/PubMed/26137586" }, { "database": "PubMed", "id": "26178819", "url": "https://glygen.org/publication/PubMed/26178819" }, { "database": "PubMed", "id": "26201515", "url": "https://glygen.org/publication/PubMed/26201515" }, { "database": "PubMed", "id": "26204252", "url": "https://glygen.org/publication/PubMed/26204252" }, { "database": "PubMed", "id": "26235620", "url": "https://glygen.org/publication/PubMed/26235620" }, { "database": "PubMed", "id": "26241708", "url": "https://glygen.org/publication/PubMed/26241708" }, { "database": "PubMed", "id": "26243309", "url": "https://glygen.org/publication/PubMed/26243309" }, { "database": "PubMed", "id": "26244501", "url": "https://glygen.org/publication/PubMed/26244501" }, { "database": "PubMed", "id": "26245346", "url": "https://glygen.org/publication/PubMed/26245346" }, { "database": "PubMed", "id": "26247730", "url": "https://glygen.org/publication/PubMed/26247730" }, { "database": "PubMed", "id": "26290457", "url": "https://glygen.org/publication/PubMed/26290457" }, { "database": "PubMed", "id": "26313911", "url": "https://glygen.org/publication/PubMed/26313911" }, { "database": "PubMed", "id": "26317547", "url": "https://glygen.org/publication/PubMed/26317547" }, { "database": "PubMed", "id": "26345496", "url": "https://glygen.org/publication/PubMed/26345496" }, { "database": "PubMed", "id": "26356562", "url": "https://glygen.org/publication/PubMed/26356562" }, { "database": "PubMed", "id": "26378810", "url": "https://glygen.org/publication/PubMed/26378810" }, { "database": "PubMed", "id": "26402468", "url": "https://glygen.org/publication/PubMed/26402468" }, { "database": "PubMed", "id": "26408176", "url": "https://glygen.org/publication/PubMed/26408176" }, { "database": "PubMed", "id": "26415504", "url": "https://glygen.org/publication/PubMed/26415504" }, { "database": "PubMed", "id": "26437242", "url": "https://glygen.org/publication/PubMed/26437242" }, { "database": "PubMed", "id": "26440416", "url": "https://glygen.org/publication/PubMed/26440416" }, { "database": "PubMed", "id": "26465359", "url": "https://glygen.org/publication/PubMed/26465359" }, { "database": "PubMed", "id": "26485768", "url": "https://glygen.org/publication/PubMed/26485768" }, { "database": "PubMed", "id": "26497682", "url": "https://glygen.org/publication/PubMed/26497682" }, { "database": "PubMed", "id": "26506516", "url": "https://glygen.org/publication/PubMed/26506516" }, { "database": "PubMed", "id": "26514724", "url": "https://glygen.org/publication/PubMed/26514724" }, { "database": "PubMed", "id": "26517508", "url": "https://glygen.org/publication/PubMed/26517508" }, { "database": "PubMed", "id": "26517515", "url": "https://glygen.org/publication/PubMed/26517515" }, { "database": "PubMed", "id": "26528819", "url": "https://glygen.org/publication/PubMed/26528819" }, { "database": "PubMed", "id": "26535060", "url": "https://glygen.org/publication/PubMed/26535060" }, { "database": "PubMed", "id": "26551880", "url": "https://glygen.org/publication/PubMed/26551880" }, { "database": "PubMed", "id": "26557719", "url": "https://glygen.org/publication/PubMed/26557719" }, { "database": "PubMed", "id": "26600389", "url": "https://glygen.org/publication/PubMed/26600389" }, { "database": "PubMed", "id": "26607178", "url": "https://glygen.org/publication/PubMed/26607178" }, { "database": "PubMed", "id": "26613407", "url": "https://glygen.org/publication/PubMed/26613407" }, { "database": "PubMed", "id": "26646023", "url": "https://glygen.org/publication/PubMed/26646023" }, { "database": "PubMed", "id": "26657992", "url": "https://glygen.org/publication/PubMed/26657992" }, { "database": "PubMed", "id": "26682007", "url": "https://glygen.org/publication/PubMed/26682007" }, { "database": "PubMed", "id": "26711788", "url": "https://glygen.org/publication/PubMed/26711788" }, { "database": "PubMed", "id": "26741489", "url": "https://glygen.org/publication/PubMed/26741489" }, { "database": "PubMed", "id": "26746999", "url": "https://glygen.org/publication/PubMed/26746999" }, { "database": "PubMed", "id": "26751215", "url": "https://glygen.org/publication/PubMed/26751215" }, { "database": "PubMed", "id": "26801686", "url": "https://glygen.org/publication/PubMed/26801686" }, { "database": "PubMed", "id": "26821351", "url": "https://glygen.org/publication/PubMed/26821351" }, { "database": "PubMed", "id": "26824321", "url": "https://glygen.org/publication/PubMed/26824321" }, { "database": "PubMed", "id": "26832662", "url": "https://glygen.org/publication/PubMed/26832662" }, { "database": "PubMed", "id": "26846144", "url": "https://glygen.org/publication/PubMed/26846144" }, { "database": "PubMed", "id": "26848620", "url": "https://glygen.org/publication/PubMed/26848620" }, { "database": "PubMed", "id": "26852666", "url": "https://glygen.org/publication/PubMed/26852666" }, { "database": "PubMed", "id": "26891914", "url": "https://glygen.org/publication/PubMed/26891914" }, { "database": "PubMed", "id": "26903300", "url": "https://glygen.org/publication/PubMed/26903300" }, { "database": "PubMed", "id": "26910892", "url": "https://glygen.org/publication/PubMed/26910892" }, { "database": "PubMed", "id": "26913805", "url": "https://glygen.org/publication/PubMed/26913805" }, { "database": "PubMed", "id": "26919095", "url": "https://glygen.org/publication/PubMed/26919095" }, { "database": "PubMed", "id": "26919103", "url": "https://glygen.org/publication/PubMed/26919103" }, { "database": "PubMed", "id": "26934000", "url": "https://glygen.org/publication/PubMed/26934000" }, { "database": "PubMed", "id": "26934444", "url": "https://glygen.org/publication/PubMed/26934444" }, { "database": "PubMed", "id": "26940018", "url": "https://glygen.org/publication/PubMed/26940018" }, { "database": "PubMed", "id": "26942872", "url": "https://glygen.org/publication/PubMed/26942872" }, { "database": "PubMed", "id": "26945062", "url": "https://glygen.org/publication/PubMed/26945062" }, { "database": "PubMed", "id": "26959555", "url": "https://glygen.org/publication/PubMed/26959555" }, { "database": "PubMed", "id": "26967055", "url": "https://glygen.org/publication/PubMed/26967055" }, { "database": "PubMed", "id": "26974310", "url": "https://glygen.org/publication/PubMed/26974310" }, { "database": "PubMed", "id": "26988603", "url": "https://glygen.org/publication/PubMed/26988603" }, { "database": "PubMed", "id": "27004402", "url": "https://glygen.org/publication/PubMed/27004402" }, { "database": "PubMed", "id": "27004406", "url": "https://glygen.org/publication/PubMed/27004406" }, { "database": "PubMed", "id": "27009203", "url": "https://glygen.org/publication/PubMed/27009203" }, { "database": "PubMed", "id": "27015152", "url": "https://glygen.org/publication/PubMed/27015152" }, { "database": "PubMed", "id": "27026523", "url": "https://glygen.org/publication/PubMed/27026523" }, { "database": "PubMed", "id": "27027448", "url": "https://glygen.org/publication/PubMed/27027448" }, { "database": "PubMed", "id": "27047993", "url": "https://glygen.org/publication/PubMed/27047993" }, { "database": "PubMed", "id": "27053161", "url": "https://glygen.org/publication/PubMed/27053161" }, { "database": "PubMed", "id": "27074558", "url": "https://glygen.org/publication/PubMed/27074558" }, { "database": "PubMed", "id": "27076174", "url": "https://glygen.org/publication/PubMed/27076174" }, { "database": "PubMed", "id": "27099352", "url": "https://glygen.org/publication/PubMed/27099352" }, { "database": "PubMed", "id": "27102434", "url": "https://glygen.org/publication/PubMed/27102434" }, { "database": "PubMed", "id": "27102439", "url": "https://glygen.org/publication/PubMed/27102439" }, { "database": "PubMed", "id": "27137757", "url": "https://glygen.org/publication/PubMed/27137757" }, { "database": "PubMed", "id": "27147579", "url": "https://glygen.org/publication/PubMed/27147579" }, { "database": "PubMed", "id": "27176505", "url": "https://glygen.org/publication/PubMed/27176505" }, { "database": "PubMed", "id": "27187380", "url": "https://glygen.org/publication/PubMed/27187380" }, { "database": "PubMed", "id": "27191994", "url": "https://glygen.org/publication/PubMed/27191994" }, { "database": "PubMed", "id": "27192118", "url": "https://glygen.org/publication/PubMed/27192118" }, { "database": "PubMed", "id": "27207509", "url": "https://glygen.org/publication/PubMed/27207509" }, { "database": "PubMed", "id": "27211495", "url": "https://glygen.org/publication/PubMed/27211495" }, { "database": "PubMed", "id": "27220846", "url": "https://glygen.org/publication/PubMed/27220846" }, { "database": "PubMed", "id": "27239959", "url": "https://glygen.org/publication/PubMed/27239959" }, { "database": "PubMed", "id": "27262235", "url": "https://glygen.org/publication/PubMed/27262235" }, { "database": "PubMed", "id": "27285760", "url": "https://glygen.org/publication/PubMed/27285760" }, { "database": "PubMed", "id": "27294151", "url": "https://glygen.org/publication/PubMed/27294151" }, { "database": "PubMed", "id": "27323778", "url": "https://glygen.org/publication/PubMed/27323778" }, { "database": "PubMed", "id": "27346647", "url": "https://glygen.org/publication/PubMed/27346647" }, { "database": "PubMed", "id": "27385099", "url": "https://glygen.org/publication/PubMed/27385099" }, { "database": "PubMed", "id": "27385333", "url": "https://glygen.org/publication/PubMed/27385333" }, { "database": "PubMed", "id": "27390173", "url": "https://glygen.org/publication/PubMed/27390173" }, { "database": "PubMed", "id": "27391443", "url": "https://glygen.org/publication/PubMed/27391443" }, { "database": "PubMed", "id": "27447863", "url": "https://glygen.org/publication/PubMed/27447863" }, { "database": "PubMed", "id": "27451907", "url": "https://glygen.org/publication/PubMed/27451907" }, { "database": "PubMed", "id": "27465688", "url": "https://glygen.org/publication/PubMed/27465688" }, { "database": "PubMed", "id": "27494022", "url": "https://glygen.org/publication/PubMed/27494022" }, { "database": "PubMed", "id": "27494886", "url": "https://glygen.org/publication/PubMed/27494886" }, { "database": "PubMed", "id": "27494895", "url": "https://glygen.org/publication/PubMed/27494895" }, { "database": "PubMed", "id": "27531894", "url": "https://glygen.org/publication/PubMed/27531894" }, { "database": "PubMed", "id": "27561791", "url": "https://glygen.org/publication/PubMed/27561791" }, { "database": "PubMed", "id": "27566939", "url": "https://glygen.org/publication/PubMed/27566939" }, { "database": "PubMed", "id": "27601656", "url": "https://glygen.org/publication/PubMed/27601656" }, { "database": "PubMed", "id": "27611696", "url": "https://glygen.org/publication/PubMed/27611696" }, { "database": "PubMed", "id": "27622707", "url": "https://glygen.org/publication/PubMed/27622707" }, { "database": "PubMed", "id": "27624942", "url": "https://glygen.org/publication/PubMed/27624942" }, { "database": "PubMed", "id": "27626683", "url": "https://glygen.org/publication/PubMed/27626683" }, { "database": "PubMed", "id": "27627109", "url": "https://glygen.org/publication/PubMed/27627109" }, { "database": "PubMed", "id": "27636107", "url": "https://glygen.org/publication/PubMed/27636107" }, { "database": "PubMed", "id": "27649272", "url": "https://glygen.org/publication/PubMed/27649272" }, { "database": "PubMed", "id": "27659528", "url": "https://glygen.org/publication/PubMed/27659528" }, { "database": "PubMed", "id": "27694961", "url": "https://glygen.org/publication/PubMed/27694961" }, { "database": "PubMed", "id": "27698667", "url": "https://glygen.org/publication/PubMed/27698667" }, { "database": "PubMed", "id": "27763645", "url": "https://glygen.org/publication/PubMed/27763645" }, { "database": "PubMed", "id": "27764189", "url": "https://glygen.org/publication/PubMed/27764189" }, { "database": "PubMed", "id": "27769069", "url": "https://glygen.org/publication/PubMed/27769069" }, { "database": "PubMed", "id": "27807598", "url": "https://glygen.org/publication/PubMed/27807598" }, { "database": "PubMed", "id": "27811362", "url": "https://glygen.org/publication/PubMed/27811362" }, { "database": "PubMed", "id": "27829222", "url": "https://glygen.org/publication/PubMed/27829222" }, { "database": "PubMed", "id": "27894090", "url": "https://glygen.org/publication/PubMed/27894090" }, { "database": "PubMed", "id": "27901111", "url": "https://glygen.org/publication/PubMed/27901111" }, { "database": "PubMed", "id": "27903983", "url": "https://glygen.org/publication/PubMed/27903983" }, { "database": "PubMed", "id": "27903985", "url": "https://glygen.org/publication/PubMed/27903985" }, { "database": "PubMed", "id": "27966531", "url": "https://glygen.org/publication/PubMed/27966531" }, { "database": "PubMed", "id": "28003335", "url": "https://glygen.org/publication/PubMed/28003335" }, { "database": "PubMed", "id": "28035062", "url": "https://glygen.org/publication/PubMed/28035062" }, { "database": "PubMed", "id": "28035333", "url": "https://glygen.org/publication/PubMed/28035333" }, { "database": "PubMed", "id": "28036265", "url": "https://glygen.org/publication/PubMed/28036265" }, { "database": "PubMed", "id": "28061880", "url": "https://glygen.org/publication/PubMed/28061880" }, { "database": "PubMed", "id": "28072855", "url": "https://glygen.org/publication/PubMed/28072855" }, { "database": "PubMed", "id": "28107519", "url": "https://glygen.org/publication/PubMed/28107519" }, { "database": "PubMed", "id": "28112176", "url": "https://glygen.org/publication/PubMed/28112176" }, { "database": "PubMed", "id": "28129639", "url": "https://glygen.org/publication/PubMed/28129639" }, { "database": "PubMed", "id": "28152500", "url": "https://glygen.org/publication/PubMed/28152500" }, { "database": "PubMed", "id": "28179017", "url": "https://glygen.org/publication/PubMed/28179017" }, { "database": "PubMed", "id": "28188308", "url": "https://glygen.org/publication/PubMed/28188308" }, { "database": "PubMed", "id": "28209923", "url": "https://glygen.org/publication/PubMed/28209923" }, { "database": "PubMed", "id": "28218907", "url": "https://glygen.org/publication/PubMed/28218907" }, { "database": "PubMed", "id": "28231291", "url": "https://glygen.org/publication/PubMed/28231291" }, { "database": "PubMed", "id": "28231796", "url": "https://glygen.org/publication/PubMed/28231796" }, { "database": "PubMed", "id": "28232663", "url": "https://glygen.org/publication/PubMed/28232663" }, { "database": "PubMed", "id": "28291820", "url": "https://glygen.org/publication/PubMed/28291820" }, { "database": "PubMed", "id": "28320338", "url": "https://glygen.org/publication/PubMed/28320338" }, { "database": "PubMed", "id": "28332309", "url": "https://glygen.org/publication/PubMed/28332309" }, { "database": "PubMed", "id": "28332553", "url": "https://glygen.org/publication/PubMed/28332553" }, { "database": "PubMed", "id": "28345638", "url": "https://glygen.org/publication/PubMed/28345638" }, { "database": "PubMed", "id": "28349073", "url": "https://glygen.org/publication/PubMed/28349073" }, { "database": "PubMed", "id": "28356941", "url": "https://glygen.org/publication/PubMed/28356941" }, { "database": "PubMed", "id": "28359316", "url": "https://glygen.org/publication/PubMed/28359316" }, { "database": "PubMed", "id": "28371849", "url": "https://glygen.org/publication/PubMed/28371849" }, { "database": "PubMed", "id": "28380463", "url": "https://glygen.org/publication/PubMed/28380463" }, { "database": "PubMed", "id": "28382169", "url": "https://glygen.org/publication/PubMed/28382169" }, { "database": "PubMed", "id": "28398603", "url": "https://glygen.org/publication/PubMed/28398603" }, { "database": "PubMed", "id": "28402933", "url": "https://glygen.org/publication/PubMed/28402933" }, { "database": "PubMed", "id": "28406396", "url": "https://glygen.org/publication/PubMed/28406396" }, { "database": "PubMed", "id": "28410531", "url": "https://glygen.org/publication/PubMed/28410531" }, { "database": "PubMed", "id": "28427860", "url": "https://glygen.org/publication/PubMed/28427860" }, { "database": "PubMed", "id": "28442995", "url": "https://glygen.org/publication/PubMed/28442995" }, { "database": "PubMed", "id": "28445969", "url": "https://glygen.org/publication/PubMed/28445969" }, { "database": "PubMed", "id": "28448438", "url": "https://glygen.org/publication/PubMed/28448438" }, { "database": "PubMed", "id": "28464039", "url": "https://glygen.org/publication/PubMed/28464039" }, { "database": "PubMed", "id": "28465354", "url": "https://glygen.org/publication/PubMed/28465354" }, { "database": "PubMed", "id": "28468326", "url": "https://glygen.org/publication/PubMed/28468326" }, { "database": "PubMed", "id": "28475127", "url": "https://glygen.org/publication/PubMed/28475127" }, { "database": "PubMed", "id": "28484273", "url": "https://glygen.org/publication/PubMed/28484273" }, { "database": "PubMed", "id": "28518144", "url": "https://glygen.org/publication/PubMed/28518144" }, { "database": "PubMed", "id": "28525374", "url": "https://glygen.org/publication/PubMed/28525374" }, { "database": "PubMed", "id": "28535647", "url": "https://glygen.org/publication/PubMed/28535647" }, { "database": "PubMed", "id": "28548645", "url": "https://glygen.org/publication/PubMed/28548645" }, { "database": "PubMed", "id": "28588706", "url": "https://glygen.org/publication/PubMed/28588706" }, { "database": "PubMed", "id": "28593136", "url": "https://glygen.org/publication/PubMed/28593136" }, { "database": "PubMed", "id": "28632938", "url": "https://glygen.org/publication/PubMed/28632938" }, { "database": "PubMed", "id": "28634229", "url": "https://glygen.org/publication/PubMed/28634229" }, { "database": "PubMed", "id": "28659580", "url": "https://glygen.org/publication/PubMed/28659580" }, { "database": "PubMed", "id": "28664914", "url": "https://glygen.org/publication/PubMed/28664914" }, { "database": "PubMed", "id": "28673204", "url": "https://glygen.org/publication/PubMed/28673204" }, { "database": "PubMed", "id": "28674187", "url": "https://glygen.org/publication/PubMed/28674187" }, { "database": "PubMed", "id": "28675026", "url": "https://glygen.org/publication/PubMed/28675026" }, { "database": "PubMed", "id": "28680159", "url": "https://glygen.org/publication/PubMed/28680159" }, { "database": "PubMed", "id": "28691365", "url": "https://glygen.org/publication/PubMed/28691365" }, { "database": "PubMed", "id": "28694518", "url": "https://glygen.org/publication/PubMed/28694518" }, { "database": "PubMed", "id": "28698260", "url": "https://glygen.org/publication/PubMed/28698260" }, { "database": "PubMed", "id": "28699701", "url": "https://glygen.org/publication/PubMed/28699701" }, { "database": "PubMed", "id": "28700668", "url": "https://glygen.org/publication/PubMed/28700668" }, { "database": "PubMed", "id": "28701722", "url": "https://glygen.org/publication/PubMed/28701722" }, { "database": "PubMed", "id": "28701787", "url": "https://glygen.org/publication/PubMed/28701787" }, { "database": "PubMed", "id": "28704499", "url": "https://glygen.org/publication/PubMed/28704499" }, { "database": "PubMed", "id": "28729699", "url": "https://glygen.org/publication/PubMed/28729699" }, { "database": "PubMed", "id": "28771224", "url": "https://glygen.org/publication/PubMed/28771224" }, { "database": "PubMed", "id": "28790888", "url": "https://glygen.org/publication/PubMed/28790888" }, { "database": "PubMed", "id": "28814745", "url": "https://glygen.org/publication/PubMed/28814745" }, { "database": "PubMed", "id": "28833338", "url": "https://glygen.org/publication/PubMed/28833338" }, { "database": "PubMed", "id": "28881794", "url": "https://glygen.org/publication/PubMed/28881794" }, { "database": "PubMed", "id": "28883547", "url": "https://glygen.org/publication/PubMed/28883547" }, { "database": "PubMed", "id": "28915272", "url": "https://glygen.org/publication/PubMed/28915272" }, { "database": "PubMed", "id": "28915595", "url": "https://glygen.org/publication/PubMed/28915595" }, { "database": "PubMed", "id": "28916818", "url": "https://glygen.org/publication/PubMed/28916818" }, { "database": "PubMed", "id": "28924391", "url": "https://glygen.org/publication/PubMed/28924391" }, { "database": "PubMed", "id": "28934926", "url": "https://glygen.org/publication/PubMed/28934926" }, { "database": "PubMed", "id": "28938574", "url": "https://glygen.org/publication/PubMed/28938574" }, { "database": "PubMed", "id": "28960945", "url": "https://glygen.org/publication/PubMed/28960945" }, { "database": "PubMed", "id": "28962326", "url": "https://glygen.org/publication/PubMed/28962326" }, { "database": "PubMed", "id": "28978070", "url": "https://glygen.org/publication/PubMed/28978070" }, { "database": "PubMed", "id": "28982149", "url": "https://glygen.org/publication/PubMed/28982149" }, { "database": "PubMed", "id": "28982851", "url": "https://glygen.org/publication/PubMed/28982851" }, { "database": "PubMed", "id": "28987868", "url": "https://glygen.org/publication/PubMed/28987868" }, { "database": "PubMed", "id": "28991258", "url": "https://glygen.org/publication/PubMed/28991258" }, { "database": "PubMed", "id": "29017516", "url": "https://glygen.org/publication/PubMed/29017516" }, { "database": "PubMed", "id": "29017592", "url": "https://glygen.org/publication/PubMed/29017592" }, { "database": "PubMed", "id": "29039440", "url": "https://glygen.org/publication/PubMed/29039440" }, { "database": "PubMed", "id": "29050229", "url": "https://glygen.org/publication/PubMed/29050229" }, { "database": "PubMed", "id": "29078297", "url": "https://glygen.org/publication/PubMed/29078297" }, { "database": "PubMed", "id": "29113312", "url": "https://glygen.org/publication/PubMed/29113312" }, { "database": "PubMed", "id": "29134198", "url": "https://glygen.org/publication/PubMed/29134198" }, { "database": "PubMed", "id": "29147235", "url": "https://glygen.org/publication/PubMed/29147235" }, { "database": "PubMed", "id": "29150437", "url": "https://glygen.org/publication/PubMed/29150437" }, { "database": "PubMed", "id": "29156676", "url": "https://glygen.org/publication/PubMed/29156676" }, { "database": "PubMed", "id": "29156708", "url": "https://glygen.org/publication/PubMed/29156708" }, { "database": "PubMed", "id": "29170452", "url": "https://glygen.org/publication/PubMed/29170452" }, { "database": "PubMed", "id": "29172268", "url": "https://glygen.org/publication/PubMed/29172268" }, { "database": "PubMed", "id": "29221176", "url": "https://glygen.org/publication/PubMed/29221176" }, { "database": "PubMed", "id": "29254199", "url": "https://glygen.org/publication/PubMed/29254199" }, { "database": "PubMed", "id": "29254208", "url": "https://glygen.org/publication/PubMed/29254208" }, { "database": "PubMed", "id": "29269867", "url": "https://glygen.org/publication/PubMed/29269867" }, { "database": "PubMed", "id": "29285315", "url": "https://glygen.org/publication/PubMed/29285315" }, { "database": "PubMed", "id": "29335246", "url": "https://glygen.org/publication/PubMed/29335246" }, { "database": "PubMed", "id": "29355935", "url": "https://glygen.org/publication/PubMed/29355935" }, { "database": "PubMed", "id": "29357370", "url": "https://glygen.org/publication/PubMed/29357370" }, { "database": "PubMed", "id": "29361539", "url": "https://glygen.org/publication/PubMed/29361539" }, { "database": "PubMed", "id": "29396506", "url": "https://glygen.org/publication/PubMed/29396506" }, { "database": "PubMed", "id": "29423104", "url": "https://glygen.org/publication/PubMed/29423104" }, { "database": "PubMed", "id": "29423932", "url": "https://glygen.org/publication/PubMed/29423932" }, { "database": "PubMed", "id": "29426295", "url": "https://glygen.org/publication/PubMed/29426295" }, { "database": "PubMed", "id": "29434218", "url": "https://glygen.org/publication/PubMed/29434218" }, { "database": "PubMed", "id": "29434840", "url": "https://glygen.org/publication/PubMed/29434840" }, { "database": "PubMed", "id": "29435164", "url": "https://glygen.org/publication/PubMed/29435164" }, { "database": "PubMed", "id": "29439494", "url": "https://glygen.org/publication/PubMed/29439494" }, { "database": "PubMed", "id": "29440989", "url": "https://glygen.org/publication/PubMed/29440989" }, { "database": "PubMed", "id": "29470540", "url": "https://glygen.org/publication/PubMed/29470540" }, { "database": "PubMed", "id": "29476223", "url": "https://glygen.org/publication/PubMed/29476223" }, { "database": "PubMed", "id": "29482651", "url": "https://glygen.org/publication/PubMed/29482651" }, { "database": "PubMed", "id": "29484131", "url": "https://glygen.org/publication/PubMed/29484131" }, { "database": "PubMed", "id": "29507656", "url": "https://glygen.org/publication/PubMed/29507656" }, { "database": "PubMed", "id": "29507660", "url": "https://glygen.org/publication/PubMed/29507660" }, { "database": "PubMed", "id": "29514603", "url": "https://glygen.org/publication/PubMed/29514603" }, { "database": "PubMed", "id": "29523594", "url": "https://glygen.org/publication/PubMed/29523594" }, { "database": "PubMed", "id": "29535821", "url": "https://glygen.org/publication/PubMed/29535821" }, { "database": "PubMed", "id": "29549527", "url": "https://glygen.org/publication/PubMed/29549527" }, { "database": "PubMed", "id": "29552308", "url": "https://glygen.org/publication/PubMed/29552308" }, { "database": "PubMed", "id": "29560097", "url": "https://glygen.org/publication/PubMed/29560097" }, { "database": "PubMed", "id": "29563926", "url": "https://glygen.org/publication/PubMed/29563926" }, { "database": "PubMed", "id": "29581834", "url": "https://glygen.org/publication/PubMed/29581834" }, { "database": "PubMed", "id": "29632185", "url": "https://glygen.org/publication/PubMed/29632185" }, { "database": "PubMed", "id": "29652795", "url": "https://glygen.org/publication/PubMed/29652795" }, { "database": "PubMed", "id": "29670523", "url": "https://glygen.org/publication/PubMed/29670523" }, { "database": "PubMed", "id": "29674727", "url": "https://glygen.org/publication/PubMed/29674727" }, { "database": "PubMed", "id": "29691342", "url": "https://glygen.org/publication/PubMed/29691342" }, { "database": "PubMed", "id": "29728125", "url": "https://glygen.org/publication/PubMed/29728125" }, { "database": "PubMed", "id": "29728594", "url": "https://glygen.org/publication/PubMed/29728594" }, { "database": "PubMed", "id": "29737572", "url": "https://glygen.org/publication/PubMed/29737572" }, { "database": "PubMed", "id": "29743977", "url": "https://glygen.org/publication/PubMed/29743977" }, { "database": "PubMed", "id": "29749659", "url": "https://glygen.org/publication/PubMed/29749659" }, { "database": "PubMed", "id": "29754406", "url": "https://glygen.org/publication/PubMed/29754406" }, { "database": "PubMed", "id": "29786666", "url": "https://glygen.org/publication/PubMed/29786666" }, { "database": "PubMed", "id": "29799846", "url": "https://glygen.org/publication/PubMed/29799846" }, { "database": "PubMed", "id": "29805559", "url": "https://glygen.org/publication/PubMed/29805559" }, { "database": "PubMed", "id": "29844385", "url": "https://glygen.org/publication/PubMed/29844385" }, { "database": "PubMed", "id": "29872222", "url": "https://glygen.org/publication/PubMed/29872222" }, { "database": "PubMed", "id": "29895328", "url": "https://glygen.org/publication/PubMed/29895328" }, { "database": "PubMed", "id": "29899706", "url": "https://glygen.org/publication/PubMed/29899706" }, { "database": "PubMed", "id": "29921293", "url": "https://glygen.org/publication/PubMed/29921293" }, { "database": "PubMed", "id": "29930759", "url": "https://glygen.org/publication/PubMed/29930759" }, { "database": "PubMed", "id": "29967343", "url": "https://glygen.org/publication/PubMed/29967343" }, { "database": "PubMed", "id": "29970878", "url": "https://glygen.org/publication/PubMed/29970878" }, { "database": "PubMed", "id": "29973512", "url": "https://glygen.org/publication/PubMed/29973512" }, { "database": "PubMed", "id": "30015961", "url": "https://glygen.org/publication/PubMed/30015961" }, { "database": "PubMed", "id": "30021163", "url": "https://glygen.org/publication/PubMed/30021163" }, { "database": "PubMed", "id": "30021848", "url": "https://glygen.org/publication/PubMed/30021848" }, { "database": "PubMed", "id": "30038704", "url": "https://glygen.org/publication/PubMed/30038704" }, { "database": "PubMed", "id": "30038706", "url": "https://glygen.org/publication/PubMed/30038706" }, { "database": "PubMed", "id": "30063851", "url": "https://glygen.org/publication/PubMed/30063851" }, { "database": "PubMed", "id": "30098579", "url": "https://glygen.org/publication/PubMed/30098579" }, { "database": "PubMed", "id": "30154548", "url": "https://glygen.org/publication/PubMed/30154548" }, { "database": "PubMed", "id": "30181250", "url": "https://glygen.org/publication/PubMed/30181250" }, { "database": "PubMed", "id": "30205513", "url": "https://glygen.org/publication/PubMed/30205513" }, { "database": "PubMed", "id": "30230030", "url": "https://glygen.org/publication/PubMed/30230030" }, { "database": "PubMed", "id": "30242159", "url": "https://glygen.org/publication/PubMed/30242159" }, { "database": "PubMed", "id": "30245957", "url": "https://glygen.org/publication/PubMed/30245957" }, { "database": "PubMed", "id": "30266989", "url": "https://glygen.org/publication/PubMed/30266989" }, { "database": "PubMed", "id": "30337563", "url": "https://glygen.org/publication/PubMed/30337563" }, { "database": "PubMed", "id": "30337688", "url": "https://glygen.org/publication/PubMed/30337688" }, { "database": "PubMed", "id": "30355958", "url": "https://glygen.org/publication/PubMed/30355958" }, { "database": "PubMed", "id": "30388826", "url": "https://glygen.org/publication/PubMed/30388826" }, { "database": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" }, { "database": "PubMed", "id": "30405592", "url": "https://glygen.org/publication/PubMed/30405592" }, { "database": "PubMed", "id": "30413706", "url": "https://glygen.org/publication/PubMed/30413706" }, { "database": "PubMed", "id": "30413753", "url": "https://glygen.org/publication/PubMed/30413753" }, { "database": "PubMed", "id": "30455992", "url": "https://glygen.org/publication/PubMed/30455992" }, { "database": "PubMed", "id": "30461193", "url": "https://glygen.org/publication/PubMed/30461193" }, { "database": "PubMed", "id": "30470263", "url": "https://glygen.org/publication/PubMed/30470263" }, { "database": "PubMed", "id": "30488766", "url": "https://glygen.org/publication/PubMed/30488766" }, { "database": "PubMed", "id": "30500680", "url": "https://glygen.org/publication/PubMed/30500680" }, { "database": "PubMed", "id": "30510622", "url": "https://glygen.org/publication/PubMed/30510622" }, { "database": "PubMed", "id": "30563079", "url": "https://glygen.org/publication/PubMed/30563079" }, { "database": "PubMed", "id": "30575721", "url": "https://glygen.org/publication/PubMed/30575721" }, { "database": "PubMed", "id": "30602778", "url": "https://glygen.org/publication/PubMed/30602778" }, { "database": "PubMed", "id": "30622543", "url": "https://glygen.org/publication/PubMed/30622543" }, { "database": "PubMed", "id": "30622697", "url": "https://glygen.org/publication/PubMed/30622697" }, { "database": "PubMed", "id": "30643008", "url": "https://glygen.org/publication/PubMed/30643008" }, { "database": "PubMed", "id": "30654190", "url": "https://glygen.org/publication/PubMed/30654190" }, { "database": "PubMed", "id": "30669455", "url": "https://glygen.org/publication/PubMed/30669455" }, { "database": "PubMed", "id": "30683932", "url": "https://glygen.org/publication/PubMed/30683932" }, { "database": "PubMed", "id": "30690883", "url": "https://glygen.org/publication/PubMed/30690883" }, { "database": "PubMed", "id": "30692626", "url": "https://glygen.org/publication/PubMed/30692626" }, { "database": "PubMed", "id": "30700111", "url": "https://glygen.org/publication/PubMed/30700111" }, { "database": "PubMed", "id": "30709770", "url": "https://glygen.org/publication/PubMed/30709770" }, { "database": "PubMed", "id": "30717410", "url": "https://glygen.org/publication/PubMed/30717410" }, { "database": "PubMed", "id": "30721135", "url": "https://glygen.org/publication/PubMed/30721135" }, { "database": "PubMed", "id": "30733438", "url": "https://glygen.org/publication/PubMed/30733438" }, { "database": "PubMed", "id": "30737086", "url": "https://glygen.org/publication/PubMed/30737086" }, { "database": "PubMed", "id": "30754629", "url": "https://glygen.org/publication/PubMed/30754629" }, { "database": "PubMed", "id": "30755102", "url": "https://glygen.org/publication/PubMed/30755102" }, { "database": "PubMed", "id": "30755508", "url": "https://glygen.org/publication/PubMed/30755508" }, { "database": "PubMed", "id": "30774657", "url": "https://glygen.org/publication/PubMed/30774657" }, { "database": "PubMed", "id": "30804434", "url": "https://glygen.org/publication/PubMed/30804434" }, { "database": "PubMed", "id": "30813597", "url": "https://glygen.org/publication/PubMed/30813597" }, { "database": "PubMed", "id": "30824683", "url": "https://glygen.org/publication/PubMed/30824683" }, { "database": "PubMed", "id": "30850948", "url": "https://glygen.org/publication/PubMed/30850948" }, { "database": "PubMed", "id": "30854104", "url": "https://glygen.org/publication/PubMed/30854104" }, { "database": "PubMed", "id": "30860936", "url": "https://glygen.org/publication/PubMed/30860936" }, { "database": "PubMed", "id": "30872638", "url": "https://glygen.org/publication/PubMed/30872638" }, { "database": "PubMed", "id": "30887599", "url": "https://glygen.org/publication/PubMed/30887599" }, { "database": "PubMed", "id": "30902093", "url": "https://glygen.org/publication/PubMed/30902093" }, { "database": "PubMed", "id": "30909453", "url": "https://glygen.org/publication/PubMed/30909453" }, { "database": "PubMed", "id": "30944303", "url": "https://glygen.org/publication/PubMed/30944303" }, { "database": "PubMed", "id": "30952838", "url": "https://glygen.org/publication/PubMed/30952838" }, { "database": "PubMed", "id": "30959964", "url": "https://glygen.org/publication/PubMed/30959964" }, { "database": "PubMed", "id": "30968715", "url": "https://glygen.org/publication/PubMed/30968715" }, { "database": "PubMed", "id": "30971932", "url": "https://glygen.org/publication/PubMed/30971932" }, { "database": "PubMed", "id": "30979953", "url": "https://glygen.org/publication/PubMed/30979953" }, { "database": "PubMed", "id": "30987128", "url": "https://glygen.org/publication/PubMed/30987128" }, { "database": "PubMed", "id": "30987380", "url": "https://glygen.org/publication/PubMed/30987380" }, { "database": "PubMed", "id": "31032363", "url": "https://glygen.org/publication/PubMed/31032363" }, { "database": "PubMed", "id": "31033209", "url": "https://glygen.org/publication/PubMed/31033209" }, { "database": "PubMed", "id": "31037139", "url": "https://glygen.org/publication/PubMed/31037139" }, { "database": "PubMed", "id": "31053703", "url": "https://glygen.org/publication/PubMed/31053703" }, { "database": "PubMed", "id": "31065010", "url": "https://glygen.org/publication/PubMed/31065010" }, { "database": "PubMed", "id": "31111215", "url": "https://glygen.org/publication/PubMed/31111215" }, { "database": "PubMed", "id": "31122311", "url": "https://glygen.org/publication/PubMed/31122311" }, { "database": "PubMed", "id": "31139021", "url": "https://glygen.org/publication/PubMed/31139021" }, { "database": "PubMed", "id": "31157169", "url": "https://glygen.org/publication/PubMed/31157169" }, { "database": "PubMed", "id": "31171914", "url": "https://glygen.org/publication/PubMed/31171914" }, { "database": "PubMed", "id": "31183073", "url": "https://glygen.org/publication/PubMed/31183073" }, { "database": "PubMed", "id": "31197106", "url": "https://glygen.org/publication/PubMed/31197106" }, { "database": "PubMed", "id": "31199048", "url": "https://glygen.org/publication/PubMed/31199048" }, { "database": "PubMed", "id": "31240133", "url": "https://glygen.org/publication/PubMed/31240133" }, { "database": "PubMed", "id": "31243899", "url": "https://glygen.org/publication/PubMed/31243899" }, { "database": "PubMed", "id": "31288897", "url": "https://glygen.org/publication/PubMed/31288897" }, { "database": "PubMed", "id": "31290289", "url": "https://glygen.org/publication/PubMed/31290289" }, { "database": "PubMed", "id": "31393061", "url": "https://glygen.org/publication/PubMed/31393061" }, { "database": "PubMed", "id": "31409554", "url": "https://glygen.org/publication/PubMed/31409554" }, { "database": "PubMed", "id": "31420605", "url": "https://glygen.org/publication/PubMed/31420605" }, { "database": "PubMed", "id": "31431660", "url": "https://glygen.org/publication/PubMed/31431660" }, { "database": "PubMed", "id": "31470874", "url": "https://glygen.org/publication/PubMed/31470874" }, { "database": "PubMed", "id": "31482977", "url": "https://glygen.org/publication/PubMed/31482977" }, { "database": "PubMed", "id": "31509054", "url": "https://glygen.org/publication/PubMed/31509054" }, { "database": "PubMed", "id": "31547231", "url": "https://glygen.org/publication/PubMed/31547231" }, { "database": "PubMed", "id": "31570426", "url": "https://glygen.org/publication/PubMed/31570426" }, { "database": "PubMed", "id": "31571328", "url": "https://glygen.org/publication/PubMed/31571328" }, { "database": "PubMed", "id": "31571914", "url": "https://glygen.org/publication/PubMed/31571914" }, { "database": "PubMed", "id": "31592623", "url": "https://glygen.org/publication/PubMed/31592623" }, { "database": "PubMed", "id": "31629677", "url": "https://glygen.org/publication/PubMed/31629677" }, { "database": "PubMed", "id": "31658620", "url": "https://glygen.org/publication/PubMed/31658620" }, { "database": "PubMed", "id": "31665911", "url": "https://glygen.org/publication/PubMed/31665911" }, { "database": "PubMed", "id": "31723205", "url": "https://glygen.org/publication/PubMed/31723205" }, { "database": "PubMed", "id": "31725811", "url": "https://glygen.org/publication/PubMed/31725811" }, { "database": "PubMed", "id": "31729456", "url": "https://glygen.org/publication/PubMed/31729456" }, { "database": "PubMed", "id": "31740942", "url": "https://glygen.org/publication/PubMed/31740942" }, { "database": "PubMed", "id": "31747880", "url": "https://glygen.org/publication/PubMed/31747880" }, { "database": "PubMed", "id": "31795454", "url": "https://glygen.org/publication/PubMed/31795454" }, { "database": "PubMed", "id": "31827405", "url": "https://glygen.org/publication/PubMed/31827405" }, { "database": "PubMed", "id": "31835877", "url": "https://glygen.org/publication/PubMed/31835877" }, { "database": "PubMed", "id": "31857650", "url": "https://glygen.org/publication/PubMed/31857650" }, { "database": "PubMed", "id": "31889900", "url": "https://glygen.org/publication/PubMed/31889900" }, { "database": "PubMed", "id": "31893310", "url": "https://glygen.org/publication/PubMed/31893310" }, { "database": "PubMed", "id": "31897228", "url": "https://glygen.org/publication/PubMed/31897228" }, { "database": "PubMed", "id": "31900384", "url": "https://glygen.org/publication/PubMed/31900384" }, { "database": "PubMed", "id": "31922221", "url": "https://glygen.org/publication/PubMed/31922221" }, { "database": "PubMed", "id": "31931846", "url": "https://glygen.org/publication/PubMed/31931846" }, { "database": "PubMed", "id": "31941116", "url": "https://glygen.org/publication/PubMed/31941116" }, { "database": "PubMed", "id": "31951594", "url": "https://glygen.org/publication/PubMed/31951594" }, { "database": "PubMed", "id": "31957155", "url": "https://glygen.org/publication/PubMed/31957155" }, { "database": "PubMed", "id": "31957179", "url": "https://glygen.org/publication/PubMed/31957179" }, { "database": "PubMed", "id": "31957323", "url": "https://glygen.org/publication/PubMed/31957323" }, { "database": "PubMed", "id": "31967294", "url": "https://glygen.org/publication/PubMed/31967294" }, { "database": "PubMed", "id": "32021440", "url": "https://glygen.org/publication/PubMed/32021440" }, { "database": "PubMed", "id": "32101017", "url": "https://glygen.org/publication/PubMed/32101017" }, { "database": "PubMed", "id": "32116552", "url": "https://glygen.org/publication/PubMed/32116552" }, { "database": "PubMed", "id": "32117763", "url": "https://glygen.org/publication/PubMed/32117763" }, { "database": "PubMed", "id": "32152504", "url": "https://glygen.org/publication/PubMed/32152504" }, { "database": "PubMed", "id": "32176823", "url": "https://glygen.org/publication/PubMed/32176823" }, { "database": "PubMed", "id": "32274896", "url": "https://glygen.org/publication/PubMed/32274896" }, { "database": "PubMed", "id": "32316166", "url": "https://glygen.org/publication/PubMed/32316166" }, { "database": "PubMed", "id": "32321509", "url": "https://glygen.org/publication/PubMed/32321509" }, { "database": "PubMed", "id": "32323830", "url": "https://glygen.org/publication/PubMed/32323830" }, { "database": "PubMed", "id": "32332845", "url": "https://glygen.org/publication/PubMed/32332845" }, { "database": "PubMed", "id": "32350708", "url": "https://glygen.org/publication/PubMed/32350708" }, { "database": "PubMed", "id": "32371982", "url": "https://glygen.org/publication/PubMed/32371982" }, { "database": "PubMed", "id": "32375544", "url": "https://glygen.org/publication/PubMed/32375544" }, { "database": "PubMed", "id": "32421688", "url": "https://glygen.org/publication/PubMed/32421688" }, { "database": "PubMed", "id": "32437392", "url": "https://glygen.org/publication/PubMed/32437392" }, { "database": "PubMed", "id": "32439931", "url": "https://glygen.org/publication/PubMed/32439931" }, { "database": "PubMed", "id": "32499871", "url": "https://glygen.org/publication/PubMed/32499871" }, { "database": "PubMed", "id": "32516328", "url": "https://glygen.org/publication/PubMed/32516328" }, { "database": "PubMed", "id": "32530390", "url": "https://glygen.org/publication/PubMed/32530390" }, { "database": "PubMed", "id": "32555194", "url": "https://glygen.org/publication/PubMed/32555194" }, { "database": "PubMed", "id": "32560319", "url": "https://glygen.org/publication/PubMed/32560319" }, { "database": "PubMed", "id": "32579864", "url": "https://glygen.org/publication/PubMed/32579864" }, { "database": "PubMed", "id": "32581820", "url": "https://glygen.org/publication/PubMed/32581820" }, { "database": "PubMed", "id": "32600436", "url": "https://glygen.org/publication/PubMed/32600436" }, { "database": "PubMed", "id": "32627020", "url": "https://glygen.org/publication/PubMed/32627020" }, { "database": "PubMed", "id": "32661241", "url": "https://glygen.org/publication/PubMed/32661241" }, { "database": "PubMed", "id": "32694512", "url": "https://glygen.org/publication/PubMed/32694512" }, { "database": "PubMed", "id": "32705206", "url": "https://glygen.org/publication/PubMed/32705206" }, { "database": "PubMed", "id": "32711558", "url": "https://glygen.org/publication/PubMed/32711558" }, { "database": "PubMed", "id": "32733154", "url": "https://glygen.org/publication/PubMed/32733154" }, { "database": "PubMed", "id": "32744507", "url": "https://glygen.org/publication/PubMed/32744507" }, { "database": "PubMed", "id": "32753957", "url": "https://glygen.org/publication/PubMed/32753957" }, { "database": "PubMed", "id": "32756405", "url": "https://glygen.org/publication/PubMed/32756405" }, { "database": "PubMed", "id": "32758183", "url": "https://glygen.org/publication/PubMed/32758183" }, { "database": "PubMed", "id": "32788653", "url": "https://glygen.org/publication/PubMed/32788653" }, { "database": "PubMed", "id": "32811805", "url": "https://glygen.org/publication/PubMed/32811805" }, { "database": "PubMed", "id": "32843616", "url": "https://glygen.org/publication/PubMed/32843616" }, { "database": "PubMed", "id": "32850353", "url": "https://glygen.org/publication/PubMed/32850353" }, { "database": "PubMed", "id": "32863234", "url": "https://glygen.org/publication/PubMed/32863234" }, { "database": "PubMed", "id": "32877278", "url": "https://glygen.org/publication/PubMed/32877278" }, { "database": "PubMed", "id": "32913468", "url": "https://glygen.org/publication/PubMed/32913468" }, { "database": "PubMed", "id": "32921413", "url": "https://glygen.org/publication/PubMed/32921413" }, { "database": "PubMed", "id": "32923133", "url": "https://glygen.org/publication/PubMed/32923133" }, { "database": "PubMed", "id": "32944401", "url": "https://glygen.org/publication/PubMed/32944401" }, { "database": "PubMed", "id": "32977414", "url": "https://glygen.org/publication/PubMed/32977414" }, { "database": "PubMed", "id": "33013390", "url": "https://glygen.org/publication/PubMed/33013390" }, { "database": "PubMed", "id": "33037285", "url": "https://glygen.org/publication/PubMed/33037285" }, { "database": "PubMed", "id": "33038921", "url": "https://glygen.org/publication/PubMed/33038921" }, { "database": "PubMed", "id": "33054056", "url": "https://glygen.org/publication/PubMed/33054056" }, { "database": "PubMed", "id": "33062024", "url": "https://glygen.org/publication/PubMed/33062024" }, { "database": "PubMed", "id": "33103284", "url": "https://glygen.org/publication/PubMed/33103284" }, { "database": "PubMed", "id": "33106477", "url": "https://glygen.org/publication/PubMed/33106477" }, { "database": "PubMed", "id": "33117085", "url": "https://glygen.org/publication/PubMed/33117085" }, { "database": "PubMed", "id": "33121495", "url": "https://glygen.org/publication/PubMed/33121495" }, { "database": "PubMed", "id": "33138208", "url": "https://glygen.org/publication/PubMed/33138208" }, { "database": "PubMed", "id": "33149688", "url": "https://glygen.org/publication/PubMed/33149688" }, { "database": "PubMed", "id": "33178023", "url": "https://glygen.org/publication/PubMed/33178023" }, { "database": "PubMed", "id": "33180507", "url": "https://glygen.org/publication/PubMed/33180507" }, { "database": "PubMed", "id": "33256016", "url": "https://glygen.org/publication/PubMed/33256016" }, { "database": "PubMed", "id": "33282634", "url": "https://glygen.org/publication/PubMed/33282634" }, { "database": "PubMed", "id": "33318517", "url": "https://glygen.org/publication/PubMed/33318517" }, { "database": "PubMed", "id": "33319180", "url": "https://glygen.org/publication/PubMed/33319180" }, { "database": "PubMed", "id": "33322005", "url": "https://glygen.org/publication/PubMed/33322005" }, { "database": "PubMed", "id": "33338921", "url": "https://glygen.org/publication/PubMed/33338921" }, { "database": "PubMed", "id": "33349852", "url": "https://glygen.org/publication/PubMed/33349852" }, { "database": "PubMed", "id": "33363017", "url": "https://glygen.org/publication/PubMed/33363017" }, { "database": "PubMed", "id": "33376545", "url": "https://glygen.org/publication/PubMed/33376545" }, { "database": "PubMed", "id": "33377281", "url": "https://glygen.org/publication/PubMed/33377281" }, { "database": "PubMed", "id": "33390782", "url": "https://glygen.org/publication/PubMed/33390782" }, { "database": "PubMed", "id": "33407478", "url": "https://glygen.org/publication/PubMed/33407478" }, { "database": "PubMed", "id": "33452459", "url": "https://glygen.org/publication/PubMed/33452459" }, { "database": "PubMed", "id": "33468992", "url": "https://glygen.org/publication/PubMed/33468992" }, { "database": "PubMed", "id": "33486250", "url": "https://glygen.org/publication/PubMed/33486250" }, { "database": "PubMed", "id": "33500384", "url": "https://glygen.org/publication/PubMed/33500384" }, { "database": "PubMed", "id": "33509092", "url": "https://glygen.org/publication/PubMed/33509092" }, { "database": "PubMed", "id": "33537819", "url": "https://glygen.org/publication/PubMed/33537819" }, { "database": "PubMed", "id": "33571243", "url": "https://glygen.org/publication/PubMed/33571243" }, { "database": "PubMed", "id": "33579899", "url": "https://glygen.org/publication/PubMed/33579899" }, { "database": "PubMed", "id": "33588847", "url": "https://glygen.org/publication/PubMed/33588847" }, { "database": "PubMed", "id": "33614606", "url": "https://glygen.org/publication/PubMed/33614606" }, { "database": "PubMed", "id": "33614654", "url": "https://glygen.org/publication/PubMed/33614654" }, { "database": "PubMed", "id": "33615197", "url": "https://glygen.org/publication/PubMed/33615197" }, { "database": "PubMed", "id": "33659252", "url": "https://glygen.org/publication/PubMed/33659252" }, { "database": "PubMed", "id": "33659881", "url": "https://glygen.org/publication/PubMed/33659881" }, { "database": "PubMed", "id": "33664437", "url": "https://glygen.org/publication/PubMed/33664437" }, { "database": "PubMed", "id": "33669867", "url": "https://glygen.org/publication/PubMed/33669867" }, { "database": "PubMed", "id": "33670586", "url": "https://glygen.org/publication/PubMed/33670586" }, { "database": "PubMed", "id": "33723214", "url": "https://glygen.org/publication/PubMed/33723214" }, { "database": "PubMed", "id": "33732339", "url": "https://glygen.org/publication/PubMed/33732339" }, { "database": "PubMed", "id": "33742122", "url": "https://glygen.org/publication/PubMed/33742122" }, { "database": "PubMed", "id": "33754012", "url": "https://glygen.org/publication/PubMed/33754012" }, { "database": "PubMed", "id": "33808215", "url": "https://glygen.org/publication/PubMed/33808215" }, { "database": "PubMed", "id": "33817584", "url": "https://glygen.org/publication/PubMed/33817584" }, { "database": "PubMed", "id": "33829865", "url": "https://glygen.org/publication/PubMed/33829865" }, { "database": "PubMed", "id": "33858515", "url": "https://glygen.org/publication/PubMed/33858515" }, { "database": "PubMed", "id": "33868471", "url": "https://glygen.org/publication/PubMed/33868471" }, { "database": "PubMed", "id": "33967735", "url": "https://glygen.org/publication/PubMed/33967735" }, { "database": "PubMed", "id": "33984593", "url": "https://glygen.org/publication/PubMed/33984593" }, { "database": "PubMed", "id": "34200497", "url": "https://glygen.org/publication/PubMed/34200497" }, { "database": "PubMed", "id": "34209868", "url": "https://glygen.org/publication/PubMed/34209868" }, { "database": "PubMed", "id": "34909046", "url": "https://glygen.org/publication/PubMed/34909046" }, { "database": "PubMed", "id": "34938598", "url": "https://glygen.org/publication/PubMed/34938598" }, { "database": "PubMed", "id": "35008578", "url": "https://glygen.org/publication/PubMed/35008578" }, { "database": "PubMed", "id": "35114593", "url": "https://glygen.org/publication/PubMed/35114593" }, { "database": "PubMed", "id": "35253622", "url": "https://glygen.org/publication/PubMed/35253622" }, { "database": "PubMed", "id": "35269443", "url": "https://glygen.org/publication/PubMed/35269443" }, { "database": "PubMed", "id": "35271909", "url": "https://glygen.org/publication/PubMed/35271909" }, { "database": "PubMed", "id": "35366279", "url": "https://glygen.org/publication/PubMed/35366279" }, { "database": "PubMed", "id": "35566660", "url": "https://glygen.org/publication/PubMed/35566660" }, { "database": "PubMed", "id": "35641033", "url": "https://glygen.org/publication/PubMed/35641033" }, { "database": "PubMed", "id": "35738117", "url": "https://glygen.org/publication/PubMed/35738117" }, { "database": "PubMed", "id": "35918763", "url": "https://glygen.org/publication/PubMed/35918763" }, { "database": "PubMed", "id": "36041631", "url": "https://glygen.org/publication/PubMed/36041631" }, { "database": "PubMed", "id": "36106050", "url": "https://glygen.org/publication/PubMed/36106050" }, { "database": "PubMed", "id": "36115854", "url": "https://glygen.org/publication/PubMed/36115854" }, { "database": "PubMed", "id": "36212716", "url": "https://glygen.org/publication/PubMed/36212716" }, { "database": "PubMed", "id": "36222151", "url": "https://glygen.org/publication/PubMed/36222151" }, { "database": "PubMed", "id": "36386326", "url": "https://glygen.org/publication/PubMed/36386326" }, { "database": "PubMed", "id": "36444808", "url": "https://glygen.org/publication/PubMed/36444808" }, { "database": "PubMed", "id": "9094314", "url": "https://glygen.org/publication/PubMed/9094314" }, { "database": "PubMed", "id": "9850049", "url": "https://glygen.org/publication/PubMed/9850049" }, { "database": "PubMed", "id": "9857186", "url": "https://glygen.org/publication/PubMed/9857186" }, { "database": "PubMed", "id": "9368760", "url": "https://glygen.org/publication/PubMed/9368760" }, { "database": "PubMed", "id": "18456494", "url": "https://glygen.org/publication/PubMed/18456494" }, { "database": "PubMed", "id": "20333297", "url": "https://glygen.org/publication/PubMed/20333297" }, { "database": "PubMed", "id": "20481595", "url": "https://glygen.org/publication/PubMed/20481595" }, { "database": "PubMed", "id": "9512493", "url": "https://glygen.org/publication/PubMed/9512493" } ], "site_lbl": "Thr308" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P31749-1.291.291", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P31749-1.305.305", "categories": [ "glycosylation_flag", "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P31749-1.312.312", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P31749-1.315.315", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P31749-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P31749-1.326.326", "categories": [ "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1120 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.312.312", "start_pos": 312, "end_pos": 312, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Regulation of Akt signaling by O-GlcNAc in euglycemia.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2008", "authors": "Soesanto YA, Luo B, Jones D, Taylor R, Gabrielsen JS, Parker G, McClain DA", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "18728220", "url": "https://glygen.org/publication/PubMed/18728220" } ] }, { "title": "Fluorescent Detection of O-GlcNAc via Tandem Glycan Labeling.", "journal": "Bioconjugate chemistry", "date": "2020", "authors": "Wu ZL, Luo A, Grill A, Lao T, Zou Y, Chen Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "32830957", "url": "https://glygen.org/publication/PubMed/32830957" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates Akt signaling.", "journal": "PloS one", "date": "2012", "authors": "Wang S, Huang X, Sun D, Xin X, Pan Q, Peng S, Liang Z, Luo C, Yang Y, Jiang H, Huang M, Chai W, Ding J, Geng M", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749#ptm_processing" }, { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "O-GlcNAc Atlas", "id": "P31749", "url": "https://oglcnac.org/atlas/detail/P31749" }, { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392" } ] }, { "title": "O-GlcNAcylation modulates HBV replication through regulating cellular autophagy at multiple levels.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2020", "authors": "Wang X, Lin Y, Liu S, Zhu Y, Lu K, Broering R, Lu M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "32892442", "url": "https://glygen.org/publication/PubMed/32892442" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "O-GlcNAcylation regulates ischemia-induced neuronal apoptosis through AKT signaling.", "journal": "Scientific reports", "date": "2015", "authors": "Shi J, Gu JH, Dai CL, Gu J, Jin X, Sun J, Iqbal K, Liu F, Gong CX", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "O-GlcNAc Atlas", "id": "P31749", "url": "https://oglcnac.org/atlas/detail/P31749" } ], "reference": [ { "type": "PubMed", "id": "26412745", "url": "https://glygen.org/publication/PubMed/26412745" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "title": "Akt1 is dynamically modified with O-GlcNAc following treatments with PUGNAc and insulin-like growth factor-1.", "journal": "FEBS letters", "date": "2006", "authors": "Gandy JC, Rountree AE, Bijur GN", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "16684529", "url": "https://glygen.org/publication/PubMed/16684529" } ] }, { "title": "Detecting and Imaging O-GlcNAc Sites Using Glycosyltransferases: A Systematic Approach to Study O-GlcNAc.", "journal": "Cell chemical biology", "date": "2018", "authors": "Wu ZL, Tatge TJ, Grill AE, Zou Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "30100348", "url": "https://glygen.org/publication/PubMed/30100348" } ] }, { "title": "O-GlcNAcylation of kinases.", "journal": "Biochemical and biophysical research communications", "date": "2012", "authors": "Dias WB, Cheung WD, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "22564745", "url": "https://glygen.org/publication/PubMed/22564745" } ] }, { "title": "Aberrant O-GlcNAcylation characterizes chronic lymphocytic leukemia.", "journal": "Leukemia", "date": "2010", "authors": "Shi Y, Tomic J, Wen F, Shaha S, Bahlo A, Harrison R, Dennis JW, Williams R, Gross BJ, Walker S, Zuccolo J, Deans JP, Hart GW, Spaner DE", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "20668475", "url": "https://glygen.org/publication/PubMed/20668475" } ] }, { "title": "O-GlcNAc elevation through activation of the hexosamine biosynthetic pathway enhances cancer cell chemoresistance.", "journal": "Cell death & disease", "date": "2018", "authors": "Liu Y, Cao Y, Pan X, Shi M, Wu Q, Huang T, Jiang H, Li W, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29706631", "url": "https://glygen.org/publication/PubMed/29706631" } ] }, { "title": "Diverse regulation of AKT and GSK-3beta by O-GlcNAcylation in various types of cells.", "journal": "FEBS letters", "date": "2012", "authors": "Shi J, Wu S, Dai CL, Li Y, Grundke-Iqbal I, Iqbal K, Liu F, Gong CX", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "22687243", "url": "https://glygen.org/publication/PubMed/22687243" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18728220", "url": "https://glygen.org/publication/PubMed/18728220", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32830957", "url": "https://glygen.org/publication/PubMed/32830957", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32892442", "url": "https://glygen.org/publication/PubMed/32892442", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26412745", "url": "https://glygen.org/publication/PubMed/26412745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16684529", "url": "https://glygen.org/publication/PubMed/16684529", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30100348", "url": "https://glygen.org/publication/PubMed/30100348", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22564745", "url": "https://glygen.org/publication/PubMed/22564745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20668475", "url": "https://glygen.org/publication/PubMed/20668475", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29706631", "url": "https://glygen.org/publication/PubMed/29706631", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22687243", "url": "https://glygen.org/publication/PubMed/22687243", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://oglcnac.org/atlas/detail/P31749", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs1892502921", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1892502921", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1892502921", "url": "https://www.ensembl.org/id/rs1892502921", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1892502921", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1892502921", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DFGLCKEGIKDGATMKTFCG", "down_seq": "PEYLAPEVLEDNDYGRAVDW", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr312", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "P31749", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "18728220", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18728220" }, { "id": "32830957", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32830957" }, { "id": "22629392", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22629392" }, { "id": "32892442", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32892442" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "26412745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26412745" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "16684529", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16684529" }, { "id": "30100348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30100348" }, { "id": "22564745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22564745" }, { "id": "20668475", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20668475" }, { "id": "29706631", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29706631" }, { "id": "22687243", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22687243" }, { "id": "P31749", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P31749" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GlcNAc) threonine;O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr312", "evidence": [ { "id": "P31749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31749#ptm_processing" }, { "id": "22629392", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22629392" }, { "id": "GLY_000481", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000481" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Reduces O-GlcNAc levels; Reduces O-GlcNAc levels even more; when associated with A-305.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392" } ] }, { "sequence_org": "T", "sequence_mut": "Y", "comment": "Abolishes phosphorylation at Thr-308.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392" } ] } ], "snv": [ { "evidence": [ { "id": "rs1892502921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1892502921" }, { "id": "rs1892502921", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1892502921" }, { "id": "rs1892502921", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1892502921" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "14", "chr_pos": "104773273", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T312", "keywords": [ "ebi", "somatic" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392" } ], "site_lbl": "Thr312" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "P31749-1.305.305", "categories": [ "glycosylation_flag", "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P31749-1.308.308", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P31749-1.315.315", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P31749-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P31749-1.326.326", "categories": [ "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.473.473", "start_pos": 473, "end_pos": 473, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Regulation of Akt signaling by O-GlcNAc in euglycemia.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2008", "authors": "Soesanto YA, Luo B, Jones D, Taylor R, Gabrielsen JS, Parker G, McClain DA", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "18728220", "url": "https://glygen.org/publication/PubMed/18728220" } ] }, { "title": "Fluorescent Detection of O-GlcNAc via Tandem Glycan Labeling.", "journal": "Bioconjugate chemistry", "date": "2020", "authors": "Wu ZL, Luo A, Grill A, Lao T, Zou Y, Chen Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "32830957", "url": "https://glygen.org/publication/PubMed/32830957" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates Akt signaling.", "journal": "PloS one", "date": "2012", "authors": "Wang S, Huang X, Sun D, Xin X, Pan Q, Peng S, Liang Z, Luo C, Yang Y, Jiang H, Huang M, Chai W, Ding J, Geng M", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749#ptm_processing" }, { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "O-GlcNAc Atlas", "id": "P31749", "url": "https://oglcnac.org/atlas/detail/P31749" }, { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392" } ] }, { "title": "O-GlcNAcylation modulates HBV replication through regulating cellular autophagy at multiple levels.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2020", "authors": "Wang X, Lin Y, Liu S, Zhu Y, Lu K, Broering R, Lu M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "32892442", "url": "https://glygen.org/publication/PubMed/32892442" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "O-GlcNAcylation regulates ischemia-induced neuronal apoptosis through AKT signaling.", "journal": "Scientific reports", "date": "2015", "authors": "Shi J, Gu JH, Dai CL, Gu J, Jin X, Sun J, Iqbal K, Liu F, Gong CX", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "O-GlcNAc Atlas", "id": "P31749", "url": "https://oglcnac.org/atlas/detail/P31749" } ], "reference": [ { "type": "PubMed", "id": "26412745", "url": "https://glygen.org/publication/PubMed/26412745" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "title": "Akt1 is dynamically modified with O-GlcNAc following treatments with PUGNAc and insulin-like growth factor-1.", "journal": "FEBS letters", "date": "2006", "authors": "Gandy JC, Rountree AE, Bijur GN", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "16684529", "url": "https://glygen.org/publication/PubMed/16684529" } ] }, { "title": "Detecting and Imaging O-GlcNAc Sites Using Glycosyltransferases: A Systematic Approach to Study O-GlcNAc.", "journal": "Cell chemical biology", "date": "2018", "authors": "Wu ZL, Tatge TJ, Grill AE, Zou Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "30100348", "url": "https://glygen.org/publication/PubMed/30100348" } ] }, { "title": "O-GlcNAcylation of kinases.", "journal": "Biochemical and biophysical research communications", "date": "2012", "authors": "Dias WB, Cheung WD, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "22564745", "url": "https://glygen.org/publication/PubMed/22564745" } ] }, { "title": "Aberrant O-GlcNAcylation characterizes chronic lymphocytic leukemia.", "journal": "Leukemia", "date": "2010", "authors": "Shi Y, Tomic J, Wen F, Shaha S, Bahlo A, Harrison R, Dennis JW, Williams R, Gross BJ, Walker S, Zuccolo J, Deans JP, Hart GW, Spaner DE", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "20668475", "url": "https://glygen.org/publication/PubMed/20668475" } ] }, { "title": "O-GlcNAc elevation through activation of the hexosamine biosynthetic pathway enhances cancer cell chemoresistance.", "journal": "Cell death & disease", "date": "2018", "authors": "Liu Y, Cao Y, Pan X, Shi M, Wu Q, Huang T, Jiang H, Li W, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29706631", "url": "https://glygen.org/publication/PubMed/29706631" } ] }, { "title": "Diverse regulation of AKT and GSK-3beta by O-GlcNAcylation in various types of cells.", "journal": "FEBS letters", "date": "2012", "authors": "Shi J, Wu S, Dai CL, Li Y, Grundke-Iqbal I, Iqbal K, Liu F, Gong CX", "evidence": [ { "database": "O-GlcNAc Database", "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" } ], "reference": [ { "type": "PubMed", "id": "22687243", "url": "https://glygen.org/publication/PubMed/22687243" } ] }, { "title": "Potential role of O-GlcNAcylation and involvement of PI3K/Akt1 pathway in the expression of oncogenic phenotypes of gastric cancer cells in vitro.", "journal": "Biotechnology and applied biochemistry", "date": "2016", "authors": "Zhang N, Chen X", "evidence": [ { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26333304", "url": "https://glygen.org/publication/PubMed/26333304" } ] }, { "title": "Multifaceted Regulation of Akt by Diverse C-Terminal Post-translational Modifications.", "journal": "ACS chemical biology", "date": "2022-01-21", "authors": "Salguero Antonieta L, Chen Maggie, Balana Aaron T, Chu Nam, Jiang Hanjie, Palanski Brad A, Bae Hwan, Wright Katharine M, Nathan Sara, Zhu Heng, Gabelli Sandra B, Pratt Matthew R, Cole Philip A", "evidence": [ { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "34941261", "url": "https://glygen.org/publication/PubMed/34941261" } ] }, { "title": "PKB/Akt mediates cell-cycle progression by phosphorylation of p27(Kip1) at threonine 157 and modulation of its cellular localization.", "journal": "Nature medicine", "date": "2002", "authors": "Shin I, Yakes FM, Rojo F, Shin NY, Bakin AV, Baselga J, Arteaga CL", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "reference": [ { "type": "PubMed", "id": "12244301", "url": "https://glygen.org/publication/PubMed/12244301" } ] }, { "title": "Mechanism of activation of protein kinase B by insulin and IGF-1.", "journal": "The EMBO journal", "date": "1996", "authors": "Alessi DR, Andjelkovic M, Caudwell B, Cron P, Morrice N, Cohen P, Hemmings BA", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "8978681", "url": "https://glygen.org/publication/PubMed/8978681" } ] }, { "title": "PDK1 acquires PDK2 activity in the presence of a synthetic peptide derived from the carboxyl terminus of PRK2.", "journal": "Current biology : CB", "date": "1999", "authors": "Balendran A, Casamayor A, Deak M, Paterson A, Gaffney P, Currie R, Downes CP, Alessi DR", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "10226025", "url": "https://glygen.org/publication/PubMed/10226025" } ] }, { "title": "Dual regulation of platelet protein kinase B.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Kroner C, Eybrechts K, Akkerman JW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10874027", "url": "https://glygen.org/publication/PubMed/10874027" } ] }, { "title": "Developmentally spliced PKCbetaII provides a possible link between mTORC2 and Akt kinase to regulate 3T3-L1 adipocyte insulin-stimulated glucose transport.", "journal": "Biochemical and biophysical research communications", "date": "2009", "authors": "Kleiman E, Carter G, Ghansah T, Patel NA, Cooper DR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19686698", "url": "https://glygen.org/publication/PubMed/19686698" } ] }, { "title": "Ouabain stimulates protein kinase B (Akt) phosphorylation in opossum kidney proximal tubule cells through an ERK-dependent pathway.", "journal": "American journal of physiology. Cell physiology", "date": "2007", "authors": "Khundmiri SJ, Amin V, Henson J, Lewis J, Ameen M, Rane MJ, Delamere NA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17634416", "url": "https://glygen.org/publication/PubMed/17634416" } ] }, { "title": "Akt phosphorylates Prohibitin 1 to mediate its mitochondrial localization and promote proliferation of bladder cancer cells.", "journal": "Cell death & disease", "date": "2015", "authors": "Jiang L, Dong P, Zhang Z, Li C, Li Y, Liao Y, Li X, Wu Z, Guo S, Mai S, Xie D, Liu Z, Zhou F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25719244", "url": "https://glygen.org/publication/PubMed/25719244" } ] }, { "title": "Phosphorylation and regulation of Akt/PKB by the rictor-mTOR complex.", "journal": "Science (New York, N.Y.)", "date": "2005", "authors": "Sarbassov DD, Guertin DA, Ali SM, Sabatini DM", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15718470", "url": "https://glygen.org/publication/PubMed/15718470" } ] }, { "title": "mTOR: from growth signal integration to cancer, diabetes and ageing.", "journal": "Nature reviews. Molecular cell biology", "date": "2011", "authors": "Zoncu R, Efeyan A, Sabatini DM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21157483", "url": "https://glygen.org/publication/PubMed/21157483" } ] }, { "title": "mTORC2 protein complex-mediated Akt (Protein Kinase B) Serine 473 Phosphorylation is not required for Akt1 activity in human platelets [corrected].", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Moore SF, Hunter RW, Hers I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21592956", "url": "https://glygen.org/publication/PubMed/21592956" } ] }, { "title": "DNA-PKcs, but not TLR9, is required for activation of Akt by CpG-DNA.", "journal": "The EMBO journal", "date": "2005", "authors": "Dragoi AM, Fu X, Ivanov S, Zhang P, Sheng L, Wu D, Li GC, Chu WM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15678105", "url": "https://glygen.org/publication/PubMed/15678105" } ] }, { "title": "DNA-dependent protein kinase-mediated phosphorylation of protein kinase B requires a specific recognition sequence in the C-terminal hydrophobic motif.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Park J, Feng J, Li Y, Hammarsten O, Brazil DP, Hemmings BA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19144640", "url": "https://glygen.org/publication/PubMed/19144640" } ] }, { "title": "PKBalpha/Akt1 acts downstream of DNA-PK in the DNA double-strand break response and promotes survival.", "journal": "Molecular cell", "date": "2008", "authors": "Bozulic L, Surucu B, Hynx D, Hemmings BA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18439899", "url": "https://glygen.org/publication/PubMed/18439899" } ] }, { "title": "ACK1 promotes gastric cancer epithelial-mesenchymal transition and metastasis through AKT-POU2F1-ECD signalling.", "journal": "The Journal of pathology", "date": "2015", "authors": "Xu SH, Huang JZ, Xu ML, Yu G, Yin XF, Chen D, Yan GR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25678401", "url": "https://glygen.org/publication/PubMed/25678401" } ] }, { "title": "Regulation of Akt/PKB activity by P21-activated kinase in cardiomyocytes.", "journal": "Journal of molecular and cellular cardiology", "date": "2008", "authors": "Mao K, Kobayashi S, Jaffer ZM, Huang Y, Volden P, Chernoff J, Liang Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18054038", "url": "https://glygen.org/publication/PubMed/18054038" } ] }, { "title": "Phosphoinositide-3-OH kinase-dependent regulation of glycogen synthase kinase 3 and protein kinase B/AKT by the integrin-linked kinase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Delcommenne M, Tan C, Gray V, Rue L, Woodgett J, Dedhar S", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" }, { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "9736715", "url": "https://glygen.org/publication/PubMed/9736715" } ] }, { "title": "Regulation of protein kinase B/Akt-serine 473 phosphorylation by integrin-linked kinase: critical roles for kinase activity and amino acids arginine 211 and serine 343.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Persad S, Attwell S, Gray V, Mawji N, Deng JT, Leung D, Yan J, Sanghera J, Walsh MP, Dedhar S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11313365", "url": "https://glygen.org/publication/PubMed/11313365" } ] }, { "title": "Functional Role of mTORC2 versus Integrin-Linked Kinase in Mediating Ser473-Akt Phosphorylation in PTEN-Negative Prostate and Breast Cancer Cell Lines.", "journal": "PloS one", "date": "2013", "authors": "Lee SL, Chou CC, Chuang HC, Hsu EC, Chiu PC, Kulp SK, Byrd JC, Chen CS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23840605", "url": "https://glygen.org/publication/PubMed/23840605" } ] }, { "title": "IkappaB kinase epsilon and TANK-binding kinase 1 activate AKT by direct phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Xie X, Zhang D, Zhao B, Lu MK, You M, Condorelli G, Wang CY, Guan KL", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21464307", "url": "https://glygen.org/publication/PubMed/21464307" } ] }, { "title": "Inhibition of insulin-induced activation of Akt by a kinase-deficient mutant of the epsilon isozyme of protein kinase C.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Matsumoto M, Ogawa W, Hino Y, Furukawa K, Ono Y, Takahashi M, Ohba M, Kuroki T, Kasuga M", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "11278835", "url": "https://glygen.org/publication/PubMed/11278835" } ] }, { "title": "LRRK2 directly phosphorylates Akt1 as a possible physiological substrate: impairment of the kinase activity by Parkinson's disease-associated mutations.", "journal": "FEBS letters", "date": "2011", "authors": "Ohta E, Kawakami F, Kubo M, Obata F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21658387", "url": "https://glygen.org/publication/PubMed/21658387" } ] }, { "title": "Genetic dissection reveals that Akt is the critical kinase downstream of LRRK2 to phosphorylate and inhibit FOXO1, and promotes neuron survival.", "journal": "Human molecular genetics", "date": "2014", "authors": "Chuang CL, Lu YN, Wang HC, Chang HY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24916379", "url": "https://glygen.org/publication/PubMed/24916379" } ] }, { "title": "Analysis of mTOR signaling by the small G-proteins, Rheb and RhebL1.", "journal": "FEBS letters", "date": "2005", "authors": "Tee AR, Blenis J, Proud CG", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "16098514", "url": "https://glygen.org/publication/PubMed/16098514" } ] }, { "title": "TOPK/PBK promotes cell migration via modulation of the PI3K/PTEN/AKT pathway and is associated with poor prognosis in lung cancer.", "journal": "Oncogene", "date": "2012", "authors": "Shih MC, Chen JY, Wu YC, Jan YH, Yang BM, Lu PJ, Cheng HC, Huang MS, Yang CJ, Hsiao M, Lai JM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21996732", "url": "https://glygen.org/publication/PubMed/21996732" } ] }, { "title": "Akt contributes to activation of the TRIF-dependent signaling pathways of TLRs by interacting with TANK-binding kinase 1.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2011", "authors": "Joung SM, Park ZY, Rani S, Takeuchi O, Akira S, Lee JY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21106850", "url": "https://glygen.org/publication/PubMed/21106850" } ] }, { "title": "TBK1 directly engages Akt/PKB survival signaling to support oncogenic transformation.", "journal": "Molecular cell", "date": "2011", "authors": "Ou YH, Torres M, Ram R, Formstecher E, Roland C, Cheng T, Brekken R, Wurz R, Tasker A, Polverino T, Tan SL, White MA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21329883", "url": "https://glygen.org/publication/PubMed/21329883" } ] }, { "title": "Regulation of Akt/PKB activation by tyrosine phosphorylation.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Chen R, Kim O, Yang J, Sato K, Eisenmann KM, McCarthy J, Chen H, Qiu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "11445557", "url": "https://glygen.org/publication/PubMed/11445557" } ] }, { "title": "Ceramide-induced inhibition of Akt is mediated through protein kinase Czeta: implications for growth arrest.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Bourbon NA, Sandirasegarane L, Kester M", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "11723139", "url": "https://glygen.org/publication/PubMed/11723139" } ] }, { "title": "Direct identification of tyrosine 474 as a regulatory phosphorylation site for the Akt protein kinase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Conus NM, Hannan KM, Cristiano BE, Hemmings BA, Pearson RB", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "12149249", "url": "https://glygen.org/publication/PubMed/12149249" } ] }, { "title": "Identification of a plasma membrane Raft-associated PKB Ser473 kinase activity that is distinct from ILK and PDK1.", "journal": "Current biology : CB", "date": "2002", "authors": "Hill MM, Feng J, Hemmings BA", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "12176337", "url": "https://glygen.org/publication/PubMed/12176337" } ] }, { "title": "Eosinophil major basic protein stimulates neutrophil superoxide production by a class IA phosphoinositide 3-kinase and protein kinase C-zeta-dependent pathway.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2003", "authors": "Shenoy NG, Gleich GJ, Thomas LL", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "14500673", "url": "https://glygen.org/publication/PubMed/14500673" } ] }, { "title": "Increased proliferation and altered growth factor dependence of human mammary epithelial cells overexpressing the Gab2 docking protein.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Brummer T, Schramek D, Hayes VM, Bennett HL, Caldon CE, Musgrove EA, Daly RJ", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "16253990", "url": "https://glygen.org/publication/PubMed/16253990" } ] }, { "title": "Prolonged rapamycin treatment inhibits mTORC2 assembly and Akt/PKB.", "journal": "Molecular cell", "date": "2006", "authors": "Sarbassov DD, Ali SM, Sengupta S, Sheen JH, Hsu PP, Bagley AF, Markhard AL, Sabatini DM", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "16603397", "url": "https://glygen.org/publication/PubMed/16603397" } ] }, { "title": "Direct binding of p85 to sst2 somatostatin receptor reveals a novel mechanism for inhibiting PI3K pathway.", "journal": "The EMBO journal", "date": "2006", "authors": "Bousquet C, Guillermet-Guibert J, Saint-Laurent N, Archer-Lahlou E, Lopez F, Fanjul M, Ferrand A, Fourmy D, Pichereaux C, Monsarrat B, Pradayrol L, Esteve JP, Susini C", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "16917505", "url": "https://glygen.org/publication/PubMed/16917505" } ] }, { "title": "TRAF6 is required for TRAF2-dependent CD40 signal transduction in nonhemopoietic cells.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Davies CC, Mak TW, Young LS, Eliopoulos AG", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "16260598", "url": "https://glygen.org/publication/PubMed/16260598" } ] }, { "title": "Par-4 inhibits Akt and suppresses Ras-induced lung tumorigenesis.", "journal": "The EMBO journal", "date": "2008-08-20", "authors": "Joshi Jayashree, Fernandez-Marcos Pablo J, Galvez Anita, Amanchy Ramars, Linares Juan F, Duran Angeles, Pathrose Peterson, Leitges Michael, Ca\u00f1amero Marta, Collado Manuel, Salas Clara, Serrano Manuel, Moscat Jorge, Diaz-Meco Maria T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18650932", "url": "https://glygen.org/publication/PubMed/18650932" } ] }, { "title": "Growth factor pleiotropy is controlled by a receptor Tyr/Ser motif that acts as a binary switch.", "journal": "The EMBO journal", "date": "2006", "authors": "Guthridge MA, Powell JA, Barry EF, Stomski FC, McClure BJ, Ramshaw H, Felquer FA, Dottore M, Thomas DT, To B, Begley CG, Lopez AF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16437163", "url": "https://glygen.org/publication/PubMed/16437163" } ] }, { "title": "The mTOR (mammalian target of rapamycin) kinase maintains integrity of mTOR complex 2.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Chen CH, Sarbassov dos D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21965657", "url": "https://glygen.org/publication/PubMed/21965657" } ] }, { "title": "Autophosphorylation of Akt at threonine 72 and serine 246. A potential mechanism of regulation of Akt kinase activity.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Li X, Lu Y, Jin W, Liang K, Mills GB, Fan Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16549426", "url": "https://glygen.org/publication/PubMed/16549426" } ] }, { "title": "Akt/PKB localisation and 3' phosphoinositide generation at sites of epithelial cell-matrix and cell-cell interaction.", "journal": "Current biology : CB", "date": "1999-04-22", "authors": "Watton S J, Downward J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10226029", "url": "https://glygen.org/publication/PubMed/10226029" } ] }, { "title": "Depolarization and neurotrophins converge on the phosphatidylinositol 3-kinase-Akt pathway to synergistically regulate neuronal survival.", "journal": "The Journal of cell biology", "date": "1999-09-06", "authors": "Vaillant A R, Mazzoni I, Tudan C, Boudreau M, Kaplan D R, Miller F D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10477751", "url": "https://glygen.org/publication/PubMed/10477751" } ] }, { "title": "SHP-1 regulates Lck-induced phosphatidylinositol 3-kinase phosphorylation and activity.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Cuevas B, Lu Y, Watt S, Kumar R, Zhang J, Siminovitch KA, Mills GB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10488096", "url": "https://glygen.org/publication/PubMed/10488096" } ] }, { "title": "p53 inhibits alpha 6 beta 4 integrin survival signaling by promoting the caspase 3-dependent cleavage of AKT/PKB.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Bachelder RE, Ribick MJ, Marchetti A, Falcioni R, Soddu S, Davis KR, Mercurio AM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10579725", "url": "https://glygen.org/publication/PubMed/10579725" } ] }, { "title": "Intracellular signaling of angiotensin II-induced p70 S6 kinase phosphorylation at Ser(411) in vascular smooth muscle cells. Possible requirement of epidermal growth factor receptor, Ras, extracellular signal-regulated kinase, and Akt.", "journal": "The Journal of biological chemistry", "date": "1999-12-24", "authors": "Eguchi S, Iwasaki H, Ueno H, Frank G D, Motley E D, Eguchi K, Marumo F, Hirata Y, Inagami T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10601235", "url": "https://glygen.org/publication/PubMed/10601235" } ] }, { "title": "Inhibition of integrin-linked kinase (ILK) suppresses activation of protein kinase B/Akt and induces cell cycle arrest and apoptosis of PTEN-mutant prostate cancer cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000-03-28", "authors": "Persad S, Attwell S, Gray V, Delcommenne M, Troussard A, Sanghera J, Dedhar S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10716737", "url": "https://glygen.org/publication/PubMed/10716737" } ] }, { "title": "Akt/protein kinase B is regulated by autophosphorylation at the hypothetical PDK-2 site.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Toker A, Newton AC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10722653", "url": "https://glygen.org/publication/PubMed/10722653" } ] }, { "title": "Platelet-derived growth factor activates porcine thecal cell phosphatidylinositol-3-kinase-Akt/PKB and ras-extracellular signal-regulated kinase-1/2 kinase signaling pathways via the platelet-derived growth factor-beta receptor.", "journal": "Endocrinology", "date": "2000-04", "authors": "Taylor C C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10746662", "url": "https://glygen.org/publication/PubMed/10746662" } ] }, { "title": "Membrane depolarization-mediated survival of sympathetic neurons occurs through both phosphatidylinositol 3-kinase- and CaM kinase II-dependent pathways.", "journal": "Brain research", "date": "2000", "authors": "Ikegami K, Koike T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10825497", "url": "https://glygen.org/publication/PubMed/10825497" } ] }, { "title": "Increased AKT activity contributes to prostate cancer progression by dramatically accelerating prostate tumor growth and diminishing p27Kip1 expression.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Graff JR, Konicek BW, McNulty AM, Wang Z, Houck K, Allen S, Paul JD, Hbaiu A, Goode RG, Sandusky GE, Vessella RL, Neubauer BL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10827191", "url": "https://glygen.org/publication/PubMed/10827191" } ] }, { "title": "cAMP-mediated growth inhibition of lymphoid cells in G1: rapid down-regulation of cyclin D3 at the level of translation.", "journal": "European journal of immunology", "date": "2000", "authors": "Naderi S, Gutzkow KB, Christoffersen J, Smeland EB, Blomhoff HK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10898514", "url": "https://glygen.org/publication/PubMed/10898514" } ] }, { "title": "Akt/protein kinase B isoforms are differentially regulated by epidermal growth factor stimulation.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Okano J, Gaslightwala I, Birnbaum MJ, Rustgi AK, Nakagawa H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10908564", "url": "https://glygen.org/publication/PubMed/10908564" } ] }, { "title": "The integrin-linked kinase (ILK) suppresses anoikis.", "journal": "Oncogene", "date": "2000-08-03", "authors": "Attwell S, Roskelley C, Dedhar S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10949937", "url": "https://glygen.org/publication/PubMed/10949937" } ] }, { "title": "Deficiency of PTEN in Jurkat T cells causes constitutive localization of Itk to the plasma membrane and hyperresponsiveness to CD3 stimulation.", "journal": "Molecular and cellular biology", "date": "2000-09", "authors": "Shan X, Czar M J, Bunnell S C, Liu P, Liu Y, Schwartzberg P L, Wange R L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10958690", "url": "https://glygen.org/publication/PubMed/10958690" } ] }, { "title": "Dual regulation of Akt/protein kinase B by heterotrimeric G protein subunits.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Bommakanti RK, Vinayak S, Simonds WF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10986289", "url": "https://glygen.org/publication/PubMed/10986289" } ] }, { "title": "Serine-threonine protein kinase Akt does not mediate ischemic tolerance after global ischemia in the gerbil.", "journal": "Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism", "date": "2000", "authors": "Namura S, Nagata I, Kikuchi H, Andreucci M, Alessandrini A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10994851", "url": "https://glygen.org/publication/PubMed/10994851" } ] }, { "title": "Hepatocyte growth factor promotes cell survival from fas-mediated cell death in hepatocellular carcinoma cells via Akt activation and Fas-death-inducing signaling complex suppression.", "journal": "Hepatology (Baltimore, Md.)", "date": "2000", "authors": "Suzuki A, Hayashida M, Kawano H, Sugimoto K, Nakano T, Shiraki K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11003625", "url": "https://glygen.org/publication/PubMed/11003625" } ] }, { "title": "Integrin-linked kinase (ILK): a `hot` therapeutic target.", "journal": "Biochemical pharmacology", "date": "2000", "authors": "Yoganathan TN, Costello P, Chen X, Jabali M, Yan J, Leung D, Zhang Z, Yee A, Dedhar S, Sanghera J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11007949", "url": "https://glygen.org/publication/PubMed/11007949" } ] }, { "title": "Akt-mediated survival of oligodendrocytes induced by neuregulins.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2000", "authors": "Flores AI, Mallon BS, Matsui T, Ogawa W, Rosenzweig A, Okamoto T, Macklin WB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11027222", "url": "https://glygen.org/publication/PubMed/11027222" } ] }, { "title": "Membrane estrogen receptor engagement activates endothelial nitric oxide synthase via the PI3-kinase-Akt pathway in human endothelial cells.", "journal": "Circulation research", "date": "2000", "authors": "Haynes MP, Sinha D, Russell KS, Collinge M, Fulton D, Morales-Ruiz M, Sessa WC, Bender JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9009391", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9009391" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11029403", "url": "https://glygen.org/publication/PubMed/11029403" } ] }, { "title": "p38 Kinase-dependent MAPKAPK-2 activation functions as 3-phosphoinositide-dependent kinase-2 for Akt in human neutrophils.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Rane MJ, Coxon PY, Powell DW, Webster R, Klein JB, Pierce W, Ping P, McLeish KR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11042204", "url": "https://glygen.org/publication/PubMed/11042204" } ] }, { "title": "Effects of troglitazone on cellular differentiation, insulin signaling, and glucose metabolism in cultured human skeletal muscle cells.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Kausch C, Krutzfeldt J, Witke A, Rettig A, Bachmann O, Rett K, Matthaei S, Machicao F, Haring HU, Stumvoll M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11162573", "url": "https://glygen.org/publication/PubMed/11162573" } ] }, { "title": "Ceramide induces the dephosphorylation and inhibition of constitutively activated Akt in PTEN negative U87mg cells.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Zinda MJ, Vlahos CJ, Lai MT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11162641", "url": "https://glygen.org/publication/PubMed/11162641" } ] }, { "title": "IGF-I promotes Schwann cell motility and survival via activation of Akt.", "journal": "Molecular and cellular endocrinology", "date": "2000", "authors": "Cheng HL, Steinway M, Delaney CL, Franke TF, Feldman EL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11162904", "url": "https://glygen.org/publication/PubMed/11162904" } ] }, { "title": "Role of 14-3-3epsilon, c-Myc/Max, and Akt phosphorylation in HIV-1 gp 120-induced mesangial cell proliferation.", "journal": "American journal of physiology. Renal physiology", "date": "2001", "authors": "Kapasi AA, Fan S, Singhal PC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11208609", "url": "https://glygen.org/publication/PubMed/11208609" } ] }, { "title": "Cyclic AMP inhibits Akt activity by blocking the membrane localization of PDK1.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kim S, Jee K, Kim D, Koh H, Chung J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11278269", "url": "https://glygen.org/publication/PubMed/11278269" } ] }, { "title": "Hypoxia activates a platelet-derived growth factor receptor/phosphatidylinositol 3-kinase/Akt pathway that results in glycogen synthase kinase-3 inactivation.", "journal": "Cancer research", "date": "2001", "authors": "Chen EY, Mazure NM, Cooper JA, Giaccia AJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11289110", "url": "https://glygen.org/publication/PubMed/11289110" } ] }, { "title": "Akt mediates insulin induction of glucose uptake and up-regulation of GLUT4 gene expression in brown adipocytes.", "journal": "FEBS letters", "date": "2001", "authors": "Hernandez R, Teruel T, Lorenzo M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11311245", "url": "https://glygen.org/publication/PubMed/11311245" } ] }, { "title": "Activation of Akt/protein kinase B contributes to induction of ischemic tolerance in the CA1 subfield of gerbil hippocampus.", "journal": "Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism", "date": "2001", "authors": "Yano S, Morioka M, Fukunaga K, Kawano T, Hara T, Kai Y, Hamada J, Miyamoto E, Ushio Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11323521", "url": "https://glygen.org/publication/PubMed/11323521" } ] }, { "title": "Zinc has an insulin-like effect on glucose transport mediated by phosphoinositol-3-kinase and Akt in 3T3-L1 fibroblasts and adipocytes.", "journal": "The Journal of nutrition", "date": "2001-05", "authors": "Tang X, Shay N F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11340092", "url": "https://glygen.org/publication/PubMed/11340092" } ] }, { "title": "Mitogen- and stress-activated protein kinase 1 mediates activation of Akt by ultraviolet B irradiation.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Nomura M, Kaji A, Ma WY, Zhong S, Liu G, Bowden GT, Miyamoto KI, Dong Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11350959", "url": "https://glygen.org/publication/PubMed/11350959" } ] }, { "title": "Akt/protein kinase B is constitutively active in non-small cell lung cancer cells and promotes cellular survival and resistance to chemotherapy and radiation.", "journal": "Cancer research", "date": "2001", "authors": "Brognard J, Clark AS, Ni Y, Dennis PA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11358816", "url": "https://glygen.org/publication/PubMed/11358816" } ] }, { "title": "Activation of the phosphatidylinositol 3-kinase-Akt/protein kinase B signaling pathway in arachidonic acid-stimulated human myeloid and endothelial cells: involvement of the ErbB receptor family.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Hii CS, Moghadammi N, Dunbar A, Ferrante A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11359783", "url": "https://glygen.org/publication/PubMed/11359783" } ] }, { "title": "Roles of Akt and glycogen synthase kinase 3beta in the ultraviolet B induction of cyclooxygenase-2 transcription in human keratinocytes.", "journal": "Cancer research", "date": "2001", "authors": "Tang Q, Gonzales M, Inoue H, Bowden GT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11389054", "url": "https://glygen.org/publication/PubMed/11389054" } ] }, { "title": "Activation of phosphatidylinositol 3 kinase by muscarinic receptors in astrocytoma cells.", "journal": "Neuroreport", "date": "2001-06-13", "authors": "Guizzetti M, Costa L G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11409731", "url": "https://glygen.org/publication/PubMed/11409731" } ] }, { "title": "A phosphatidylinositol 3-kinase docking site in the cytoplasmic tail of the Jaagsiekte sheep retrovirus transmembrane protein is essential for envelope-induced transformation of NIH 3T3 cells.", "journal": "Journal of virology", "date": "2001-11", "authors": "Palmarini M, Maeda N, Murgia C, De-Fraja C, Hofacre A, Fan H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11602740", "url": "https://glygen.org/publication/PubMed/11602740" } ] }, { "title": "Ceramide mediates insulin resistance by tumor necrosis factor-alpha in brown adipocytes by maintaining Akt in an inactive dephosphorylated state.", "journal": "Diabetes", "date": "2001", "authors": "Teruel T, Hernandez R, Lorenzo M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11679435", "url": "https://glygen.org/publication/PubMed/11679435" } ] }, { "title": "Focal cerebral ischemia causes two temporal waves of Akt activation.", "journal": "Neuroreport", "date": "2001", "authors": "Friguls B, Justicia C, Pallas M, Planas AM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11711890", "url": "https://glygen.org/publication/PubMed/11711890" } ] }, { "title": "Distinct phosphorylation patterns underlie Akt activation by different survival factors in neurons.", "journal": "Brain research. Molecular brain research", "date": "2001", "authors": "Kumari S, Liu X, Nguyen T, Zhang X, D'Mello SR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11731021", "url": "https://glygen.org/publication/PubMed/11731021" } ] }, { "title": "Akt activation by estrogen in estrogen receptor-negative breast cancer cells.", "journal": "Cancer research", "date": "2001", "authors": "Tsai EM, Wang SC, Lee JN, Hung MC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11731414", "url": "https://glygen.org/publication/PubMed/11731414" } ] }, { "title": "PDK2: a complex tail in one Akt.", "journal": "Science's STKE : signal transduction knowledge environment", "date": "2001", "authors": "Chan TO, Tsichlis PN", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11752635", "url": "https://glygen.org/publication/PubMed/11752635" } ] }, { "title": "AKT proto-oncogene overexpression is an early event during sporadic colon carcinogenesis.", "journal": "Carcinogenesis", "date": "2002", "authors": "Roy HK, Olusola BF, Clemens DL, Karolski WJ, Ratashak A, Lynch HT, Smyrk TC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11756242", "url": "https://glygen.org/publication/PubMed/11756242" } ] }, { "title": "IL-10 promotes survival of microglia without activating Akt.", "journal": "Journal of neuroimmunology", "date": "2002", "authors": "Strle K, Zhou JH, Broussard SR, Venters HD, Johnson RW, Freund GG, Dantzer R, Kelley KW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11777539", "url": "https://glygen.org/publication/PubMed/11777539" } ] }, { "title": "The effects of intracellular calcium depletion on insulin signaling in 3T3-L1 adipocytes.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2002-02", "authors": "Worrall Dorothy Sears, Olefsky Jerrold M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11818508", "url": "https://glygen.org/publication/PubMed/11818508" } ] }, { "title": "Protein kinase B is regulated in platelets by the collagen receptor glycoprotein VI.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Barry FA, Gibbins JM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11825911", "url": "https://glygen.org/publication/PubMed/11825911" } ] }, { "title": "Phosphatidylinositol 3-kinase is a central mediator of NMDA receptor signalling to MAP kinase (Erk1/2), Akt/PKB and CREB in striatal neurones.", "journal": "Journal of neurochemistry", "date": "2002-01", "authors": "Perkinton Michael S, Ip James K, Wood Gemma L, Crossthwaite Andrew J, Williams Robert J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11902114", "url": "https://glygen.org/publication/PubMed/11902114" } ] }, { "title": "Phosphorylation of HDM2 by Akt.", "journal": "Oncogene", "date": "2002", "authors": "Ashcroft M, Ludwig RL, Woods DB, Copeland TD, Weber HO, MacRae EJ, Vousden KH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11960368", "url": "https://glygen.org/publication/PubMed/11960368" } ] }, { "title": "Celecoxib induces apoptosis by inhibiting 3-phosphoinositide-dependent protein kinase-1 activity in the human colon cancer HT-29 cell line.", "journal": "The Journal of biological chemistry", "date": "2002-08-02", "authors": "Arico Sebastien, Pattingre Sophie, Bauvy Chantal, Gane Pierre, Barbat Alain, Codogno Patrice, Ogier-Denis Eric", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12000750", "url": "https://glygen.org/publication/PubMed/12000750" } ] }, { "title": "Activation of the phosphatidylinositol 3-kinase/Akt signaling pathway by retinoic acid is required for neural differentiation of SH-SY5Y human neuroblastoma cells.", "journal": "The Journal of biological chemistry", "date": "2002-07-12", "authors": "L\u00f3pez-Carballo Gracia, Moreno Lucrecia, Masi\u00e1 Susana, P\u00e9rez Paloma, Barettino Domingo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12000752", "url": "https://glygen.org/publication/PubMed/12000752" } ] }, { "title": "TNF inhibited the apoptosis by activation of Akt serine/threonine kinase in the human head and neck squamous cell carcinoma.", "journal": "Cellular signalling", "date": "2002", "authors": "Sandra F, Matsuki NA, Takeuchi H, Ikebe T, Kanematsu T, Ohishi M, Hirata M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12034358", "url": "https://glygen.org/publication/PubMed/12034358" } ] }, { "title": "The in vitro and in vivo effects of 2-(4-morpholinyl)-8-phenyl-chromone (LY294002), a specific inhibitor of phosphatidylinositol 3'-kinase, in human colon cancer cells.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2002", "authors": "Semba S, Itoh N, Ito M, Harada M, Yamakawa M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12060641", "url": "https://glygen.org/publication/PubMed/12060641" } ] }, { "title": "Invited review: effect of acute exercise on insulin signaling and action in humans.", "journal": "Journal of applied physiology (Bethesda, Md. : 1985)", "date": "2002-07", "authors": "Wojtaszewski J\u00f8rgen F P, Nielsen Jakob N, Richter Erik A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12070228", "url": "https://glygen.org/publication/PubMed/12070228" } ] }, { "title": "Phosphatidylinositol 3-kinase controls antineutrophil cytoplasmic antibodies-induced respiratory burst in human neutrophils.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2002", "authors": "Kettritz R, Choi M, Butt W, Rane M, Rolle S, Luft FC, Klein JB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12089369", "url": "https://glygen.org/publication/PubMed/12089369" } ] }, { "title": "Integrin (alpha 6 beta 4) regulation of eIF-4E activity and VEGF translation: a survival mechanism for carcinoma cells.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Chung J, Bachelder RE, Lipscomb EA, Shaw LM, Mercurio AM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12105188", "url": "https://glygen.org/publication/PubMed/12105188" } ] }, { "title": "Phosphorylation of Akt/PKB is required for suppression of cancer cell apoptosis and tumor progression in human colorectal carcinoma.", "journal": "Cancer", "date": "2002", "authors": "Itoh N, Semba S, Ito M, Takeda H, Kawata S, Yamakawa M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12115344", "url": "https://glygen.org/publication/PubMed/12115344" } ] }, { "title": "Ganglioside loss promotes survival primarily by activating integrin-linked kinase/Akt without phosphoinositide 3-OH kinase signaling.", "journal": "The Journal of investigative dermatology", "date": "2002", "authors": "Sun P, Wang XQ, Lopatka K, Bangash S, Paller AS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12164932", "url": "https://glygen.org/publication/PubMed/12164932" } ] }, { "title": "N-Ethylmaleimide inhibits platelet-derived growth factor BB-stimulated Akt phosphorylation via activation of protein phosphatase 2A.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Yellaturu CR, Bhanoori M, Neeli I, Rao GN", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12171932", "url": "https://glygen.org/publication/PubMed/12171932" } ] }, { "title": "Akt activation induced by lysophosphatidic acid and sphingosine-1-phosphate requires both mitogen-activated protein kinase kinase and p38 mitogen-activated protein kinase and is cell-line specific.", "journal": "Molecular pharmacology", "date": "2002", "authors": "Baudhuin LM, Cristina KL, Lu J, Xu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12181443", "url": "https://glygen.org/publication/PubMed/12181443" } ] }, { "title": "Cell adhesion regulates platelet-derived growth factor-induced MAP kinase and PI-3 kinase activation in stellate cells.", "journal": "Hepatology (Baltimore, Md.)", "date": "2002-09", "authors": "Carloni Vinicio, Defranco Raffaella M S, Caligiuri Alessandra, Gentilini Alessandra, Sciammetta Silvia Cappadona, Baldi Elisabetta, Lottini Benedetta, Gentilini Paolo, Pinzani Massimo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12198650", "url": "https://glygen.org/publication/PubMed/12198650" } ] }, { "title": "Gene expressions in Jurkat cells poisoned by a sulphur mustard vesicant and the induction of apoptosis.", "journal": "British journal of pharmacology", "date": "2002", "authors": "Zhang P, Ng P, Caridha D, Leach RA, Asher LV, Novak MJ, Smith WJ, Zeichner SL, Chiang PK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12208782", "url": "https://glygen.org/publication/PubMed/12208782" } ] }, { "title": "Flow cytometric detection of total and serine 473 phosphorylated Akt.", "journal": "Journal of cellular biochemistry", "date": "2002", "authors": "Tazzari PL, Cappellini A, Bortul R, Ricci F, Billi AM, Tabellini G, Conte R, Martelli AM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12210737", "url": "https://glygen.org/publication/PubMed/12210737" } ] }, { "title": "Membrane localization of Src homology 2-containing inositol 5'-phosphatase 2 via Shc association is required for the negative regulation of insulin signaling in Rat1 fibroblasts overexpressing insulin receptors.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2002", "authors": "Ishihara H, Sasaoka T, Ishiki M, Wada T, Hori H, Kagawa S, Kobayashi M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12351701", "url": "https://glygen.org/publication/PubMed/12351701" } ] }, { "title": "Protective effect of adrenomedullin in mannitol-induced apoptosis.", "journal": "Apoptosis : an international journal on programmed cell death", "date": "2002", "authors": "Kim W, Moon SO, Sung MJ, Kim SH, Lee S, Kim HJ, Koh GY, Park SK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12370495", "url": "https://glygen.org/publication/PubMed/12370495" } ] }, { "title": "A novel form of constitutively active farnesylated Akt1 prevents mammary epithelial cells from anoikis and suppresses chemotherapy-induced apoptosis.", "journal": "British journal of cancer", "date": "2002", "authors": "Schmidt M, Hovelmann S, Beckers TL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12373610", "url": "https://glygen.org/publication/PubMed/12373610" } ] }, { "title": "Negative regulation of phosphatidylinositol 3-kinase and Akt signalling pathway by PKC.", "journal": "Cellular signalling", "date": "2003-01", "authors": "Wen Hui C, Huang Wan C, Ali Adnan, Woodgett James R, Lin Wan W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12401518", "url": "https://glygen.org/publication/PubMed/12401518" } ] }, { "title": "Overexpression of the Csk homologous kinase facilitates phosphorylation of Akt/PKB in MCF-7 cells.", "journal": "International journal of oncology", "date": "2002", "authors": "Zagozdzon R, Bougeret C, Fu Y, Avraham HK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12429987", "url": "https://glygen.org/publication/PubMed/12429987" } ] }, { "title": "Resistance to chemotherapy mediated by TrkB in neuroblastomas.", "journal": "Cancer research", "date": "2002", "authors": "Ho R, Eggert A, Hishiki T, Minturn JE, Ikegaki N, Foster P, Camoratto AM, Evans AE, Brodeur GM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12438236", "url": "https://glygen.org/publication/PubMed/12438236" } ] }, { "title": "Requirement for PIKfyve enzymatic activity in acute and long-term insulin cellular effects.", "journal": "Endocrinology", "date": "2002-12", "authors": "Ikonomov Ognian C, Sbrissa Diego, Mlak Krzysztof, Shisheva Assia", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12446602", "url": "https://glygen.org/publication/PubMed/12446602" } ] }, { "title": "Amino acids stimulate translation initiation and protein synthesis through an Akt-independent pathway in human skeletal muscle.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2002", "authors": "Liu Z, Jahn LA, Wei L, Long W, Barrett EJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12466352", "url": "https://glygen.org/publication/PubMed/12466352" } ] }, { "title": "Regulation of Akt and glycogen synthase kinase-3 beta phosphorylation by sodium valproate and lithium.", "journal": "Neuropharmacology", "date": "2002", "authors": "De Sarno P, Li X, Jope RS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12504922", "url": "https://glygen.org/publication/PubMed/12504922" } ] }, { "title": "The phosphoinositide 3-kinase/AKT1 pathway involvement in drug and all-trans-retinoic acid resistance of leukemia cells.", "journal": "Molecular cancer research : MCR", "date": "2003", "authors": "Neri LM, Borgatti P, Tazzari PL, Bortul R, Cappellini A, Tabellini G, Bellacosa A, Capitani S, Martelli AM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12556562", "url": "https://glygen.org/publication/PubMed/12556562" } ] }, { "title": "Apoptosis protection and survival signal by the CD53 tetraspanin antigen.", "journal": "Oncogene", "date": "2003-02-27", "authors": "Yunta M\u00f3nica, Lazo Pedro A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12606948", "url": "https://glygen.org/publication/PubMed/12606948" } ] }, { "title": "Activation of endothelial nitric-oxide synthase by tumor necrosis factor-alpha: a novel pathway involving sequential activation of neutral sphingomyelinase, phosphatidylinositol-3' kinase, and Akt.", "journal": "Molecular pharmacology", "date": "2003", "authors": "Barsacchi R, Perrotta C, Bulotta S, Moncada S, Borgese N, Clementi E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12644590", "url": "https://glygen.org/publication/PubMed/12644590" } ] }, { "title": "Reversal of Taxol resistance in hepatoma by cyclosporin A: involvement of the PI-3 kinase-AKT 1 pathway.", "journal": "British journal of cancer", "date": "2003", "authors": "Lin HL, Lui WY, Liu TY, Chi CW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12644839", "url": "https://glygen.org/publication/PubMed/12644839" } ] }, { "title": "Selective Akt inactivation and tumor necrosis actor-related apoptosis-inducing ligand sensitization of renal cancer cells by low concentrations of paclitaxel.", "journal": "Cancer research", "date": "2003", "authors": "Asakuma J, Sumitomo M, Asano T, Asano T, Hayakawa M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12649200", "url": "https://glygen.org/publication/PubMed/12649200" } ] }, { "title": "CH-ILKBP regulates cell survival by facilitating the membrane translocation of protein kinase B/Akt.", "journal": "The Journal of cell biology", "date": "2003", "authors": "Fukuda T, Guo L, Shi X, Wu C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12654898", "url": "https://glygen.org/publication/PubMed/12654898" } ] }, { "title": "Phosphorylated Akt/PKB controls cell growth and apoptosis in intraductal papillary-mucinous tumor and invasive ductal adenocarcinoma of the pancreas.", "journal": "Pancreas", "date": "2003", "authors": "Semba S, Moriya T, Kimura W, Yamakawa M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12657951", "url": "https://glygen.org/publication/PubMed/12657951" } ] }, { "title": "Phosphoinositide-dependent kinase-2 is a distinct protein kinase enriched in a novel cytoskeletal fraction associated with adipocyte plasma membranes.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Hresko RC, Murata H, Mueckler M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12682057", "url": "https://glygen.org/publication/PubMed/12682057" } ] }, { "title": "Conditional knock-out of integrin-linked kinase demonstrates an essential role in protein kinase B/Akt activation.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Troussard AA, Mawji NM, Ong C, Mui A, St -Arnaud R, Dedhar S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12686550", "url": "https://glygen.org/publication/PubMed/12686550" } ] }, { "title": "Angiotensin II modulates nitric oxide-induced cardiac fibroblast apoptosis by activation of AKT/PKB.", "journal": "American journal of physiology. Heart and circulatory physiology", "date": "2003", "authors": "Tian B, Liu J, Bitterman P, Bache RJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12763754", "url": "https://glygen.org/publication/PubMed/12763754" } ] }, { "title": "Inhibition of Akt phosphorylation by thrombin, histamine and lysophosphatidylcholine in endothelial cells. Differential role of protein kinase C.", "journal": "Atherosclerosis", "date": "2003-06", "authors": "Thors Brynhildur, Halld\u00f3rsson Haraldur, Clarke Gudrun D, Thorgeirsson Gudmundur", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12801607", "url": "https://glygen.org/publication/PubMed/12801607" } ] }, { "title": "Cooperation between insulin and leptin in the modulation of vascular tone.", "journal": "Hypertension (Dallas, Tex. : 1979)", "date": "2003", "authors": "Vecchione C, Aretini A, Maffei A, Marino G, Selvetella G, Poulet R, Trimarco V, Frati G, Lembo G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12835332", "url": "https://glygen.org/publication/PubMed/12835332" } ] }, { "title": "Roles of the PI-3K and MEK pathways in Ras-mediated chemoresistance in breast cancer cells.", "journal": "British journal of cancer", "date": "2003", "authors": "Jin W, Wu L, Liang K, Liu B, Lu Y, Fan Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12838322", "url": "https://glygen.org/publication/PubMed/12838322" } ] }, { "title": "Hepatitis B Virus X protein modulates the expression of PTEN by inhibiting the function of p53, a transcriptional activator in liver cells.", "journal": "Cancer research", "date": "2003", "authors": "Chung TW, Lee YC, Ko JH, Kim CH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12839924", "url": "https://glygen.org/publication/PubMed/12839924" } ] }, { "title": "Increased phospho-AKT (Ser(473)) expression in bronchial dysplasia: implications for lung cancer prevention studies.", "journal": "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "date": "2003", "authors": "Tsao AS, McDonnell T, Lam S, Putnam JB, Bekele N, Hong WK, Kurie JM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12869408", "url": "https://glygen.org/publication/PubMed/12869408" } ] }, { "title": "Hydrogen peroxide inhibits insulin signaling in vascular smooth muscle cells.", "journal": "Experimental biology and medicine (Maywood, N.J.)", "date": "2003", "authors": "Gardner CD, Eguchi S, Reynolds CM, Eguchi K, Frank GD, Motley ED", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12876303", "url": "https://glygen.org/publication/PubMed/12876303" } ] }, { "title": "Regulatory role of cAMP on expression of Cdk4 and p27(Kip1) by inhibiting phosphatidylinositol 3-kinase in corneal endothelial cells.", "journal": "Investigative ophthalmology & visual science", "date": "2003", "authors": "Lee HT, Kay EP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12939297", "url": "https://glygen.org/publication/PubMed/12939297" } ] }, { "title": "Integrin-linked kinase is a positive mediator of L6 myoblast differentiation.", "journal": "Biochemical and biophysical research communications", "date": "2003-10-24", "authors": "Miller Mathew G, Naruszewicz Izabela, Kumar Ashu S, Ramlal Toolsie, Hannigan Gregory E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14550274", "url": "https://glygen.org/publication/PubMed/14550274" } ] }, { "title": "PINCH-1 is an obligate partner of integrin-linked kinase (ILK) functioning in cell shape modulation, motility, and survival.", "journal": "The Journal of biological chemistry", "date": "2003-12-19", "authors": "Fukuda Tomohiko, Chen Ka, Shi Xiaohua, Wu Chuanyue", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14551191", "url": "https://glygen.org/publication/PubMed/14551191" } ] }, { "title": "Akt activation disrupts mammary acinar architecture and enhances proliferation in an mTOR-dependent manner.", "journal": "The Journal of cell biology", "date": "2003", "authors": "Debnath J, Walker SJ, Brugge JS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14568991", "url": "https://glygen.org/publication/PubMed/14568991" } ] }, { "title": "Levels of PTEN protein modulate Akt phosphorylation on serine 473, but not on threonine 308, in IGF-II-overexpressing rhabdomyosarcomas cells.", "journal": "Oncogene", "date": "2003", "authors": "Wan X, Helman LJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14603261", "url": "https://glygen.org/publication/PubMed/14603261" } ] }, { "title": "Adenovirus E4 gene promotes selective endothelial cell survival and angiogenesis via activation of the vascular endothelial-cadherin/Akt signaling pathway.", "journal": "The Journal of biological chemistry", "date": "2004-03-19", "authors": "Zhang Fan, Cheng Joseph, Hackett Neil R, Lam George, Shido Koji, Pergolizzi Robert, Jin David K, Crystal Ronald G, Rafii Shahin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14660586", "url": "https://glygen.org/publication/PubMed/14660586" } ] }, { "title": "Androgen receptor mediates non-genomic activation of phosphatidylinositol 3-OH kinase in androgen-sensitive epithelial cells.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Baron S, Manin M, Beaudoin C, Leotoing L, Communal Y, Veyssiere G, Morel L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14668339", "url": "https://glygen.org/publication/PubMed/14668339" } ] }, { "title": "Ras GTPase-activating protein binds to Akt and is required for its activation.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Yue Y, Lypowy J, Hedhli N, Abdellatif M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14707121", "url": "https://glygen.org/publication/PubMed/14707121" } ] }, { "title": "[Signal transduction and development of drug for brain ischemic insult].", "journal": "Nihon yakurigaku zasshi. Folia pharmacologica Japonica", "date": "2003", "authors": "Fukunaga K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14727512", "url": "https://glygen.org/publication/PubMed/14727512" } ] }, { "title": "Latent membrane protein 2A inhibits transforming growth factor-beta 1-induced apoptosis through the phosphatidylinositol 3-kinase/Akt pathway.", "journal": "Journal of virology", "date": "2004", "authors": "Fukuda M, Longnecker R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14747535", "url": "https://glygen.org/publication/PubMed/14747535" } ] }, { "title": "Insulin regulates hepatic apolipoprotein B production independent of the mass or activity of Akt1/PKBalpha.", "journal": "Metabolism: clinical and experimental", "date": "2004", "authors": "Au CS, Wagner A, Chong T, Qiu W, Sparks JD, Adeli K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14767876", "url": "https://glygen.org/publication/PubMed/14767876" } ] }, { "title": "Polarity and proliferation are controlled by distinct signaling pathways downstream of PI3-kinase in breast epithelial tumor cells.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Liu H, Radisky DC, Wang F, Bissell MJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14769856", "url": "https://glygen.org/publication/PubMed/14769856" } ] }, { "title": "Activation of aPKC is required for vanadate-induced phosphorylation of protein kinase B (Akt), but not p70S6k in mouse epidermal JB6 cells.", "journal": "Molecular and cellular biochemistry", "date": "2004", "authors": "Li J, Dokka S, Wang L, Shi X, Castranova V, Yan Y, Costa M, Huang C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14971662", "url": "https://glygen.org/publication/PubMed/14971662" } ] }, { "title": "Vanadate activated Akt and promoted S phase entry.", "journal": "Molecular and cellular biochemistry", "date": "2004", "authors": "Zhang Z, Gao N, He H, Huang C, Luo J, Shi X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14971663", "url": "https://glygen.org/publication/PubMed/14971663" } ] }, { "title": "Apoptosis signaling by the novel compound 3-Cl-AHPC involves increased EGFR proteolysis and accompanying decreased phosphatidylinositol 3-kinase and AKT kinase activities.", "journal": "Oncogene", "date": "2004", "authors": "Farhana L, Dawson MI, Huang Y, Zhang Y, Rishi AK, Reddy KB, Freeman RS, Fontana JA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14981538", "url": "https://glygen.org/publication/PubMed/14981538" } ] }, { "title": "Tamoxifen and tamoxifen ethyl bromide induce apoptosis in acutely damaged mammary epithelial cells through modulation of AKT activity.", "journal": "Oncogene", "date": "2004", "authors": "Dietze EC, Troch MM, Bean GR, Heffner JB, Bowie ML, Rosenberg P, Ratliff B, Seewaldt VL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14990993", "url": "https://glygen.org/publication/PubMed/14990993" } ] }, { "title": "Impaired expression and insulin-stimulated phosphorylation of Akt-2 in muscle of obese patients with atypical diabetes.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2004", "authors": "Gosmanov AR, Umpierrez GE, Karabell AH, Cuervo R, Thomason DB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15010337", "url": "https://glygen.org/publication/PubMed/15010337" } ] }, { "title": "Modulation of insulin effects on phosphorylation of protein kinase B and glycogen synthesis by tumor necrosis factor-alpha in HepG2 cells.", "journal": "Biochimica et biophysica acta", "date": "2004", "authors": "Gupta D, Khandelwal RL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15026145", "url": "https://glygen.org/publication/PubMed/15026145" } ] }, { "title": "Integrin-linked kinase function is required for transforming growth factor beta-mediated epithelial to mesenchymal transition.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Lee YI, Kwon YJ, Joo CK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15044083", "url": "https://glygen.org/publication/PubMed/15044083" } ] }, { "title": "Hemangiopoietin inhibits apoptosis of MO7e leukemia cells through phosphatidylinositol 3-kinase-AKT pathway.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Zhan M, Han ZC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15047168", "url": "https://glygen.org/publication/PubMed/15047168" } ] }, { "title": "TOR kinase and Ran are downstream from PI3K/Akt in H2O2-induced mitosis.", "journal": "Journal of cellular biochemistry", "date": "2004", "authors": "Radisavljevic ZM, Gonzalez-Flecha B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15048882", "url": "https://glygen.org/publication/PubMed/15048882" } ] }, { "title": "4-Hydroxy estradiol but not 2-hydroxy estradiol induces expression of hypoxia-inducible factor 1alpha and vascular endothelial growth factor A through phosphatidylinositol 3-kinase/Akt/FRAP pathway in OVCAR-3 and A2780-CP70 human ovarian carcinoma cells.", "journal": "Toxicology and applied pharmacology", "date": "2004", "authors": "Gao N, Nester RA, Sarkar MA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15050414", "url": "https://glygen.org/publication/PubMed/15050414" } ] }, { "title": "Role of p38 MAPK and MAPKAPK-2 in angiotensin II-induced Akt activation in vascular smooth muscle cells.", "journal": "American journal of physiology. Cell physiology", "date": "2004", "authors": "Taniyama Y, Ushio-Fukai M, Hitomi H, Rocic P, Kingsley MJ, Pfahnl C, Weber DS, Alexander RW, Griendling KK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15084475", "url": "https://glygen.org/publication/PubMed/15084475" } ] }, { "title": "Novel expression of N-cadherin elicits in vitro bladder cell invasion via the Akt signaling pathway.", "journal": "Oncogene", "date": "2004-06-10", "authors": "Rieger-Christ Kimberly M, Lee Peter, Zagha Ralph, Kosakowski Monika, Moinzadeh Alireza, Stoffel John, Ben-Ze'ev Avri, Libertino John A, Summerhayes Ian C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15122336", "url": "https://glygen.org/publication/PubMed/15122336" } ] }, { "title": "Ang II attenuates IGF-1-stimulated Na+, K(+)-ATPase activity via PI3K/Akt pathway in vascular smooth muscle cells.", "journal": "International journal of molecular medicine", "date": "2004", "authors": "Isenovic ER, Meng Y, Jamali N, Milivojevic N, Sowers JR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15138635", "url": "https://glygen.org/publication/PubMed/15138635" } ] }, { "title": "Molecular alterations in apoptotic pathways after PKB/Akt-mediated chemoresistance in NCI H460 cells.", "journal": "British journal of cancer", "date": "2004", "authors": "Hovelmann S, Beckers TL, Schmidt M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15150572", "url": "https://glygen.org/publication/PubMed/15150572" } ] }, { "title": "Regulation of protein kinase B/Akt activity and Ser473 phosphorylation by protein kinase Calpha in endothelial cells.", "journal": "Cellular signalling", "date": "2004", "authors": "Partovian C, Simons M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15157674", "url": "https://glygen.org/publication/PubMed/15157674" } ] }, { "title": "Molecular alterations associated with LNCaP cell progression to androgen independence.", "journal": "The Prostate", "date": "2004-08-01", "authors": "Shi Xu-Bao, Ma Ai-Hong, Tepper Clifford G, Xia Liang, Gregg Jeffrey P, Gandour-Edwards Regina, Mack Philip C, Kung Hsing-Jien, deVere White Ralph W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15176055", "url": "https://glygen.org/publication/PubMed/15176055" } ] }, { "title": "Positive correlation between overexpression of phospho-BAD with phosphorylated Akt at serine 473 but not threonine 308 in colorectal carcinoma.", "journal": "Cancer letters", "date": "2004", "authors": "Khor TO, Gul YA, Ithnin H, Seow HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-198323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198323" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15183529", "url": "https://glygen.org/publication/PubMed/15183529" } ] }, { "title": "Phosphorylation of Akt (Ser473) is an excellent predictor of poor clinical outcome in prostate cancer.", "journal": "Cancer research", "date": "2004", "authors": "Kreisberg JI, Malik SN, Prihoda TJ, Bedolla RG, Troyer DA, Kreisberg S, Ghosh PM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15289328", "url": "https://glygen.org/publication/PubMed/15289328" } ] }, { "title": "Switch from alphavbeta5 to alphavbeta6 integrin expression protects squamous cell carcinomas from anoikis.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Janes SM, Watt FM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15289499", "url": "https://glygen.org/publication/PubMed/15289499" } ] }, { "title": "beta1-Integrins induce phosphorylation of Akt on serine 473 independently of focal adhesion kinase and Src family kinases.", "journal": "EMBO reports", "date": "2004", "authors": "Velling T, Nilsson S, Stefansson A, Johansson S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15309026", "url": "https://glygen.org/publication/PubMed/15309026" } ] }, { "title": "Inhibition of Rho-kinase leads to rapid activation of phosphatidylinositol 3-kinase/protein kinase Akt and cardiovascular protection.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2004", "authors": "Wolfrum S, Dendorfer A, Rikitake Y, Stalker TJ, Gong Y, Scalia R, Dominiak P, Liao JK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15319269", "url": "https://glygen.org/publication/PubMed/15319269" } ] }, { "title": "Detection of serine 473 phosphorylated Akt in acute myeloid leukaemia blasts by flow cytometry.", "journal": "British journal of haematology", "date": "2004", "authors": "Tazzari PL, Cappellini A, Grafone T, Mantovani I, Ricci F, Billi AM, Ottaviani E, Conte R, Martinelli G, Martelli AM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15327518", "url": "https://glygen.org/publication/PubMed/15327518" } ] }, { "title": "RhoA activation mediates phosphatidylinositol 3-kinase-dependent proliferation of human vascular endothelial cells: an alloimmune mechanism of chronic allograft nephropathy.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2004", "authors": "Coupel S, Leboeuf F, Boulday G, Soulillou JP, Charreau B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15339992", "url": "https://glygen.org/publication/PubMed/15339992" } ] }, { "title": "Activation of PI3K is indispensable for interleukin 7-mediated viability, proliferation, glucose use, and growth of T cell acute lymphoblastic leukemia cells.", "journal": "The Journal of experimental medicine", "date": "2004", "authors": "Barata JT, Silva A, Brandao JG, Nadler LM, Cardoso AA, Boussiotis VA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15353558", "url": "https://glygen.org/publication/PubMed/15353558" } ] }, { "title": "Akt/protein kinase B and endothelial nitric oxide synthase mediate muscular neovascularization induced by tissue kallikrein gene transfer.", "journal": "Circulation", "date": "2004-09-21", "authors": "Emanueli Costanza, Salis Maria B, Van Linthout Sophie, Meloni Marco, Desortes Elisa, Silvestre Jean-Sebastien, Clergue Michel, Figueroa Carlos D, Gadau Sergio, Condorelli Gianluigi, Madeddu Paolo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15364809", "url": "https://glygen.org/publication/PubMed/15364809" } ] }, { "title": "Protein kinase C betaII regulates Akt phosphorylation on Ser-473 in a cell type- and stimulus-specific fashion.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kawakami Y, Nishimoto H, Kitaura J, Maeda-Yamamoto M, Kato RM, Littman DR, Leitges M, Rawlings DJ, Kawakami T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15364915", "url": "https://glygen.org/publication/PubMed/15364915" } ] }, { "title": "Effect of overexpression and nuclear translocation of constitutively active PKB-alpha on cellular survival and proliferation in HepG2 cells.", "journal": "Journal of cellular biochemistry", "date": "2004", "authors": "Gupta D, Syed NA, Roesler WJ, Khandelwal RL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15372623", "url": "https://glygen.org/publication/PubMed/15372623" } ] }, { "title": "Identification and characterization of pleckstrin-homology-domain-dependent and isoenzyme-specific Akt inhibitors.", "journal": "The Biochemical journal", "date": "2005", "authors": "Barnett SF, Defeo-Jones D, Fu S, Hancock PJ, Haskell KM, Jones RE, Kahana JA, Kral AM, Leander K, Lee LL, Malinowski J, McAvoy EM, Nahas DD, Robinson RG, Huber HE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15456405", "url": "https://glygen.org/publication/PubMed/15456405" } ] }, { "title": "High levels of phosphorylated form of Akt-1 in prostate cancer and non-neoplastic prostate tissues are strong predictors of biochemical recurrence.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2004", "authors": "Ayala G, Thompson T, Yang G, Frolov A, Li R, Scardino P, Ohori M, Wheeler T, Harper W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15475446", "url": "https://glygen.org/publication/PubMed/15475446" } ] }, { "title": "Ganoderma lucidum suppresses growth of breast cancer cells through the inhibition of Akt/NF-kappaB signaling.", "journal": "Nutrition and cancer", "date": "2004", "authors": "Jiang J, Slivova V, Harvey K, Valachovicova T, Sliva D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15489214", "url": "https://glygen.org/publication/PubMed/15489214" } ] }, { "title": "Inhibition of AKT survival pathway by a small molecule inhibitor in human endometrial cancer cells.", "journal": "British journal of cancer", "date": "2004", "authors": "Jin X, Gossett DR, Wang S, Yang D, Cao Y, Chen J, Guo R, Reynolds RK, Lin J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15505622", "url": "https://glygen.org/publication/PubMed/15505622" } ] }, { "title": "Full activation of PKB/Akt in response to insulin or ionizing radiation is mediated through ATM.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Viniegra JG, Martinez N, Modirassari P, Hernandez Losa J, Parada Cobo C, Sanchez-Arevalo Lobo VJ, Aceves Luquero CI, Alvarez-Vallina L, Ramon y Cajal S, Rojas JM, Sanchez-Prieto R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15546863", "url": "https://glygen.org/publication/PubMed/15546863" } ] }, { "title": "Inhibition of akt/protein kinase B signaling by naltrindole in small cell lung cancer cells.", "journal": "Cancer research", "date": "2004", "authors": "Chen YL, Law PY, Loh HH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15574783", "url": "https://glygen.org/publication/PubMed/15574783" } ] }, { "title": "Pharmacological and small interference RNA-mediated inhibition of breast cancer-associated fatty acid synthase (oncogenic antigen-519) synergistically enhances Taxol (paclitaxel)-induced cytotoxicity.", "journal": "International journal of cancer", "date": "2005", "authors": "Menendez JA, Vellon L, Colomer R, Lupu R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15657900", "url": "https://glygen.org/publication/PubMed/15657900" } ] }, { "title": "AND-34 activates phosphatidylinositol 3-kinase and induces anti-estrogen resistance in a SH2 and GDP exchange factor-like domain-dependent manner.", "journal": "Molecular cancer research : MCR", "date": "2005-01", "authors": "Felekkis Kyriacos N, Narsimhan Radha P, Near Richard, Castro Ariel F, Zheng Yi, Quilliam Lawrence A, Lerner Adam", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15671247", "url": "https://glygen.org/publication/PubMed/15671247" } ] }, { "title": "Interaction between Smad7 and beta-catenin: importance for transforming growth factor beta-induced apoptosis.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Edlund S, Lee SY, Grimsby S, Zhang S, Aspenstrom P, Heldin CH, Landstrom M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15684397", "url": "https://glygen.org/publication/PubMed/15684397" } ] }, { "title": "Suppression of phosphatidylinositol 3-kinase/Akt signaling pathway is a determinant of the sensitivity to a novel histone deacetylase inhibitor, FK228, in lung adenocarcinoma cells.", "journal": "Oncology reports", "date": "2005", "authors": "Kodani M, Igishi T, Matsumoto S, Chikumi H, Shigeoka Y, Nakanishi H, Morita M, Yasuda K, Hitsuda Y, Shimizu E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15706421", "url": "https://glygen.org/publication/PubMed/15706421" } ] }, { "title": "Pitavastatin at low dose activates endothelial nitric oxide synthase through PI3K-AKT pathway in endothelial cells.", "journal": "Life sciences", "date": "2005", "authors": "Wang J, Tokoro T, Matsui K, Higa S, Kitajima I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15733940", "url": "https://glygen.org/publication/PubMed/15733940" } ] }, { "title": "Expression of constitutively active Akt/protein kinase B signals GLUT4 translocation in the absence of an intact actin cytoskeleton.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Eyster CA, Duggins QS, Olson AL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15738003", "url": "https://glygen.org/publication/PubMed/15738003" } ] }, { "title": "Interleukin-6 acts as insulin sensitizer on glycogen synthesis in human skeletal muscle cells by phosphorylation of Ser473 of Akt.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2005", "authors": "Weigert C, Hennige AM, Brodbeck K, Haring HU, Schleicher ED", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15755769", "url": "https://glygen.org/publication/PubMed/15755769" } ] }, { "title": "Inhibition of ILK in PTEN-mutant human glioblastomas inhibits PKB/Akt activation, induces apoptosis, and delays tumor growth.", "journal": "Oncogene", "date": "2005-05-19", "authors": "Edwards Lincoln A, Thiessen B, Dragowska Wieslawa H, Daynard Tim, Bally Marcel B, Dedhar Shoukat", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15782140", "url": "https://glygen.org/publication/PubMed/15782140" } ] }, { "title": "Proapoptotic activity of cell-permeable anti-Akt single-chain antibodies.", "journal": "Cancer research", "date": "2005", "authors": "Shin I, Edl J, Biswas S, Lin PC, Mernaugh R, Arteaga CL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15805282", "url": "https://glygen.org/publication/PubMed/15805282" } ] }, { "title": "Enhancement of the therapeutic efficacy of taxol by the mitogen-activated protein kinase kinase inhibitor CI-1040 in nude mice bearing human heterotransplants.", "journal": "Cancer research", "date": "2005-04-01", "authors": "McDaid Hayley M, Lopez-Barcons Lluis, Grossman Aaron, Lia Marie, Keller Steven, P\u00e9rez-Soler Rom\u00e1n, Horwitz Susan Band", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15805287", "url": "https://glygen.org/publication/PubMed/15805287" } ] }, { "title": "Activated Akt expression in breast cancer: correlation with p53, Hdm2 and patient outcome.", "journal": "European journal of cancer (Oxford, England : 1990)", "date": "2005", "authors": "Vestey SB, Sen C, Calder CJ, Perks CM, Pignatelli M, Winters ZE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15862750", "url": "https://glygen.org/publication/PubMed/15862750" } ] }, { "title": "RNA interference demonstrates a novel role for integrin-linked kinase as a determinant of pancreatic adenocarcinoma cell gemcitabine chemoresistance.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2005", "authors": "Duxbury MS, Ito H, Benoit E, Waseem T, Ashley SW, Whang EE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15867245", "url": "https://glygen.org/publication/PubMed/15867245" } ] }, { "title": "The role of growth factor receptor pathways in human breast cancer cells adapted to long-term estrogen deprivation.", "journal": "Cancer research", "date": "2005-05-01", "authors": "Sabnis Gauri J, Jelovac Danijela, Long Brian, Brodie Angela", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15867390", "url": "https://glygen.org/publication/PubMed/15867390" } ] }, { "title": "The Akt inhibitor KP372-1 suppresses Akt activity and cell proliferation and induces apoptosis in thyroid cancer cells.", "journal": "British journal of cancer", "date": "2005", "authors": "Mandal M, Kim S, Younes MN, Jasser SA, El-Naggar AK, Mills GB, Myers JN", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15870708", "url": "https://glygen.org/publication/PubMed/15870708" } ] }, { "title": "Reduction of PTEN protein and loss of epidermal growth factor receptor gene mutation in lung cancer with natural resistance to gefitinib (IRESSA).", "journal": "British journal of cancer", "date": "2005", "authors": "Kokubo Y, Gemma A, Noro R, Seike M, Kataoka K, Matsuda K, Okano T, Minegishi Y, Yoshimura A, Shibuya M, Kudoh S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15870831", "url": "https://glygen.org/publication/PubMed/15870831" } ] }, { "title": "Insulin-stimulated phosphorylation of the Akt substrate AS160 is impaired in skeletal muscle of type 2 diabetic subjects.", "journal": "Diabetes", "date": "2005", "authors": "Karlsson HK, Zierath JR, Kane S, Krook A, Lienhard GE, Wallberg-Henriksson H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1445148", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1445148" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15919790", "url": "https://glygen.org/publication/PubMed/15919790" } ] }, { "title": "Apoptosis and inhibition of the phosphatidylinositol 3-kinase/Akt signaling pathway in the anti-proliferative actions of dehydroepiandrosterone.", "journal": "Journal of gastroenterology", "date": "2005-05", "authors": "Jiang Yanfang, Miyazaki Teruo, Honda Akira, Hirayama Takeshi, Yoshida Shigemasa, Tanaka Naomi, Matsuzaki Yasushi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15942714", "url": "https://glygen.org/publication/PubMed/15942714" } ] }, { "title": "Accumulation of cytoplasmic beta-catenin correlates with reduced expression of E-cadherin, but not with phosphorylated Akt in esophageal squamous cell carcinoma: immunohistochemical study.", "journal": "Pathology international", "date": "2005-06", "authors": "Zhang Guo, Zhou Xiaobo, Xue Liyan, Quan Lanping, Wang Yihua, Zhou Cuiqi, Lu Ning, Wang Quanhong, Zhu Hongxia, Xu Ningzhi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15943787", "url": "https://glygen.org/publication/PubMed/15943787" } ] }, { "title": "Leptin secretion by human ejaculated spermatozoa.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2005", "authors": "Aquila S, Gentile M, Middea E, Catalano S, Morelli C, Pezzi V, Ando S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15944217", "url": "https://glygen.org/publication/PubMed/15944217" } ] }, { "title": "Increased level of phosphorylated akt measured by chemiluminescence-linked immunosorbent assay is a predictor of poor prognosis in primary breast cancer overexpressing ErbB-2.", "journal": "Breast cancer research : BCR", "date": "2005", "authors": "Cicenas J, Urban P, Vuaroqueaux V, Labuhn M, Kung W, Wight E, Mayhew M, Eppenberger U, Eppenberger-Castori S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15987444", "url": "https://glygen.org/publication/PubMed/15987444" } ] }, { "title": "Dissociation of Akt1 from its negative regulator JIP1 is mediated through the ASK1-MEK-JNK signal transduction pathway during metabolic oxidative stress: a negative feedback loop.", "journal": "The Journal of cell biology", "date": "2005", "authors": "Song JJ, Lee YJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15998799", "url": "https://glygen.org/publication/PubMed/15998799" } ] }, { "title": "Identification of N10-substituted phenoxazines as potent and specific inhibitors of Akt signaling.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Thimmaiah KN, Easton JB, Germain GS, Morton CL, Kamath S, Buolamwini JK, Houghton PJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16009706", "url": "https://glygen.org/publication/PubMed/16009706" } ] }, { "title": "A novel role for Gab2 in bFGF-mediated cell survival during retinoic acid-induced neuronal differentiation.", "journal": "The Journal of cell biology", "date": "2005-07-18", "authors": "Mao Yingwei, Lee Angel W-M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16009726", "url": "https://glygen.org/publication/PubMed/16009726" } ] }, { "title": "Cellular death in hippocampus in response to PI3K pathway inhibition and oxygen and glucose deprivation.", "journal": "Neurochemical research", "date": "2005-03", "authors": "Horn Ana Paula, Gerhardt Dani\u00e9li, Geyer Augusto Bencke, Valentim Lauren, Cimarosti Helena, Tavares Alexandre, Horn Fabiana, Lenz Guido, Salbego Christianne", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16018579", "url": "https://glygen.org/publication/PubMed/16018579" } ] }, { "title": "Akt is frequently activated in HER2/neu-positive breast cancers and associated with poor prognosis among hormone-treated patients.", "journal": "International journal of cancer", "date": "2006", "authors": "Tokunaga E, Kimura Y, Oki E, Ueda N, Futatsugi M, Mashino K, Yamamoto M, Ikebe M, Kakeji Y, Baba H, Maehara Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16049961", "url": "https://glygen.org/publication/PubMed/16049961" } ] }, { "title": "The inhibitory effect of alendronate, a nitrogen-containing bisphosphonate on the PI3K-Akt-NFkappaB pathway in osteosarcoma cells.", "journal": "British journal of pharmacology", "date": "2005", "authors": "Inoue R, Matsuki NA, Jing G, Kanematsu T, Abe K, Hirata M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16100524", "url": "https://glygen.org/publication/PubMed/16100524" } ] }, { "title": "Insulin-like growth factor-I induces the phosphorylation and nuclear exclusion of forkhead transcription factors in human neuroblastoma cells.", "journal": "Apoptosis : an international journal on programmed cell death", "date": "2005", "authors": "Schwab TS, Madison BB, Grauman AR, Feldman EL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16133873", "url": "https://glygen.org/publication/PubMed/16133873" } ] }, { "title": "HIV protease inhibitors block Akt signaling and radiosensitize tumor cells both in vitro and in vivo.", "journal": "Cancer research", "date": "2005", "authors": "Gupta AK, Cerniglia GJ, Mick R, McKenna WG, Muschel RJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16166302", "url": "https://glygen.org/publication/PubMed/16166302" } ] }, { "title": "Differential responses to doxorubicin-induced phosphorylation and activation of Akt in human breast cancer cells.", "journal": "Breast cancer research : BCR", "date": "2005", "authors": "Li X, Lu Y, Liang K, Liu B, Fan Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16168102", "url": "https://glygen.org/publication/PubMed/16168102" } ] }, { "title": "Celecoxib analogues disrupt Akt signaling, which is commonly activated in primary breast tumours.", "journal": "Breast cancer research : BCR", "date": "2005", "authors": "Kucab JE, Lee C, Chen CS, Zhu J, Gilks CB, Cheang M, Huntsman D, Yorida E, Emerman J, Pollak M, Dunn SE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16168126", "url": "https://glygen.org/publication/PubMed/16168126" } ] }, { "title": "Diallyl trisulfide, a constituent of processed garlic, inactivates Akt to trigger mitochondrial translocation of BAD and caspase-mediated apoptosis in human prostate cancer cells.", "journal": "Carcinogenesis", "date": "2006", "authors": "Xiao D, Singh SV", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16169930", "url": "https://glygen.org/publication/PubMed/16169930" } ] }, { "title": "Coordinate regulation of forskolin-induced cellular proliferation in macrophages by protein kinase A/cAMP-response element-binding protein (CREB) and Epac1-Rap1 signaling: effects of silencing CREB gene expression on Akt activation.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Misra UK, Pizzo SV", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16172130", "url": "https://glygen.org/publication/PubMed/16172130" } ] }, { "title": "Evidence that Akt mediates platelet-derived growth factor-dependent increases in activity and surface expression of the neuronal glutamate transporter, EAAC1.", "journal": "Neuropharmacology", "date": "2005", "authors": "Krizman-Genda E, Gonzalez MI, Zelenaia O, Robinson MB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16182322", "url": "https://glygen.org/publication/PubMed/16182322" } ] }, { "title": "Role of focal adhesion kinase in flow-induced dilation of coronary arterioles.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2005", "authors": "Koshida R, Rocic P, Saito S, Kiyooka T, Zhang C, Chilian WM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16195476", "url": "https://glygen.org/publication/PubMed/16195476" } ] }, { "title": "Arachidonic acid inhibits the insulin induction of glucose-6-phosphate dehydrogenase via p38 MAP kinase.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Talukdar I, Szeszel-Fedorowicz W, Salati LM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16210322", "url": "https://glygen.org/publication/PubMed/16210322" } ] }, { "title": "mTOR.RICTOR is the Ser473 kinase for Akt/protein kinase B in 3T3-L1 adipocytes.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Hresko RC, Mueckler M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16221682", "url": "https://glygen.org/publication/PubMed/16221682" } ] }, { "title": "Zinc as an insulin replacement in hybridoma cultures.", "journal": "Biotechnology and bioengineering", "date": "2006", "authors": "Wong VV, Nissom PM, Sim SL, Yeo JH, Chuah SH, Yap MG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16224792", "url": "https://glygen.org/publication/PubMed/16224792" } ] }, { "title": "Targeting integrin-linked kinase inhibits Akt signaling pathways and decreases tumor progression of human glioblastoma.", "journal": "Molecular cancer therapeutics", "date": "2005", "authors": "Koul D, Shen R, Bergh S, Lu Y, de Groot JF, Liu TJ, Mills GB, Yung WK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16275989", "url": "https://glygen.org/publication/PubMed/16275989" } ] }, { "title": "Molecular analysis of the PI3K-AKT pathway in uterine cervical neoplasia: frequent PIK3CA amplification and AKT phosphorylation.", "journal": "International journal of cancer", "date": "2006-04-15", "authors": "Bertelsen Bj\u00f8rn I, Steine Solrun J, Sandvei Roar, Molven Anders, Laerum Ole Didrik", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16287065", "url": "https://glygen.org/publication/PubMed/16287065" } ] }, { "title": "Elevated phosphorylation and activation of PDK-1/AKT pathway in human breast cancer.", "journal": "British journal of cancer", "date": "2005", "authors": "Lin HJ, Hsieh FC, Song H, Lin J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16288304", "url": "https://glygen.org/publication/PubMed/16288304" } ] }, { "title": "Inhibition of EGFR signaling in human prostate cancer PC-3 cells by combination treatment with beta-phenylethyl isothiocyanate and curcumin.", "journal": "Carcinogenesis", "date": "2006", "authors": "Kim JH, Xu C, Keum YS, Reddy B, Conney A, Kong AN", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16299382", "url": "https://glygen.org/publication/PubMed/16299382" } ] }, { "title": "Skeletal muscle insulin signaling defects downstream of phosphatidylinositol 3-kinase at the level of Akt are associated with impaired nonoxidative glucose disposal in HIV lipodystrophy.", "journal": "Diabetes", "date": "2005", "authors": "Haugaard SB, Andersen O, Madsbad S, Frosig C, Iversen J, Nielsen JO, Wojtaszewski JF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16306364", "url": "https://glygen.org/publication/PubMed/16306364" } ] }, { "title": "High frequency of coexistent mutations of PIK3CA and PTEN genes in endometrial carcinoma.", "journal": "Cancer research", "date": "2005", "authors": "Oda K, Stokoe D, Taketani Y, McCormick F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16322209", "url": "https://glygen.org/publication/PubMed/16322209" } ] }, { "title": "Evaluation of two phosphorylation sites improves the prognostic significance of Akt activation in non-small-cell lung cancer tumors.", "journal": "Journal of clinical oncology : official journal of the American Society of Clinical Oncology", "date": "2006", "authors": "Tsurutani J, Fukuoka J, Tsurutani H, Shih JH, Hewitt SM, Travis WD, Jen J, Dennis PA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16330671", "url": "https://glygen.org/publication/PubMed/16330671" } ] }, { "title": "Frequent elevation of Akt kinase phosphorylation in blood marrow and peripheral blood mononuclear cells from high-risk myelodysplastic syndrome patients.", "journal": "Leukemia", "date": "2006", "authors": "Nyakern M, Tazzari PL, Finelli C, Bosi C, Follo MY, Grafone T, Piccaluga PP, Martinelli G, Cocco L, Martelli AM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16341040", "url": "https://glygen.org/publication/PubMed/16341040" } ] }, { "title": "In vitro and in vivo antitumor effects of the dual insulin-like growth factor-I/insulin receptor inhibitor, BMS-554417.", "journal": "Cancer research", "date": "2006", "authors": "Haluska P, Carboni JM, Loegering DA, Lee FY, Wittman M, Saulnier MG, Frennesson DB, Kalli KR, Conover CA, Attar RM, Kaufmann SH, Gottardis M, Erlichman C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16397250", "url": "https://glygen.org/publication/PubMed/16397250" } ] }, { "title": "Sphinganine causes early activation of JNK and p38 MAPK and inhibition of AKT activation in HT-29 human colon cancer cells.", "journal": "Anticancer research", "date": "2006", "authors": "Ahn EH, Schroeder JJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16475687", "url": "https://glygen.org/publication/PubMed/16475687" } ] }, { "title": "Cytotoxicity of a non-cyclooxygenase-2 inhibitory derivative of celecoxib in non-small-cell lung cancer A549 cells.", "journal": "Lung cancer (Amsterdam, Netherlands)", "date": "2006", "authors": "Tong Z, Wu X, Chen CS, Kehrer JP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16497409", "url": "https://glygen.org/publication/PubMed/16497409" } ] }, { "title": "Delineating the mechanism by which selenium deactivates Akt in prostate cancer cells.", "journal": "Molecular cancer therapeutics", "date": "2006", "authors": "Wu Y, Zu K, Warren MA, Wallace PK, Ip C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16505097", "url": "https://glygen.org/publication/PubMed/16505097" } ] }, { "title": "Interdomain conformational changes in Akt activation revealed by chemical cross-linking and tandem mass spectrometry.", "journal": "Molecular & cellular proteomics : MCP", "date": "2006", "authors": "Huang BX, Kim HY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16531397", "url": "https://glygen.org/publication/PubMed/16531397" } ] }, { "title": "Protein kinase B/Akt is present in activated form throughout the entire replicative cycle of deltaU(S)3 mutant virus but only at early times after infection with wild-type herpes simplex virus 1.", "journal": "Journal of virology", "date": "2006", "authors": "Benetti L, Roizman B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16537601", "url": "https://glygen.org/publication/PubMed/16537601" } ] }, { "title": "Activation and cross-talk between Akt, NF-kappaB, and unfolded protein response signaling in 1-LN prostate cancer cells consequent to ligation of cell surface-associated GRP78.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Misra UK, Deedwania R, Pizzo SV", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16543232", "url": "https://glygen.org/publication/PubMed/16543232" } ] }, { "title": "Endothelial Akt activation by hyperoxia: role in cell survival.", "journal": "Free radical biology & medicine", "date": "2006", "authors": "Ahmad A, Ahmad S, Chang LY, Schaack J, White CW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16545678", "url": "https://glygen.org/publication/PubMed/16545678" } ] }, { "title": "Inhibition of Akt survival pathway by a small-molecule inhibitor in human glioblastoma.", "journal": "Molecular cancer therapeutics", "date": "2006", "authors": "Koul D, Shen R, Bergh S, Sheng X, Shishodia S, Lafortune TA, Lu Y, de Groot JF, Mills GB, Yung WK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16546978", "url": "https://glygen.org/publication/PubMed/16546978" } ] }, { "title": "Combined inhibition of the phosphatidylinositol 3-kinase/Akt and Ras/mitogen-activated protein kinase pathways results in synergistic effects in glioblastoma cells.", "journal": "Molecular cancer therapeutics", "date": "2006-03", "authors": "Edwards Lincoln A, Verreault Maite, Thiessen Brian, Dragowska Wieslawa H, Hu Yanping, Yeung Juliana H F, Dedhar Shoukat, Bally Marcel B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16546979", "url": "https://glygen.org/publication/PubMed/16546979" } ] }, { "title": "17 beta-estradiol activates PI3K/Akt signaling pathway by estrogen receptor (ER)-dependent and ER-independent mechanisms in endometrial cancer cells.", "journal": "The Journal of steroid biochemistry and molecular biology", "date": "2006", "authors": "Guo RX, Wei LH, Tu Z, Sun PM, Wang JL, Zhao D, Li XP, Tang JM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16567092", "url": "https://glygen.org/publication/PubMed/16567092" } ] }, { "title": "Simultaneous inhibition of PDK1/AKT and Fms-like tyrosine kinase 3 signaling by a small-molecule KP372-1 induces mitochondrial dysfunction and apoptosis in acute myelogenous leukemia.", "journal": "Cancer research", "date": "2006", "authors": "Zeng Z, Samudio IJ, Zhang W, Estrov Z, Pelicano H, Harris D, Frolova O, Hail N Jr, Chen W, Kornblau SM, Huang P, Lu Y, Mills GB, Andreeff M, Konopleva M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16585200", "url": "https://glygen.org/publication/PubMed/16585200" } ] }, { "title": "The antiproliferative effect of Quercetin in cancer cells is mediated via inhibition of the PI3K-Akt/PKB pathway.", "journal": "Anticancer research", "date": "2006", "authors": "Gulati N, Laudet B, Zohrabian VM, Murali R, Jhanwar-Uniyal M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16619521", "url": "https://glygen.org/publication/PubMed/16619521" } ] }, { "title": "Human mesenchymal stem cells exert potent antitumorigenic effects in a model of Kaposi's sarcoma.", "journal": "The Journal of experimental medicine", "date": "2006", "authors": "Khakoo AY, Pati S, Anderson SA, Reid W, Elshal MF, Rovira II, Nguyen AT, Malide D, Combs CA, Hall G, Zhang J, Raffeld M, Rogers TB, Stetler-Stevenson W, Frank JA, Reitz M, Finkel T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16636132", "url": "https://glygen.org/publication/PubMed/16636132" } ] }, { "title": "Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Cai SL, Tee AR, Short JD, Bergeron JM, Kim J, Shen J, Guo R, Johnson CL, Kiguchi K, Walker CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16636147", "url": "https://glygen.org/publication/PubMed/16636147" } ] }, { "title": "Role of caspase 8 as a determinant in chemosensitivity of p53-mutated head and neck squamous cell carcinoma cell lines.", "journal": "Journal of medical and dental sciences", "date": "2006", "authors": "Kaneda Y, Shimamoto H, Matsumura K, Arvind R, Zhang S, Sakai E, Omura K, Tsuchida N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16722146", "url": "https://glygen.org/publication/PubMed/16722146" } ] }, { "title": "Exercise-induced phosphorylation of the novel Akt substrates AS160 and filamin A in human skeletal muscle.", "journal": "Diabetes", "date": "2006", "authors": "Deshmukh A, Coffey VG, Zhong Z, Chibalin AV, Hawley JA, Zierath JR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16731842", "url": "https://glygen.org/publication/PubMed/16731842" } ] }, { "title": "PI3-K/Akt-mediated anoikis resistance of human osteosarcoma cells requires Src activation.", "journal": "European journal of cancer (Oxford, England : 1990)", "date": "2006", "authors": "Diaz-Montero CM, Wygant JN, McIntyre BW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16759849", "url": "https://glygen.org/publication/PubMed/16759849" } ] }, { "title": "Analysis of human skeletal muscle after 48 h immobilization reveals alterations in mRNA and protein for extracellular matrix components.", "journal": "Journal of applied physiology (Bethesda, Md. : 1985)", "date": "2006-10", "authors": "Urso Maria L, Scrimgeour Angus G, Chen Yi-Wen, Thompson Paul D, Clarkson Priscilla M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16763108", "url": "https://glygen.org/publication/PubMed/16763108" } ] }, { "title": "Protein kinase Cepsilon activates protein kinase B/Akt via DNA-PK to protect against tumor necrosis factor-alpha-induced cell death.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Lu D, Huang J, Basu A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16785234", "url": "https://glygen.org/publication/PubMed/16785234" } ] }, { "title": "Significance of Akt phosphorylation on tumor growth and vascular endothelial growth factor expression in human gastric carcinoma.", "journal": "Pathobiology : journal of immunopathology, molecular and cellular biology", "date": "2006", "authors": "Kobayashi I, Semba S, Matsuda Y, Kuroda Y, Yokozaki H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16785763", "url": "https://glygen.org/publication/PubMed/16785763" } ] }, { "title": "Activation of Akt and mTOR in CD34+/K15+ keratinocyte stem cells and skin tumors during multi-stage mouse skin carcinogenesis.", "journal": "Anticancer research", "date": "2006", "authors": "Affara NI, Trempus CS, Schanbacher BL, Pei P, Mallery SR, Bauer JA, Robertson FM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16886599", "url": "https://glygen.org/publication/PubMed/16886599" } ] }, { "title": "Oxidant stress and skeletal muscle glucose transport: roles of insulin signaling and p38 MAPK.", "journal": "Free radical biology & medicine", "date": "2006-09-01", "authors": "Kim John S, Saengsirisuwan Vitoon, Sloniger Julie A, Teachey Mary K, Henriksen Erik J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16895802", "url": "https://glygen.org/publication/PubMed/16895802" } ] }, { "title": "Regulation of Akt/PKB by phosphatidylinositol 3-kinase-dependent and -independent pathways in B-cell chronic lymphocytic leukemia cells: role of protein kinase C{beta}.", "journal": "Journal of leukocyte biology", "date": "2006", "authors": "Barragan M, de Frias M, Iglesias-Serret D, Campas C, Castano E, Santidrian AF, Coll-Mulet L, Cosialls AM, Domingo A, Pons G, Gil J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16940331", "url": "https://glygen.org/publication/PubMed/16940331" } ] }, { "title": "Differential activation of the PI 3-kinase effectors AKT/PKB and p70 S6 kinase by compound 48/80 is mediated by PKCalpha.", "journal": "Cellular signalling", "date": "2007", "authors": "Byrne RD, Rosivatz E, Parsons M, Larijani B, Parker PJ, Ng T, Woscholski R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16942862", "url": "https://glygen.org/publication/PubMed/16942862" } ] }, { "title": "Developmental acquisition of T3-sensitive Na-K-ATPase stimulation by rat alveolar epithelial cells.", "journal": "American journal of physiology. Lung cellular and molecular physiology", "date": "2007-01", "authors": "Lei Jianxun, Wendt Christine H, Fan Daosheng, Mariash Cary N, Ingbar David H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16951134", "url": "https://glygen.org/publication/PubMed/16951134" } ] }, { "title": "Oxysterol-binding protein-related protein (ORP) 9 is a PDK-2 substrate and regulates Akt phosphorylation.", "journal": "Cellular signalling", "date": "2007", "authors": "Lessmann E, Ngo M, Leitges M, Minguet S, Ridgway ND, Huber M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16962287", "url": "https://glygen.org/publication/PubMed/16962287" } ] }, { "title": "SIN1/MIP1 maintains rictor-mTOR complex integrity and regulates Akt phosphorylation and substrate specificity.", "journal": "Cell", "date": "2006", "authors": "Jacinto E, Facchinetti V, Liu D, Soto N, Wei S, Jung SY, Huang Q, Qin J, Su B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16962653", "url": "https://glygen.org/publication/PubMed/16962653" } ] }, { "title": "Molecular pathways leading to oxidative stress-induced phosphorylation of Akt.", "journal": "Antioxidants & redox signaling", "date": "2006", "authors": "Lahair MM, Howe CJ, Rodriguez-Mora O, McCubrey JA, Franklin RA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16987028", "url": "https://glygen.org/publication/PubMed/16987028" } ] }, { "title": "The protein phosphatase-1/inhibitor-2 complex differentially regulates GSK3 dephosphorylation and increases sarcoplasmic/endoplasmic reticulum calcium ATPase 2 levels.", "journal": "Experimental cell research", "date": "2006-11-01", "authors": "King Taj D, Gandy Johanna C, Bijur Gautam N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16987514", "url": "https://glygen.org/publication/PubMed/16987514" } ] }, { "title": "Oxidant-mediated Akt activation in human RPE cells.", "journal": "Investigative ophthalmology & visual science", "date": "2006", "authors": "Yang P, Peairs JJ, Tano R, Jaffe GJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17003457", "url": "https://glygen.org/publication/PubMed/17003457" } ] }, { "title": "Longitudinal inhibition of PI3K/Akt/mTOR signaling by LY294002 and rapamycin induces growth arrest of adult T-cell leukemia cells.", "journal": "Leukemia research", "date": "2007", "authors": "Ikezoe T, Nishioka C, Bandobashi K, Yang Y, Kuwayama Y, Adachi Y, Takeuchi T, Koeffler HP, Taguchi H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17007924", "url": "https://glygen.org/publication/PubMed/17007924" } ] }, { "title": "Activation of Akt independent of PTEN and CTMP tumor-suppressor gene mutations in epilepsy-associated Taylor-type focal cortical dysplasias.", "journal": "Acta neuropathologica", "date": "2006", "authors": "Schick V, Majores M, Engels G, Spitoni S, Koch A, Elger CE, Simon M, Knobbe C, Blumcke I, Becker AJ", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17013611", "url": "https://glygen.org/publication/PubMed/17013611" } ] }, { "title": "Vanillin derivative 6-bromine-5-hydroxy-4-methoxybenzaldehyde-elicited apoptosis and G2/M arrest of Jurkat cells proceeds concurrently with DNA-PKcs cleavage and Akt inactivation.", "journal": "International journal of oncology", "date": "2006", "authors": "Yan YQ, Xu QZ, Wang L, Sui JL, Bai B, Zhou PK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17016648", "url": "https://glygen.org/publication/PubMed/17016648" } ] }, { "title": "Contrasting insulin dose-dependent defects in activation of atypical protein kinase C and protein kinase B/Akt in muscles of obese diabetic humans.", "journal": "Diabetologia", "date": "2006", "authors": "Casaubon L, Sajan MP, Rivas J, Powe JL, Standaert ML, Farese RV", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17028898", "url": "https://glygen.org/publication/PubMed/17028898" } ] }, { "title": "Cotreatment with a novel phosphoinositide analogue inhibitor and carmustine enhances chemotherapeutic efficacy by attenuating AKT activity in gliomas.", "journal": "Cancer", "date": "2006", "authors": "Van Meter TE, Broaddus WC, Cash D, Fillmore H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17041888", "url": "https://glygen.org/publication/PubMed/17041888" } ] }, { "title": "Altered activation of AKT is required for the suppressive function of human CD4+CD25+ T regulatory cells.", "journal": "Blood", "date": "2007", "authors": "Crellin NK, Garcia RV, Levings MK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17062729", "url": "https://glygen.org/publication/PubMed/17062729" } ] }, { "title": "AS160 phosphorylation is associated with activation of alpha2beta2gamma1- but not alpha2beta2gamma3-AMPK trimeric complex in skeletal muscle during exercise in humans.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2007-03", "authors": "Treebak Jonas T, Birk Jesper B, Rose Adam J, Kiens Bente, Richter Erik A, Wojtaszewski J\u00f8rgen F P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17077344", "url": "https://glygen.org/publication/PubMed/17077344" } ] }, { "title": "Inflammation and IGF-I activate the Akt pathway in breast cancer.", "journal": "International journal of cancer", "date": "2007", "authors": "Prueitt RL, Boersma BJ, Howe TM, Goodman JE, Thomas DD, Ying L, Pfiester CM, Yfantis HG, Cottrell JR, Lee DH, Remaley AT, Hofseth LJ, Wink DA, Ambs S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17096325", "url": "https://glygen.org/publication/PubMed/17096325" } ] }, { "title": "Ghrelin has novel vascular actions that mimic PI 3-kinase-dependent actions of insulin to stimulate production of NO from endothelial cells.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2007", "authors": "Iantorno M, Chen H, Kim JA, Tesauro M, Lauro D, Cardillo C, Quon MJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17106060", "url": "https://glygen.org/publication/PubMed/17106060" } ] }, { "title": "Valproic acid and butyrate induce apoptosis in human cancer cells through inhibition of gene expression of Akt/protein kinase B.", "journal": "Molecular cancer", "date": "2006", "authors": "Chen J, Ghazawi FM, Bakkar W, Li Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17156483", "url": "https://glygen.org/publication/PubMed/17156483" } ] }, { "title": "Mitochondrial respiration defects in cancer cells cause activation of Akt survival pathway through a redox-mediated mechanism.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Pelicano H, Xu RH, Du M, Feng L, Sasaki R, Carew JS, Hu Y, Ramdas L, Hu L, Keating MJ, Zhang W, Plunkett W, Huang P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17158952", "url": "https://glygen.org/publication/PubMed/17158952" } ] }, { "title": "HMGA1 is a determinant of cellular invasiveness and in vivo metastatic potential in pancreatic adenocarcinoma.", "journal": "Cancer research", "date": "2006", "authors": "Liau SS, Jazag A, Whang EE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17178855", "url": "https://glygen.org/publication/PubMed/17178855" } ] }, { "title": "Activation of p38MAPK by repetitive low-grade oxidative stress leads to pro-survival effects.", "journal": "Biochimica et biophysica acta", "date": "2007-03", "authors": "Sen Prosenjit, Chakraborty Prabir Kumar, Raha Sanghamitra", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17196679", "url": "https://glygen.org/publication/PubMed/17196679" } ] }, { "title": "Signaling pathway of nitric oxide production induced by ginsenoside Rb1 in human aortic endothelial cells: a possible involvement of androgen receptor.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Yu J, Eto M, Akishita M, Kaneko A, Ouchi Y, Okabe T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17196933", "url": "https://glygen.org/publication/PubMed/17196933" } ] }, { "title": "Activation of Akt predicts poor outcome in neuroblastoma.", "journal": "Cancer research", "date": "2007", "authors": "Opel D, Poremba C, Simon T, Debatin KM, Fulda S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17234785", "url": "https://glygen.org/publication/PubMed/17234785" } ] }, { "title": "Antiproliferative activity of sulforaphane in Akt-overexpressing ovarian cancer cells.", "journal": "Molecular cancer therapeutics", "date": "2007", "authors": "Chaudhuri D, Orsulic S, Ashok BT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17237292", "url": "https://glygen.org/publication/PubMed/17237292" } ] }, { "title": "Ceramide- and oxidant-induced insulin resistance involve loss of insulin-dependent Rac-activation and actin remodeling in muscle cells.", "journal": "Diabetes", "date": "2007", "authors": "JeBailey L, Wanono O, Niu W, Roessler J, Rudich A, Klip A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17259384", "url": "https://glygen.org/publication/PubMed/17259384" } ] }, { "title": "Attenuation of PTEN increases p21 stability and cytosolic localization in kidney cancer cells: a potential mechanism of apoptosis resistance.", "journal": "Molecular cancer", "date": "2007", "authors": "Lin PY, Fosmire SP, Park SH, Park JY, Baksh S, Modiano JF, Weiss RH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17300726", "url": "https://glygen.org/publication/PubMed/17300726" } ] }, { "title": "Phosphoinositide-3-kinase/akt survival signal pathways are implicated in neuronal survival after stroke.", "journal": "Molecular neurobiology", "date": "2006", "authors": "Zhao H, Sapolsky RM, Steinberg GK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17308356", "url": "https://glygen.org/publication/PubMed/17308356" } ] }, { "title": "Baculovirus-mediated gene transfer and recombinant protein expression do not interfere with insulin dependent phosphorylation of PKB/Akt in human SHSY-5Y and C3A cells.", "journal": "BMC cell biology", "date": "2007", "authors": "Andersson M, Warolen M, Nilsson J, Selander M, Sterky C, Bergdahl K, Sorving C, James SR, Doverskog M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17309805", "url": "https://glygen.org/publication/PubMed/17309805" } ] }, { "title": "Akt inhibitor A-443654 induces rapid Akt Ser-473 phosphorylation independent of mTORC1 inhibition.", "journal": "Oncogene", "date": "2007", "authors": "Han EK, Leverson JD, McGonigal T, Shah OJ, Woods KW, Hunter T, Giranda VL, Luo Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17334390", "url": "https://glygen.org/publication/PubMed/17334390" } ] }, { "title": "Dissociation between the translocation and the activation of Akt in fMLP-stimulated human neutrophils--effect of prostaglandin E2.", "journal": "Journal of leukocyte biology", "date": "2007", "authors": "Burelout C, Naccache PH, Bourgoin SG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17339610", "url": "https://glygen.org/publication/PubMed/17339610" } ] }, { "title": "Overexpression of HMGA1 promotes anoikis resistance and constitutive Akt activation in pancreatic adenocarcinoma cells.", "journal": "British journal of cancer", "date": "2007", "authors": "Liau SS, Jazag A, Ito K, Whang EE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17342093", "url": "https://glygen.org/publication/PubMed/17342093" } ] }, { "title": "Anti-Cripto Mab inhibit tumour growth and overcome MDR in a human leukaemia MDR cell line by inhibition of Akt and activation of JNK/SAPK and bad death pathways.", "journal": "British journal of cancer", "date": "2007", "authors": "Hu XF, Li J, Yang E, Vandervalk S, Xing PX", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17342096", "url": "https://glygen.org/publication/PubMed/17342096" } ] }, { "title": "Ligand bound beta1 integrins inhibit procaspase-8 for mediating cell adhesion-mediated drug and radiation resistance in human leukemia cells.", "journal": "PloS one", "date": "2007", "authors": "Estrugo D, Fischer A, Hess F, Scherthan H, Belka C, Cordes N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17342203", "url": "https://glygen.org/publication/PubMed/17342203" } ] }, { "title": "Phosphorylation of Akt (Ser473) predicts poor clinical outcome in oropharyngeal squamous cell cancer.", "journal": "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "date": "2007", "authors": "Yu Z, Weinberger PM, Sasaki C, Egleston BL, Speier WF 4th, Haffty B, Kowalski D, Camp R, Rimm D, Vairaktaris E, Burtness B, Psyrri A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17372251", "url": "https://glygen.org/publication/PubMed/17372251" } ] }, { "title": "Real-time imaging nuclear translocation of Akt1 in HCC cells.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Zhu L, Hu C, Li J, Xue P, He X, Ge C, Qin W, Yao G, Gu J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17400190", "url": "https://glygen.org/publication/PubMed/17400190" } ] }, { "title": "Intramolecular and intermolecular interactions of protein kinase B define its activation in vivo.", "journal": "PLoS biology", "date": "2007", "authors": "Calleja V, Alcor D, Laguerre M, Park J, Vojnovic B, Hemmings BA, Downward J, Parker PJ, Larijani B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17407381", "url": "https://glygen.org/publication/PubMed/17407381" } ] }, { "title": "Prognostic value of integrin beta1-ILK-pAkt signaling pathway in non-small cell lung cancer.", "journal": "Human pathology", "date": "2007-07", "authors": "Okamura Mayumi, Yamaji Satoshi, Nagashima Yoji, Nishikawa Masanori, Yoshimoto Noboru, Kido Yasuhiro, Iemoto Yoichi, Aoki Ichiro, Ishigatsubo Yoshiaki", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17442374", "url": "https://glygen.org/publication/PubMed/17442374" } ] }, { "title": "Parathyroid hormone-related protein induces cell survival in human renal cell carcinoma through the PI3K Akt pathway: evidence for a critical role for integrin-linked kinase and nuclear factor kappa B.", "journal": "Carcinogenesis", "date": "2007", "authors": "Agouni A, Sourbier C, Danilin S, Rothhut S, Lindner V, Jacqmin D, Helwig JJ, Lang H, Massfelder T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17468516", "url": "https://glygen.org/publication/PubMed/17468516" } ] }, { "title": "Metastatic potential of 21T human breast cancer cells depends on Akt/protein kinase B activation.", "journal": "Cancer research", "date": "2007", "authors": "Qiao M, Iglehart JD, Pardee AB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17545609", "url": "https://glygen.org/publication/PubMed/17545609" } ] }, { "title": "The loss of telomerase activity in highly differentiated CD8+CD28-CD27- T cells is associated with decreased Akt (Ser473) phosphorylation.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2007", "authors": "Plunkett FJ, Franzese O, Finney HM, Fletcher JM, Belaramani LL, Salmon M, Dokal I, Webster D, Lawson AD, Akbar AN", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17548608", "url": "https://glygen.org/publication/PubMed/17548608" } ] }, { "title": "Activated Akt signaling pathway in invasive ductal carcinoma of the breast: correlation with HER2 overexpression.", "journal": "Oncology reports", "date": "2007", "authors": "Park SS, Kim SW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17549359", "url": "https://glygen.org/publication/PubMed/17549359" } ] }, { "title": "Molecular mechanism of bis(maltolato)oxovanadium(IV)-induced insulin signaling in 3T3-L1 and IM9 cells: impact of dexamethasone.", "journal": "Journal of molecular endocrinology", "date": "2007", "authors": "Bose S, Farah MA, Jung HC, Lee JH, Kim Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17556533", "url": "https://glygen.org/publication/PubMed/17556533" } ] }, { "title": "Inhibition of mammalian target of rapamycin signaling by 2-(morpholin-1-yl)pyrimido[2,1-alpha]isoquinolin-4-one.", "journal": "The Journal of biological chemistry", "date": "2007-08-17", "authors": "Ballou Lisa M, Selinger Elzbieta S, Choi Jun Yong, Drueckhammer Dale G, Lin Richard Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17562705", "url": "https://glygen.org/publication/PubMed/17562705" } ] }, { "title": "[Molecular mechanisms of DHEA and DHEAs on apoptosis and cell cycle arrest via Akt pathway in hepatoma cell lines].", "journal": "Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology", "date": "2007", "authors": "Jiang YF, Zhao PW, Tan Y, Liu LH, Li MH, Matsuzaki Y, Niu JQ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17594810", "url": "https://glygen.org/publication/PubMed/17594810" } ] }, { "title": "Carboxy-terminal modulator protein induces Akt phosphorylation and activation, thereby enhancing antiapoptotic, glycogen synthetic, and glucose uptake pathways.", "journal": "American journal of physiology. Cell physiology", "date": "2007", "authors": "Ono H, Sakoda H, Fujishiro M, Anai M, Kushiyama A, Fukushima Y, Katagiri H, Ogihara T, Oka Y, Kamata H, Horike N, Uchijima Y, Kurihara H, Asano T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17615157", "url": "https://glygen.org/publication/PubMed/17615157" } ] }, { "title": "Increased phosphorylation of p70 S6 kinase is associated with HPV16 infection in cervical cancer and esophageal cancer.", "journal": "British journal of cancer", "date": "2007", "authors": "Zhou Y, Pan Y, Zhang S, Shi X, Ning T, Ke Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17622239", "url": "https://glygen.org/publication/PubMed/17622239" } ] }, { "title": "Cytotoxic effect of 5-aminoimidazole-4-carboxamide-1-beta-4-ribofuranoside (AICAR) on childhood acute lymphoblastic leukemia (ALL) cells: implication for targeted therapy.", "journal": "Molecular cancer", "date": "2007", "authors": "Sengupta TK, Leclerc GM, Hsieh-Kinser TT, Leclerc GJ, Singh I, Barredo JC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17623090", "url": "https://glygen.org/publication/PubMed/17623090" } ] }, { "title": "Phosphorylation of human insulin receptor substrate-1 at Serine 629 plays a positive role in insulin signaling.", "journal": "Endocrinology", "date": "2007", "authors": "Luo M, Langlais P, Yi Z, Lefort N, De Filippis EA, Hwang H, Christ-Roberts CY, Mandarino LJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17640984", "url": "https://glygen.org/publication/PubMed/17640984" } ] }, { "title": "Cell size and invasion in TGF-beta-induced epithelial to mesenchymal transition is regulated by activation of the mTOR pathway.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Lamouille S, Derynck R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17646396", "url": "https://glygen.org/publication/PubMed/17646396" } ] }, { "title": "Combretastatin A4-induced differential cytotoxicity and reduced metastatic ability by inhibition of AKT function in human gastric cancer cells.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2007", "authors": "Lin HL, Chiou SH, Wu CW, Lin WB, Chen LH, Yang YP, Tsai ML, Uen YH, Liou JP, Chi CW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17646428", "url": "https://glygen.org/publication/PubMed/17646428" } ] }, { "title": "Ca2+-permeable AMPA receptors regulate growth of human glioblastoma via Akt activation.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2007", "authors": "Ishiuchi S, Yoshida Y, Sugawara K, Aihara M, Ohtani T, Watanabe T, Saito N, Tsuzuki K, Okado H, Miwa A, Nakazato Y, Ozawa S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17652589", "url": "https://glygen.org/publication/PubMed/17652589" } ] }, { "title": "EF24 induces G2/M arrest and apoptosis in cisplatin-resistant human ovarian cancer cells by increasing PTEN expression.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Selvendiran K, Tong L, Vishwanath S, Bratasz A, Trigg NJ, Kutala VK, Hideg K, Kuppusamy P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17684018", "url": "https://glygen.org/publication/PubMed/17684018" } ] }, { "title": "Effects of fasting on insulin action and glucose kinetics in lean and obese men and women.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2007", "authors": "Bergman BC, Cornier MA, Horton TJ, Bessesen DH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17684102", "url": "https://glygen.org/publication/PubMed/17684102" } ] }, { "title": "Rapamycin regulates the phosphorylation of rictor.", "journal": "Biochemical and biophysical research communications", "date": "2007-10-19", "authors": "Akcakanat Argun, Singh Gopal, Hung Mien-Chie, Meric-Bernstam Funda", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17707343", "url": "https://glygen.org/publication/PubMed/17707343" } ] }, { "title": "Amyloid beta oligomers induce impairment of neuronal insulin receptors.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2008-01", "authors": "Zhao Wei-Qin, De Felice Fernanda G, Fernandez Sara, Chen Hui, Lambert Mary P, Quon Michael J, Krafft Grant A, Klein William L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17720802", "url": "https://glygen.org/publication/PubMed/17720802" } ] }, { "title": "Overexpression of Akt1 upregulates glycogen synthase activity and phosphorylation of mTOR in IRS-1 knockdown HepG2 cells.", "journal": "Journal of cellular biochemistry", "date": "2008", "authors": "Varma S, Khandelwal RL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17721885", "url": "https://glygen.org/publication/PubMed/17721885" } ] }, { "title": "The association of up-regulation of X-linked inhibitor of apoptosis protein with cell adhesion-mediated drug resistance in U937 cells.", "journal": "Hematological oncology", "date": "2008", "authors": "Wang X, Wang C, Qin YW, Yan SK, Gao YR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17721914", "url": "https://glygen.org/publication/PubMed/17721914" } ] }, { "title": "Proapoptotic compound ARC targets Akt and N-myc in neuroblastoma cells.", "journal": "Oncogene", "date": "2008", "authors": "Radhakrishnan SK, Halasi M, Bhat UG, Kurmasheva RT, Houghton PJ, Gartel AL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17724478", "url": "https://glygen.org/publication/PubMed/17724478" } ] }, { "title": "Could changes in the regulation of the PI3K/PKB/Akt signaling pathway and cell cycle be involved in astrocytic tumor pathogenesis and progression?", "journal": "Neoplasma", "date": "2007", "authors": "Hlobilkova A, Ehrmann J, Sedlakova E, Krejci V, Knizetova P, Fiuraskova M, Kala M, Kalita O, Kolar Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17822324", "url": "https://glygen.org/publication/PubMed/17822324" } ] }, { "title": "Effect of supplemental dietary zinc on the mammalian target of rapamycin (mTOR) signaling pathway in skeletal muscle and liver from post-absorptive mice.", "journal": "Biological trace element research", "date": "2007-07", "authors": "McClung James P, Tarr Tyson N, Barnes Brian R, Scrimgeour Angus G, Young Andrew J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17848732", "url": "https://glygen.org/publication/PubMed/17848732" } ] }, { "title": "PDK-1/AKT pathway as a novel therapeutic target in rhabdomyosarcoma cells using OSU-03012 compound.", "journal": "British journal of cancer", "date": "2007", "authors": "Cen L, Hsieh FC, Lin HJ, Chen CS, Qualman SJ, Lin J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17848913", "url": "https://glygen.org/publication/PubMed/17848913" } ] }, { "title": "Reactive nitrogen species induced by hyperglycemia suppresses Akt signaling and triggers apoptosis by upregulating phosphatase PTEN (phosphatase and tensin homologue deleted on chromosome 10) in an LKB1-dependent manner.", "journal": "Circulation", "date": "2007", "authors": "Song P, Wu Y, Xu J, Xie Z, Dong Y, Zhang M, Zou MH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17875968", "url": "https://glygen.org/publication/PubMed/17875968" } ] }, { "title": "Protease-activated receptor-induced Akt activation--regulation and possible function.", "journal": "Journal of thrombosis and haemostasis : JTH", "date": "2007", "authors": "Resendiz JC, Kroll MH, Lassila R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17883592", "url": "https://glygen.org/publication/PubMed/17883592" } ] }, { "title": "EGFR and beta1 integrins utilize different signaling pathways to activate Akt.", "journal": "Experimental cell research", "date": "2008", "authors": "Velling T, Stefansson A, Johansson S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17910952", "url": "https://glygen.org/publication/PubMed/17910952" } ] }, { "title": "Cigarette smoke-induced alterations in endothelial nitric oxide synthase phosphorylation: role of protein kinase C.", "journal": "Endothelium : journal of endothelial cell research", "date": "2007", "authors": "Wagner L, Laczy B, Tamask\u00f3 M, Maz\u00e1k I, Mark\u00f3 L, Moln\u00e1r G A, Wagner Z, Moh\u00e1s M, Cseh J, Fekete A, Wittmann I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17922342", "url": "https://glygen.org/publication/PubMed/17922342" } ] }, { "title": "Proanthocyanidin from grape seeds inactivates the PI3-kinase/PKB pathway and induces apoptosis in a colon cancer cell line.", "journal": "Cancer letters", "date": "2007", "authors": "Engelbrecht AM, Mattheyse M, Ellis B, Loos B, Thomas M, Smith R, Peters S, Smith C, Myburgh K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17923279", "url": "https://glygen.org/publication/PubMed/17923279" } ] }, { "title": "Phosphoinositide 3-kinase/Akt pathway plays an important role in chemoresistance of gastric cancer cells against etoposide and doxorubicin induced cell death.", "journal": "International journal of cancer", "date": "2008", "authors": "Yu HG, Ai YW, Yu LL, Zhou XD, Liu J, Li JH, Xu XM, Liu S, Chen J, Liu F, Qi YL, Deng Q, Cao J, Liu SQ, Luo HS, Yu JP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17935137", "url": "https://glygen.org/publication/PubMed/17935137" } ] }, { "title": "Activation or inactivation of cardiac Akt/mTOR signaling diverges physiological from pathological hypertrophy.", "journal": "Journal of cellular physiology", "date": "2008", "authors": "Kemi OJ, Ceci M, Wisloff U, Grimaldi S, Gallo P, Smith GL, Condorelli G, Ellingsen O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17941081", "url": "https://glygen.org/publication/PubMed/17941081" } ] }, { "title": "Activation of AMP-activated protein kinase, inhibition of pyruvate dehydrogenase activity, and redistribution of substrate partitioning mediate the acute insulin-sensitizing effects of troglitazone in skeletal muscle cells.", "journal": "Journal of cellular physiology", "date": "2008", "authors": "Fediuc S, Pimenta AS, Gaidhu MP, Ceddia RB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17960559", "url": "https://glygen.org/publication/PubMed/17960559" } ] }, { "title": "Involvement of phosphoinositide 3-kinase and Akt in the induction of muscle protein degradation by proteolysis-inducing factor.", "journal": "The Biochemical journal", "date": "2008", "authors": "Russell ST, Eley HL, Wyke SM, Tisdale MJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17961125", "url": "https://glygen.org/publication/PubMed/17961125" } ] }, { "title": "Muscle-specific deletion of rictor impairs insulin-stimulated glucose transport and enhances Basal glycogen synthase activity.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Kumar A, Harris TE, Keller SR, Choi KM, Magnuson MA, Lawrence JC Jr", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17967879", "url": "https://glygen.org/publication/PubMed/17967879" } ] }, { "title": "Physiological changes in GRK2 regulate CCL2-induced signaling to ERK1/2 and Akt but not to MEK1/2 and calcium.", "journal": "Journal of neurochemistry", "date": "2008", "authors": "Kleibeuker W, Jurado-Pueyo M, Murga C, Eijkelkamp N, Mayor F Jr, Heijnen CJ, Kavelaars A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17971124", "url": "https://glygen.org/publication/PubMed/17971124" } ] }, { "title": "Aurora-A, a negative prognostic marker, increases migration and decreases radiosensitivity in cancer cells.", "journal": "Cancer research", "date": "2007", "authors": "Guan Z, Wang XR, Zhu XF, Huang XF, Xu J, Wang LH, Wan XB, Long ZJ, Liu JN, Feng GK, Huang W, Zeng YX, Chen FJ, Liu Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17974987", "url": "https://glygen.org/publication/PubMed/17974987" } ] }, { "title": "Impaired insulin-stimulated phosphorylation of Akt and AS160 in skeletal muscle of women with polycystic ovary syndrome is reversed by pioglitazone treatment.", "journal": "Diabetes", "date": "2008", "authors": "Hojlund K, Glintborg D, Andersen NR, Birk JB, Treebak JT, Frosig C, Beck-Nielsen H, Wojtaszewski JF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17977950", "url": "https://glygen.org/publication/PubMed/17977950" } ] }, { "title": "Regulation of Akt during hibernation in Richardson's ground squirrels.", "journal": "Biochimica et biophysica acta", "date": "2008", "authors": "Abnous K, Dieni CA, Storey KB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "17983605", "url": "https://glygen.org/publication/PubMed/17983605" } ] }, { "title": "Mutation of Y179 on phospholipase D2 (PLD2) upregulates DNA synthesis in a PI3K-and Akt-dependent manner.", "journal": "Cellular signalling", "date": "2008", "authors": "Di Fulvio M, Frondorf K, Gomez-Cambronero J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18006275", "url": "https://glygen.org/publication/PubMed/18006275" } ] }, { "title": "Protein phosphatase 2A regulates life and death decisions via Akt in a context-dependent manner.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Andrabi S, Gjoerup OV, Kean JA, Roberts TM, Schaffhausen B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18006659", "url": "https://glygen.org/publication/PubMed/18006659" } ] }, { "title": "alpha-Amino-3-hydroxy-5-methyl-4-isoxazole propionate attenuates glutamate-induced caspase-3 cleavage via regulation of glycogen synthase kinase 3beta.", "journal": "Journal of neuroscience research", "date": "2008", "authors": "Nishimoto T, Kihara T, Akaike A, Niidome T, Sugimoto H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18041091", "url": "https://glygen.org/publication/PubMed/18041091" } ] }, { "title": "Green tea polyphenol and epigallocatechin gallate induce apoptosis and inhibit invasion in human breast cancer cells.", "journal": "Cancer biology & therapy", "date": "2007", "authors": "Thangapazham RL, Passi N, Maheshwari RK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18059161", "url": "https://glygen.org/publication/PubMed/18059161" } ] }, { "title": "Raptor-rictor axis in TGFbeta-induced protein synthesis.", "journal": "Cellular signalling", "date": "2008", "authors": "Das F, Ghosh-Choudhury N, Mahimainathan L, Venkatesan B, Feliers D, Riley DJ, Kasinath BS, Choudhury GG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18068336", "url": "https://glygen.org/publication/PubMed/18068336" } ] }, { "title": "Colorectal hyperplasia and dysplasia due to human carcinoembryonic antigen (CEA) family member expression in transgenic mice.", "journal": "PloS one", "date": "2007", "authors": "Chan CH, Camacho-Leal P, Stanners CP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18159236", "url": "https://glygen.org/publication/PubMed/18159236" } ] }, { "title": "PI-3K/Akt pathway-dependent cyclin D1 expression is responsible for arsenite-induced human keratinocyte transformation.", "journal": "Environmental health perspectives", "date": "2008", "authors": "Ouyang W, Luo W, Zhang D, Jian J, Ma Q, Li J, Shi X, Chen J, Gao J, Huang C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18197291", "url": "https://glygen.org/publication/PubMed/18197291" } ] }, { "title": "Phosphatidylinositol 3-kinase/AKT pathway activation in human vestibular schwannoma.", "journal": "Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology", "date": "2008", "authors": "Jacob A, Lee TX, Neff BA, Miller S, Welling B, Chang LS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18199958", "url": "https://glygen.org/publication/PubMed/18199958" } ] }, { "title": "Isoform-specific defects of insulin stimulation of Akt/protein kinase B (PKB) in skeletal muscle cells from type 2 diabetic patients.", "journal": "Diabetologia", "date": "2008", "authors": "Cozzone D, Frojdo S, Disse E, Debard C, Laville M, Pirola L, Vidal H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18204829", "url": "https://glygen.org/publication/PubMed/18204829" } ] }, { "title": "Antitumor activity of rapamycin in a Phase I trial for patients with recurrent PTEN-deficient glioblastoma.", "journal": "PLoS medicine", "date": "2008-01-22", "authors": "Cloughesy Tim F, Yoshimoto Koji, Nghiemphu Phioanh, Brown Kevin, Dang Julie, Zhu Shaojun, Hsueh Teli, Chen Yinan, Wang Wei, Youngkin David, Liau Linda, Martin Neil, Becker Don, Bergsneider Marvin, Lai Albert, Green Richard, Oglesby Tom, Koleto Michael, Trent Jeff, Horvath Steve, Mischel Paul S, Mellinghoff Ingo K, Sawyers Charles L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18215105", "url": "https://glygen.org/publication/PubMed/18215105" } ] }, { "title": "mTORC1 signaling requires proteasomal function and the involvement of CUL4-DDB1 ubiquitin E3 ligase.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2008-02-01", "authors": "Ghosh Papia, Wu Min, Zhang Hui, Sun Hong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18235224", "url": "https://glygen.org/publication/PubMed/18235224" } ] }, { "title": "Activating E17K mutation in the gene encoding the protein kinase AKT1 in a subset of squamous cell carcinoma of the lung.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2008", "authors": "Malanga D, Scrima M, De Marco C, Fabiani F, De Rosa N, De Gisi S, Malara N, Savino R, Rocco G, Chiappetta G, Franco R, Tirino V, Pirozzi G, Viglietto G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5674400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5674400" }, { "database": "Entrez", "id": "207", "url": "https://www.ncbi.nlm.nih.gov/gene/207" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18256540", "url": "https://glygen.org/publication/PubMed/18256540" } ] }, { "title": "Long-term effects of rapamycin treatment on insulin mediated phosphorylation of Akt/PKB and glycogen synthase activity.", "journal": "Experimental cell research", "date": "2008", "authors": "Varma S, Shrivastav A, Changela S, Khandelwal RL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18261725", "url": "https://glygen.org/publication/PubMed/18261725" } ] }, { "title": "Casein Kinase I epsilon positively regulates the Akt pathway in breast cancer cell lines.", "journal": "Biochemical and biophysical research communications", "date": "2008", "authors": "Modak C, Bryant P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18262492", "url": "https://glygen.org/publication/PubMed/18262492" } ] }, { "title": "Interaction between simian virus 40 large T antigen and insulin receptor substrate 1 is disrupted by the K1 mutation, resulting in the loss of large T antigen-mediated phosphorylation of Akt.", "journal": "Journal of virology", "date": "2008", "authors": "Yu Y, Alwine JC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18305032", "url": "https://glygen.org/publication/PubMed/18305032" } ] }, { "title": "Protein kinase Czeta-dependent LKB1 serine 428 phosphorylation increases LKB1 nucleus export and apoptosis in endothelial cells.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Song P, Xie Z, Wu Y, Xu J, Dong Y, Zou MH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18321849", "url": "https://glygen.org/publication/PubMed/18321849" } ] }, { "title": "Isosilybin B causes androgen receptor degradation in human prostate carcinoma cells via PI3K-Akt-Mdm2-mediated pathway.", "journal": "Oncogene", "date": "2008", "authors": "Deep G, Oberlies NH, Kroll DJ, Agarwal R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18332867", "url": "https://glygen.org/publication/PubMed/18332867" } ] }, { "title": "Rictor and integrin-linked kinase interact and regulate Akt phosphorylation and cancer cell survival.", "journal": "Cancer research", "date": "2008-03-15", "authors": "McDonald Paul C, Oloumi Arusha, Mills Julia, Dobreva Iveta, Maidan Mykola, Gray Virginia, Wederell Elizabeth D, Bally Marcel B, Foster Leonard J, Dedhar Shoukat", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18339839", "url": "https://glygen.org/publication/PubMed/18339839" } ] }, { "title": "Inhibition of ICAM2 induces radiosensitization in oral squamous cell carcinoma cells.", "journal": "British journal of cancer", "date": "2008-04-22", "authors": "Ishigami T, Uzawa K, Fushimi K, Saito K, Kato Y, Nakashima D, Higo M, Kouzu Y, Bukawa H, Kawata T, Ito H, Tanzawa H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18349842", "url": "https://glygen.org/publication/PubMed/18349842" } ] }, { "title": "Enhanced anti-proliferative effects of combinatorial treatment of delta-tocopherol and resveratrol in human HMC-1 cells.", "journal": "BioFactors (Oxford, England)", "date": "2007", "authors": "Reiter E, Azzi A, Zingg JM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18356579", "url": "https://glygen.org/publication/PubMed/18356579" } ] }, { "title": "Temporal PTEN inactivation causes proliferation of saphenous vein smooth muscle cells of human CABG conduits.", "journal": "Journal of cellular and molecular medicine", "date": "2009", "authors": "Mitra AK, Jia G, Gangahar DM, Agrawal DK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18363844", "url": "https://glygen.org/publication/PubMed/18363844" } ] }, { "title": "Verapamil toxicity dysregulates the phosphatidylinositol 3-kinase pathway.", "journal": "Academic emergency medicine : official journal of the Society for Academic Emergency Medicine", "date": "2008", "authors": "Bechtel LK, Haverstick DM, Holstege CP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18370992", "url": "https://glygen.org/publication/PubMed/18370992" } ] }, { "title": "Mammalian target of rapamycin and S6 kinase 1 positively regulate 6-thioguanine-induced autophagy.", "journal": "Cancer research", "date": "2008-04-01", "authors": "Zeng Xuehuo, Kinsella Timothy J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18381446", "url": "https://glygen.org/publication/PubMed/18381446" } ] }, { "title": "The eIF4E RNA regulon promotes the Akt signaling pathway.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Culjkovic B, Tan K, Orolicki S, Amri A, Meloche S, Borden KL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18391071", "url": "https://glygen.org/publication/PubMed/18391071" } ] }, { "title": "Muscle adaptation to short-term fasting in healthy lean humans.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2008", "authors": "Soeters MR, Sauerwein HP, Dubbelhuis PF, Groener JE, Ackermans MT, Fliers E, Aerts JM, Serlie MJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18397976", "url": "https://glygen.org/publication/PubMed/18397976" } ] }, { "title": "The potential role of Akt phosphorylation in human cancers.", "journal": "The International journal of biological markers", "date": "2008", "authors": "Cicenas J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18409144", "url": "https://glygen.org/publication/PubMed/18409144" } ] }, { "title": "DNA-dependent protein kinase catalytic subunit modulates the stability of c-Myc oncoprotein.", "journal": "Molecular cancer", "date": "2008", "authors": "An J, Yang DY, Xu QZ, Zhang SM, Huo YY, Shang ZF, Wang Y, Wu DC, Zhou PK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18426604", "url": "https://glygen.org/publication/PubMed/18426604" } ] }, { "title": "siRNA-mediated reduction of inhibitor of nuclear factor-kappaB kinase prevents tumor necrosis factor-alpha-induced insulin resistance in human skeletal muscle.", "journal": "Diabetes", "date": "2008", "authors": "Austin RL, Rune A, Bouzakri K, Zierath JR, Krook A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18443205", "url": "https://glygen.org/publication/PubMed/18443205" } ] }, { "title": "Role of Bax in quercetin-induced apoptosis in human prostate cancer cells.", "journal": "Biochemical pharmacology", "date": "2008", "authors": "Lee DH, Szczepanski M, Lee YJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18455702", "url": "https://glygen.org/publication/PubMed/18455702" } ] }, { "title": "Thr308 determines Akt1 nuclear localization in insulin-stimulated keratinocytes.", "journal": "Biochemical and biophysical research communications", "date": "2008", "authors": "Goren I, Muller E, Pfeilschifter J, Frank S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18477468", "url": "https://glygen.org/publication/PubMed/18477468" } ] }, { "title": "The ATP-gated P2X1 receptor plays a pivotal role in activation of aspirin-treated platelets by thrombin and epinephrine.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Grenegard M, Vretenbrant-Oberg K, Nylander M, Desilets S, Lindstrom EG, Larsson A, Ramstrom I, Ramstrom S, Lindahl TL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18480058", "url": "https://glygen.org/publication/PubMed/18480058" } ] }, { "title": "Epidermal growth factor-stimulated extravillous cytotrophoblast motility is mediated by the activation of PI3-K, Akt and both p38 and p42/44 mitogen-activated protein kinases.", "journal": "Human reproduction (Oxford, England)", "date": "2008", "authors": "LaMarca HL, Dash PR, Vishnuthevan K, Harvey E, Sullivan DE, Morris CA, Whitley GS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18487214", "url": "https://glygen.org/publication/PubMed/18487214" } ] }, { "title": "Insights into the structural specificity of the cytotoxicity of 3-deoxyphosphatidylinositols.", "journal": "Journal of the American Chemical Society", "date": "2008", "authors": "Wang YK, Chen W, Blair D, Pu M, Xu Y, Miller SJ, Redfield AG, Chiles TC, Roberts MF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18498165", "url": "https://glygen.org/publication/PubMed/18498165" } ] }, { "title": "AKR1C2 and AKR1C3 mediated prostaglandin D2 metabolism augments the PI3K/Akt proliferative signaling pathway in human prostate cancer cells.", "journal": "Molecular and cellular endocrinology", "date": "2008", "authors": "Wang S, Yang Q, Fung KM, Lin HK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18508192", "url": "https://glygen.org/publication/PubMed/18508192" } ] }, { "title": "Mel-18 negatively regulates INK4a/ARF-independent cell cycle progression via Akt inactivation in breast cancer.", "journal": "Cancer research", "date": "2008-06-01", "authors": "Lee Jeong-Yeon, Jang Ki-Seok, Shin Dong-Hui, Oh Mi-Yun, Kim Hyun-Jun, Kim Yongseok, Kong Gu", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18519679", "url": "https://glygen.org/publication/PubMed/18519679" } ] }, { "title": "Decrease in Akt/PKB signalling in human skeletal muscle by resistance exercise.", "journal": "European journal of applied physiology", "date": "2008-09", "authors": "Deldicque Louise, Atherton Philip, Patel Rekha, Theisen Daniel, Nielens Henri, Rennie Michael J, Francaux Marc", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18535836", "url": "https://glygen.org/publication/PubMed/18535836" } ] }, { "title": "Cilostazol inhibits oxidative stress-induced premature senescence via upregulation of Sirt1 in human endothelial cells.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2008-09", "authors": "Ota Hidetaka, Eto Masato, Kano Mitsunobu R, Ogawa Sumito, Iijima Katsuya, Akishita Masahiro, Ouchi Yasuyoshi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18556572", "url": "https://glygen.org/publication/PubMed/18556572" } ] }, { "title": "Infliximab inhibits DNA repair in ultraviolet B-irradiated premalignant keratinocytes.", "journal": "Experimental dermatology", "date": "2008", "authors": "Faurschou A, Gniadecki R, Wulf HC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18557931", "url": "https://glygen.org/publication/PubMed/18557931" } ] }, { "title": "Resistance exercise decreases eIF2Bepsilon phosphorylation and potentiates the feeding-induced stimulation of p70S6K1 and rpS6 in young men.", "journal": "American journal of physiology. Regulatory, integrative and comparative physiology", "date": "2008", "authors": "Glover EI, Oates BR, Tang JE, Moore DR, Tarnopolsky MA, Phillips SM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18565837", "url": "https://glygen.org/publication/PubMed/18565837" } ] }, { "title": "Proapoptotic activity and chemosensitizing effect of the novel Akt inhibitor (2S)-1-(1H-Indol-3-yl)-3-[5-(3-methyl-2H-indazol-5-yl)pyridin-3-yl]oxypropan2-ami ne (A443654) in T-cell acute lymphoblastic leukemia.", "journal": "Molecular pharmacology", "date": "2008", "authors": "Fala F, Blalock WL, Tazzari PL, Cappellini A, Chiarini F, Martinelli G, Tafuri A, McCubrey JA, Cocco L, Martelli AM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18577685", "url": "https://glygen.org/publication/PubMed/18577685" } ] }, { "title": "Erythropoietin promotes axonal growth in a model of neuronal polarization.", "journal": "Molecular and cellular neurosciences", "date": "2008", "authors": "Ransome MI, Turnley AM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18586515", "url": "https://glygen.org/publication/PubMed/18586515" } ] }, { "title": "Globular adiponectin stimulates glucose transport in type 2 diabetic muscle.", "journal": "Diabetes/metabolism research and reviews", "date": "2008-10", "authors": "Kuoppamaa Heidi, Skrobuk Paulina, Sihvo Maarit, Hiukka Anne, Chibalin Alexander V, Zierath Juleen R, Koistinen Heikki A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18615850", "url": "https://glygen.org/publication/PubMed/18615850" } ] }, { "title": "Class I PI3 kinase inhibition by the pyridinylfuranopyrimidine inhibitor PI-103 enhances tumor radiosensitivity.", "journal": "Cancer research", "date": "2008-07-15", "authors": "Prevo Remko, Deutsch Eric, Sampson Oliver, Diplexcito Julie, Cengel Keith, Harper Jane, O'Neill Peter, McKenna W Gillies, Patel Sonal, Bernhard Eric J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18632646", "url": "https://glygen.org/publication/PubMed/18632646" } ] }, { "title": "Dopamine inhibits mitochondrial motility in hippocampal neurons.", "journal": "PloS one", "date": "2008", "authors": "Chen S, Owens GC, Edelman DB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18665222", "url": "https://glygen.org/publication/PubMed/18665222" } ] }, { "title": "Rosiglitazone inhibits adrenocortical cancer cell proliferation by interfering with the IGF-IR intracellular signaling.", "journal": "PPAR research", "date": "2008", "authors": "Cantini G, Lombardi A, Piscitelli E, Poli G, Ceni E, Marchiani S, Ercolino T, Galli A, Serio M, Mannelli M, Luconi M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18670617", "url": "https://glygen.org/publication/PubMed/18670617" } ] }, { "title": "Roles of phosphatidylinositol 3-kinase-Akt and NADPH oxidase in adenosine 5'-triphosphate-sensitive K+ channel function impaired by high glucose in the human artery.", "journal": "Hypertension (Dallas, Tex. : 1979)", "date": "2008", "authors": "Kinoshita H, Matsuda N, Kaba H, Hatakeyama N, Azma T, Nakahata K, Kuroda Y, Tange K, Iranami H, Hatano Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18678787", "url": "https://glygen.org/publication/PubMed/18678787" } ] }, { "title": "Laser capture microdissection and protein microarray analysis of human non-small cell lung cancer: differential epidermal growth factor receptor (EGPR) phosphorylation events associated with mutated EGFR compared with wild type.", "journal": "Molecular & cellular proteomics : MCP", "date": "2008", "authors": "VanMeter AJ, Rodriguez AS, Bowman ED, Jen J, Harris CC, Deng J, Calvert VS, Silvestri A, Fredolini C, Chandhoke V, Petricoin EF 3rd, Liotta LA, Espina V", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18687633", "url": "https://glygen.org/publication/PubMed/18687633" } ] }, { "title": "Down-regulation of the PI3-kinase/Akt pathway by ERK MAP kinase in growth factor signaling.", "journal": "Genes to cells : devoted to molecular & cellular mechanisms", "date": "2008", "authors": "Hayashi H, Tsuchiya Y, Nakayama K, Satoh T, Nishida E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18691227", "url": "https://glygen.org/publication/PubMed/18691227" } ] }, { "title": "Nuclear translocation of active AKT is required for erythroid differentiation in erythropoietin treated K562 erythroleukemia cells.", "journal": "The international journal of biochemistry & cell biology", "date": "2009", "authors": "Missiroli S, Etro D, Buontempo F, Ye K, Capitani S, Neri LM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18694847", "url": "https://glygen.org/publication/PubMed/18694847" } ] }, { "title": "Plant flavonoid apigenin inactivates Akt to trigger apoptosis in human prostate cancer: an in vitro and in vivo study.", "journal": "Carcinogenesis", "date": "2008", "authors": "Kaur P, Shukla S, Gupta S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18725386", "url": "https://glygen.org/publication/PubMed/18725386" } ] }, { "title": "Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling.", "journal": "PloS one", "date": "2008", "authors": "She QB, Chandarlapaty S, Ye Q, Lobo J, Haskell KM, Leander KR, DeFeo-Jones D, Huber HE, Rosen N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18725974", "url": "https://glygen.org/publication/PubMed/18725974" } ] }, { "title": "Molecular pathways involved in the synergistic interaction of the PKC beta inhibitor enzastaurin with the antifolate pemetrexed in non-small cell lung cancer cells.", "journal": "British journal of cancer", "date": "2008-09-02", "authors": "Tekle C, Giovannetti E, Sigmond J, Graff J R, Smid K, Peters G J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18728666", "url": "https://glygen.org/publication/PubMed/18728666" } ] }, { "title": "Ser9 phosphorylation of mitochondrial GSK-3beta is a primary mechanism of cardiomyocyte protection by erythropoietin against oxidant-induced apoptosis.", "journal": "American journal of physiology. Heart and circulatory physiology", "date": "2008", "authors": "Ohori K, Miura T, Tanno M, Miki T, Sato T, Ishikawa S, Horio Y, Shimamoto K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18805899", "url": "https://glygen.org/publication/PubMed/18805899" } ] }, { "title": "Pro-survival effects of repetitive low-grade oxidative stress are inhibited by simultaneous exposure to Resveratrol.", "journal": "Pharmacological research", "date": "2008", "authors": "Chakraborty PK, Mustafi SB, Raha S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18812223", "url": "https://glygen.org/publication/PubMed/18812223" } ] }, { "title": "Metastasis and AKT activation.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2008", "authors": "Qiao M, Sheng S, Pardee AB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18818526", "url": "https://glygen.org/publication/PubMed/18818526" } ] }, { "title": "Epigallocatechin-3-gallate diminishes CCL2 expression in human osteoblastic cells via up-regulation of phosphatidylinositol 3-Kinase/Akt/Raf-1 interaction: a potential therapeutic benefit for arthritis.", "journal": "Arthritis and rheumatism", "date": "2008", "authors": "Lin SK, Chang HH, Chen YJ, Wang CC, Galson DL, Hong CY, Kok SH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18821707", "url": "https://glygen.org/publication/PubMed/18821707" } ] }, { "title": "TOR complex 2 is needed for cell cycle progression and anchorage-independent growth of MCF7 and PC3 tumor cells.", "journal": "BMC cancer", "date": "2008-10-03", "authors": "Hietakangas Ville, Cohen Stephen M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18831768", "url": "https://glygen.org/publication/PubMed/18831768" } ] }, { "title": "Role of the phosphoinositide 3-kinase-Akt-mammalian target of the rapamycin signaling pathway in long-term potentiation and trace fear conditioning memory in rat medial prefrontal cortex.", "journal": "Learning & memory (Cold Spring Harbor, N.Y.)", "date": "2008", "authors": "Sui L, Wang J, Li BM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18832563", "url": "https://glygen.org/publication/PubMed/18832563" } ] }, { "title": "Adenylyl cyclase type VI increases Akt activity and phospholamban phosphorylation in cardiac myocytes.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Gao MH, Tang T, Guo T, Miyanohara A, Yajima T, Pestonjamasp K, Feramisco JR, Hammond HK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18838385", "url": "https://glygen.org/publication/PubMed/18838385" } ] }, { "title": "Akt inhibition promotes autophagy and sensitizes PTEN-null tumors to lysosomotropic agents.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Degtyarev M, De Maziere A, Orr C, Lin J, Lee BB, Tien JY, Prior WW, van Dijk S, Wu H, Gray DC, Davis DP, Stern HM, Murray LJ, Hoeflich KP, Klumperman J, Friedman LS, Lin K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18838554", "url": "https://glygen.org/publication/PubMed/18838554" } ] }, { "title": "Is PTEN loss associated with clinical outcome measures in human prostate cancer?", "journal": "British journal of cancer", "date": "2008", "authors": "McCall P, Witton CJ, Grimsley S, Nielsen KV, Edwards J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18854827", "url": "https://glygen.org/publication/PubMed/18854827" } ] }, { "title": "Akt activates NOS3 and separately restores barrier integrity in H2O2-stressed human cardiac microvascular endothelium.", "journal": "American journal of physiology. Heart and circulatory physiology", "date": "2008", "authors": "Dossumbekova A, Berdyshev EV, Gorshkova I, Shao Z, Li C, Long P, Joshi A, Natarajan V, Vanden Hoek TL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18931031", "url": "https://glygen.org/publication/PubMed/18931031" } ] }, { "title": "Silencing the cochaperone CDC37 destabilizes kinase clients and sensitizes cancer cells to HSP90 inhibitors.", "journal": "Oncogene", "date": "2009", "authors": "Smith JR, Clarke PA, de Billy E, Workman P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18931700", "url": "https://glygen.org/publication/PubMed/18931700" } ] }, { "title": "Altered PI3-kinase/Akt signalling in skeletal muscle of young men with low birth weight.", "journal": "PloS one", "date": "2008", "authors": "Jensen CB, Martin-Gronert MS, Storgaard H, Madsbad S, Vaag A, Ozanne SE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19011679", "url": "https://glygen.org/publication/PubMed/19011679" } ] }, { "title": "Simultaneous blockade of AP-1 and phosphatidylinositol 3-kinase pathway in non-small cell lung cancer cells.", "journal": "British journal of cancer", "date": "2008-12-16", "authors": "Kikuchi J, Kinoshita I, Shimizu Y, Oizumi S, Nishimura M, Birrer M J, Dosaka-Akita H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19018257", "url": "https://glygen.org/publication/PubMed/19018257" } ] }, { "title": "Generation of a functional and durable vascular niche by the adenoviral E4ORF1 gene.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008-12-09", "authors": "Seandel Marco, Butler Jason M, Kobayashi Hideki, Hooper Andrea T, White Ian A, Zhang Fan, Vertes Eva L, Kobayashi Mariko, Zhang Yan, Shmelkov Sergey V, Hackett Neil R, Rabbany Sina, Boyer Julie L, Rafii Shahin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19036927", "url": "https://glygen.org/publication/PubMed/19036927" } ] }, { "title": "Regional hippocampal differences in AKT survival signaling across the lifespan: implications for CA1 vulnerability with aging.", "journal": "Cell death and differentiation", "date": "2009", "authors": "Jackson TC, Rani A, Kumar A, Foster TC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19039330", "url": "https://glygen.org/publication/PubMed/19039330" } ] }, { "title": "Membrane androgen receptor activation triggers down-regulation of PI-3K/Akt/NF-kappaB activity and induces apoptotic responses via Bad, FasL and caspase-3 in DU145 prostate cancer cells.", "journal": "Molecular cancer", "date": "2008", "authors": "Papadopoulou N, Charalampopoulos I, Anagnostopoulou V, Konstantinidis G, Foller M, Gravanis A, Alevizopoulos K, Lang F, Stournaras C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19055752", "url": "https://glygen.org/publication/PubMed/19055752" } ] }, { "title": "Frequent PTEN genomic alterations and activated phosphatidylinositol 3-kinase pathway in basal-like breast cancer cells.", "journal": "Breast cancer research : BCR", "date": "2008", "authors": "Marty B, Maire V, Gravier E, Rigaill G, Vincent-Salomon A, Kappler M, Lebigot I, Djelti F, Tourdes A, Gestraud P, Hupe P, Barillot E, Cruzalegui F, Tucker GC, Stern MH, Thiery JP, Hickman JA, Dubois T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19055754", "url": "https://glygen.org/publication/PubMed/19055754" } ] }, { "title": "The genomic analysis of lactic acidosis and acidosis response in human cancers.", "journal": "PLoS genetics", "date": "2008", "authors": "Chen JL, Lucas JE, Schroeder T, Mori S, Wu J, Nevins J, Dewhirst M, West M, Chi JT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19057672", "url": "https://glygen.org/publication/PubMed/19057672" } ] }, { "title": "Laminin acts via focal adhesion kinase/phosphatidylinositol-3' kinase/protein kinase B to down-regulate beta1-adrenergic receptor signalling in cat atrial myocytes.", "journal": "The Journal of physiology", "date": "2009-02-01", "authors": "Wang Y G, Ji X, Pabbidi M, Samarel A M, Lipsius S L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19064616", "url": "https://glygen.org/publication/PubMed/19064616" } ] }, { "title": "c-Src-p38 mitogen-activated protein kinase signaling is required for Akt activation in response to ionizing radiation.", "journal": "Molecular cancer research : MCR", "date": "2008", "authors": "Kim MJ, Byun JY, Yun CH, Park IC, Lee KH, Lee SJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19074832", "url": "https://glygen.org/publication/PubMed/19074832" } ] }, { "title": "Loss of PHLPP expression in colon cancer: role in proliferation and tumorigenesis.", "journal": "Oncogene", "date": "2009", "authors": "Liu J, Weiss HL, Rychahou P, Jackson LN, Evers BM, Gao T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19079341", "url": "https://glygen.org/publication/PubMed/19079341" } ] }, { "title": "Lung injury, inflammation and Akt signaling following inhalation of particulate hexavalent chromium.", "journal": "Toxicology and applied pharmacology", "date": "2009", "authors": "Beaver LM, Stemmy EJ, Constant SL, Schwartz A, Little LG, Gigley JP, Chun G, Sugden KD, Ceryak SM, Patierno SR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19109987", "url": "https://glygen.org/publication/PubMed/19109987" } ] }, { "title": "Regulation of mTORC1 and mTORC2 complex assembly by phosphatidic acid: competition with rapamycin.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Toschi A, Lee E, Xu L, Garcia A, Gadir N, Foster DA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19114562", "url": "https://glygen.org/publication/PubMed/19114562" } ] }, { "title": "Distinct roles for mammalian target of rapamycin complexes in the fibroblast response to transforming growth factor-beta.", "journal": "Cancer research", "date": "2009-01-01", "authors": "Rahimi Rod A, Andrianifahanana Mahefatiana, Wilkes Mark C, Edens Maryanne, Kottom Theodore J, Blenis John, Leof Edward B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19117990", "url": "https://glygen.org/publication/PubMed/19117990" } ] }, { "title": "Phosphoinositide 3-kinase targeting by the beta galactoside binding protein cytokine negates akt gene expression and leads aggressive breast cancer cells to apoptotic death.", "journal": "Breast cancer research : BCR", "date": "2009", "authors": "Wells V, Mallucci L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19133120", "url": "https://glygen.org/publication/PubMed/19133120" } ] }, { "title": "Iron oxide nanoparticles induce human microvascular endothelial cell permeability through reactive oxygen species production and microtubule remodeling.", "journal": "Particle and fibre toxicology", "date": "2009", "authors": "Apopa PL, Qian Y, Shao R, Guo NL, Schwegler-Berry D, Pacurari M, Porter D, Shi X, Vallyathan V, Castranova V, Flynn DC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19134195", "url": "https://glygen.org/publication/PubMed/19134195" } ] }, { "title": "Cell and molecular mechanisms of keratinocyte function stimulated by insulin during wound healing.", "journal": "BMC cell biology", "date": "2009", "authors": "Liu Y, Petreaca M, Yao M, Martins-Green M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19134226", "url": "https://glygen.org/publication/PubMed/19134226" } ] }, { "title": "The level of AKT phosphorylation on threonine 308 but not on serine 473 is associated with high-risk cytogenetics and predicts poor overall survival in acute myeloid leukaemia.", "journal": "Leukemia", "date": "2009", "authors": "Gallay N, Dos Santos C, Cuzin L, Bousquet M, Simmonet Gouy V, Chaussade C, Attal M, Payrastre B, Demur C, Recher C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19158829", "url": "https://glygen.org/publication/PubMed/19158829" } ] }, { "title": "Consecutive bouts of diverse contractile activity alter acute responses in human skeletal muscle.", "journal": "Journal of applied physiology (Bethesda, Md. : 1985)", "date": "2009", "authors": "Coffey VG, Pilegaard H, Garnham AP, O'Brien BJ, Hawley JA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19164772", "url": "https://glygen.org/publication/PubMed/19164772" } ] }, { "title": "Role of a novel PH-kinase domain interface in PKB/Akt regulation: structural mechanism for allosteric inhibition.", "journal": "PLoS biology", "date": "2009", "authors": "Calleja V, Laguerre M, Parker PJ, Larijani B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19166270", "url": "https://glygen.org/publication/PubMed/19166270" } ] }, { "title": "Gastrointestinal growth factors and hormones have divergent effects on Akt activation.", "journal": "Cellular signalling", "date": "2009", "authors": "Berna MJ, Tapia JA, Sancho V, Thill M, Pace A, Hoffmann KM, Gonzalez-Fernandez L, Jensen RT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19166928", "url": "https://glygen.org/publication/PubMed/19166928" } ] }, { "title": "{beta}-Arrestin-2 Mediates Anti-apoptotic Signaling through Regulation of BAD Phosphorylation.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Ahn S, Kim J, Hara MR, Ren XR, Lefkowitz RJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19171933", "url": "https://glygen.org/publication/PubMed/19171933" } ] }, { "title": "BI-69A11-mediated inhibition of AKT leads to effective regression of xenograft melanoma.", "journal": "Pigment cell & melanoma research", "date": "2009", "authors": "Gaitonde S, De SK, Tcherpakov M, Dewing A, Yuan H, Riel-Mehan M, Krajewski S, Robertson G, Pellecchia M, Ronai Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19175524", "url": "https://glygen.org/publication/PubMed/19175524" } ] }, { "title": "Evaluation of intracellular signalling pathways in response to insulin-like growth factor I in apoptotic-resistant activated human hepatic stellate cells.", "journal": "Fibrogenesis & tissue repair", "date": "2009", "authors": "Gentilini A, Lottini B, Brogi M, Caligiuri A, Cosmi L, Marra F, Pinzani M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19183465", "url": "https://glygen.org/publication/PubMed/19183465" } ] }, { "title": "Active-site inhibitors of mTOR target rapamycin-resistant outputs of mTORC1 and mTORC2.", "journal": "PLoS biology", "date": "2009-02-10", "authors": "Feldman Morris E, Apsel Beth, Uotila Aino, Loewith Robbie, Knight Zachary A, Ruggero Davide, Shokat Kevan M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19209957", "url": "https://glygen.org/publication/PubMed/19209957" } ] }, { "title": "Beta-hydroxy-beta-methylbutyrate (HMB) stimulates myogenic cell proliferation, differentiation and survival via the MAPK/ERK and PI3K/Akt pathways.", "journal": "Biochimica et biophysica acta", "date": "2009", "authors": "Kornasio R, Riederer I, Butler-Browne G, Mouly V, Uni Z, Halevy O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19211028", "url": "https://glygen.org/publication/PubMed/19211028" } ] }, { "title": "NF-kappaB activation by Helicobacter pylori requires Akt-mediated phosphorylation of p65.", "journal": "BMC microbiology", "date": "2009", "authors": "Takeshima E, Tomimori K, Kawakami H, Ishikawa C, Sawada S, Tomita M, Senba M, Kinjo F, Mimuro H, Sasakawa C, Fujita J, Mori N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19216748", "url": "https://glygen.org/publication/PubMed/19216748" } ] }, { "title": "The expression of protein kinase B in gastric cancer cell apoptosis induced by 12-O-tetradecanoylphorbol-1, 3-acetate.", "journal": "Cellular & molecular biology letters", "date": "2009", "authors": "Zhang B, Xia C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19238332", "url": "https://glygen.org/publication/PubMed/19238332" } ] }, { "title": "TORC-specific phosphorylation of mammalian target of rapamycin (mTOR): phospho-Ser2481 is a marker for intact mTOR signaling complex 2.", "journal": "Cancer research", "date": "2009-03-01", "authors": "Copp Jeremy, Manning Gerard, Hunter Tony", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19244117", "url": "https://glygen.org/publication/PubMed/19244117" } ] }, { "title": "Synergistic effect of ERK inhibition on tetrandrine-induced apoptosis in A549 human lung carcinoma cells.", "journal": "Journal of veterinary science", "date": "2009", "authors": "Cho HS, Chang SH, Chung YS, Shin JY, Park SJ, Lee ES, Hwang SK, Kwon JT, Tehrani AM, Woo M, Noh MS, Hanifah H, Jin H, Xu CX, Cho MH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19255520", "url": "https://glygen.org/publication/PubMed/19255520" } ] }, { "title": "c-Src regulates Akt signaling in response to ghrelin via beta-arrestin signaling-independent and -dependent mechanisms.", "journal": "PloS one", "date": "2009", "authors": "Lodeiro M, Theodoropoulou M, Pardo M, Casanueva FF, Camina JP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19262695", "url": "https://glygen.org/publication/PubMed/19262695" } ] }, { "title": "siRNA-mediated integrin-linked kinase suppression: nonspecific effects of siRNA/cationic liposome complexes trigger changes in the expression of phosphorylated-AKT and mTOR independently of ILK silencing.", "journal": "Oligonucleotides", "date": "2009", "authors": "Verreault M, Bally MB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19284309", "url": "https://glygen.org/publication/PubMed/19284309" } ] }, { "title": "S9, a novel anticancer agent, exerts its anti-proliferative activity by interfering with both PI3K-Akt-mTOR signaling and microtubule cytoskeleton.", "journal": "PloS one", "date": "2009", "authors": "Zhang C, Yang N, Yang CH, Ding HS, Luo C, Zhang Y, Wu MJ, Zhang XW, Shen X, Jiang HL, Meng LH, Ding J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19293927", "url": "https://glygen.org/publication/PubMed/19293927" } ] }, { "title": "AKT/eNOS signaling module functions as a potential feedback loop in the growth hormone signaling pathway.", "journal": "Journal of molecular signaling", "date": "2009", "authors": "Li CJ, Elsasser TH, Kahl S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19320971", "url": "https://glygen.org/publication/PubMed/19320971" } ] }, { "title": "Photo-activation of the hydrophobic probe iodonaphthylazide in cells alters membrane protein function leading to cell death.", "journal": "BMC cell biology", "date": "2009-03-26", "authors": "Viard Mathias, Garg Himanshu, Blumenthal Robert, Raviv Yossef", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19323821", "url": "https://glygen.org/publication/PubMed/19323821" } ] }, { "title": "Proteomic analysis of phosphoproteins sensitive to a phosphatidylinositol 3-kinase inhibitor, ZSTK474, by using SELDI-TOF MS.", "journal": "Proteome science", "date": "2009", "authors": "Akashi T, Yamori T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19331694", "url": "https://glygen.org/publication/PubMed/19331694" } ] }, { "title": "Integrin-linked kinase is required for radial sorting of axons and Schwann cell remyelination in the peripheral nervous system.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Pereira JA, Benninger Y, Baumann R, Goncalves AF, Ozcelik M, Thurnherr T, Tricaud N, Meijer D, Fassler R, Suter U, Relvas JB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19349584", "url": "https://glygen.org/publication/PubMed/19349584" } ] }, { "title": "Increased AKT S473 phosphorylation after mTORC1 inhibition is rictor dependent and does not predict tumor cell response to PI3K/mTOR inhibition.", "journal": "Molecular cancer therapeutics", "date": "2009-04", "authors": "Breuleux Madlaina, Klopfenstein Matthieu, Stephan Christine, Doughty Cheryl A, Barys Louise, Maira Saveur-Michel, Kwiatkowski David, Lane Heidi A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19372546", "url": "https://glygen.org/publication/PubMed/19372546" } ] }, { "title": "Grape seed proanthocyanidins protect cardiomyocytes from ischemia and reperfusion injury via Akt-NOS signaling.", "journal": "Journal of cellular biochemistry", "date": "2009", "authors": "Shao ZH, Wojcik KR, Dossumbekova A, Hsu C, Mehendale SR, Li CQ, Qin Y, Sharp WW, Chang WT, Hamann KJ, Yuan CS, Hoek TL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19388003", "url": "https://glygen.org/publication/PubMed/19388003" } ] }, { "title": "Ku-0063794 is a specific inhibitor of the mammalian target of rapamycin (mTOR).", "journal": "The Biochemical journal", "date": "2009", "authors": "Garcia-Martinez JM, Moran J, Clarke RG, Gray A, Cosulich SC, Chresta CM, Alessi DR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19402821", "url": "https://glygen.org/publication/PubMed/19402821" } ] }, { "title": "The Akt inhibitor triciribine sensitizes prostate carcinoma cells to TRAIL-induced apoptosis.", "journal": "International journal of cancer", "date": "2009", "authors": "Dieterle A, Orth R, Daubrawa M, Grotemeier A, Alers S, Ullrich S, Lammers R, Wesselborg S, Stork B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19422047", "url": "https://glygen.org/publication/PubMed/19422047" } ] }, { "title": "Expression of mTOR pathway proteins in human amniotic fluid stem cells.", "journal": "International journal of molecular medicine", "date": "2009", "authors": "Siegel N, Valli A, Fuchs C, Rosner M, Hengstschlager M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19424604", "url": "https://glygen.org/publication/PubMed/19424604" } ] }, { "title": "Peptidyl-prolyl cis/trans isomerase Pin1 is critical for the regulation of PKB/Akt stability and activation phosphorylation.", "journal": "Oncogene", "date": "2009", "authors": "Liao Y, Wei Y, Zhou X, Yang JY, Dai C, Chen YJ, Agarwal NK, Sarbassov D, Shi D, Yu D, Hung MC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19448664", "url": "https://glygen.org/publication/PubMed/19448664" } ] }, { "title": "Chronic 17beta-estradiol treatment improves skeletal muscle insulin signaling pathway components in insulin resistance associated with aging.", "journal": "Age (Dordrecht, Netherlands)", "date": "2010-03", "authors": "Moreno M, Ordo\u00f1ez P, Alonso A, D\u00edaz F, Tolivia J, Gonz\u00e1lez C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19462258", "url": "https://glygen.org/publication/PubMed/19462258" } ] }, { "title": "Integrin-linked kinase can facilitate syncytialization and hormonal differentiation of the human trophoblast-derived BeWo cell line.", "journal": "Reproductive biology and endocrinology : RB&E", "date": "2009-05-22", "authors": "Butler Trina M, Elustondo Pia A, Hannigan Greg E, MacPhee Daniel J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19463178", "url": "https://glygen.org/publication/PubMed/19463178" } ] }, { "title": "Inhibitor hijacking of Akt activation.", "journal": "Nature chemical biology", "date": "2009", "authors": "Okuzumi T, Fiedler D, Zhang C, Gray DC, Aizenstein B, Hoffman R, Shokat KM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19465931", "url": "https://glygen.org/publication/PubMed/19465931" } ] }, { "title": "Phospholipid transfer protein reduces phosphorylation of tau in human neuronal cells.", "journal": "Journal of neuroscience research", "date": "2009", "authors": "Dong W, Albers JJ, Vuletic S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19472218", "url": "https://glygen.org/publication/PubMed/19472218" } ] }, { "title": "Overexpressing PKIB in prostate cancer promotes its aggressiveness by linking between PKA and Akt pathways.", "journal": "Oncogene", "date": "2009", "authors": "Chung S, Furihata M, Tamura K, Uemura M, Daigo Y, Nasu Y, Miki T, Shuin T, Fujioka T, Nakamura Y, Nakagawa H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19483721", "url": "https://glygen.org/publication/PubMed/19483721" } ] }, { "title": "Regulation of mammary stem/progenitor cells by PTEN/Akt/beta-catenin signaling.", "journal": "PLoS biology", "date": "2009", "authors": "Korkaya H, Paulson A, Charafe-Jauffret E, Ginestier C, Brown M, Dutcher J, Clouthier SG, Wicha MS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19492080", "url": "https://glygen.org/publication/PubMed/19492080" } ] }, { "title": "Functional interaction of mammalian target of rapamycin complexes in regulating mammalian cell size and cell cycle.", "journal": "Human molecular genetics", "date": "2009", "authors": "Rosner M, Fuchs C, Siegel N, Valli A, Hengstschlager M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19505958", "url": "https://glygen.org/publication/PubMed/19505958" } ] }, { "title": "p63 promotes cell survival through fatty acid synthase.", "journal": "PloS one", "date": "2009", "authors": "Sabbisetti V, Di Napoli A, Seeley A, Amato AM, O'Regan E, Ghebremichael M, Loda M, Signoretti S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19517019", "url": "https://glygen.org/publication/PubMed/19517019" } ] }, { "title": "Inhibition of Akt sensitises neuroblastoma cells to gold(III) porphyrin 1a, a novel antitumour drug induced apoptosis and growth inhibition.", "journal": "British journal of cancer", "date": "2009", "authors": "Li W, Xie Y, Sun RW, Liu Q, Young J, Yu WY, Che CM, Tam PK, Ren Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19550420", "url": "https://glygen.org/publication/PubMed/19550420" } ] }, { "title": "Essential roles of mTOR/Akt pathway in Aurora-A cell transformation.", "journal": "International journal of biological sciences", "date": "2009", "authors": "Taga M, Hirooka E, Ouchi T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19564927", "url": "https://glygen.org/publication/PubMed/19564927" } ] }, { "title": "Conditional drug screening shows that mitotic inhibitors induce AKT/PKB-insensitive apoptosis.", "journal": "Journal of chemical biology", "date": "2009", "authors": "Berndtsson M, Hernlund E, Shoshan MC, Linder S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19568785", "url": "https://glygen.org/publication/PubMed/19568785" } ] }, { "title": "PTEN/AKT pathway involved in histone deacetylases inhibitor induced cell growth inhibition and apoptosis of oral squamous cell carcinoma cells.", "journal": "Oral oncology", "date": "2009", "authors": "Gan YH, Zhang S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19574087", "url": "https://glygen.org/publication/PubMed/19574087" } ] }, { "title": "Higher intramuscular triacylglycerol in women does not impair insulin sensitivity and proximal insulin signaling.", "journal": "Journal of applied physiology (Bethesda, Md. : 1985)", "date": "2009", "authors": "Hoeg L, Roepstorff C, Thiele M, Richter EA, Wojtaszewski JF, Kiens B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19574502", "url": "https://glygen.org/publication/PubMed/19574502" } ] }, { "title": "Cell and molecular mechanisms of insulin-induced angiogenesis.", "journal": "Journal of cellular and molecular medicine", "date": "2009", "authors": "Liu Y, Petreaca M, Martins-Green M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19602055", "url": "https://glygen.org/publication/PubMed/19602055" } ] }, { "title": "Signaling events downstream of mammalian target of rapamycin complex 2 are attenuated in cells and tumors deficient for the tuberous sclerosis complex tumor suppressors.", "journal": "Cancer research", "date": "2009", "authors": "Huang J, Wu S, Wu CL, Manning BD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19602587", "url": "https://glygen.org/publication/PubMed/19602587" } ] }, { "title": "Carbachol induces p70S6K1 activation through an ERK-dependent but Akt-independent pathway in human colonic epithelial cells.", "journal": "Biochemical and biophysical research communications", "date": "2009", "authors": "Jiang X, Sinnett-Smith J, Rozengurt E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19615971", "url": "https://glygen.org/publication/PubMed/19615971" } ] }, { "title": "Catechins inhibit CXCL10 production from oncostatin M-stimulated human gingival fibroblasts.", "journal": "The Journal of nutritional biochemistry", "date": "2010", "authors": "Hosokawa Y, Hosokawa I, Ozaki K, Nakanishi T, Nakae H, Matsuo T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19616927", "url": "https://glygen.org/publication/PubMed/19616927" } ] }, { "title": "AKT (protein kinase B) is implicated in meiotic maturation of porcine oocytes.", "journal": "Reproduction (Cambridge, England)", "date": "2009", "authors": "Kalous J, Kubelka M, Solc P, Susor A, Motlik J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19633130", "url": "https://glygen.org/publication/PubMed/19633130" } ] }, { "title": "In vitro evaluation of pan-PI3-kinase inhibitor SF1126 in trastuzumab-sensitive and trastuzumab-resistant HER2-over-expressing breast cancer cells.", "journal": "Cancer chemotherapy and pharmacology", "date": "2010-03", "authors": "Ozbay Tuba, Durden Donald L, Liu Tongrui, O'Regan Ruth M, Nahta Rita", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19636556", "url": "https://glygen.org/publication/PubMed/19636556" } ] }, { "title": "PIK3CA alterations in Middle Eastern ovarian cancers.", "journal": "Molecular cancer", "date": "2009", "authors": "Abubaker J, Bavi P, Al-Haqawi W, Jehan Z, Munkarah A, Uddin S, Al-Kuraya KS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19638206", "url": "https://glygen.org/publication/PubMed/19638206" } ] }, { "title": "No major sex differences in muscle protein synthesis rates in the postabsorptive state and during hyperinsulinemia-hyperaminoacidemia in middle-aged adults.", "journal": "Journal of applied physiology (Bethesda, Md. : 1985)", "date": "2009", "authors": "Smith GI, Atherton P, Reeds DN, Mohammed BS, Jaffery H, Rankin D, Rennie MJ, Mittendorfer B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19644030", "url": "https://glygen.org/publication/PubMed/19644030" } ] }, { "title": "LY294002 enhances boswellic acid-induced apoptosis in colon cancer cells.", "journal": "Anticancer research", "date": "2009", "authors": "Liu JJ, Duan RD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19661305", "url": "https://glygen.org/publication/PubMed/19661305" } ] }, { "title": "Curcumin inhibits proliferation of colorectal carcinoma by modulating Akt/mTOR signaling.", "journal": "Anticancer research", "date": "2009", "authors": "Johnson SM, Gulhati P, Arrieta I, Wang X, Uchida T, Gao T, Evers BM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19661333", "url": "https://glygen.org/publication/PubMed/19661333" } ] }, { "title": "Curcumin-induced apoptosis in ovarian carcinoma cells is p53-independent and involves p38 mitogen-activated protein kinase activation and downregulation of Bcl-2 and survivin expression and Akt signaling.", "journal": "Molecular carcinogenesis", "date": "2010", "authors": "Watson JL, Greenshields A, Hill R, Hilchie A, Lee PW, Giacomantonio CA, Hoskin DW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19676105", "url": "https://glygen.org/publication/PubMed/19676105" } ] }, { "title": "Inhibition of human tumour prostate PC-3 cell growth by cannabinoids R(+)-Methanandamide and JWH-015: involvement of CB2.", "journal": "British journal of cancer", "date": "2009-09-15", "authors": "Olea-Herrero N, Vara D, Malagarie-Cazenave S, D\u00edaz-Laviada I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19690545", "url": "https://glygen.org/publication/PubMed/19690545" } ] }, { "title": "Dithiolethione compounds inhibit Akt signaling in human breast and lung cancer cells by increasing PP2A activity.", "journal": "Oncogene", "date": "2009", "authors": "Switzer CH, Ridnour LA, Cheng RY, Sparatore A, Del Soldato P, Moody TW, Vitek MP, Roberts DD, Wink DA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19701246", "url": "https://glygen.org/publication/PubMed/19701246" } ] }, { "title": "Mutation of the Rb1 pathway leads to overexpression of mTor, constitutive phosphorylation of Akt on serine 473, resistance to anoikis, and a block in c-Raf activation.", "journal": "Molecular and cellular biology", "date": "2009-11", "authors": "El-Naggar Shahenda, Liu Yongqing, Dean Douglas C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19703998", "url": "https://glygen.org/publication/PubMed/19703998" } ] }, { "title": "Characterization of Rictor phosphorylation sites reveals direct regulation of mTOR complex 2 by S6K1.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Dibble CC, Asara JM, Manning BD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19720745", "url": "https://glygen.org/publication/PubMed/19720745" } ] }, { "title": "Chemerin is a novel adipocyte-derived factor inducing insulin resistance in primary human skeletal muscle cells.", "journal": "Diabetes", "date": "2009", "authors": "Sell H, Laurencikiene J, Taube A, Eckardt K, Cramer A, Horrighs A, Arner P, Eckel J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19720798", "url": "https://glygen.org/publication/PubMed/19720798" } ] }, { "title": "Involvement of RQCD1 overexpression, a novel cancer-testis antigen, in the Akt pathway in breast cancer cells.", "journal": "International journal of oncology", "date": "2009", "authors": "Ajiro M, Katagiri T, Ueda K, Nakagawa H, Fukukawa C, Lin ML, Park JH, Nishidate T, Daigo Y, Nakamura Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19724902", "url": "https://glygen.org/publication/PubMed/19724902" } ] }, { "title": "SSeCKS is a suppressor in Schwann cell differentiation and myelination.", "journal": "Neurochemical research", "date": "2010-02", "authors": "Ji Yuhong, Tao Tao, Cheng Chun, Yang Huiguang, Wang Youhua, Yang Junling, Liu Haiou, He Xinxing, Wang Huiming, Shen Aiguo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19757038", "url": "https://glygen.org/publication/PubMed/19757038" } ] }, { "title": "Oxidative stress inhibits insulin-like growth factor-I induction of chondrocyte proteoglycan synthesis through differential regulation of phosphatidylinositol 3-Kinase-Akt and MEK-ERK MAPK signaling pathways.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Yin W, Park JI, Loeser RF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19762915", "url": "https://glygen.org/publication/PubMed/19762915" } ] }, { "title": "The NF-kappaB/AKT-dependent Induction of Wnt Signaling in Colon Cancer Cells by Macrophages and IL-1beta.", "journal": "Cancer microenvironment : official journal of the International Cancer Microenvironment Society", "date": "2009", "authors": "Kaler P, Godasi BN, Augenlicht L, Klampfer L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19779850", "url": "https://glygen.org/publication/PubMed/19779850" } ] }, { "title": "L-DOPA-induced neurotoxicity is reduced by the activation of the PI3K signaling pathway.", "journal": "Toxicology", "date": "2009", "authors": "Park HH, Lee KY, Kim SH, Lee YJ, Koh SH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19786063", "url": "https://glygen.org/publication/PubMed/19786063" } ] }, { "title": "The insulin-like growth factor-1 receptor-targeting antibody, CP-751,871, suppresses tumor-derived VEGF and synergizes with rapamycin in models of childhood sarcoma.", "journal": "Cancer research", "date": "2009-10-01", "authors": "Kurmasheva Raushan T, Dudkin Lorina, Billups Catherine, Debelenko Larisa V, Morton Christopher L, Houghton Peter J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19789339", "url": "https://glygen.org/publication/PubMed/19789339" } ] }, { "title": "Suppression of growth, migration and invasion of highly-metastatic human breast cancer cells by berbamine and its molecular mechanisms of action.", "journal": "Molecular cancer", "date": "2009", "authors": "Wang S, Liu Q, Zhang Y, Liu K, Yu P, Liu K, Luan J, Duan H, Lu Z, Wang F, Wu E, Yagasaki K, Zhang G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19796390", "url": "https://glygen.org/publication/PubMed/19796390" } ] }, { "title": "PI3K p110 alpha and p110 beta have differential effects on Akt activation and protection against oxidative stress-induced apoptosis in myoblasts.", "journal": "Cell death and differentiation", "date": "2010", "authors": "Matheny RW Jr, Adamo ML", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19834495", "url": "https://glygen.org/publication/PubMed/19834495" } ] }, { "title": "Inhibitors of HSP90 block p95-HER2 signaling in Trastuzumab-resistant tumors and suppress their growth.", "journal": "Oncogene", "date": "2010-01-21", "authors": "Chandarlapaty S, Scaltriti M, Angelini P, Ye Q, Guzman M, Hudis C A, Norton L, Solit D B, Arribas J, Baselga J, Rosen N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19855434", "url": "https://glygen.org/publication/PubMed/19855434" } ] }, { "title": "Emerging evidence of a link between the polycystins and the mTOR pathways.", "journal": "PathoGenetics", "date": "2009", "authors": "Boletta A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19863783", "url": "https://glygen.org/publication/PubMed/19863783" } ] }, { "title": "Aurora-A down-regulates IkappaBalpha via Akt activation and interacts with insulin-like growth factor-1 induced phosphatidylinositol 3-kinase pathway for cancer cell survival.", "journal": "Molecular cancer", "date": "2009-11-05", "authors": "Yao Jin-E, Yan Min, Guan Zhong, Pan Chao-Bin, Xia Liang-Ping, Li Chuan-Xing, Wang Li-Hui, Long Zi-Jie, Zhao Yan, Li Ming-Wei, Zheng Fei-Meng, Xu Jie, Lin Dong-Jun, Liu Quentin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19891769", "url": "https://glygen.org/publication/PubMed/19891769" } ] }, { "title": "Stoichiometric quantification of Akt phosphorylation using LC-MS/MS.", "journal": "Journal of proteome research", "date": "2010-02-05", "authors": "Atrih Abdelmadjid, Turnock Dan, Sellar Grant, Thompson Alastair, Feuerstein Giora, Ferguson Michael A J, Huang Jeffrey T-J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19902931", "url": "https://glygen.org/publication/PubMed/19902931" } ] }, { "title": "Phosphatome profiling reveals PTPN2, PTPRJ and PTEN as potent negative regulators of PKB/Akt activation in Ras-mutated cancer cells.", "journal": "The Biochemical journal", "date": "2010-01-27", "authors": "Omerovic Jasminka, Clague Michael J, Prior Ian A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19922411", "url": "https://glygen.org/publication/PubMed/19922411" } ] }, { "title": "Selenium enrichment of broccoli sprout extract increases chemosensitivity and apoptosis of LNCaP prostate cancer cells.", "journal": "BMC cancer", "date": "2009", "authors": "Abdulah R, Faried A, Kobayashi K, Yamazaki C, Suradji EW, Ito K, Suzuki K, Murakami M, Kuwano H, Koyama H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19943972", "url": "https://glygen.org/publication/PubMed/19943972" } ] }, { "title": "Her2 activates NF-kappaB and induces invasion through the canonical pathway involving IKKalpha.", "journal": "Oncogene", "date": "2010", "authors": "Merkhofer EC, Cogswell P, Baldwin AS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19946332", "url": "https://glygen.org/publication/PubMed/19946332" } ] }, { "title": "Environmental endocrine disruptors promote invasion and metastasis of SK-N-SH human neuroblastoma cells.", "journal": "Oncology reports", "date": "2010", "authors": "Zhu H, Zheng J, Xiao X, Zheng S, Dong K, Liu J, Wang Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19956873", "url": "https://glygen.org/publication/PubMed/19956873" } ] }, { "title": "Integrated Molecular and Clinical Analysis of AKT Activation in Metastatic Melanoma.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2009", "authors": "Davies MA, Stemke-Hale K, Lin E, Tellez C, Deng W, Gopal YN, Woodman SE, Calderone TC, Ju Z, Lazar AJ, Prieto VG, Aldape K, Mills GB, Gershenwald JE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19996208", "url": "https://glygen.org/publication/PubMed/19996208" } ] }, { "title": "JC virus mediates invasion and migration in colorectal metastasis.", "journal": "PloS one", "date": "2009", "authors": "Link A, Shin SK, Nagasaka T, Balaguer F, Koi M, Jung B, Boland CR, Goel A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19997600", "url": "https://glygen.org/publication/PubMed/19997600" } ] }, { "title": "A phosphoinositide 3-kinase/phospholipase Cgamma1 pathway regulates fibroblast growth factor-induced capillary tube formation.", "journal": "PloS one", "date": "2009", "authors": "Maffucci T, Raimondi C, Abu-Hayyeh S, Dominguez V, Sala G, Zachary I, Falasca M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20011604", "url": "https://glygen.org/publication/PubMed/20011604" } ] }, { "title": "RAD 001 (everolimus) prevents mTOR and Akt late re-activation in response to imatinib in chronic myeloid leukemia.", "journal": "Journal of cellular biochemistry", "date": "2010", "authors": "Mancini M, Petta S, Martinelli G, Barbieri E, Santucci MA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20014066", "url": "https://glygen.org/publication/PubMed/20014066" } ] }, { "title": "Striatal Akt/GSK3 signaling pathway in the development of L-Dopa-induced dyskinesias in MPTP monkeys.", "journal": "Progress in neuro-psychopharmacology & biological psychiatry", "date": "2010", "authors": "Morissette M, Samadi P, Hadj Tahar A, Belanger N, Di Paolo T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20026151", "url": "https://glygen.org/publication/PubMed/20026151" } ] }, { "title": "FAK mediates the activation of cardiac fibroblasts induced by mechanical stress through regulation of the mTOR complex.", "journal": "Cardiovascular research", "date": "2010", "authors": "Dalla Costa AP, Clemente CF, Carvalho HF, Carvalheira JB, Nadruz W Jr, Franchini KG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20038548", "url": "https://glygen.org/publication/PubMed/20038548" } ] }, { "title": "T-cadherin modulates endothelial barrier function.", "journal": "Journal of cellular physiology", "date": "2010", "authors": "Andreeva AV, Han J, Kutuzov MA, Profirovic J, Tkachuk VA, Voyno-Yasenetskaya TA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20039275", "url": "https://glygen.org/publication/PubMed/20039275" } ] }, { "title": "Regulation of Akt(ser473) phosphorylation by choline kinase in breast carcinoma cells.", "journal": "Molecular cancer", "date": "2009", "authors": "Chua BT, Gallego-Ortega D, Ramirez de Molina A, Ullrich A, Lacal JC, Downward J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20042122", "url": "https://glygen.org/publication/PubMed/20042122" } ] }, { "title": "Interaction between Neuronal Depolarization and MK-801 in SH-SY5Y Cells and the Rat Cortex.", "journal": "Psychiatry investigation", "date": "2008", "authors": "Kim Y, Seo M, Lee YI, Kim SY, Cho EA, Kim SH, Ahn YM, Kang UG, Kim YS, Juhnn YS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20046351", "url": "https://glygen.org/publication/PubMed/20046351" } ] }, { "title": "P19 H-ras induces G1/S phase delay maintaining cells in a reversible quiescence state.", "journal": "PloS one", "date": "2009-12-30", "authors": "Camats Maria, Kokolo Mariette, Heesom Kate J, Ladomery Michael, Bach-Elias Montse", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20046837", "url": "https://glygen.org/publication/PubMed/20046837" } ] }, { "title": "Lung inflammation, injury, and proliferative response after repetitive particulate hexavalent chromium exposure.", "journal": "Environmental health perspectives", "date": "2009", "authors": "Beaver LM, Stemmy EJ, Schwartz AM, Damsker JM, Constant SL, Ceryak SM, Patierno SR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20049209", "url": "https://glygen.org/publication/PubMed/20049209" } ] }, { "title": "A novel inhibitor of the PI3K/Akt pathway based on the structure of inositol 1,3,4,5,6-pentakisphosphate.", "journal": "British journal of cancer", "date": "2010", "authors": "Falasca M, Chiozzotto D, Godage HY, Mazzoletti M, Riley AM, Previdi S, Potter BV, Broggini M, Maffucci T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20051961", "url": "https://glygen.org/publication/PubMed/20051961" } ] }, { "title": "Akt Cys-310-targeted inhibition by hydroxylated benzene derivatives is tightly linked to their immunosuppressive effects.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Lee JY, Lee YG, Lee J, Yang KJ, Kim AR, Kim JY, Won MH, Park J, Yoo BC, Kim S, Cho WJ, Cho JY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20054000", "url": "https://glygen.org/publication/PubMed/20054000" } ] }, { "title": "Inhibition of Akt signaling by exclusion from lipid rafts in normal and transformed epidermal keratinocytes.", "journal": "The Journal of investigative dermatology", "date": "2010", "authors": "Calay D, Vind-Kezunovic D, Frankart A, Lambert S, Poumay Y, Gniadecki R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20054340", "url": "https://glygen.org/publication/PubMed/20054340" } ] }, { "title": "The somatostatin analogue octreotide confers sensitivity to rapamycin treatment on pituitary tumor cells.", "journal": "Cancer research", "date": "2010", "authors": "Cerovac V, Monteserin-Garcia J, Rubinfeld H, Buchfelder M, Losa M, Florio T, Paez-Pereda M, Stalla GK, Theodoropoulou M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20068168", "url": "https://glygen.org/publication/PubMed/20068168" } ] }, { "title": "Regulation of Akt signaling activation by ubiquitination.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2010", "authors": "Yang WL, Wu CY, Wu J, Lin HK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20081374", "url": "https://glygen.org/publication/PubMed/20081374" } ] }, { "title": "TIMP-2 modulates VEGFR-2 phosphorylation and enhances phosphodiesterase activity in endothelial cells.", "journal": "Laboratory investigation; a journal of technical methods and pathology", "date": "2010", "authors": "Lee SJ, Tsang PS, Diaz TM, Wei BY, Stetler-Stevenson WG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20084057", "url": "https://glygen.org/publication/PubMed/20084057" } ] }, { "title": "Modulation of Akt and ERK1/2 pathways by resveratrol in chronic myelogenous leukemia (CML) cells results in the downregulation of Hsp70.", "journal": "PloS one", "date": "2010", "authors": "Banerjee Mustafi S, Chakraborty PK, Raha S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20090934", "url": "https://glygen.org/publication/PubMed/20090934" } ] }, { "title": "Pharmacological manipulation of the akt signaling pathway regulates myxoma virus replication and tropism in human cancer cells.", "journal": "Journal of virology", "date": "2010", "authors": "Werden SJ, McFadden G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20106927", "url": "https://glygen.org/publication/PubMed/20106927" } ] }, { "title": "Reactive oxygen species-activated Akt/ASK1/p38 signaling pathway in nickel compound-induced apoptosis in BEAS 2B cells.", "journal": "Chemical research in toxicology", "date": "2010", "authors": "Pan J, Chang Q, Wang X, Son Y, Zhang Z, Chen G, Luo J, Bi Y, Chen F, Shi X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20112989", "url": "https://glygen.org/publication/PubMed/20112989" } ] }, { "title": "Grb7 upregulation is a molecular adaptation to HER2 signaling inhibition due to removal of Akt-mediated gene repression.", "journal": "PloS one", "date": "2010", "authors": "Nencioni A, Cea M, Garuti A, Passalacqua M, Raffaghello L, Soncini D, Moran E, Zoppoli G, Pistoia V, Patrone F, Ballestrero A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20126311", "url": "https://glygen.org/publication/PubMed/20126311" } ] }, { "title": "Determinants Present in the Receptor Carboxy Tail Are Responsible for Differences in Subtype-Specific Coupling of beta-Adrenergic Receptors to Phosphoinositide 3-Kinase.", "journal": "International journal of cell biology", "date": "2009", "authors": "Simard J, Boucher M, Masse R, Hebert TE, Rousseau G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20130777", "url": "https://glygen.org/publication/PubMed/20130777" } ] }, { "title": "Full-length adiponectin attenuates insulin signaling and inhibits insulin-stimulated amino Acid transport in human primary trophoblast cells.", "journal": "Diabetes", "date": "2010", "authors": "Jones HN, Jansson T, Powell TL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20150288", "url": "https://glygen.org/publication/PubMed/20150288" } ] }, { "title": "PI3K/Akt/mTOR signaling regulates glutamate transporter 1 in astrocytes.", "journal": "Biochemical and biophysical research communications", "date": "2010", "authors": "Wu X, Kihara T, Akaike A, Niidome T, Sugimoto H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20152809", "url": "https://glygen.org/publication/PubMed/20152809" } ] }, { "title": "Modulation in activation and expression of phosphatase and tensin homolog on chromosome ten, Akt1, and 3-phosphoinositide-dependent kinase 1: further evidence demonstrating altered phosphoinositide 3-kinase signaling in postmortem brain of suicide subjects.", "journal": "Biological psychiatry", "date": "2010", "authors": "Dwivedi Y, Rizavi HS, Zhang H, Roberts RC, Conley RR, Pandey GN", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20163786", "url": "https://glygen.org/publication/PubMed/20163786" } ] }, { "title": "AMPK exerts dual regulatory effects on the PI3K pathway.", "journal": "Journal of molecular signaling", "date": "2010", "authors": "Tao R, Gong J, Luo X, Zang M, Guo W, Wen R, Luo Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20167101", "url": "https://glygen.org/publication/PubMed/20167101" } ] }, { "title": "Abrogation of Akt signaling by Isobavachalcone contributes to its anti-proliferative effects towards human cancer cells.", "journal": "Cancer letters", "date": "2010", "authors": "Jing H, Zhou X, Dong X, Cao J, Zhu H, Lou J, Hu Y, He Q, Yang B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20167420", "url": "https://glygen.org/publication/PubMed/20167420" } ] }, { "title": "Delineating genetic alterations for tumor progression in the MCF10A series of breast cancer cell lines.", "journal": "PloS one", "date": "2010", "authors": "Kadota M, Yang HH, Gomez B, Sato M, Clifford RJ, Meerzaman D, Dunn BK, Wakefield LM, Lee MP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20169162", "url": "https://glygen.org/publication/PubMed/20169162" } ] }, { "title": "REG IV overexpression in an early stage of colorectal carcinogenesis: an immunohistochemical study.", "journal": "Histology and histopathology", "date": "2010", "authors": "Li XH, Zheng Y, Zheng HC, Takahashi H, Yang XH, Masuda S, Takano Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20183800", "url": "https://glygen.org/publication/PubMed/20183800" } ] }, { "title": "Protein phosphatase-1 regulates Akt1 signal transduction pathway to control gene expression, cell survival and differentiation.", "journal": "Cell death and differentiation", "date": "2010", "authors": "Xiao L, Gong LL, Yuan D, Deng M, Zeng XM, Chen LL, Zhang L, Yan Q, Liu JP, Hu XH, Sun SM, Liu J, Ma HL, Zheng CB, Fu H, Chen PC, Zhao JQ, Xie SS, Zou LJ, Xiao YM, Liu WB, Zhang J, Liu Y, Li DW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20186153", "url": "https://glygen.org/publication/PubMed/20186153" } ] }, { "title": "DNA-PKcs plays a dominant role in the regulation of H2AX phosphorylation in response to DNA damage and cell cycle progression.", "journal": "BMC molecular biology", "date": "2010", "authors": "An J, Huang YC, Xu QZ, Zhou LJ, Shang ZF, Huang B, Wang Y, Liu XD, Wu DC, Zhou PK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20205745", "url": "https://glygen.org/publication/PubMed/20205745" } ] }, { "title": "Effect of paraquat-induced oxidative stress on insulin regulation of insulin-like growth factor-binding protein-1 gene expression.", "journal": "Journal of clinical biochemistry and nutrition", "date": "2010", "authors": "Kimura K, Katsumata Y, Ozawa T, Tawara S, Igarashi K, Cho Y, Shibata N, Hakuno F, Takahashi S, Takenaka A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20216949", "url": "https://glygen.org/publication/PubMed/20216949" } ] }, { "title": "Using siRNA to uncover novel oncogenic signaling pathways.", "journal": "Methods in molecular biology (Clifton, N.J.)", "date": "2010", "authors": "Lai JM, Huang CY, Chen CH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20217555", "url": "https://glygen.org/publication/PubMed/20217555" } ] }, { "title": "Downregulation of Epidermal Growth Factor Receptor Expression Contributes to alpha-TEA's Proapoptotic Effects in Human Ovarian Cancer Cell Lines.", "journal": "Journal of oncology", "date": "2010", "authors": "Shun MC, Yu W, Park SK, Sanders BG, Kline K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20224651", "url": "https://glygen.org/publication/PubMed/20224651" } ] }, { "title": "Fat cell-specific ablation of rictor in mice impairs insulin-regulated fat cell and whole-body glucose and lipid metabolism.", "journal": "Diabetes", "date": "2010", "authors": "Kumar A, Lawrence JC Jr, Jung DY, Ko HJ, Keller SR, Kim JK, Magnuson MA, Harris TE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20332342", "url": "https://glygen.org/publication/PubMed/20332342" } ] }, { "title": "Bilobalide prevents apoptosis through activation of the PI3K/Akt pathway in SH-SY5Y cells.", "journal": "Apoptosis : an international journal on programmed cell death", "date": "2010", "authors": "Shi C, Wu F, Yew DT, Xu J, Zhu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20333467", "url": "https://glygen.org/publication/PubMed/20333467" } ] }, { "title": "Synthesis and SAR of novel 4-morpholinopyrrolopyrimidine derivatives as potent phosphatidylinositol 3-kinase inhibitors.", "journal": "Journal of medicinal chemistry", "date": "2010", "authors": "Chen Z, Venkatesan AM, Dehnhardt CM, Ayral-Kaloustian S, Brooijmans N, Mallon R, Feldberg L, Hollander I, Lucas J, Yu K, Kong F, Mansour TS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20334367", "url": "https://glygen.org/publication/PubMed/20334367" } ] }, { "title": "Physical association of PDK1 with AKT1 is sufficient for pathway activation independent of membrane localization and phosphatidylinositol 3 kinase.", "journal": "PloS one", "date": "2010", "authors": "Ding Z, Liang J, Li J, Lu Y, Ariyaratna V, Lu Z, Davies MA, Westwick JK, Mills GB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20361045", "url": "https://glygen.org/publication/PubMed/20361045" } ] }, { "title": "Syrbactin class proteasome inhibitor-induced apoptosis and autophagy occurs in association with p53 accumulation and Akt/PKB activation in neuroblastoma.", "journal": "Biochemical pharmacology", "date": "2010", "authors": "Archer CR, Koomoa DL, Mitsunaga EM, Clerc J, Shimizu M, Kaiser M, Schellenberg B, Dudler R, Bachmann AS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20362557", "url": "https://glygen.org/publication/PubMed/20362557" } ] }, { "title": "Simultaneous inhibition of mTORC1 and mTORC2 by mTOR kinase inhibitor AZD8055 induces autophagy and cell death in cancer cells.", "journal": "Autophagy", "date": "2010", "authors": "Sini P, James D, Chresta C, Guichard S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20364113", "url": "https://glygen.org/publication/PubMed/20364113" } ] }, { "title": "RelB-dependent differential radiosensitization effect of STI571 on prostate cancer cells.", "journal": "Molecular cancer therapeutics", "date": "2010", "authors": "Xu Y, Fang F, Sun Y, St Clair DK, St Clair WH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20371728", "url": "https://glygen.org/publication/PubMed/20371728" } ] }, { "title": "Interleukin-6 inhibits endothelial nitric oxide synthase activation and increases endothelial nitric oxide synthase binding to stabilized caveolin-1 in human vascular endothelial cells.", "journal": "Journal of hypertension", "date": "2010", "authors": "Hung MJ, Cherng WJ, Hung MY, Wu HT, Pang JH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20375905", "url": "https://glygen.org/publication/PubMed/20375905" } ] }, { "title": "Angiotensin II inhibits insulin-stimulated GLUT4 translocation and Akt activation through tyrosine nitration-dependent mechanisms.", "journal": "PloS one", "date": "2010", "authors": "Csibi A, Communi D, Muller N, Bottari SP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20383279", "url": "https://glygen.org/publication/PubMed/20383279" } ] }, { "title": "Direct inhibition by angiotensin II of insulin-dependent glucose transport activity in mammalian skeletal muscle involves a ROS-dependent mechanism.", "journal": "Archives of physiology and biochemistry", "date": "2010", "authors": "Diamond-Stanic MK, Henriksen EJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20384568", "url": "https://glygen.org/publication/PubMed/20384568" } ] }, { "title": "Teratocarcinoma-derived growth factor-1 is upregulated in aldosterone-producing adenomas and increases aldosterone secretion and inhibits apoptosis in vitro.", "journal": "Hypertension (Dallas, Tex. : 1979)", "date": "2010", "authors": "Williams TA, Monticone S, Morello F, Liew CC, Mengozzi G, Pilon C, Asioli S, Sapino A, Veglio F, Mulatero P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20385969", "url": "https://glygen.org/publication/PubMed/20385969" } ] }, { "title": "TWISTing stemness, inflammation and proliferation of epithelial ovarian cancer cells through MIR199A2/214.", "journal": "Oncogene", "date": "2010", "authors": "Yin G, Chen R, Alvero AB, Fu HH, Holmberg J, Glackin C, Rutherford T, Mor G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20400975", "url": "https://glygen.org/publication/PubMed/20400975" } ] }, { "title": "Phosphatidylinositol 3-kinase inhibitor(LY294002) induces apoptosis of human nasopharyngeal carcinoma in vitro and in vivo.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2010", "authors": "Jiang H, Fan D, Zhou G, Li X, Deng H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20412566", "url": "https://glygen.org/publication/PubMed/20412566" } ] }, { "title": "Hsp90 and Hsp40/Erdj3 are required for the expression and anti-apoptotic function of KSHV K1.", "journal": "Oncogene", "date": "2010", "authors": "Wen KW, Damania B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20418907", "url": "https://glygen.org/publication/PubMed/20418907" } ] }, { "title": "p53 Plays an important role in cell fate determination after exposure to microcystin-LR.", "journal": "Environmental health perspectives", "date": "2010", "authors": "Takumi S, Komatsu M, Furukawa T, Ikeda R, Sumizawa T, Akenaga H, Maeda Y, Aoyama K, Arizono K, Ando S, Takeuchi T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20421190", "url": "https://glygen.org/publication/PubMed/20421190" } ] }, { "title": "Sulforaphane decreases viability and telomerase activity in hepatocellular carcinoma Hep3B cells through the reactive oxygen species-dependent pathway.", "journal": "Cancer letters", "date": "2010", "authors": "Moon DO, Kang SH, Kim KC, Kim MO, Choi YH, Kim GY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20451318", "url": "https://glygen.org/publication/PubMed/20451318" } ] }, { "title": "The masticatory contractile load induced expression and activation of Akt1/PKBalpha in muscle fibers at the myotendinous junction within muscle-tendon-bone unit.", "journal": "Journal of biomedicine & biotechnology", "date": "2010", "authors": "Korkmaz Y, Klinz FJ, Moghbeli M, Addicks K, Raab WH, Bloch W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20454577", "url": "https://glygen.org/publication/PubMed/20454577" } ] }, { "title": "Downregulation of caveolin-1 enhances fusion of human BeWo choriocarcinoma cells.", "journal": "PloS one", "date": "2010-05-06", "authors": "Collett Gavin P, Linton Elizabeth A, Redman Christopher W G, Sargent Ian L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20463894", "url": "https://glygen.org/publication/PubMed/20463894" } ] }, { "title": "Pigment epithelium-derived factor inhibits advanced glycation end products-induced retinal vascular permeability.", "journal": "Biochimie", "date": "2010", "authors": "Sheikpranbabu S, Haribalaganesh R, Lee KJ, Gurunathan S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20470857", "url": "https://glygen.org/publication/PubMed/20470857" } ] }, { "title": "The Akt activation inhibitor TCN-P inhibits Akt phosphorylation by binding to the PH domain of Akt and blocking its recruitment to the plasma membrane.", "journal": "Cell death and differentiation", "date": "2010", "authors": "Berndt N, Yang H, Trinczek B, Betzi S, Zhang Z, Wu B, Lawrence NJ, Pellecchia M, Schonbrunn E, Cheng JQ, Sebti SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5674400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5674400" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20489726", "url": "https://glygen.org/publication/PubMed/20489726" } ] }, { "title": "Limiting angiotensin II signaling with a cell-penetrating peptide mimicking the second intracellular loop of the angiotensin II type-I receptor.", "journal": "Chemical biology & drug design", "date": "2010-07", "authors": "Yu Jun, Taylor Linda, Mierke Dale, Berg Eric, Shia Michael, Fishman Jordan, Sallum Christine, Polgar Peter", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20492449", "url": "https://glygen.org/publication/PubMed/20492449" } ] }, { "title": "Apoptosis of stomach cancer cell SGC-7901 and regulation of Akt signaling way induced by bovine lactoferrin.", "journal": "Journal of dairy science", "date": "2010", "authors": "Xu XX, Jiang HR, Li HB, Zhang TN, Zhou Q, Liu N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20494139", "url": "https://glygen.org/publication/PubMed/20494139" } ] }, { "title": "Signal transduction mechanisms involved in S100A4-induced activation of the transcription factor NF-kappaB.", "journal": "BMC cancer", "date": "2010-05-28", "authors": "Grotter\u00f8d Ida, Maelandsmo Gunhild M, Boye Kjetil", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20507646", "url": "https://glygen.org/publication/PubMed/20507646" } ] }, { "title": "Protein kinase B (PKB/Akt), a key mediator of the PI3K signaling pathway.", "journal": "Current topics in microbiology and immunology", "date": "2010", "authors": "Fayard E, Xue G, Parcellier A, Bozulic L, Hemmings BA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20517722", "url": "https://glygen.org/publication/PubMed/20517722" } ] }, { "title": "Epistatic and functional interactions of catechol-o-methyltransferase (COMT) and AKT1 on neuregulin1-ErbB signaling in cell models.", "journal": "PloS one", "date": "2010", "authors": "Sei Y, Li Z, Song J, Ren-Patterson R, Tunbridge EM, Iizuka Y, Inoue M, Alfonso BT, Beltaifa S, Nakai Y, Kolachana BS, Chen J, Weinberger DR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20520724", "url": "https://glygen.org/publication/PubMed/20520724" } ] }, { "title": "The mechanisms underlying fibroblast apoptosis regulated by growth factors during wound healing.", "journal": "The Journal of pathology", "date": "2010", "authors": "Akasaka Y, Ono I, Kamiya T, Ishikawa Y, Kinoshita T, Ishiguro S, Yokoo T, Imaizumi R, Inomata N, Fujita K, Akishima-Fukasawa Y, Uzuki M, Ito K, Ishii T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20527022", "url": "https://glygen.org/publication/PubMed/20527022" } ] }, { "title": "IQGAP1 is overexpressed in hepatocellular carcinoma and promotes cell proliferation by Akt activation.", "journal": "Experimental & molecular medicine", "date": "2010", "authors": "Chen F, Zhu HH, Zhou LF, Wu SS, Wang J, Chen Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20530982", "url": "https://glygen.org/publication/PubMed/20530982" } ] }, { "title": "The chemopreventive retinoid 4HPR impairs prostate cancer cell migration and invasion by interfering with FAK/AKT/GSK3beta pathway and beta-catenin stability.", "journal": "Molecular cancer", "date": "2010", "authors": "Benelli R, Monteghirfo S, Vene R, Tosetti F, Ferrari N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20537156", "url": "https://glygen.org/publication/PubMed/20537156" } ] }, { "title": "GT1b-induced neurotoxicity is mediated by the Akt/GSK-3/tau signaling pathway but not caspase-3 in mesencephalic dopaminergic neurons.", "journal": "BMC neuroscience", "date": "2010", "authors": "Chung ES, Bok E, Sohn S, Lee YD, Baik HH, Jin BK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20540782", "url": "https://glygen.org/publication/PubMed/20540782" } ] }, { "title": "Dysregulation of the norepinephrine transporter sustains cortical hypodopaminergia and schizophrenia-like behaviors in neuronal rictor null mice.", "journal": "PLoS biology", "date": "2010", "authors": "Siuta MA, Robertson SD, Kocalis H, Saunders C, Gresch PJ, Khatri V, Shiota C, Kennedy JP, Lindsley CW, Daws LC, Polley DB, Veenstra-Vanderweele J, Stanwood GD, Magnuson MA, Niswender KD, Galli A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20543991", "url": "https://glygen.org/publication/PubMed/20543991" } ] }, { "title": "Enhancement of paclitaxel-induced apoptosis in HER2-overexpressing human breast cancer cells by a pertuzumab mimetic peptide, HRAP.", "journal": "Journal of bioscience and bioengineering", "date": "2010-08", "authors": "Nakajima Hiroo, Mizuta Naruhiko, Sakaguchi Koichi, Fujiwara Ikuya, Yoshimori Atsushi, Magae Junji, Tanuma Sei-Ichi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20547325", "url": "https://glygen.org/publication/PubMed/20547325" } ] }, { "title": "IGF-I activation of the AKT pathway is impaired in visceral but not subcutaneous preadipocytes from obese subjects.", "journal": "Endocrinology", "date": "2010", "authors": "Cleveland-Donovan K, Maile LA, Tsiaras WG, Tchkonia T, Kirkland JL, Boney CM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20555032", "url": "https://glygen.org/publication/PubMed/20555032" } ] }, { "title": "Mu-opioid receptors transiently activate the Akt-nNOS pathway to produce sustained potentiation of PKC-mediated NMDAR-CaMKII signaling.", "journal": "PloS one", "date": "2010", "authors": "Sanchez-Blazquez P, Rodriguez-Munoz M, Garzon J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20585660", "url": "https://glygen.org/publication/PubMed/20585660" } ] }, { "title": "Insulin-like growth factor-1 receptor and phosphorylated AKT-serine 473 expression in 132 resected thymomas and thymic carcinomas.", "journal": "Cancer", "date": "2010", "authors": "Zucali PA, Petrini I, Lorenzi E, Merino M, Cao L, Di Tommaso L, Lee HS, Incarbone M, Walter BA, Simonelli M, Roncalli M, Santoro A, Giaccone G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20597130", "url": "https://glygen.org/publication/PubMed/20597130" } ] }, { "title": "Inhibition of Akt signaling in hepatoma cells induces apoptotic cell death independent of Akt activation status.", "journal": "Investigational new drugs", "date": "2011", "authors": "Buontempo F, Ersahin T, Missiroli S, Senturk S, Etro D, Ozturk M, Capitani S, Cetin-Atalay R, Neri ML", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20628892", "url": "https://glygen.org/publication/PubMed/20628892" } ] }, { "title": "TRAIL sensitize MDR cells to MDR-related drugs by down-regulation of P-glycoprotein through inhibition of DNA-PKcs/Akt/GSK-3beta pathway and activation of caspases.", "journal": "Molecular cancer", "date": "2010", "authors": "Seo SB, Hur JG, Kim MJ, Lee JW, Kim HB, Bae JH, Kim DW, Kang CD, Kim SH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20663232", "url": "https://glygen.org/publication/PubMed/20663232" } ] }, { "title": "Akt/PKB suppresses DNA damage processing and checkpoint activation in late G2.", "journal": "The Journal of cell biology", "date": "2010", "authors": "Xu N, Hegarat N, Black EJ, Scott MT, Hochegger H, Gillespie DA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20679434", "url": "https://glygen.org/publication/PubMed/20679434" } ] }, { "title": "Osmoprotective transcription factor NFAT5/TonEBP modulates nuclear factor-kappaB activity.", "journal": "Molecular biology of the cell", "date": "2010", "authors": "Roth I, Leroy V, Kwon HM, Martin PY, Feraille E, Hasler U", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20685965", "url": "https://glygen.org/publication/PubMed/20685965" } ] }, { "title": "Targeting TORC2 in multiple myeloma with a new mTOR kinase inhibitor.", "journal": "Blood", "date": "2010-11-25", "authors": "Hoang Bao, Frost Patrick, Shi Yijiang, Belanger Eileen, Benavides Angelica, Pezeshkpour Gholam, Cappia Susanna, Guglielmelli Tommasina, Gera Joseph, Lichtenstein Alan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20686120", "url": "https://glygen.org/publication/PubMed/20686120" } ] }, { "title": "TCR-induced Akt serine 473 phosphorylation is regulated by protein kinase C-alpha.", "journal": "Biochemical and biophysical research communications", "date": "2010-09-10", "authors": "Yang Lifen, Qiao Guilin, Ying Haiyan, Zhang Jian, Yin Fei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20691662", "url": "https://glygen.org/publication/PubMed/20691662" } ] }, { "title": "Radiosensitization and growth inhibition of cancer cells mediated by an scFv antibody gene against DNA-PKcs in vitro and in vivo.", "journal": "Radiation oncology (London, England)", "date": "2010", "authors": "Du L, Zhou LJ, Pan XJ, Wang YX, Xu QZ, Yang ZH, Wang Y, Liu XD, Zhu MX, Zhou PK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20704701", "url": "https://glygen.org/publication/PubMed/20704701" } ] }, { "title": "Wnt1 neuroprotection translates into improved neurological function during oxidant stress and cerebral ischemia through AKT1 and mitochondrial apoptotic pathways.", "journal": "Oxidative medicine and cellular longevity", "date": "2010", "authors": "Chong ZZ, Shang YC, Hou J, Maiese K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20716939", "url": "https://glygen.org/publication/PubMed/20716939" } ] }, { "title": "YAP dysregulation by phosphorylation or DeltaNp63-mediated gene repression promotes proliferation, survival and migration in head and neck cancer subsets.", "journal": "Oncogene", "date": "2010", "authors": "Ehsanian R, Brown M, Lu H, Yang XP, Pattatheyil A, Yan B, Duggal P, Chuang R, Doondeea J, Feller S, Sudol M, Chen Z, Van Waes C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20729916", "url": "https://glygen.org/publication/PubMed/20729916" } ] }, { "title": "New hierarchical phosphorylation pathway of the translational repressor eIF4E-binding protein 1 (4E-BP1) in ischemia-reperfusion stress.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Ayuso MI, Hernandez-Jimenez M, Martin ME, Salinas M, Alcazar A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20736160", "url": "https://glygen.org/publication/PubMed/20736160" } ] }, { "title": "Inhibition of carcinoma cell motility by epoxyeicosatrienoic acid (EET) antagonists.", "journal": "Cancer science", "date": "2010", "authors": "Nithipatikom K, Brody DM, Tang AT, Manthati VL, Falck JR, Williams CL, Campbell WB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20804500", "url": "https://glygen.org/publication/PubMed/20804500" } ] }, { "title": "C4orf7 contributes to ovarian cancer metastasis by promoting cancer cell migration and invasion.", "journal": "Oncology reports", "date": "2010", "authors": "Wang C, Zhou L, Li S, Wei J, Wang W, Zhou T, Liao S, Weng D, Deng D, Weng Y, Wang S, Ma D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20811673", "url": "https://glygen.org/publication/PubMed/20811673" } ] }, { "title": "Prosurvival role of JAK/STAT and Akt signaling pathways in MPP+-induced apoptosis in neurons.", "journal": "Neurochemistry international", "date": "2010", "authors": "Junyent F, Alvira D, Yeste-Velasco M, de la Torre AV, Beas-Zarate C, Sureda FX, Folch J, Pallas M, Camins A, Verdaguer E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20817061", "url": "https://glygen.org/publication/PubMed/20817061" } ] }, { "title": "Discovery of small molecule inhibitors of the PH domain leucine-rich repeat protein phosphatase (PHLPP) by chemical and virtual screening.", "journal": "Journal of medicinal chemistry", "date": "2010", "authors": "Sierecki E, Sinko W, McCammon JA, Newton AC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20836557", "url": "https://glygen.org/publication/PubMed/20836557" } ] }, { "title": "Human marrow-derived mesenchymal stromal cells decrease cisplatin renotoxicity in vitro and in vivo and enhance survival of mice post-intraperitoneal injection.", "journal": "American journal of physiology. Renal physiology", "date": "2010", "authors": "Eliopoulos N, Zhao J, Bouchentouf M, Forner K, Birman E, Yuan S, Boivin MN, Martineau D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20844023", "url": "https://glygen.org/publication/PubMed/20844023" } ] }, { "title": "Salirasib inhibits the growth of hepatocarcinoma cell lines in vitro and tumor growth in vivo through ras and mTOR inhibition.", "journal": "Molecular cancer", "date": "2010", "authors": "Charette N, De Saeger C, Lannoy V, Horsmans Y, Leclercq I, Starkel P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20860815", "url": "https://glygen.org/publication/PubMed/20860815" } ] }, { "title": "AMPK-induced activation of Akt by AICAR is mediated by IGF-1R dependent and independent mechanisms in acute lymphoblastic leukemia.", "journal": "Journal of molecular signaling", "date": "2010", "authors": "Leclerc GM, Leclerc GJ, Fu G, Barredo JC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20863384", "url": "https://glygen.org/publication/PubMed/20863384" } ] }, { "title": "Presenilin-1 regulates induction of hypoxia inducible factor-1alpha: altered activation by a mutation associated with familial Alzheimer's disease.", "journal": "Molecular neurodegeneration", "date": "2010", "authors": "De Gasperi R, Sosa MA, Dracheva S, Elder GA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20863403", "url": "https://glygen.org/publication/PubMed/20863403" } ] }, { "title": "Glycogen Synthase Kinase-3 regulates multiple myeloma cell growth and bortezomib-induced cell death.", "journal": "BMC cancer", "date": "2010", "authors": "Piazza F, Manni S, Tubi LQ, Montini B, Pavan L, Colpo A, Gnoato M, Cabrelle A, Adami F, Zambello R, Trentin L, Gurrieri C, Semenzato G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20920357", "url": "https://glygen.org/publication/PubMed/20920357" } ] }, { "title": "NOD2 activation induces muscle cell-autonomous innate immune responses and insulin resistance.", "journal": "Endocrinology", "date": "2010-12", "authors": "Tamrakar Akhilesh K, Schertzer Jonathan D, Chiu Tim T, Foley Kevin P, Bilan Philip J, Philpott Dana J, Klip Amira", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20926588", "url": "https://glygen.org/publication/PubMed/20926588" } ] }, { "title": "The role of the focal adhesion protein PINCH1 for the radiosensitivity of adhesion and suspension cell cultures.", "journal": "PloS one", "date": "2010", "authors": "Sandfort V, Eke I, Cordes N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20927395", "url": "https://glygen.org/publication/PubMed/20927395" } ] }, { "title": "V600EBraf induces gastrointestinal crypt senescence and promotes tumour progression through enhanced CpG methylation of p16INK4a.", "journal": "EMBO molecular medicine", "date": "2010", "authors": "Carragher LA, Snell KR, Giblett SM, Aldridge VS, Patel B, Cook SJ, Winton DJ, Marais R, Pritchard CA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20941790", "url": "https://glygen.org/publication/PubMed/20941790" } ] }, { "title": "The multikinase inhibitor Sorafenib displays significant antiproliferative effects and induces apoptosis via caspase 3, 7 and PARP in B- and T-lymphoblastic cells.", "journal": "BMC cancer", "date": "2010", "authors": "Schult C, Dahlhaus M, Ruck S, Sawitzky M, Amoroso F, Lange S, Etro D, Glass A, Fuellen G, Boldt S, Wolkenhauer O, Neri LM, Freund M, Junghanss C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20950443", "url": "https://glygen.org/publication/PubMed/20950443" } ] }, { "title": "Signaling pathways leading to phosphorylation of Akt and GSK-3beta by activation of cloned human and rat cerebral D(2)and D(3) receptors.", "journal": "Molecular pharmacology", "date": "2011", "authors": "Mannoury la Cour C, Salles MJ, Pasteau V, Millan MJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20952497", "url": "https://glygen.org/publication/PubMed/20952497" } ] }, { "title": "The p110\u03b1 and p110\u03b2 isoforms of class I phosphatidylinositol 3-kinase are involved in toll-like receptor 5 signaling in epithelial cells.", "journal": "Mediators of inflammation", "date": "2010", "authors": "Ivison Sabine M, Khan Mohammed A S, Graham Nicholas R, Shobab Leila A, Yao Yu, Kifayet Arnawaz, Sly Laura M, Steiner Theodore S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20953381", "url": "https://glygen.org/publication/PubMed/20953381" } ] }, { "title": "Casein kinase 2 dependent phosphorylation of neprilysin regulates receptor tyrosine kinase signaling to Akt.", "journal": "PloS one", "date": "2010", "authors": "Siepmann M, Kumar S, Mayer G, Walter J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20957047", "url": "https://glygen.org/publication/PubMed/20957047" } ] }, { "title": "Alkylation of the tumor suppressor PTEN activates Akt and beta-catenin signaling: a mechanism linking inflammation and oxidative stress with cancer.", "journal": "PloS one", "date": "2010", "authors": "Covey TM, Edes K, Coombs GS, Virshup DM, Fitzpatrick FA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20975834", "url": "https://glygen.org/publication/PubMed/20975834" } ] }, { "title": "Dominant inhibition of Akt/protein kinase B signaling by the matrix protein of a negative-strand RNA virus.", "journal": "Journal of virology", "date": "2011", "authors": "Dunn EF, Connor JH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20980511", "url": "https://glygen.org/publication/PubMed/20980511" } ] }, { "title": "Chronic treatment with epoxyeicosatrienoic acids modulates insulin signaling and prevents insulin resistance in hepatocytes.", "journal": "Prostaglandins & other lipid mediators", "date": "2011", "authors": "Skepner JE, Shelly LD, Ji C, Reidich B, Luo Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21040800", "url": "https://glygen.org/publication/PubMed/21040800" } ] }, { "title": "Differential regulation of growth-promoting signalling pathways by E-cadherin.", "journal": "PloS one", "date": "2010", "authors": "Georgopoulos NT, Kirkwood LA, Walker DC, Southgate J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21049033", "url": "https://glygen.org/publication/PubMed/21049033" } ] }, { "title": "Plexin-B1 silencing inhibits ovarian cancer cell migration and invasion.", "journal": "BMC cancer", "date": "2010", "authors": "Ye S, Hao X, Zhou T, Wu M, Wei J, Wang Y, Zhou L, Jiang X, Ji L, Chen Y, You L, Zhang Y, Xu G, Zhou J, Ma D, Wang S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21059203", "url": "https://glygen.org/publication/PubMed/21059203" } ] }, { "title": "Reverse-phase phosphoproteome analysis of signaling pathways induced by Rift valley fever virus in human small airway epithelial cells.", "journal": "PloS one", "date": "2010", "authors": "Popova TG, Turell MJ, Espina V, Kehn-Hall K, Kidd J, Narayanan A, Liotta L, Petricoin EF 3rd, Kashanchi F, Bailey C, Popov SG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21072193", "url": "https://glygen.org/publication/PubMed/21072193" } ] }, { "title": "COX-2 activation is associated with Akt phosphorylation and poor survival in ER-negative, HER2-positive breast cancer.", "journal": "BMC cancer", "date": "2010", "authors": "Glynn SA, Prueitt RL, Ridnour LA, Boersma BJ, Dorsey TM, Wink DA, Goodman JE, Yfantis HG, Lee DH, Ambs S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21078168", "url": "https://glygen.org/publication/PubMed/21078168" } ] }, { "title": "The Akt-inhibitor Erufosine induces apoptotic cell death in prostate cancer cells and increases the short term effects of ionizing radiation.", "journal": "Radiation oncology (London, England)", "date": "2010", "authors": "Rudner J, Ruiner CE, Handrick R, Eibl HJ, Belka C, Jendrossek V", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21080918", "url": "https://glygen.org/publication/PubMed/21080918" } ] }, { "title": "Caffeine induces apoptosis by enhancement of autophagy via PI3K/Akt/mTOR/p70S6K inhibition.", "journal": "Autophagy", "date": "2011", "authors": "Saiki S, Sasazawa Y, Imamichi Y, Kawajiri S, Fujimaki T, Tanida I, Kobayashi H, Sato F, Sato S, Ishikawa K, Imoto M, Hattori N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21081844", "url": "https://glygen.org/publication/PubMed/21081844" } ] }, { "title": "Akt and PKC are involved not only in upregulation of telomerase activity but also in cell differentiation-related function via mTORC2 in leukemia cells.", "journal": "Histochemistry and cell biology", "date": "2010", "authors": "Yamada O, Ozaki K, Nakatake M, Kakiuchi Y, Akiyama M, Mitsuishi T, Kawauchi K, Matsuoka R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21086135", "url": "https://glygen.org/publication/PubMed/21086135" } ] }, { "title": "Early endosomal antigen 1 (EEA1) is an obligate scaffold for angiotensin II-induced, PKC-alpha-dependent Akt activation in endosomes.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Nazarewicz RR, Salazar G, Patrushev N, San Martin A, Hilenski L, Xiong S, Alexander RW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21097843", "url": "https://glygen.org/publication/PubMed/21097843" } ] }, { "title": "Phosphatidylinositol-3'-kinase/AKT signaling is essential in synovial sarcoma.", "journal": "International journal of cancer", "date": "2011", "authors": "Friedrichs N, Trautmann M, Endl E, Sievers E, Kindler D, Wurst P, Czerwitzki J, Steiner S, Renner M, Penzel R, Koch A, Larsson O, Tanaka S, Kawai A, Schirmacher P, Mechtersheimer G, Wardelmann E, Buettner R, Hartmann W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21128248", "url": "https://glygen.org/publication/PubMed/21128248" } ] }, { "title": "Amino acids activate mammalian target of rapamycin complex 2 (mTORC2) via PI3K/Akt signaling.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Tato I, Bartrons R, Ventura F, Rosa JL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21131356", "url": "https://glygen.org/publication/PubMed/21131356" } ] }, { "title": "Elevated AKR1C3 expression promotes prostate cancer cell survival and prostate cell-mediated endothelial cell tube formation: implications for prostate cancer progression.", "journal": "BMC cancer", "date": "2010-12-06", "authors": "Dozmorov Mikhail G, Azzarello Joseph T, Wren Jonathan D, Fung Kar-Ming, Yang Qing, Davis Jeffrey S, Hurst Robert E, Culkin Daniel J, Penning Trevor M, Lin Hsueh-Kung", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21134280", "url": "https://glygen.org/publication/PubMed/21134280" } ] }, { "title": "Peroxisome proliferator-activated receptor gamma ligand-mediated apoptosis of hepatocellular carcinoma cells depends upon modulation of PI3Kinase pathway independent of Akt.", "journal": "Journal of molecular signaling", "date": "2010", "authors": "Mishra P, Paramasivam SK, Thylur RP, Rana A, Rana B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21144036", "url": "https://glygen.org/publication/PubMed/21144036" } ] }, { "title": "Nuclear factor of activated T cells (NFAT) signaling regulates PTEN expression and intestinal cell differentiation.", "journal": "Molecular biology of the cell", "date": "2011", "authors": "Wang Q, Zhou Y, Jackson LN, Johnson SM, Chow CW, Evers BM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21148296", "url": "https://glygen.org/publication/PubMed/21148296" } ] }, { "title": "Multiple roles for the non-coding RNA SRA in regulation of adipogenesis and insulin sensitivity.", "journal": "PloS one", "date": "2010", "authors": "Xu B, Gerin I, Miao H, Vu-Phan D, Johnson CN, Xu R, Chen XW, Cawthorn WP, MacDougald OA, Koenig RJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21152033", "url": "https://glygen.org/publication/PubMed/21152033" } ] }, { "title": "A new cytosolic pathway from a Parkinson disease-associated kinase, BRPK/PINK1: activation of AKT via mTORC2.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Murata H, Sakaguchi M, Jin Y, Sakaguchi Y, Futami J, Yamada H, Kataoka K, Huh NH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21177249", "url": "https://glygen.org/publication/PubMed/21177249" } ] }, { "title": "Failure of the adipocytokine, resistin, to protect the heart from ischemia-reperfusion injury.", "journal": "Journal of cardiovascular pharmacology and therapeutics", "date": "2011-03", "authors": "Smith Christopher C T, Lim Shiang Y, Wynne Abigail M, Sivaraman Vivek, Davidson Sean M, Mocanu Mihaela M, Hausenloy Derek J, Yellon Derek M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21183727", "url": "https://glygen.org/publication/PubMed/21183727" } ] }, { "title": "Human articular chondrocytes express ChemR23 and chemerin; ChemR23 promotes inflammatory signalling upon binding the ligand chemerin(21-157).", "journal": "Arthritis research & therapy", "date": "2010", "authors": "Berg V, Sveinbjornsson B, Bendiksen S, Brox J, Meknas K, Figenschau Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21192818", "url": "https://glygen.org/publication/PubMed/21192818" } ] }, { "title": "Chronic heart failure reduces Akt phosphorylation in human skeletal muscle: relationship to muscle size and function.", "journal": "Journal of applied physiology (Bethesda, Md. : 1985)", "date": "2011", "authors": "Toth MJ, Ward K, van der Velden J, Miller MS, Vanburen P, Lewinter MM, Ades PA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21193562", "url": "https://glygen.org/publication/PubMed/21193562" } ] }, { "title": "Phosphorylation of Rictor at Thr1135 impairs the Rictor/Cullin-1 complex to ubiquitinate SGK1.", "journal": "Protein & cell", "date": "2010", "authors": "Gao D, Wan L, Wei W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21204013", "url": "https://glygen.org/publication/PubMed/21204013" } ] }, { "title": "1, 9-Pyrazoloanthrones downregulate HIF-1\u03b1 and sensitize cancer cells to cetuximab-mediated anti-EGFR therapy.", "journal": "PloS one", "date": "2010-12-29", "authors": "Lu Yang, Li Xinqun, Lu Haiquan, Fan Zhen", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21209911", "url": "https://glygen.org/publication/PubMed/21209911" } ] }, { "title": "Dimethylarginine dimethylaminohydrolase 1 modulates endothelial cell growth through nitric oxide and Akt.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2011", "authors": "Zhang P, Hu X, Xu X, Chen Y, Bache RJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21212404", "url": "https://glygen.org/publication/PubMed/21212404" } ] }, { "title": "Protective effect of H2O2 against subsequent H2O2-induced cytotoxicity involves activation of the PI3K-Akt signaling pathway.", "journal": "Cellular and molecular biology (Noisy-le-Grand, France)", "date": "2010", "authors": "Nishimoto T, Matsumoto A, Kihara T, Akaike A, Sugimoto H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21215240", "url": "https://glygen.org/publication/PubMed/21215240" } ] }, { "title": "PPAR-gamma ligands repress TGFbeta-induced myofibroblast differentiation by targeting the PI3K/Akt pathway: implications for therapy of fibrosis.", "journal": "PloS one", "date": "2011", "authors": "Kulkarni AA, Thatcher TH, Olsen KC, Maggirwar SB, Phipps RP, Sime PJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21253589", "url": "https://glygen.org/publication/PubMed/21253589" } ] }, { "title": "A unique spectrum of somatic PIK3CA (p110alpha) mutations within primary endometrial carcinomas.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2011-03-15", "authors": "Rudd Meghan L, Price Jessica C, Fogoros Sarah, Godwin Andrew K, Sgroi Dennis C, Merino Maria J, Bell Daphne W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21266528", "url": "https://glygen.org/publication/PubMed/21266528" } ] }, { "title": "PI3K inhibition results in enhanced HER signaling and acquired ERK dependency in HER2-overexpressing breast cancer.", "journal": "Oncogene", "date": "2011", "authors": "Serra V, Scaltriti M, Prudkin L, Eichhorn PJ, Ibrahim YH, Chandarlapaty S, Markman B, Rodriguez O, Guzman M, Rodriguez S, Gili M, Russillo M, Parra JL, Singh S, Arribas J, Rosen N, Baselga J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21278786", "url": "https://glygen.org/publication/PubMed/21278786" } ] }, { "title": "Lkb1 and Pten synergise to suppress mTOR-mediated tumorigenesis and epithelial-mesenchymal transition in the mouse bladder.", "journal": "PloS one", "date": "2011", "authors": "Shorning BY, Griffiths D, Clarke AR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21283818", "url": "https://glygen.org/publication/PubMed/21283818" } ] }, { "title": "Regulation of CD1, Ki-67, PCNA mRNA expression, and Akt activation in estrogen-responsive human breast adenocarcinoma cell line, MCF-7 cells, by griffonianone C, an isoflavone derived from Millettia griffoniana.", "journal": "Pharmaceutical biology", "date": "2011", "authors": "Magloire Ketcha Wanda GJ, Njamen D, Tagatsing FM, Yankep E, Vollmer G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21284537", "url": "https://glygen.org/publication/PubMed/21284537" } ] }, { "title": "Protein S blocks the extrinsic apoptotic cascade in tissue plasminogen activator/N-methyl D-aspartate-treated neurons via Tyro3-Akt-FKHRL1 signaling pathway.", "journal": "Molecular neurodegeneration", "date": "2011", "authors": "Guo H, Barrett TM, Zhong Z, Fernandez JA, Griffin JH, Freeman RS, Zlokovic BV", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21291561", "url": "https://glygen.org/publication/PubMed/21291561" } ] }, { "title": "Akt/GSK3beta signaling is involved in fipronil-induced apoptotic cell death of human neuroblastoma SH-SY5Y cells.", "journal": "Toxicology letters", "date": "2011", "authors": "Lee JE, Kang JS, Ki YW, Lee SH, Lee SJ, Lee KS, Koh HC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21296133", "url": "https://glygen.org/publication/PubMed/21296133" } ] }, { "title": "Sildenafil reduces insulin-resistance in human endothelial cells.", "journal": "PloS one", "date": "2011", "authors": "Mammi C, Pastore D, Lombardo MF, Ferrelli F, Caprio M, Consoli C, Tesauro M, Gatta L, Fini M, Federici M, Sbraccia P, Donadel G, Bellia A, Rosano GM, Fabbri A, Lauro D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21297971", "url": "https://glygen.org/publication/PubMed/21297971" } ] }, { "title": "Early activation of mTORC1 signalling in response to mechanical overload is independent of phosphoinositide 3-kinase/Akt signalling.", "journal": "The Journal of physiology", "date": "2011", "authors": "Miyazaki M, McCarthy JJ, Fedele MJ, Esser KA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21300751", "url": "https://glygen.org/publication/PubMed/21300751" } ] }, { "title": "Effect of hyperglycemia on human monocyte activation.", "journal": "Journal of investigative medicine : the official publication of the American Federation for Clinical Research", "date": "2011-04", "authors": "Nandy Debashis, Janardhanan Rajiv, Mukhopadhyay Debabrata, Basu Ananda", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21307779", "url": "https://glygen.org/publication/PubMed/21307779" } ] }, { "title": "Activation of PI3 kinase/Akt signaling in chronic subdural hematoma outer membranes.", "journal": "Journal of neurotrauma", "date": "2011", "authors": "Funai M, Osuka K, Usuda N, Atsuzawa K, Inukai T, Yasuda M, Watanabe Y, Takayasu M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21309701", "url": "https://glygen.org/publication/PubMed/21309701" } ] }, { "title": "Evidence for direct activation of mTORC2 kinase activity by phosphatidylinositol 3,4,5-trisphosphate.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Gan X, Wang J, Su B, Wu D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21310961", "url": "https://glygen.org/publication/PubMed/21310961" } ] }, { "title": "mTOR complex 2 targets Akt for proteasomal degradation via phosphorylation at the hydrophobic motif.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Wu YT, Ouyang W, Lazorchak AS, Liu D, Shen HM, Su B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21321111", "url": "https://glygen.org/publication/PubMed/21321111" } ] }, { "title": "Modification of Akt1 by methylglyoxal promotes the proliferation of vascular smooth muscle cells.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2011", "authors": "Chang T, Wang R, Olson DJ, Mousseau DD, Ross AR, Wu L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21321187", "url": "https://glygen.org/publication/PubMed/21321187" } ] }, { "title": "Loss of desmocollin-2 confers a tumorigenic phenotype to colonic epithelial cells through activation of Akt/beta-catenin signaling.", "journal": "Molecular biology of the cell", "date": "2011", "authors": "Kolegraff K, Nava P, Helms MN, Parkos CA, Nusrat A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21325624", "url": "https://glygen.org/publication/PubMed/21325624" } ] }, { "title": "Constitutive activation with overexpression of the mTORC2-phospholipase D1 pathway in uterine leiomyosarcoma and STUMP: morphoproteomic analysis with therapeutic implications.", "journal": "International journal of clinical and experimental pathology", "date": "2010-01-28", "authors": "Dhingra Sadhna, Rodriguez Michelle E, Shen Qi, Duan Xuizhen, Stanton Melissa L, Chen Lei, Zhang Rongzhen, Brown Robert E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21326806", "url": "https://glygen.org/publication/PubMed/21326806" } ] }, { "title": "Invasiveness and anchorage independent growth ability augmented by PTEN inactivation through the PI3K/AKT/NFkB pathway in lung cancer cells.", "journal": "Lung cancer (Amsterdam, Netherlands)", "date": "2011", "authors": "Akca H, Demiray A, Tokgun O, Yokota J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21333374", "url": "https://glygen.org/publication/PubMed/21333374" } ] }, { "title": "Serum interferon alpha receptor 2 mRNA may predict efficacy of interferon alpha with/without low-dose sorafenib for metastatic clear cell renal cell carcinoma.", "journal": "Cancer immunology, immunotherapy : CII", "date": "2011", "authors": "Furuya N, Kamai T, Shirataki H, Yanai Y, Fukuda T, Mizuno T, Nakamura F, Kambara T, Nakanishi K, Abe H, Yoshida K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21350947", "url": "https://glygen.org/publication/PubMed/21350947" } ] }, { "title": "The anti-apoptotic function of human alphaA-crystallin is directly related to its chaperone activity.", "journal": "Cell death & disease", "date": "2010", "authors": "Pasupuleti N, Matsuyama S, Voss O, Doseff AI, Song K, Danielpour D, Nagaraj RH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21364639", "url": "https://glygen.org/publication/PubMed/21364639" } ] }, { "title": "Prolonged inorganic arsenite exposure suppresses insulin-stimulated AKT S473 phosphorylation and glucose uptake in 3T3-L1 adipocytes: involvement of the adaptive antioxidant response.", "journal": "Biochemical and biophysical research communications", "date": "2011-04-08", "authors": "Xue Peng, Hou Yongyong, Zhang Qiang, Woods Courtney G, Yarborough Kathy, Liu Huiyu, Sun Guifan, Andersen Melvin E, Pi Jingbo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21396911", "url": "https://glygen.org/publication/PubMed/21396911" } ] }, { "title": "Phosphatidylserine is a critical modulator for Akt activation.", "journal": "The Journal of cell biology", "date": "2011", "authors": "Huang BX, Akbar M, Kevala K, Kim HY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21402788", "url": "https://glygen.org/publication/PubMed/21402788" } ] }, { "title": "Phosphatase and tensin homolog deleted on chromosome 10 (PTEN) inhibition by 4-hydroxynonenal leads to increased Akt activation in hepatocytes.", "journal": "Molecular pharmacology", "date": "2011", "authors": "Shearn CT, Smathers RL, Stewart BJ, Fritz KS, Galligan JJ, Hail N Jr, Petersen DR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21415306", "url": "https://glygen.org/publication/PubMed/21415306" } ] }, { "title": "Phosphorylated AKT expression is associated with PIK3CA mutation, low stage, and favorable outcome in 717 colorectal cancers.", "journal": "Cancer", "date": "2011", "authors": "Baba Y, Nosho K, Shima K, Hayashi M, Meyerhardt JA, Chan AT, Giovannucci E, Fuchs CS, Ogino S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21425139", "url": "https://glygen.org/publication/PubMed/21425139" } ] }, { "title": "Protein anabolic responses to a fed steady state in healthy aging.", "journal": "The journals of gerontology. Series A, Biological sciences and medical sciences", "date": "2011", "authors": "Chevalier S, Goulet ED, Burgos SA, Wykes LJ, Morais JA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21436253", "url": "https://glygen.org/publication/PubMed/21436253" } ] }, { "title": "Hyperaminoacidaemia at postprandial levels does not modulate glucose metabolism in type 2 diabetes mellitus.", "journal": "Diabetologia", "date": "2011", "authors": "Bassil M, Burgos S, Marliss EB, Morais JA, Chevalier S, Gougeon R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21437771", "url": "https://glygen.org/publication/PubMed/21437771" } ] }, { "title": "Regulation of AKT phosphorylation at Ser473 and Thr308 by endoplasmic reticulum stress modulates substrate specificity in a severity dependent manner.", "journal": "PloS one", "date": "2011", "authors": "Yung HW, Charnock-Jones DS, Burton GJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21445305", "url": "https://glygen.org/publication/PubMed/21445305" } ] }, { "title": "Regulation of beta-catenin by t-DARPP in upper gastrointestinal cancer cells.", "journal": "Molecular cancer", "date": "2011", "authors": "Vangamudi B, Zhu S, Soutto M, Belkhiri A, El-Rifai W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21447180", "url": "https://glygen.org/publication/PubMed/21447180" } ] }, { "title": "Increased levels of the Akt-specific phosphatase PH domain leucine-rich repeat protein phosphatase (PHLPP)-1 in obese participants are associated with insulin resistance.", "journal": "Diabetologia", "date": "2011", "authors": "Andreozzi F, Procopio C, Greco A, Mannino GC, Miele C, Raciti GA, Iadicicco C, Beguinot F, Pontiroli AE, Hribal ML, Folli F, Sesti G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21461637", "url": "https://glygen.org/publication/PubMed/21461637" } ] }, { "title": "Antiproliferative effects of novel aliphatic acetogenin analogs against aggressive solid tumor cell lines.", "journal": "In vivo (Athens, Greece)", "date": "2011", "authors": "Leon LG, Giovannetti E, Alecci C, Giancola F, Funel N, Zucali P, Peters GJ, Padron JM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21471536", "url": "https://glygen.org/publication/PubMed/21471536" } ] }, { "title": "Phenethyl isothiocyanate exhibits antileukemic activity in vitro and in vivo by inactivation of Akt and activation of JNK pathways.", "journal": "Cell death & disease", "date": "2011", "authors": "Gao N, Budhraja A, Cheng S, Liu EH, Chen J, Yang Z, Chen D, Zhang Z, Shi X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21472003", "url": "https://glygen.org/publication/PubMed/21472003" } ] }, { "title": "Cell-type-specific regulation of raft-associated Akt signaling.", "journal": "Cell death & disease", "date": "2011-04-14", "authors": "Liu Y, Yang G, Bu X, Liu G, Ding J, Li P, Jia W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21490677", "url": "https://glygen.org/publication/PubMed/21490677" } ] }, { "title": "The alkylphospholipid, perifosine, radiosensitizes prostate cancer cells both in vitro and in vivo.", "journal": "Radiation oncology (London, England)", "date": "2011", "authors": "Gao Y, Ishiyama H, Sun M, Brinkman KL, Wang X, Zhu J, Mai W, Huang Y, Floryk D, Ittmann M, Thompson TC, Butler EB, Xu B, Teh BS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21496273", "url": "https://glygen.org/publication/PubMed/21496273" } ] }, { "title": "Phosphoproteomic mass spectrometry profiling links Src family kinases to escape from HER2 tyrosine kinase inhibition.", "journal": "Oncogene", "date": "2011", "authors": "Rexer BN, Ham AJ, Rinehart C, Hill S, Granja-Ingram Nde M, Gonzalez-Angulo AM, Mills GB, Dave B, Chang JC, Liebler DC, Arteaga CL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21499296", "url": "https://glygen.org/publication/PubMed/21499296" } ] }, { "title": "Akt phosphorylation on Thr308 but not on Ser473 correlates with Akt protein kinase activity in human non-small cell lung cancer.", "journal": "British journal of cancer", "date": "2011", "authors": "Vincent EE, Elder DJ, Thomas EC, Phillips L, Morgan C, Pawade J, Sohail M, May MT, Hetzel MR, Tavare JM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21505451", "url": "https://glygen.org/publication/PubMed/21505451" } ] }, { "title": "Thymosin-beta4 (Tbeta4) blunts PDGF-dependent phosphorylation and binding of AKT to actin in hepatic stellate cells.", "journal": "The American journal of pathology", "date": "2011", "authors": "Reyes-Gordillo K, Shah R, Popratiloff A, Fu S, Hindle A, Brody F, Rojkind M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21514425", "url": "https://glygen.org/publication/PubMed/21514425" } ] }, { "title": "Reciprocal interference between insulin and interferon-alpha signaling in hepatic cells: a vicious circle of clinical significance?", "journal": "Hepatology (Baltimore, Md.)", "date": "2011", "authors": "Franceschini L, Realdon S, Marcolongo M, Mirandola S, Bortoletto G, Alberti A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21538438", "url": "https://glygen.org/publication/PubMed/21538438" } ] }, { "title": "Insulin and GH signaling in human skeletal muscle in vivo following exogenous GH exposure: impact of an oral glucose load.", "journal": "PloS one", "date": "2011-05-03", "authors": "Krusenstjerna-Hafstr\u00f8m Thomas, Madsen Michael, Vendelbo Mikkel H, Pedersen Steen B, Christiansen Jens S, M\u00f8ller Niels, Jessen Niels, J\u00f8rgensen Jens O L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21559284", "url": "https://glygen.org/publication/PubMed/21559284" } ] }, { "title": "New algorithm to determine true colocalization in combination with image restoration and time-lapse confocal microscopy to MAP kinases in mitochondria.", "journal": "PloS one", "date": "2011", "authors": "Villalta JI, Galli S, Iacaruso MF, Antico Arciuch VG, Poderoso JJ, Jares-Erijman EA, Pietrasanta LI", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21559502", "url": "https://glygen.org/publication/PubMed/21559502" } ] }, { "title": "Inhibition of mitotic kinase Aurora suppresses Akt-1 activation and induces apoptotic cell death in all-trans retinoid acid-resistant acute promyelocytic leukemia cells.", "journal": "Journal of translational medicine", "date": "2011", "authors": "Xu DR, Huang S, Long ZJ, Chen JJ, Zou ZZ, Li J, Lin DJ, Liu Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21600017", "url": "https://glygen.org/publication/PubMed/21600017" } ] }, { "title": "Downregulation of cPLA2gamma expression inhibits EGF-induced chemotaxis of human breast cancer cells through Akt pathway.", "journal": "Biochemical and biophysical research communications", "date": "2011", "authors": "Tian G, Wang X, Zhang F, Geng H, Hou W, Chen L, Guo H, Zhang N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21600875", "url": "https://glygen.org/publication/PubMed/21600875" } ] }, { "title": "Significance of thymosin beta4 and implication of PINCH-1-ILK-alpha-parvin (PIP) complex in human dilated cardiomyopathy.", "journal": "PloS one", "date": "2011", "authors": "Sopko N, Qin Y, Finan A, Dadabayev A, Chigurupati S, Qin J, Penn MS, Gupta S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21625516", "url": "https://glygen.org/publication/PubMed/21625516" } ] }, { "title": "Sphingosine kinase 1 regulates the Akt/FOXO3a/Bim pathway and contributes to apoptosis resistance in glioma cells.", "journal": "PloS one", "date": "2011", "authors": "Guan H, Song L, Cai J, Huang Y, Wu J, Yuan J, Li J, Li M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21625639", "url": "https://glygen.org/publication/PubMed/21625639" } ] }, { "title": "Evaluating rational non-cross-resistant combination therapy in advanced clear cell renal cell carcinoma: combined mTOR and AKT inhibitor therapy.", "journal": "Cancer chemotherapy and pharmacology", "date": "2012", "authors": "Holland WS, Tepper CG, Pietri JE, Chinn DC, Gandara DR, Mack PC, Lara PN Jr", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21644050", "url": "https://glygen.org/publication/PubMed/21644050" } ] }, { "title": "Long-term continuous corticosterone treatment decreases VEGF receptor-2 expression in frontal cortex.", "journal": "PloS one", "date": "2011", "authors": "Howell Kristy R, Kutiyanawalla Ammar, Pillai Anilkumar", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21647420", "url": "https://glygen.org/publication/PubMed/21647420" } ] }, { "title": "BIM-mediated AKT phosphorylation is a key modulator of arsenic trioxide-induced apoptosis in cisplatin-sensitive and -resistant ovarian cancer cells.", "journal": "PloS one", "date": "2011", "authors": "Yuan Z, Wang F, Zhao Z, Zhao X, Qiu J, Nie C, Wei Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21655183", "url": "https://glygen.org/publication/PubMed/21655183" } ] }, { "title": "Low expression of PP2A regulatory subunit B55alpha is associated with T308 phosphorylation of AKT and shorter complete remission duration in acute myeloid leukemia patients.", "journal": "Leukemia", "date": "2011", "authors": "Ruvolo PP, Qui YH, Coombes KR, Zhang N, Ruvolo VR, Borthakur G, Konopleva M, Andreeff M, Kornblau SM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21660042", "url": "https://glygen.org/publication/PubMed/21660042" } ] }, { "title": "Kinome siRNA-phosphoproteomic screen identifies networks regulating AKT signaling.", "journal": "Oncogene", "date": "2011", "authors": "Lu Y, Muller M, Smith D, Dutta B, Komurov K, Iadevaia S, Ruths D, Tseng JT, Yu S, Yu Q, Nakhleh L, Balazsi G, Donnelly J, Schurdak M, Morgan-Lappe S, Fesik S, Ram PT, Mills GB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21666717", "url": "https://glygen.org/publication/PubMed/21666717" } ] }, { "title": "A drug targeting only p110alpha can block phosphoinositide 3-kinase signalling and tumour growth in certain cell types.", "journal": "The Biochemical journal", "date": "2011", "authors": "Jamieson S, Flanagan JU, Kolekar S, Buchanan C, Kendall JD, Lee WJ, Rewcastle GW, Denny WA, Singh R, Dickson J, Baguley BC, Shepherd PR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21668414", "url": "https://glygen.org/publication/PubMed/21668414" } ] }, { "title": "Rapamycin-induced hypophosphatemia and insulin resistance are associated with mTORC2 activation and Klotho expression.", "journal": "American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons", "date": "2011", "authors": "Tataranni T, Biondi G, Cariello M, Mangino M, Colucci G, Rutigliano M, Ditonno P, Schena FP, Gesualdo L, Grandaliano G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21672148", "url": "https://glygen.org/publication/PubMed/21672148" } ] }, { "title": "Nuclear and cytoplasmic LIMK1 enhances human breast cancer progression.", "journal": "Molecular cancer", "date": "2011", "authors": "McConnell BV, Koto K, Gutierrez-Hartmann A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21682918", "url": "https://glygen.org/publication/PubMed/21682918" } ] }, { "title": "Knockdown of MTDH sensitizes endometrial cancer cells to cell death induction by death receptor ligand TRAIL and HDAC inhibitor LBH589 co-treatment.", "journal": "PloS one", "date": "2011", "authors": "Meng Xiangbing, Brachova Pavla, Yang Shujie, Xiong Zhi, Zhang Yuping, Thiel Kristina W, Leslie Kimberly K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21687633", "url": "https://glygen.org/publication/PubMed/21687633" } ] }, { "title": "ER stress induces anabolic resistance in muscle cells through PKB-induced blockade of mTORC1.", "journal": "PloS one", "date": "2011", "authors": "Deldicque L, Bertrand L, Patton A, Francaux M, Baar K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21698202", "url": "https://glygen.org/publication/PubMed/21698202" } ] }, { "title": "Postprandial triglyceride-rich lipoproteins induce hepatic insulin resistance in HepG2 cells independently of their receptor-mediated cellular uptake.", "journal": "Molecular and cellular endocrinology", "date": "2011-08-22", "authors": "Tatarczyk Tobias, Ciardi Christian, Niederwanger Andreas, Kranebitter Michael, Patsch Josef R, Pedrini Michael T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21704120", "url": "https://glygen.org/publication/PubMed/21704120" } ] }, { "title": "Survival advantages conferred to colon cancer cells by E-selectin-induced activation of the PI3K-NFkappaB survival axis downstream of Death receptor-3.", "journal": "BMC cancer", "date": "2011", "authors": "Porquet N, Poirier A, Houle F, Pin AL, Gout S, Tremblay PL, Paquet ER, Klinck R, Auger FA, Huot J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21722370", "url": "https://glygen.org/publication/PubMed/21722370" } ] }, { "title": "Function of erbB receptors and DNA-PKcs on phosphorylation of cytoplasmic and nuclear Akt at S473 induced by erbB1 ligand and ionizing radiation.", "journal": "Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology", "date": "2011-10", "authors": "Toulany Mahmoud, Schickfluss Tim-Andre, Fattah Kazi R, Lee Kyung-Jong, Chen Benjamin P C, Fehrenbacher Birgit, Schaller Martin, Chen David J, Rodemann H Peter", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21723633", "url": "https://glygen.org/publication/PubMed/21723633" } ] }, { "title": "AKT signalling in the failing heart.", "journal": "European journal of heart failure", "date": "2011", "authors": "Chaanine AH, Hajjar RJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21724622", "url": "https://glygen.org/publication/PubMed/21724622" } ] }, { "title": "DARPP-32 increases interactions between epidermal growth factor receptor and ERBB3 to promote tumor resistance to gefitinib.", "journal": "Gastroenterology", "date": "2011", "authors": "Zhu S, Belkhiri A, El-Rifai W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21741919", "url": "https://glygen.org/publication/PubMed/21741919" } ] }, { "title": "Tenascin-C enhances pancreatic cancer cell growth and motility and affects cell adhesion through activation of the integrin pathway.", "journal": "PloS one", "date": "2011", "authors": "Paron Igor, Berchtold Sonja, V\u00f6r\u00f6s Julia, Shamarla Madhavi, Erkan Mert, H\u00f6fler Heinz, Esposito Irene", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21747918", "url": "https://glygen.org/publication/PubMed/21747918" } ] }, { "title": "Matrix-dependent regulation of AKT in Hepsin-overexpressing PC3 prostate cancer cells.", "journal": "Neoplasia (New York, N.Y.)", "date": "2011", "authors": "Wittig-Blaich SM, Kacprzyk LA, Eismann T, Bewerunge-Hudler M, Kruse P, Winkler E, Strauss WS, Hibst R, Steiner R, Schrader M, Mertens D, Sultmann H, Wittig R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21750652", "url": "https://glygen.org/publication/PubMed/21750652" } ] }, { "title": "Effect of a chronic treatment with 17beta-estradiol on striatal dopamine neurotransmission and the Akt/GSK3 signaling pathway in the brain of ovariectomized monkeys.", "journal": "Psychoneuroendocrinology", "date": "2012", "authors": "Sanchez MG, Morissette M, Di Paolo T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21763075", "url": "https://glygen.org/publication/PubMed/21763075" } ] }, { "title": "cAMP inhibits mammalian target of rapamycin complex-1 and -2 (mTORC1 and 2) by promoting complex dissociation and inhibiting mTOR kinase activity.", "journal": "Cellular signalling", "date": "2011", "authors": "Xie J, Ponuwei GA, Moore CE, Willars GB, Tee AR, Herbert TP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21763421", "url": "https://glygen.org/publication/PubMed/21763421" } ] }, { "title": "Akt phosphorylation at Thr308 and Ser473 is required for CHIP-mediated ubiquitination of the kinase.", "journal": "Cellular signalling", "date": "2011", "authors": "Su CH, Wang CY, Lan KH, Li CP, Chao Y, Lin HC, Lee SD, Lee WP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21767636", "url": "https://glygen.org/publication/PubMed/21767636" } ] }, { "title": "Acute laminar shear stress reversibly increases human glomerular endothelial cell permeability via activation of endothelial nitric oxide synthase.", "journal": "American journal of physiology. Renal physiology", "date": "2011", "authors": "Bevan HS, Slater SC, Clarke H, Cahill PA, Mathieson PW, Welsh GI, Satchell SC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21775480", "url": "https://glygen.org/publication/PubMed/21775480" } ] }, { "title": "Dysregulated \u0394Np63\u03b1 inhibits expression of Ink4a/arf, blocks senescence, and promotes malignant conversion of keratinocytes.", "journal": "PloS one", "date": "2011", "authors": "Ha Linan, Ponnamperuma Roshini M, Jay Steven, Ricci M Stacey, Weinberg Wendy C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21789189", "url": "https://glygen.org/publication/PubMed/21789189" } ] }, { "title": "The tumor suppressive microRNA miR-218 targets the mTOR component Rictor and inhibits AKT phosphorylation in oral cancer.", "journal": "Cancer research", "date": "2011-09-01", "authors": "Uesugi Atsushi, Kozaki Ken-Ichi, Tsuruta Tomohiko, Furuta Mayuko, Morita Kei-Ichi, Imoto Issei, Omura Ken, Inazawa Johji", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21795477", "url": "https://glygen.org/publication/PubMed/21795477" } ] }, { "title": "Novel library of selenocompounds as kinase modulators.", "journal": "Molecules (Basel, Switzerland)", "date": "2011-07-27", "authors": "Plano Daniel, Ib\u00e1\u00f1ez Elena, Calvo Alfonso, Palop Juan Antonio, Sanmart\u00edn Carmen", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21796074", "url": "https://glygen.org/publication/PubMed/21796074" } ] }, { "title": "GILZ inhibits the mTORC2/AKT pathway in BCR-ABL(+) cells.", "journal": "Oncogene", "date": "2012", "authors": "Joha S, Nugues AL, Hetuin D, Berthon C, Dezitter X, Dauphin V, Mahon FX, Roche-Lestienne C, Preudhomme C, Quesnel B, Idziorek T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21804606", "url": "https://glygen.org/publication/PubMed/21804606" } ] }, { "title": "Urban particulate matter activates Akt in human lung cells.", "journal": "Archives of toxicology", "date": "2012", "authors": "Watterson TL, Hamilton B, Martin RS, Coulombe RA Jr", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21818627", "url": "https://glygen.org/publication/PubMed/21818627" } ] }, { "title": "PARP1 inhibitors attenuate AKT phosphorylation via the upregulation of PHLPP1.", "journal": "Biochemical and biophysical research communications", "date": "2011", "authors": "Wang S, Wang H, Davis BC, Liang J, Cui R, Chen SJ, Xu ZX", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21821012", "url": "https://glygen.org/publication/PubMed/21821012" } ] }, { "title": "Activation of Akt/GSK3beta and Akt/Bcl-2 signaling pathways in nickel-transformed BEAS-2B cells.", "journal": "International journal of oncology", "date": "2011", "authors": "Pan JJ, Chang QS, Wang X, Son YO, Liu J, Zhang Z, Bi YY, Shi X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21837363", "url": "https://glygen.org/publication/PubMed/21837363" } ] }, { "title": "Antroquinonol, a natural ubiquinone derivative, induces a cross talk between apoptosis, autophagy and senescence in human pancreatic carcinoma cells.", "journal": "The Journal of nutritional biochemistry", "date": "2012", "authors": "Yu CC, Chiang PC, Lu PH, Kuo MT, Wen WC, Chen P, Guh JH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21840189", "url": "https://glygen.org/publication/PubMed/21840189" } ] }, { "title": "Phosphatidylinositol 3'-kinase, mTOR, and glycogen synthase kinase-3beta mediated regulation of p21 in human urothelial carcinoma cells.", "journal": "BMC urology", "date": "2011", "authors": "Yohn NL, Bingaman CN, DuMont AL, Yoo LI", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21864408", "url": "https://glygen.org/publication/PubMed/21864408" } ] }, { "title": "Endoplasmic reticulum is a main localization site of mTORC2.", "journal": "Biochemical and biophysical research communications", "date": "2011", "authors": "Boulbes DR, Shaiken T, Sarbassov dos D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21867682", "url": "https://glygen.org/publication/PubMed/21867682" } ] }, { "title": "The functions of mTOR in ischemic diseases.", "journal": "BMB reports", "date": "2011", "authors": "Hwang SK, Kim HH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21871173", "url": "https://glygen.org/publication/PubMed/21871173" } ] }, { "title": "Insulin rapidly stimulates L-arginine transport in human aortic endothelial cells via Akt.", "journal": "Biochemical and biophysical research communications", "date": "2011", "authors": "Kohlhaas CF, Morrow VA, Jhakra N, Patil V, Connell JM, Petrie JR, Salt IP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21871446", "url": "https://glygen.org/publication/PubMed/21871446" } ] }, { "title": "Oncogenic YAP promotes radioresistance and genomic instability in medulloblastoma through IGF2-mediated Akt activation.", "journal": "Oncogene", "date": "2012", "authors": "Fernandez-L A, Squatrito M, Northcott P, Awan A, Holland EC, Taylor MD, Nahle Z, Kenney AM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21874045", "url": "https://glygen.org/publication/PubMed/21874045" } ] }, { "title": "Critical role of PI3K/Akt/GSK3beta in motoneuron specification from human neural stem cells in response to FGF2 and EGF.", "journal": "PloS one", "date": "2011", "authors": "Ojeda L, Gao J, Hooten KG, Wang E, Thonhoff JR, Dunn TJ, Gao T, Wu P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21887250", "url": "https://glygen.org/publication/PubMed/21887250" } ] }, { "title": "Expression, localization, and phosphorylation of Akt1 in benign and malignant thyroid lesions.", "journal": "Endocrine pathology", "date": "2011", "authors": "Krzeslak A, Pomorski L, Lipinska A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21898122", "url": "https://glygen.org/publication/PubMed/21898122" } ] }, { "title": "Novel function of keratins 5 and 14 in proliferation and differentiation of stratified epithelial cells.", "journal": "Molecular biology of the cell", "date": "2011", "authors": "Alam H, Sehgal L, Kundu ST, Dalal SN, Vaidya MM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21900500", "url": "https://glygen.org/publication/PubMed/21900500" } ] }, { "title": "Knockdown of RON inhibits AP-1 activity and induces apoptosis and cell cycle arrest through the modulation of Akt/FoxO signaling in human colorectal cancer cells.", "journal": "Digestive diseases and sciences", "date": "2012", "authors": "Chung CY, Park YL, Song YA, Myung E, Kim KY, Lee GH, Ki HS, Park KJ, Cho SB, Lee WS, Jung YD, Kim KK, Joo YE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21901254", "url": "https://glygen.org/publication/PubMed/21901254" } ] }, { "title": "Induction of steroid sulfatase expression by tumor necrosis factor-alpha through phosphatidylinositol 3-kinase/Akt signaling pathway in PC-3 human prostate cancer cells.", "journal": "Experimental & molecular medicine", "date": "2011", "authors": "Suh BY, Jung JJ, Park N, Seong CH, Im HJ, Kwon Y, Kim D, Chun YJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21904110", "url": "https://glygen.org/publication/PubMed/21904110" } ] }, { "title": "Disruption of the interface between the pleckstrin homology (PH) and kinase domains of Akt protein is sufficient for hydrophobic motif site phosphorylation in the absence of mTORC2.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Warfel NA, Niederst M, Newton AC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21908613", "url": "https://glygen.org/publication/PubMed/21908613" } ] }, { "title": "Aquaporin-3 positively regulates matrix metalloproteinases via PI3K/AKT signal pathway in human gastric carcinoma SGC7901 cells.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2011-09-25", "authors": "Xu Hao, Xu Yong, Zhang Wenjie, Shen Lizong, Yang Li, Xu Zekuan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21943213", "url": "https://glygen.org/publication/PubMed/21943213" } ] }, { "title": "Chamaejasmine inactivates Akt to trigger apoptosis in human HEp-2 larynx carcinoma cells.", "journal": "Molecules (Basel, Switzerland)", "date": "2011", "authors": "Wang Y, Zhao Y, Liu Y, Tian L, Jin D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21952497", "url": "https://glygen.org/publication/PubMed/21952497" } ] }, { "title": "Mechanical regulation of glycogen synthase kinase 3beta (GSK3beta) in mesenchymal stem cells is dependent on Akt protein serine 473 phosphorylation via mTORC2 protein.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Case N, Thomas J, Sen B, Styner M, Xie Z, Galior K, Rubin J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21956113", "url": "https://glygen.org/publication/PubMed/21956113" } ] }, { "title": "Inhibition of PI3K prevents the proliferation and differentiation of human lung fibroblasts into myofibroblasts: the role of class I P110 isoforms.", "journal": "PloS one", "date": "2011", "authors": "Conte E, Fruciano M, Fagone E, Gili E, Caraci F, Iemmolo M, Crimi N, Vancheri C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21984893", "url": "https://glygen.org/publication/PubMed/21984893" } ] }, { "title": "Constitutive expression of insulin receptor substrate (IRS)-1 inhibits myogenic differentiation through nuclear exclusion of Foxo1 in L6 myoblasts.", "journal": "PloS one", "date": "2011", "authors": "Hakuno Fumihiko, Yamauchi Yoko, Kaneko Gen, Yoneyama Yosuke, Nakae Jun, Chida Kazuhiro, Kadowaki Tatsuhiko, Yamanouchi Keitaro, Nishihara Masugi, Takahashi Shin-Ichiro", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21991327", "url": "https://glygen.org/publication/PubMed/21991327" } ] }, { "title": "Upregulation of TRB2 induced by miR-98 in the early lesions of large artery of type-2 diabetic rat.", "journal": "Molecular and cellular biochemistry", "date": "2012", "authors": "Xie S, Xie N, Li Y, Wang P, Zhang C, Li Q, Liu X, Deng J, Zhang C, Lv C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22012613", "url": "https://glygen.org/publication/PubMed/22012613" } ] }, { "title": "Low androgen sensitivity is associated with low levels of Akt phosphorylation in LNCaP-E9 cells.", "journal": "Journal of andrology", "date": "2012", "authors": "Iguchi K, Fukami K, Ishii K, Otsuka T, Usui S, Sugimura Y, Hirano K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22016349", "url": "https://glygen.org/publication/PubMed/22016349" } ] }, { "title": "First-in-man clinical trial of the oral pan-AKT inhibitor MK-2206 in patients with advanced solid tumors.", "journal": "Journal of clinical oncology : official journal of the American Society of Clinical Oncology", "date": "2011", "authors": "Yap TA, Yan L, Patnaik A, Fearen I, Olmos D, Papadopoulos K, Baird RD, Delgado L, Taylor A, Lupinacci L, Riisnaes R, Pope LL, Heaton SP, Thomas G, Garrett MD, Sullivan DM, de Bono JS, Tolcher AW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5674400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5674400" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22025163", "url": "https://glygen.org/publication/PubMed/22025163" } ] }, { "title": "Resveratrol enhances prostate cancer cell response to ionizing radiation. Modulation of the AMPK, Akt and mTOR pathways.", "journal": "Radiation oncology (London, England)", "date": "2011", "authors": "Rashid A, Liu C, Sanli T, Tsiani E, Singh G, Bristow RG, Dayes I, Lukka H, Wright J, Tsakiridis T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22029423", "url": "https://glygen.org/publication/PubMed/22029423" } ] }, { "title": "A mechanism for synergy with combined mTOR and PI3 kinase inhibitors.", "journal": "PloS one", "date": "2011", "authors": "Yang S, Xiao X, Meng X, Leslie KK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22039466", "url": "https://glygen.org/publication/PubMed/22039466" } ] }, { "title": "Sensitization of glioma cells to tamoxifen-induced apoptosis by Pl3-kinase inhibitor through the GSK-3\u03b2/\u03b2-catenin signaling pathway.", "journal": "PloS one", "date": "2011", "authors": "Li Cuixian, Zhou Chun, Wang Shaogui, Feng Ying, Lin Wei, Lin Sisi, Wang Ying, Huang Heqing, Liu Peiqing, Mu Yong-Gao, Shen Xiaoyan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22046442", "url": "https://glygen.org/publication/PubMed/22046442" } ] }, { "title": "ARTEMIN synergizes with TWIST1 to promote metastasis and poor survival outcome in patients with ER negative mammary carcinoma.", "journal": "Breast cancer research : BCR", "date": "2011", "authors": "Banerjee A, Wu ZS, Qian P, Kang J, Pandey V, Liu DX, Zhu T, Lobie PE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22060274", "url": "https://glygen.org/publication/PubMed/22060274" } ] }, { "title": "High-dose rapamycin induces apoptosis in human cancer cells by dissociating mTOR complex 1 and suppressing phosphorylation of 4E-BP1.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2011-11-15", "authors": "Yellen Paige, Saqcena Mahesh, Salloum Darin, Feng Jiangnan, Preda Angela, Xu Limei, Rodrik-Outmezguine Vanessa, Foster David A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22071574", "url": "https://glygen.org/publication/PubMed/22071574" } ] }, { "title": "A switch from canonical to noncanonical Wnt signaling mediates drug resistance in colon cancer cells.", "journal": "PloS one", "date": "2011", "authors": "Bordonaro Michael, Tewari Shruti, Cicco Catherine E, Atamna Wafa, Lazarova Darina L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22073312", "url": "https://glygen.org/publication/PubMed/22073312" } ] }, { "title": "Multiple site acetylation of Rictor stimulates mammalian target of rapamycin complex 2 (mTORC2)-dependent phosphorylation of Akt protein.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Glidden EJ, Gray LG, Vemuru S, Li D, Harris TE, Mayo MW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22084251", "url": "https://glygen.org/publication/PubMed/22084251" } ] }, { "title": "The prognostic impact of Akt isoforms, PI3K and PTEN related to female steroid hormone receptors in soft tissue sarcomas.", "journal": "Journal of translational medicine", "date": "2011", "authors": "Valkov A, Kilvaer TK, Sorbye SW, Donnem T, Smeland E, Bremnes RM, Busund LT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22107784", "url": "https://glygen.org/publication/PubMed/22107784" } ] }, { "title": "S6K1 and 4E-BP1 are independent regulated and control cellular growth in bladder cancer.", "journal": "PloS one", "date": "2011", "authors": "Nawroth R, Stellwagen F, Schulz WA, Stoehr R, Hartmann A, Krause BJ, Gschwend JE, Retz M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22110663", "url": "https://glygen.org/publication/PubMed/22110663" } ] }, { "title": "Preclinical evaluation of dual PI3K-mTOR inhibitors and histone deacetylase inhibitors in head and neck squamous cell carcinoma.", "journal": "British journal of cancer", "date": "2012", "authors": "Erlich RB, Kherrouche Z, Rickwood D, Endo-Munoz L, Cameron S, Dahler A, Hazar-Rethinam M, de Long LM, Wooley K, Guminski A, Saunders NA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22116303", "url": "https://glygen.org/publication/PubMed/22116303" } ] }, { "title": "DNA-PK mediates AKT activation and apoptosis inhibition in clinically acquired platinum resistance.", "journal": "Neoplasia (New York, N.Y.)", "date": "2011", "authors": "Stronach EA, Chen M, Maginn EN, Agarwal R, Mills GB, Wasan H, Gabra H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22131882", "url": "https://glygen.org/publication/PubMed/22131882" } ] }, { "title": "Androgen Receptor Enhances p27 Degradation in Prostate Cancer Cells through Rapid and Selective TORC2 Activation.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Fang Z, Zhang T, Dizeyi N, Chen S, Wang H, Swanson KD, Cai C, Balk SP, Yuan X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22139837", "url": "https://glygen.org/publication/PubMed/22139837" } ] }, { "title": "Akt and p53 are potential mediators of reduced mammary tumor growth by cloroquine and the mTOR inhibitor RAD001.", "journal": "Biochemical pharmacology", "date": "2012", "authors": "Loehberg CR, Strissel PL, Dittrich R, Strick R, Dittmer J, Dittmer A, Fabry B, Kalender WA, Koch T, Wachter DL, Groh N, Polier A, Brandt I, Lotz L, Hoffmann I, Koppitz F, Oeser S, Mueller A, Fasching PA, Lux MP, Beckmann MW, Schrauder MG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22142888", "url": "https://glygen.org/publication/PubMed/22142888" } ] }, { "title": "Identification of dual mTORC1 and mTORC2 inhibitors in melanoma cells: prodigiosin vs. obatoclax.", "journal": "Biochemical pharmacology", "date": "2012", "authors": "Espona-Fiedler M, Soto-Cerrato V, Hosseini A, Lizcano JM, Guallar V, Quesada R, Gao T, Perez-Tomas R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22155350", "url": "https://glygen.org/publication/PubMed/22155350" } ] }, { "title": "Upregulation of mTORC2 activation by the selective agonist of EPAC, 8-CPT-2Me-cAMP, in prostate cancer cells: assembly of a multiprotein signaling complex.", "journal": "Journal of cellular biochemistry", "date": "2012-05", "authors": "Misra Uma K, Pizzo Salvatore V", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22173835", "url": "https://glygen.org/publication/PubMed/22173835" } ] }, { "title": "Hepatitis C virus NS5A binds to the mRNA cap-binding eukaryotic translation initiation 4F (eIF4F) complex and up-regulates host translation initiation machinery through eIF4E-binding protein 1 inactivation.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "George A, Panda S, Kudmulwar D, Chhatbar SP, Nayak SC, Krishnan HH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22184107", "url": "https://glygen.org/publication/PubMed/22184107" } ] }, { "title": "Unrestrained mammalian target of rapamycin complexes 1 and 2 increase expression of phosphatase and tensin homolog deleted on chromosome 10 to regulate phosphorylation of Akt kinase.", "journal": "The Journal of biological chemistry", "date": "2012-02-03", "authors": "Das Falguni, Ghosh-Choudhury Nandini, Dey Nirmalya, Mandal Chandi Charan, Mahimainathan Lenin, Kasinath Balakuntalam S, Abboud Hanna E, Choudhury Goutam Ghosh", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22184110", "url": "https://glygen.org/publication/PubMed/22184110" } ] }, { "title": "Efficient blockade of Akt signaling is a determinant factor to overcome resistance to matuzumab.", "journal": "Molecular cancer", "date": "2011", "authors": "Meira DD, Almeida VH, Mororo JS, Caetano MS, Nobrega IP, Batista D, Sternberg C, Ferreira CG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22185378", "url": "https://glygen.org/publication/PubMed/22185378" } ] }, { "title": "Reversing melanoma cross-resistance to BRAF and MEK inhibitors by co-targeting the AKT/mTOR pathway.", "journal": "PloS one", "date": "2011", "authors": "Atefi M, von Euw E, Attar N, Ng C, Chu C, Guo D, Nazarian R, Chmielowski B, Glaspy JA, Comin-Anduix B, Mischel PS, Lo RS, Ribas A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22194965", "url": "https://glygen.org/publication/PubMed/22194965" } ] }, { "title": "Proteins regulating cap-dependent translation are downregulated during total knee arthroplasty.", "journal": "American journal of physiology. Regulatory, integrative and comparative physiology", "date": "2012", "authors": "Ratchford SM, Bailey AN, Senesac HA, Hocker AD, Smolkowski K, Lantz BA, Jewett BA, Gilbert JS, Dreyer HC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22204954", "url": "https://glygen.org/publication/PubMed/22204954" } ] }, { "title": "Amplification and demultiplexing in insulin-regulated Akt protein kinase pathway in adipocytes.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Tan SX, Ng Y, Meoli CC, Kumar A, Khoo PS, Fazakerley DJ, Junutula JR, Vali S, James DE, Stockli J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22207758", "url": "https://glygen.org/publication/PubMed/22207758" } ] }, { "title": "Enhanced antitumor efficacy of gemcitabine by evodiamine on pancreatic cancer via regulating PI3K/Akt pathway.", "journal": "International journal of biological sciences", "date": "2012", "authors": "Wei WT, Chen H, Wang ZH, Ni ZL, Liu HB, Tong HF, Guo HC, Liu DL, Lin SZ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22211100", "url": "https://glygen.org/publication/PubMed/22211100" } ] }, { "title": "miR-122 regulates p53/Akt signalling and the chemotherapy-induced apoptosis in cutaneous T-cell lymphoma.", "journal": "PloS one", "date": "2012", "authors": "Manfe V, Biskup E, Rosbjerg A, Kamstrup M, Skov AG, Lerche CM, Lauenborg BT, Odum N, Gniadecki R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22235305", "url": "https://glygen.org/publication/PubMed/22235305" } ] }, { "title": "Downregulation of Id1 by small interfering RNA in gastric cancer inhibits cell growth via the Akt pathway.", "journal": "Molecular medicine reports", "date": "2012", "authors": "Yang G, Zhang Y, Xiong J, Wu J, Yang C, Huang H, Zhu Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22245935", "url": "https://glygen.org/publication/PubMed/22245935" } ] }, { "title": "Will PI3K pathway inhibitors be effective as single agents in patients with cancer?", "journal": "Oncotarget", "date": "2011", "authors": "Garrett JT, Chakrabarty A, Arteaga CL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22248929", "url": "https://glygen.org/publication/PubMed/22248929" } ] }, { "title": "Rab25 increases cellular ATP and glycogen stores protecting cancer cells from bioenergetic stress.", "journal": "EMBO molecular medicine", "date": "2012", "authors": "Cheng KW, Agarwal R, Mitra S, Lee JS, Carey M, Gray JW, Mills GB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22253197", "url": "https://glygen.org/publication/PubMed/22253197" } ] }, { "title": "Whey protein ingestion activates mTOR-dependent signalling after resistance exercise in young men: a double-blinded randomized controlled trial.", "journal": "Nutrients", "date": "2009", "authors": "Farnfield MM, Carey KA, Gran P, Trenerry MK, Cameron-Smith D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22253983", "url": "https://glygen.org/publication/PubMed/22253983" } ] }, { "title": "Effects of a novel DNA methyltransferase inhibitor Zebularine on human lens epithelial cells.", "journal": "Molecular vision", "date": "2012", "authors": "Zhou P, Lu Y, Sun XH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22259221", "url": "https://glygen.org/publication/PubMed/22259221" } ] }, { "title": "Autoregulation of kinase dephosphorylation by ATP binding in AGC protein kinases.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2012", "authors": "Chan TO, Pascal JM, Armen RS, Rodeck U", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22262182", "url": "https://glygen.org/publication/PubMed/22262182" } ] }, { "title": "Activation of protein kinase B/Akt by alpha1-adrenoceptors in the human prostate.", "journal": "Life sciences", "date": "2012", "authors": "Strittmatter F, Walther S, Roosen A, Rutz B, Schlenker B, Limmer S, Waidelich R, Stief CG, Gratzke C, Hennenberg M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22280833", "url": "https://glygen.org/publication/PubMed/22280833" } ] }, { "title": "Extracellular nicotinamide phosphoribosyltransferase (NAMPT/visfatin) inhibits insulin-like growth factor-1 signaling and proteoglycan synthesis in human articular chondrocytes.", "journal": "Arthritis research & therapy", "date": "2012", "authors": "Yammani RR, Loeser RF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22289259", "url": "https://glygen.org/publication/PubMed/22289259" } ] }, { "title": "Insulin induces internalization of the plasma membrane 5-hydroxytryptamine2A (5-HT2A) receptor in the isolated human endothelium-denuded saphenous vein via the phosphatidylinositol 3-kinase pathway.", "journal": "Journal of pharmacological sciences", "date": "2012", "authors": "Kanai T, Kuwabara M, Tanaka-Totoribe N, Nakamura E, Matsuo Y, Gamoh S, Suzuki A, Asada Y, Hisa H, Yamamoto R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22293289", "url": "https://glygen.org/publication/PubMed/22293289" } ] }, { "title": "PKCeta is a negative regulator of AKT inhibiting the IGF-I induced proliferation.", "journal": "Experimental cell research", "date": "2012", "authors": "Shahaf G, Rotem-Dai N, Koifman G, Raveh-Amit H, Frost SA, Livneh E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22305966", "url": "https://glygen.org/publication/PubMed/22305966" } ] }, { "title": "Hyperglycaemia normalises insulin action on glucose metabolism but not the impaired activation of AKT and glycogen synthase in the skeletal muscle of patients with type 2 diabetes.", "journal": "Diabetologia", "date": "2012", "authors": "Vind BF, Birk JB, Vienberg SG, Andersen B, Beck-Nielsen H, Wojtaszewski JF, Hojlund K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22322917", "url": "https://glygen.org/publication/PubMed/22322917" } ] }, { "title": "Synemin promotes AKT-dependent glioblastoma cell proliferation by antagonizing PP2A.", "journal": "Molecular biology of the cell", "date": "2012", "authors": "Pitre A, Davis N, Paul M, Orr AW, Skalli O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22337773", "url": "https://glygen.org/publication/PubMed/22337773" } ] }, { "title": "Caffeic acid phenethyl ester causes p21 induction, Akt signaling reduction, and growth inhibition in PC-3 human prostate cancer cells.", "journal": "PloS one", "date": "2012", "authors": "Lin HP, Jiang SS, Chuu CP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22347457", "url": "https://glygen.org/publication/PubMed/22347457" } ] }, { "title": "Signaling networks associated with AKT activation in non-small cell lung cancer (NSCLC): new insights on the role of phosphatydil-inositol-3 kinase.", "journal": "PloS one", "date": "2012", "authors": "Scrima M, De Marco C, Fabiani F, Franco R, Pirozzi G, Rocco G, Ravo M, Weisz A, Zoppoli P, Ceccarelli M, Botti G, Malanga D, Viglietto G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22363436", "url": "https://glygen.org/publication/PubMed/22363436" } ] }, { "title": "Activation of the PI3K/AKT pathway in Merkel cell carcinoma.", "journal": "PloS one", "date": "2012", "authors": "Hafner C, Houben R, Baeurle A, Ritter C, Schrama D, Landthaler M, Becker JC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22363598", "url": "https://glygen.org/publication/PubMed/22363598" } ] }, { "title": "Protein kinase C: a putative new target for the control of human medullary thyroid carcinoma cell proliferation in vitro.", "journal": "Endocrinology", "date": "2012", "authors": "Mole D, Gentilin E, Gagliano T, Tagliati F, Bondanelli M, Pelizzo MR, Rossi M, Filieri C, Pansini G, degli Uberti EC, Zatelli MC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22374978", "url": "https://glygen.org/publication/PubMed/22374978" } ] }, { "title": "Receptor-specific mechanisms regulate phosphorylation of AKT at Ser473: role of RICTOR in beta1 integrin-mediated cell survival.", "journal": "PloS one", "date": "2012", "authors": "Riaz A, Zeller KS, Johansson S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22384145", "url": "https://glygen.org/publication/PubMed/22384145" } ] }, { "title": "Recombinant viral capsid protein VP1 suppresses migration and invasion of human cervical cancer by modulating phosphorylated prohibitin in lipid rafts.", "journal": "Cancer letters", "date": "2012-07-28", "authors": "Chiu Ching-Feng, Peng Jei-Ming, Hung Shao-Wen, Liang Chi-Ming, Liang Shu-Mei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22388104", "url": "https://glygen.org/publication/PubMed/22388104" } ] }, { "title": "The deubiquitination enzyme USP46 functions as a tumor suppressor by controlling PHLPP-dependent attenuation of Akt signaling in colon cancer.", "journal": "Oncogene", "date": "2013", "authors": "Li X, Stevens PD, Yang H, Gulhati P, Wang W, Evers BM, Gao T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22391563", "url": "https://glygen.org/publication/PubMed/22391563" } ] }, { "title": "Optimal induction of myeloma cell death requires dual blockade of phosphoinositide 3-kinase and mTOR signalling and is determined by translocation subtype.", "journal": "Leukemia", "date": "2012", "authors": "Stengel C, Cheung CW, Quinn J, Yong K, Khwaja A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22415553", "url": "https://glygen.org/publication/PubMed/22415553" } ] }, { "title": "PIK3CA/PTEN mutations and Akt activation as markers of sensitivity to allosteric mTOR inhibitors.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2012", "authors": "Meric-Bernstam F, Akcakanat A, Chen H, Do KA, Sangai T, Adkins F, Gonzalez-Angulo AM, Rashid A, Crosby K, Dong M, Phan AT, Wolff RA, Gupta S, Mills GB, Yao J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22422409", "url": "https://glygen.org/publication/PubMed/22422409" } ] }, { "title": "Parkin pathway activation mitigates glioma cell proliferation and predicts patient survival.", "journal": "Cancer research", "date": "2012-05-15", "authors": "Yeo Calvin W S, Ng Felicia S L, Chai Chou, Tan Jeanne M M, Koh Geraldene R H, Chong Yuk Kien, Koh Lynnette W H, Foong Charlene S F, Sandanaraj Edwin, Holbrook Joanna D, Ang Beng-Ti, Takahashi Ryosuke, Tang Carol, Lim Kah-Leong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22431710", "url": "https://glygen.org/publication/PubMed/22431710" } ] }, { "title": "S100A4 regulates motility and invasiveness of human esophageal squamous cell carcinoma through modulating the AKT/Slug signal pathway.", "journal": "Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus", "date": "2012", "authors": "Zhang K, Zhang M, Zhao H, Yan B, Zhang D, Liang J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22458600", "url": "https://glygen.org/publication/PubMed/22458600" } ] }, { "title": "Thioridazine induces apoptosis by targeting the PI3K/Akt/mTOR pathway in cervical and endometrial cancer cells.", "journal": "Apoptosis : an international journal on programmed cell death", "date": "2012", "authors": "Kang S, Dong SM, Kim BR, Park MS, Trink B, Byun HJ, Rho SB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22460505", "url": "https://glygen.org/publication/PubMed/22460505" } ] }, { "title": "Vital roles of mTOR complex 2 in Notch-driven thymocyte differentiation and leukemia.", "journal": "The Journal of experimental medicine", "date": "2012", "authors": "Lee K, Nam KT, Cho SH, Gudapati P, Hwang Y, Park DS, Potter R, Chen J, Volanakis E, Boothby M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22473959", "url": "https://glygen.org/publication/PubMed/22473959" } ] }, { "title": "Targeting of mTORC2 prevents cell migration and promotes apoptosis in breast cancer.", "journal": "Breast cancer research and treatment", "date": "2012", "authors": "Li H, Lin J, Wang X, Yao G, Wang L, Zheng H, Yang C, Jia C, Liu A, Bai X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22476852", "url": "https://glygen.org/publication/PubMed/22476852" } ] }, { "title": "Akt/PKB controls the activity-dependent bulk endocytosis of synaptic vesicles.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2012", "authors": "Smillie KJ, Cousin MA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22487004", "url": "https://glygen.org/publication/PubMed/22487004" } ] }, { "title": "Concurrent resistance and aerobic exercise stimulates both myofibrillar and mitochondrial protein synthesis in sedentary middle-aged men.", "journal": "Journal of applied physiology (Bethesda, Md. : 1985)", "date": "2012-06", "authors": "Donges Cheyne E, Burd Nicholas A, Duffield Rob, Smith Greg C, West Daniel W D, Short Michael J, Mackenzie Richard, Plank Lindsay D, Shepherd Peter R, Phillips Stuart M, Edge Johann A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22492939", "url": "https://glygen.org/publication/PubMed/22492939" } ] }, { "title": "PERK utilizes intrinsic lipid kinase activity to generate phosphatidic acid, mediate Akt activation, and promote adipocyte differentiation.", "journal": "Molecular and cellular biology", "date": "2012-06", "authors": "Bobrovnikova-Marjon Ekaterina, Pytel Dariusz, Riese Matthew J, Vaites Laura Pontano, Singh Nickpreet, Koretzky Gary A, Witze Eric S, Diehl J Alan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22493067", "url": "https://glygen.org/publication/PubMed/22493067" } ] }, { "title": "Specific roles of Akt iso forms in apoptosis and axon growth regulation in neurons.", "journal": "PloS one", "date": "2012", "authors": "Diez H, Garrido JJ, Wandosell F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22509246", "url": "https://glygen.org/publication/PubMed/22509246" } ] }, { "title": "The signaling mechanisms mediating the inhibitory effect of TCH-1116 on formyl peptide-stimulated superoxide anion generation in neutrophils.", "journal": "European journal of pharmacology", "date": "2012", "authors": "Tsai YR, Huang LJ, Lee MR, Chen YL, Kuo SC, Tzeng CC, Hsu MF, Wang JP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22510297", "url": "https://glygen.org/publication/PubMed/22510297" } ] }, { "title": "Ataxin-1 poly(Q)-induced proteotoxic stress and apoptosis are attenuated in neural cells by docosahexaenoic acid-derived neuroprotectin D1.", "journal": "The Journal of biological chemistry", "date": "2012-07-06", "authors": "Calandria Jorgelina M, Mukherjee Pranab K, de Rivero Vaccari Juan Carlos, Zhu Min, Petasis Nicos A, Bazan Nicolas G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22511762", "url": "https://glygen.org/publication/PubMed/22511762" } ] }, { "title": "The Concept of Divergent Targeting through the Activation and Inhibition of Receptors as a Novel Chemotherapeutic Strategy: Signaling Responses to Strong DNA-Reactive Combinatorial Mimicries.", "journal": "Journal of signal transduction", "date": "2012", "authors": "Watt HL, Rachid Z, Jean-Claude BJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22523681", "url": "https://glygen.org/publication/PubMed/22523681" } ] }, { "title": "Inability of NS1 protein from an H5N1 influenza virus to activate PI3K/Akt signaling pathway correlates to the enhanced virus replication upon PI3K inhibition.", "journal": "Veterinary research", "date": "2012", "authors": "Li W, Wang G, Zhang H, Shen Y, Dai J, Wu L, Zhou J, Jiang Z, Li K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22530768", "url": "https://glygen.org/publication/PubMed/22530768" } ] }, { "title": "Aloe-emodin suppresses prostate cancer by targeting the mTOR complex 2.", "journal": "Carcinogenesis", "date": "2012", "authors": "Liu K, Park C, Li S, Lee KW, Liu H, He L, Soung NK, Ahn JS, Bode AM, Dong Z, Kim BY, Dong Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22532249", "url": "https://glygen.org/publication/PubMed/22532249" } ] }, { "title": "Tau phosphorylation and \u03bc-calpain activation mediate the dexamethasone-induced inhibition on the insulin-stimulated Akt phosphorylation.", "journal": "PloS one", "date": "2012", "authors": "Liu Yudong, Su Ying, Sun Shenggang, Wang Tao, Qiao Xian, Run Xiaoqin, Liang Zhihou", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22536436", "url": "https://glygen.org/publication/PubMed/22536436" } ] }, { "title": "Regulatory effects of mTORC2 complexes in type I IFN signaling and in the generation of IFN responses.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Kaur S, Sassano A, Majchrzak-Kita B, Baker DP, Su B, Fish EN, Platanias LC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22550181", "url": "https://glygen.org/publication/PubMed/22550181" } ] }, { "title": "An ATP-site on-off switch that restricts phosphatase accessibility of Akt.", "journal": "Science signaling", "date": "2012", "authors": "Lin K, Lin J, Wu WI, Ballard J, Lee BB, Gloor SL, Vigers GP, Morales TH, Friedman LS, Skelton N, Brandhuber BJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22569334", "url": "https://glygen.org/publication/PubMed/22569334" } ] }, { "title": "Human cataract mutations in EPHA2 SAM domain alter receptor stability and function.", "journal": "PloS one", "date": "2012", "authors": "Park JE, Son AI, Hua R, Wang L, Zhang X, Zhou R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22570727", "url": "https://glygen.org/publication/PubMed/22570727" } ] }, { "title": "Perifosine as a potential novel anti-cancer agent inhibits EGFR/MET-AKT axis in malignant pleural mesothelioma.", "journal": "PloS one", "date": "2012", "authors": "Pinton G, Manente AG, Angeli G, Mutti L, Moro L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22590625", "url": "https://glygen.org/publication/PubMed/22590625" } ] }, { "title": "Extracellular nucleotides inhibit insulin receptor signaling, stimulate autophagy and control lipoprotein secretion.", "journal": "PloS one", "date": "2012", "authors": "Chatterjee C, Sparks DL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22590634", "url": "https://glygen.org/publication/PubMed/22590634" } ] }, { "title": "Synergistic activity of the mTOR inhibitor ridaforolimus and the antiandrogen bicalutamide in prostate cancer models.", "journal": "International journal of oncology", "date": "2012", "authors": "Squillace RM, Miller D, Wardwell SD, Wang F, Clackson T, Rivera VM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22614157", "url": "https://glygen.org/publication/PubMed/22614157" } ] }, { "title": "Effects of fatty acid treatments on the dexamethasone-induced intramuscular lipid accumulation in chickens.", "journal": "PloS one", "date": "2012", "authors": "Wang Xj, Wei Dl, Song Zg, Jiao Hc, Lin H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22623960", "url": "https://glygen.org/publication/PubMed/22623960" } ] }, { "title": "A novel adipocytokine, chemerin exerts anti-inflammatory roles in human vascular endothelial cells.", "journal": "Biochemical and biophysical research communications", "date": "2012-06-22", "authors": "Yamawaki Hideyuki, Kameshima Satoshi, Usui Tatsuya, Okada Muneyoshi, Hara Yukio", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22634313", "url": "https://glygen.org/publication/PubMed/22634313" } ] }, { "title": "Akt (protein kinase B) isoform phosphorylation and signaling downstream of mTOR (mammalian target of rapamycin) in denervated atrophic and hypertrophic mouse skeletal muscle.", "journal": "Journal of molecular signaling", "date": "2012", "authors": "Norrby M, Evertsson K, Fjallstrom AK, Svensson A, Tagerud S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22657251", "url": "https://glygen.org/publication/PubMed/22657251" } ] }, { "title": "Invasive breast cancer induces laminin-332 upregulation and integrin \u03b24 neoexpression in myofibroblasts to confer an anoikis-resistant phenotype during tissue remodeling.", "journal": "Breast cancer research : BCR", "date": "2012-06-06", "authors": "Kim Baek Gil, Gao Ming-Qing, Choi Yoon Pyo, Kang Suki, Park Haeng Ran, Kang Kyu Sub, Cho Nam Hoon", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22673183", "url": "https://glygen.org/publication/PubMed/22673183" } ] }, { "title": "Knockdown of the fat mass and obesity gene disrupts cellular energy balance in a cell-type specific manner.", "journal": "PloS one", "date": "2012", "authors": "Pitman RT, Fong JT, Billman P, Puri N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22675562", "url": "https://glygen.org/publication/PubMed/22675562" } ] }, { "title": "microRNA-21 governs TORC1 activation in renal cancer cell proliferation and invasion.", "journal": "PloS one", "date": "2012", "authors": "Dey N, Das F, Ghosh-Choudhury N, Mandal CC, Parekh DJ, Block K, Kasinath BS, Abboud HE, Choudhury GG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22685542", "url": "https://glygen.org/publication/PubMed/22685542" } ] }, { "title": "A marine anthraquinone SZ-685C overrides adriamycin-resistance in breast cancer cells through suppressing Akt signaling.", "journal": "Marine drugs", "date": "2012", "authors": "Zhu X, He Z, Wu J, Yuan J, Wen W, Hu Y, Jiang Y, Lin C, Zhang Q, Lin M, Zhang H, Yang W, Chen H, Zhong L, She Z, Chen S, Lin Y, Li M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22690138", "url": "https://glygen.org/publication/PubMed/22690138" } ] }, { "title": "Fatty acid-binding protein 4 impairs the insulin-dependent nitric oxide pathway in vascular endothelial cells.", "journal": "Cardiovascular diabetology", "date": "2012", "authors": "Aragones G, Saavedra P, Heras M, Cabre A, Girona J, Masana L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22709426", "url": "https://glygen.org/publication/PubMed/22709426" } ] }, { "title": "MicroRNA-497 targets insulin-like growth factor 1 receptor and has a tumour suppressive role in human colorectal cancer.", "journal": "Oncogene", "date": "2013-04-11", "authors": "Guo S T, Jiang C C, Wang G P, Li Y P, Wang C Y, Guo X Y, Yang R H, Feng Y, Wang F H, Tseng H-Y, Thorne R F, Jin L, Zhang X D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22710713", "url": "https://glygen.org/publication/PubMed/22710713" } ] }, { "title": "TG-interacting factor-induced superoxide production from NADPH oxidase contributes to the migration/invasion of urothelial carcinoma.", "journal": "Free radical biology & medicine", "date": "2012", "authors": "Huang HS, Liu ZM, Chen PC, Tseng HY, Yeh BW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22728270", "url": "https://glygen.org/publication/PubMed/22728270" } ] }, { "title": "Astragalus polysaccharide improves palmitate-induced insulin resistance by inhibiting PTP1B and NF-kappaB in C2C12 myotubes.", "journal": "Molecules (Basel, Switzerland)", "date": "2012", "authors": "Zhao M, Zhang ZF, Ding Y, Wang JB, Li Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22728372", "url": "https://glygen.org/publication/PubMed/22728372" } ] }, { "title": "Arsenic trioxide induces G2/M arrest in hepatocellular carcinoma cells by increasing the tumor suppressor PTEN expression.", "journal": "Journal of cellular biochemistry", "date": "2012", "authors": "Zhang X, Jia S, Yang S, Yang Y, Yang T, Yang Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22730174", "url": "https://glygen.org/publication/PubMed/22730174" } ] }, { "title": "PI3K regulation of the SKP-2/p27 axis through mTORC2.", "journal": "Oncogene", "date": "2013", "authors": "Shanmugasundaram K, Block K, Nayak BK, Livi CB, Venkatachalam MA, Sudarshan S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22733130", "url": "https://glygen.org/publication/PubMed/22733130" } ] }, { "title": "Functional switching of ATM: sensor of DNA damage in proliferating cells and mediator of Akt survival signal in post-mitotic human neuron-like cells.", "journal": "Chinese journal of cancer", "date": "2012", "authors": "Li Y, Xiong H, Yang DQ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22739265", "url": "https://glygen.org/publication/PubMed/22739265" } ] }, { "title": "Anti-apoptotic effects of suppressor of cytokine signaling 3 and 1 in psoriasis.", "journal": "Cell death & disease", "date": "2012", "authors": "Madonna S, Scarponi C, Pallotta S, Cavani A, Albanesi C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22739986", "url": "https://glygen.org/publication/PubMed/22739986" } ] }, { "title": "BRCA1 negatively regulates IGF-1 expression through an estrogen-responsive element-like site.", "journal": "Cell death & disease", "date": "2012-06-28", "authors": "Kang H J, Yi Y W, Kim H J, Hong Y B, Seong Y S, Bae I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22739988", "url": "https://glygen.org/publication/PubMed/22739988" } ] }, { "title": "Vascular endothelial growth factor receptor-3 directly interacts with phosphatidylinositol 3-kinase to regulate lymphangiogenesis.", "journal": "PloS one", "date": "2012", "authors": "Coso S, Zeng Y, Opeskin K, Williams ED", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22745786", "url": "https://glygen.org/publication/PubMed/22745786" } ] }, { "title": "Identification of ILK as a new partner of the ADAM12 disintegrin and metalloprotease in cell adhesion and survival.", "journal": "Molecular biology of the cell", "date": "2012-09", "authors": "Leyme Anthony, Bourd-Boittin Katia, Bonnier Dominique, Falconer Ana\u00efs, Arlot-Bonnemains Yannick, Th\u00e9ret Nathalie", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22767580", "url": "https://glygen.org/publication/PubMed/22767580" } ] }, { "title": "TGF-beta1 induces tissue factor expression in human lung fibroblasts in a PI3K/JNK/Akt-dependent and AP-1-dependent manner.", "journal": "American journal of respiratory cell and molecular biology", "date": "2012", "authors": "Wygrecka M, Zakrzewicz D, Taborski B, Didiasova M, Kwapiszewska G, Preissner KT, Markart P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22771387", "url": "https://glygen.org/publication/PubMed/22771387" } ] }, { "title": "AT13148 is a novel, oral multi-AGC kinase inhibitor with potent pharmacodynamic and antitumor activity.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2012", "authors": "Yap TA, Walton MI, Grimshaw KM, Te Poele RH, Eve PD, Valenti MR, de Haven Brandon AK, Martins V, Zetterlund A, Heaton SP, Heinzmann K, Jones PS, Feltell RE, Reule M, Woodhead SJ, Davies TG, Lyons JF, Raynaud FI, Eccles SA, Workman P, Thompson NT, Garrett MD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22781553", "url": "https://glygen.org/publication/PubMed/22781553" } ] }, { "title": "Palmitate contributes to insulin resistance through downregulation of the Src-mediated phosphorylation of Akt in C2C12 myotubes.", "journal": "Bioscience, biotechnology, and biochemistry", "date": "2012", "authors": "Feng Xiao-Tao, Wang Tian-Zhan, Leng Jing, Chen Yi, Liu Ji-Bo, Liu Yi, Wang Wen-Jian", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22785470", "url": "https://glygen.org/publication/PubMed/22785470" } ] }, { "title": "Immunohistochemical analysis of the Akt/mTOR/4E-BP1 signalling pathway in canine haemangiomas and haemangiosarcomas.", "journal": "Journal of comparative pathology", "date": "2012", "authors": "Murai A, Abou Asa S, Kodama A, Sakai H, Hirata A, Yanai T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22789858", "url": "https://glygen.org/publication/PubMed/22789858" } ] }, { "title": "Ligand-free estrogen receptor activity complements IGF1R to induce the proliferation of the MCF-7 breast cancer cells.", "journal": "BMC cancer", "date": "2012", "authors": "Gaben AM, Sabbah M, Redeuilh G, Bedin M, Mester J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22799881", "url": "https://glygen.org/publication/PubMed/22799881" } ] }, { "title": "Distinct roles of AKT isoforms in regulating beta1-integrin activity, migration, and invasion in prostate cancer.", "journal": "Molecular biology of the cell", "date": "2012", "authors": "Virtakoivu R, Pellinen T, Rantala JK, Perala M, Ivaska J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22809628", "url": "https://glygen.org/publication/PubMed/22809628" } ] }, { "title": "An antitumor peptide from Musca domestica pupae (MATP) induces apoptosis in HepG2 cells through a JNK-mediated and Akt-mediated NF-\u03baB pathway.", "journal": "Anti-cancer drugs", "date": "2012-09", "authors": "Zhang Rongping, Cao Xiaohong, Wang Chunling, Hou Lihua, Nie Jianzeng, Zhou Minghui, Feng Yongzhen", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22824823", "url": "https://glygen.org/publication/PubMed/22824823" } ] }, { "title": "Inhibition of phosphodiesterase-4 (PDE4) activity triggers luminal apoptosis and AKT dephosphorylation in a 3-D colonic-crypt model.", "journal": "Molecular cancer", "date": "2012", "authors": "Tsunoda T, Ota T, Fujimoto T, Doi K, Tanaka Y, Yoshida Y, Ogawa M, Matsuzaki H, Hamabashiri M, Tyson DR, Kuroki M, Miyamoto S, Shirasawa S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22830422", "url": "https://glygen.org/publication/PubMed/22830422" } ] }, { "title": "Constitutive phosphorylation of the mTORC2/Akt/4E-BP1 pathway in newly derived canine hemangiosarcoma cell lines.", "journal": "BMC veterinary research", "date": "2012", "authors": "Murai A, Asa SA, Kodama A, Hirata A, Yanai T, Sakai H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22839755", "url": "https://glygen.org/publication/PubMed/22839755" } ] }, { "title": "Study of transforming growth factor alpha for the maintenance of human embryonic stem cells.", "journal": "Cell and tissue research", "date": "2012-11", "authors": "Chen Andy C H, Lee Y L, Hou Denise Y C, Fong S W, Peng Qian, Pang Ronald T K, Chiu Phillip C N, Ho P C, Lee Kai-Fai, Yeung William S B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22864984", "url": "https://glygen.org/publication/PubMed/22864984" } ] }, { "title": "Stabilization of HIF-2\u03b1 through redox regulation of mTORC2 activation and initiation of mRNA translation.", "journal": "Oncogene", "date": "2013-06-27", "authors": "Nayak B K, Feliers D, Sudarshan S, Friedrichs W E, Day R T, New D D, Fitzgerald J P, Eid A, Denapoli T, Parekh D J, Gorin Y, Block K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22869144", "url": "https://glygen.org/publication/PubMed/22869144" } ] }, { "title": "Alterations in lipid signaling underlie lipodystrophy secondary to AGPAT2 mutations.", "journal": "Diabetes", "date": "2012-11", "authors": "Subauste Angela R, Das Arun K, Li Xiangquan, Elliott Brandon G, Elliot Brandon, Evans Charles, El Azzouny Mahmoud, Treutelaar Mary, Oral Elif, Leff Todd, Burant Charles F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22872237", "url": "https://glygen.org/publication/PubMed/22872237" } ] }, { "title": "PI3K contributed to modulation of spinal nociceptive information related to ephrinBs/EphBs.", "journal": "PloS one", "date": "2012", "authors": "Yu LN, Zhou XL, Yu J, Huang H, Jiang LS, Zhang FJ, Cao JL, Yan M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22879882", "url": "https://glygen.org/publication/PubMed/22879882" } ] }, { "title": "BRAFV600E negatively regulates the AKT pathway in melanoma cell lines.", "journal": "PloS one", "date": "2012", "authors": "Chen B, Tardell C, Higgins B, Packman K, Boylan JF, Niu H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22880048", "url": "https://glygen.org/publication/PubMed/22880048" } ] }, { "title": "Piperine, a dietary phytochemical, inhibits angiogenesis.", "journal": "The Journal of nutritional biochemistry", "date": "2013", "authors": "Doucette CD, Hilchie AL, Liwski R, Hoskin DW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22902327", "url": "https://glygen.org/publication/PubMed/22902327" } ] }, { "title": "Rottlerin induces autophagy which leads to apoptotic cell death through inhibition of PI3K/Akt/mTOR pathway in human pancreatic cancer stem cells.", "journal": "Biochemical pharmacology", "date": "2012", "authors": "Singh BN, Kumar D, Shankar S, Srivastava RK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22902833", "url": "https://glygen.org/publication/PubMed/22902833" } ] }, { "title": "Grape proanthocyanidin inhibit pancreatic cancer cell growth in vitro and in vivo through induction of apoptosis and by targeting the PI3K/Akt pathway.", "journal": "PloS one", "date": "2012", "authors": "Prasad R, Vaid M, Katiyar SK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22905202", "url": "https://glygen.org/publication/PubMed/22905202" } ] }, { "title": "Dopamine D2 receptor-mediated Akt/PKB signalling: initiation by the D2S receptor and role in quinpirole-induced behavioural activation.", "journal": "ASN neuro", "date": "2012", "authors": "Chen HT, Ruan NY, Chen JC, Lin TY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22909302", "url": "https://glygen.org/publication/PubMed/22909302" } ] }, { "title": "The epithelial-mesenchymal transition (EMT) regulatory factor SLUG (SNAI2) is a downstream target of SPARC and AKT in promoting melanoma cell invasion.", "journal": "PloS one", "date": "2012", "authors": "Fenouille N, Tichet M, Dufies M, Pottier A, Mogha A, Soo JK, Rocchi S, Mallavialle A, Galibert MD, Khammari A, Lacour JP, Ballotti R, Deckert M, Tartare-Deckert S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22911700", "url": "https://glygen.org/publication/PubMed/22911700" } ] }, { "title": "Targeted silencing of elongation factor 2 kinase suppresses growth and sensitizes tumors to doxorubicin in an orthotopic model of breast cancer.", "journal": "PloS one", "date": "2012", "authors": "Tekedereli I, Alpay SN, Tavares CD, Cobanoglu ZE, Kaoud TS, Sahin I, Sood AK, Lopez-Berestein G, Dalby KN, Ozpolat B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22911754", "url": "https://glygen.org/publication/PubMed/22911754" } ] }, { "title": "Inhibition of AKT with the orally active allosteric AKT inhibitor, MK-2206, sensitizes endometrial cancer cells to progestin.", "journal": "PloS one", "date": "2012", "authors": "Pant A, Lee II, Lu Z, Rueda BR, Schink J, Kim JJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22911820", "url": "https://glygen.org/publication/PubMed/22911820" } ] }, { "title": "Identification of the amino acids 300-600 of IRS-2 as 14-3-3 binding region with the importance of IGF-1/insulin-regulated phosphorylation of Ser-573.", "journal": "PloS one", "date": "2012", "authors": "Neukamm SS, Toth R, Morrice N, Campbell DG, Mackintosh C, Lehmann R, Haering HU, Schleicher ED, Weigert C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22912850", "url": "https://glygen.org/publication/PubMed/22912850" } ] }, { "title": "The inflammatory chemokine CXC motif ligand 16 triggers platelet activation and adhesion via CXC motif receptor 6-dependent phosphatidylinositide 3-kinase/Akt signaling.", "journal": "Circulation research", "date": "2012", "authors": "Borst O, Munzer P, Gatidis S, Schmidt EM, Schonberger T, Schmid E, Towhid ST, Stellos K, Seizer P, May AE, Lang F, Gawaz M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22927331", "url": "https://glygen.org/publication/PubMed/22927331" } ] }, { "title": "XB130 mediates cancer cell proliferation and survival through multiple signaling events downstream of Akt.", "journal": "PloS one", "date": "2012", "authors": "Shiozaki A, Shen-Tu G, Bai X, Iitaka D, De Falco V, Santoro M, Keshavjee S, Liu M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22928011", "url": "https://glygen.org/publication/PubMed/22928011" } ] }, { "title": "Inhibition of EGFR-AKT axis results in the suppression of ovarian tumors in vitro and in preclinical mouse model.", "journal": "PloS one", "date": "2012", "authors": "Loganathan S, Kandala PK, Gupta P, Srivastava SK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22952709", "url": "https://glygen.org/publication/PubMed/22952709" } ] }, { "title": "MiRNA-21 reverses high glucose and high insulin induced insulin resistance in 3T3-L1 adipocytes through targeting phosphatase and tensin homologue.", "journal": "Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association", "date": "2012", "authors": "Ling HY, Hu B, Hu XB, Zhong J, Feng SD, Qin L, Liu G, Wen GB, Liao DF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22956257", "url": "https://glygen.org/publication/PubMed/22956257" } ] }, { "title": "Nitric oxide synthase and breast cancer: role of TIMP-1 in NO-mediated Akt activation.", "journal": "PloS one", "date": "2012", "authors": "Ridnour LA, Barasch KM, Windhausen AN, Dorsey TH, Lizardo MM, Yfantis HG, Lee DH, Switzer CH, Cheng RY, Heinecke JL, Brueggemann E, Hines HB, Khanna C, Glynn SA, Ambs S, Wink DA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22957045", "url": "https://glygen.org/publication/PubMed/22957045" } ] }, { "title": "Syndecan 4 regulation of PDK1-dependent Akt activation.", "journal": "Cellular signalling", "date": "2013", "authors": "Ju R, Simons M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22975683", "url": "https://glygen.org/publication/PubMed/22975683" } ] }, { "title": "Downregulation of protein kinase CK2 induces autophagic cell death through modulation of the mTOR and MAPK signaling pathways in human glioblastoma cells.", "journal": "International journal of oncology", "date": "2012", "authors": "Olsen BB, Svenstrup TH, Guerra B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23007634", "url": "https://glygen.org/publication/PubMed/23007634" } ] }, { "title": "A kinase inhibitor screen identifies small-molecule enhancers of reprogramming and iPS cell generation.", "journal": "Nature communications", "date": "2012", "authors": "Li Z, Rana TM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23011139", "url": "https://glygen.org/publication/PubMed/23011139" } ] }, { "title": "PKA and GAB2 play central roles in the FSH signaling pathway to PI3K and AKT in ovarian granulosa cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Hunzicker-Dunn ME, Lopez-Biladeau B, Law NC, Fiedler SE, Carr DW, Maizels ET", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23045700", "url": "https://glygen.org/publication/PubMed/23045700" } ] }, { "title": "VAMP-associated protein B (VAPB) promotes breast tumor growth by modulation of Akt activity.", "journal": "PloS one", "date": "2012", "authors": "Rao M, Song W, Jiang A, Shyr Y, Lev S, Greenstein D, Brantley-Sieders D, Chen J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23049696", "url": "https://glygen.org/publication/PubMed/23049696" } ] }, { "title": "Regulation of NF-kappaB activation through a novel PI-3K-independent and PKA/Akt-dependent pathway in human umbilical vein endothelial cells.", "journal": "PloS one", "date": "2012", "authors": "Balwani S, Chaudhuri R, Nandi D, Jaisankar P, Agrawal A, Ghosh B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23071583", "url": "https://glygen.org/publication/PubMed/23071583" } ] }, { "title": "Oxidized low-density lipoproteins impair endothelial function by inhibiting non-genomic action of thyroid hormone-mediated nitric oxide production in human endothelial cells.", "journal": "Thyroid : official journal of the American Thyroid Association", "date": "2013", "authors": "Vicinanza R, Coppotelli G, Malacrino C, Nardo T, Buchetti B, Lenti L, Celi FS, Scarpa S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23072587", "url": "https://glygen.org/publication/PubMed/23072587" } ] }, { "title": "Non-canonical Smads phosphorylation induced by the glutamate release inhibitor, riluzole, through GSK3 activation in melanoma.", "journal": "PloS one", "date": "2012", "authors": "Abushahba W, Olabisi OO, Jeong BS, Boregowda RK, Wen Y, Liu F, Goydos JS, Lasfar A, Cohen-Solal KA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23077590", "url": "https://glygen.org/publication/PubMed/23077590" } ] }, { "title": "Integrin alphaIIb-mediated PI3K/Akt activation in platelets.", "journal": "PloS one", "date": "2012", "authors": "Niu H, Chen X, Gruppo RA, Li D, Wang Y, Zhang L, Wang K, Chai W, Sun Y, Ding Z, Gartner TK, Liu J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23082158", "url": "https://glygen.org/publication/PubMed/23082158" } ] }, { "title": "[Effect of Evn-50 on cell growth and apoptosis in tamoxifen-resistance human breast cancer cell line MCF-7/TAM-R].", "journal": "Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences", "date": "2012", "authors": "Hu HY, Zhou J, Wan F, Dong LF, Zhang F, Wang YK, Chen FF, Chen YD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23086641", "url": "https://glygen.org/publication/PubMed/23086641" } ] }, { "title": "Chloroquine or chloroquine-PI3K/Akt pathway inhibitor combinations strongly promote gamma-irradiation-induced cell death in primary stem-like glioma cells.", "journal": "PloS one", "date": "2012", "authors": "Firat E, Weyerbrock A, Gaedicke S, Grosu AL, Niedermann G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23091617", "url": "https://glygen.org/publication/PubMed/23091617" } ] }, { "title": "Quercetin inhibits angiogenesis mediated human prostate tumor growth by targeting VEGFR- 2 regulated AKT/mTOR/P70S6K signaling pathways.", "journal": "PloS one", "date": "2012", "authors": "Pratheeshkumar P, Budhraja A, Son YO, Wang X, Zhang Z, Ding S, Wang L, Hitron A, Lee JC, Xu M, Chen G, Luo J, Shi X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23094058", "url": "https://glygen.org/publication/PubMed/23094058" } ] }, { "title": "Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.", "journal": "Human molecular genetics", "date": "2013", "authors": "Rios JJ, Paria N, Burns DK, Israel BA, Cornelia R, Wise CA, Ezaki M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23100325", "url": "https://glygen.org/publication/PubMed/23100325" } ] }, { "title": "Targeting 3-phosphoinoside-dependent kinase-1 to inhibit insulin-like growth factor-I induced AKT and p70 S6 kinase activation in breast cancer cells.", "journal": "PloS one", "date": "2012", "authors": "Baxi SM, Tan W, Murphy ST, Smeal T, Yin MJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23119004", "url": "https://glygen.org/publication/PubMed/23119004" } ] }, { "title": "Okadaic acid induces Akt hyperphosphorylation and an oxidative stress-mediated cell death in serum starved SK-N-SH human neuroblastoma cells that are augmented by rapamycin.", "journal": "Neuroscience letters", "date": "2012-12-07", "authors": "Edelstein Jacob, Rockwell Patricia", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23127854", "url": "https://glygen.org/publication/PubMed/23127854" } ] }, { "title": "Wogonin induces apoptosis in RPMI 8226, a human myeloma cell line, by downregulating phospho-Akt and overexpressing Bax.", "journal": "Life sciences", "date": "2013", "authors": "Zhang M, Liu LP, Chen Y, Tian XY, Qin J, Wang D, Li Z, Mo SL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23142241", "url": "https://glygen.org/publication/PubMed/23142241" } ] }, { "title": "Attenuation of miR-126 activity expands HSC in vivo without exhaustion.", "journal": "Cell stem cell", "date": "2012", "authors": "Lechman ER, Gentner B, van Galen P, Giustacchini A, Saini M, Boccalatte FE, Hiramatsu H, Restuccia U, Bachi A, Voisin V, Bader GD, Dick JE, Naldini L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23142521", "url": "https://glygen.org/publication/PubMed/23142521" } ] }, { "title": "Neuroendocrine phenotype alteration and growth suppression through apoptosis by MK-2206, an allosteric inhibitor of AKT, in carcinoid cell lines in vitro.", "journal": "Anti-cancer drugs", "date": "2013", "authors": "Somnay Y, Simon K, Harrison AD, Kunnimalaiyaan S, Chen H, Kunnimalaiyaan M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23147412", "url": "https://glygen.org/publication/PubMed/23147412" } ] }, { "title": "Ophiopogonin B-induced autophagy in non-small cell lung cancer cells via inhibition of the PI3K/Akt signaling pathway.", "journal": "Oncology reports", "date": "2013", "authors": "Chen M, Du Y, Qui M, Wang M, Chen K, Huang Z, Jiang M, Xiong F, Chen J, Zhou J, Jiang F, Yin L, Tang Y, Ye L, Zhan Z, Duan JAlpha, Fu HAlpha, Zhang X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23151908", "url": "https://glygen.org/publication/PubMed/23151908" } ] }, { "title": "Autophagy as a new therapeutic target in Duchenne muscular dystrophy.", "journal": "Cell death & disease", "date": "2012", "authors": "De Palma C, Morisi F, Cheli S, Pambianco S, Cappello V, Vezzoli M, Rovere-Querini P, Moggio M, Ripolone M, Francolini M, Sandri M, Clementi E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23152054", "url": "https://glygen.org/publication/PubMed/23152054" } ] }, { "title": "Transforming growth factor alpha (TGFalpha) regulates granulosa cell tumor (GCT) cell proliferation and migration through activation of multiple pathways.", "journal": "PloS one", "date": "2012", "authors": "Wang C, Lv X, Jiang C, Cordes CM, Fu L, Lele SM, Davis JS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23155381", "url": "https://glygen.org/publication/PubMed/23155381" } ] }, { "title": "Protein kinase B/AKT isoform 2 drives migration of human mesenchymal stem cells.", "journal": "International journal of oncology", "date": "2013", "authors": "Bulj Z, Duchi S, Bevilacqua A, Gherardi A, Dozza B, Piccinini F, Adalgisa Mariani G, Lucarelli E, Giannini S, Donati D, Marmiroli S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23165443", "url": "https://glygen.org/publication/PubMed/23165443" } ] }, { "title": "Combined targeting of AKT and mTOR synergistically inhibits proliferation of hepatocellular carcinoma cells.", "journal": "Molecular cancer", "date": "2012", "authors": "Grabinski N, Ewald F, Hofmann BT, Staufer K, Schumacher U, Nashan B, Jucker M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23167739", "url": "https://glygen.org/publication/PubMed/23167739" } ] }, { "title": "Salinomycin induces cell death and differentiation in head and neck squamous cell carcinoma stem cells despite activation of epithelial-mesenchymal transition and Akt.", "journal": "BMC cancer", "date": "2012", "authors": "Kuo SZ, Blair KJ, Rahimy E, Kiang A, Abhold E, Fan JB, Wang-Rodriguez J, Altuna X, Ongkeko WM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23176396", "url": "https://glygen.org/publication/PubMed/23176396" } ] }, { "title": "NOD1 activation induces innate immune responses and insulin resistance in human adipocytes.", "journal": "Diabetes & metabolism", "date": "2012", "authors": "Zhou YJ, Zhou H, Li Y, Song YL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23182460", "url": "https://glygen.org/publication/PubMed/23182460" } ] }, { "title": "PDK1 regulation of mTOR and hypoxia-inducible factor 1 integrate metabolism and migration of CD8+ T cells.", "journal": "The Journal of experimental medicine", "date": "2012-12-17", "authors": "Finlay David K, Rosenzweig Ella, Sinclair Linda V, Feijoo-Carnero Carmen, Hukelmann Jens L, Rolf Julia, Panteleyev Andrey A, Okkenhaug Klaus, Cantrell Doreen A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23183047", "url": "https://glygen.org/publication/PubMed/23183047" } ] }, { "title": "CCN2 exerts direct cytoprotective actions in adult cardiac myocytes by activation of the PI3-kinase/Akt/GSK-3beta signaling pathway.", "journal": "Journal of cell communication and signaling", "date": "2013", "authors": "Moe IT, Pham TA, Hagelin EM, Ahmed MS, Attramadal H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23208610", "url": "https://glygen.org/publication/PubMed/23208610" } ] }, { "title": "Hepatocyte growth factor increases vascular endothelial growth factor-A production in human synovial fibroblasts through c-Met receptor pathway.", "journal": "PloS one", "date": "2012", "authors": "Lin YM, Huang YL, Fong YC, Tsai CH, Chou MC, Tang CH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23209838", "url": "https://glygen.org/publication/PubMed/23209838" } ] }, { "title": "Dominant-negative effects of LRRK2 heterodimers: a possible mechanism of neurodegeneration in Parkinson's disease caused by LRRK2 I2020T mutation.", "journal": "Biochemical and biophysical research communications", "date": "2013", "authors": "Ohta E, Kawakami F, Kubo M, Obata F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23220480", "url": "https://glygen.org/publication/PubMed/23220480" } ] }, { "title": "Targeting TORC1/2 enhances sensitivity to EGFR inhibitors in head and neck cancer preclinical models.", "journal": "Neoplasia (New York, N.Y.)", "date": "2012-11", "authors": "Cassell Andre, Freilino Maria L, Lee Jessica, Barr Sharon, Wang Lin, Panahandeh Mary C, Thomas Sufi M, Grandis Jennifer R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23226094", "url": "https://glygen.org/publication/PubMed/23226094" } ] }, { "title": "Functional analysis of non-hotspot AKT1 mutants found in human breast cancers identifies novel driver mutations: implications for personalized medicine.", "journal": "Oncotarget", "date": "2013-01", "authors": "Yi Kyung H, Axtmayer Jossette, Gustin John P, Rajpurohit Anandita, Lauring Josh", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23237847", "url": "https://glygen.org/publication/PubMed/23237847" } ] }, { "title": "Activation of Akt, mTOR, and the estrogen receptor as a signature to predict tamoxifen treatment benefit.", "journal": "Breast cancer research and treatment", "date": "2013", "authors": "Bostner J, Karlsson E, Pandiyan MJ, Westman H, Skoog L, Fornander T, Nordenskjold B, Stal O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23242584", "url": "https://glygen.org/publication/PubMed/23242584" } ] }, { "title": "Apolipoprotein(a) stimulates nuclear translocation of beta-catenin: a novel pathogenic mechanism for lipoprotein(a).", "journal": "Molecular biology of the cell", "date": "2013", "authors": "Cho T, Romagnuolo R, Scipione C, Boffa MB, Koschinsky ML", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23243000", "url": "https://glygen.org/publication/PubMed/23243000" } ] }, { "title": "Differential chemoattractant response in adipocytes and macrophages to the action of acylation stimulating protein.", "journal": "European journal of cell biology", "date": "2013-02", "authors": "Tom Fun-Qun, Gauvreau Danny, Lapointe Marc, Lu HuiLing, Poursharifi Pegah, Luo Xiao-Ping, Cianflone Katherine", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23245988", "url": "https://glygen.org/publication/PubMed/23245988" } ] }, { "title": "DARPP32, STAT5 and STAT3 mRNA expression ratios in glioblastomas are associated with patient outcome.", "journal": "Pathology oncology research : POR", "date": "2013-04", "authors": "Televantou Despina, Karkavelas George, Hytiroglou Prodromos, Lampaki Sofia, Iliadis George, Selviaridis Panagiotis, Polyzoidis Konstantinos S, Fountzilas George, Kotoula Vassiliki", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23250732", "url": "https://glygen.org/publication/PubMed/23250732" } ] }, { "title": "Inhibition of rapamycin-induced Akt phosphorylation by cotylenin A correlates with their synergistic growth inhibition of cancer cells.", "journal": "International journal of oncology", "date": "2013", "authors": "Kasukabe T, Okabe-Kado J, Haranosono Y, Kato N, Honma Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23255002", "url": "https://glygen.org/publication/PubMed/23255002" } ] }, { "title": "NF-kappaB is activated in response to temozolomide in an AKT-dependent manner and confers protection against the growth suppressive effect of the drug.", "journal": "Journal of translational medicine", "date": "2012", "authors": "Caporali S, Levati L, Graziani G, Muzi A, Atzori MG, Bonmassar E, Palmieri G, Ascierto PA, D'Atri S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23259744", "url": "https://glygen.org/publication/PubMed/23259744" } ] }, { "title": "Absence of signaling into CD4(+) cells via C3aR and C5aR enables autoinductive TGF-beta1 signaling and induction of Foxp3(+) regulatory T cells.", "journal": "Nature immunology", "date": "2013", "authors": "Strainic MG, Shevach EM, An F, Lin F, Medof ME", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23263555", "url": "https://glygen.org/publication/PubMed/23263555" } ] }, { "title": "Receptor-recognized alpha(2)-macroglobulin binds to cell surface-associated GRP78 and activates mTORC1 and mTORC2 signaling in prostate cancer cells.", "journal": "PloS one", "date": "2012", "authors": "Misra UK, Pizzo SV", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23272152", "url": "https://glygen.org/publication/PubMed/23272152" } ] }, { "title": "Electrical stimuli release ATP to increase GLUT4 translocation and glucose uptake via PI3Kgamma-Akt-AS160 in skeletal muscle cells.", "journal": "Diabetes", "date": "2013", "authors": "Osorio-Fuentealba C, Contreras-Ferrat AE, Altamirano F, Espinosa A, Li Q, Niu W, Lavandero S, Klip A, Jaimovich E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23274898", "url": "https://glygen.org/publication/PubMed/23274898" } ] }, { "title": "Fo Shou San, an ancient Chinese herbal decoction, protects endothelial function through increasing endothelial nitric oxide synthase activity.", "journal": "PloS one", "date": "2012", "authors": "Bi Cathy W C, Xu Li, Tian Xiao Yu, Liu Jian, Zheng Ken Y Z, Lau Chi Wai, Lau David T W, Choi Roy C Y, Dong Tina T X, Huang Yu, Tsim Karl W K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23284736", "url": "https://glygen.org/publication/PubMed/23284736" } ] }, { "title": "Green tea polyphenols induce p53-dependent and p53-independent apoptosis in prostate cancer cells through two distinct mechanisms.", "journal": "PloS one", "date": "2012", "authors": "Gupta K, Thakur VS, Bhaskaran N, Nawab A, Babcook MA, Jackson MW, Gupta S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23285096", "url": "https://glygen.org/publication/PubMed/23285096" } ] }, { "title": "Suppressive oligodeoxynucleotides synergistically enhance antiproliferative effects of anticancer drugs in A549 human lung cancer cells.", "journal": "International journal of oncology", "date": "2013", "authors": "Takahashi R, Sato T, Klinman DM, Shimosato T, Kaneko T, Ishigatsubo Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23291718", "url": "https://glygen.org/publication/PubMed/23291718" } ] }, { "title": "BSTA promotes mTORC2-mediated phosphorylation of Akt1 to suppress expression of FoxC2 and stimulate adipocyte differentiation.", "journal": "Sci. Signal.", "date": "2013", "authors": "Yao Y, Suraokar M, Darnay BG, Hollier BG, Shaiken TE, Asano T, Chen CH, Chang BH, Lu Y, Mills GB, Sarbassov D, Mani SA, Abbruzzese JL, Reddy SA", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23300339", "url": "https://glygen.org/publication/PubMed/23300339" } ] }, { "title": "HSP70 enhances immunosuppressive function of CD4(+)CD25(+)FoxP3(+) T regulatory cells and cytotoxicity in CD4(+)CD25(-) T cells.", "journal": "PloS one", "date": "2012", "authors": "Wachstein Julian, Tischer Sabine, Figueiredo Constanca, Limbourg Anne, Falk Christine, Immenschuh Stephan, Blasczyk Rainer, Eiz-Vesper Britta", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23300563", "url": "https://glygen.org/publication/PubMed/23300563" } ] }, { "title": "ERG transcriptional networks in primary acute leukemia cells implicate a role for ERG in deregulated kinase signaling.", "journal": "PloS one", "date": "2013", "authors": "Bock J, Mochmann LH, Schlee C, Farhadi-Sartangi N, Gollner S, Muller-Tidow C, Baldus CD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23300998", "url": "https://glygen.org/publication/PubMed/23300998" } ] }, { "title": "AKT isoforms 1 and 3 regulate basal and epidermal growth factor-stimulated SGHPL-5 trophoblast cell migration in humans.", "journal": "Biology of reproduction", "date": "2013", "authors": "Haslinger P, Haider S, Sonderegger S, Otten JV, Pollheimer J, Whitley G, Knofler M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23303682", "url": "https://glygen.org/publication/PubMed/23303682" } ] }, { "title": "Enhanced antitumor effect of YM872 and AG1296 combination treatment on human glioblastoma xenograft models.", "journal": "Journal of neurosurgery", "date": "2013", "authors": "Watanabe T, Ohtani T, Aihara M, Ishiuchi S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23311938", "url": "https://glygen.org/publication/PubMed/23311938" } ] }, { "title": "Molecular dissection of AKT activation in lung cancer cell lines.", "journal": "Molecular cancer research : MCR", "date": "2013", "authors": "Guo Y, Du J, Kwiatkowski DJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23319332", "url": "https://glygen.org/publication/PubMed/23319332" } ] }, { "title": "Pharmacological inhibition of mTORC1 prevents over-activation of the primordial follicle pool in response to elevated PI3K signaling.", "journal": "PloS one", "date": "2013", "authors": "Adhikari D, Risal S, Liu K, Shen Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23326514", "url": "https://glygen.org/publication/PubMed/23326514" } ] }, { "title": "CCN4 induces IL-6 production through alphavbeta5 receptor, PI3K, Akt, and NF-kappaB singling pathway in human synovial fibroblasts.", "journal": "Arthritis research & therapy", "date": "2013", "authors": "Hou CH, Tang CH, Hsu CJ, Hou SM, Liu JF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23343403", "url": "https://glygen.org/publication/PubMed/23343403" } ] }, { "title": "Homocysteine inhibits hepatocyte proliferation via endoplasmic reticulum stress.", "journal": "PloS one", "date": "2013", "authors": "Yu Xue, Lv Jiajun, Zhu Yunzhen, Duan Liping, Ma Lanqing", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23349842", "url": "https://glygen.org/publication/PubMed/23349842" } ] }, { "title": "Control of human endometrial stromal cell motility by PDGF-BB, HB-EGF and trophoblast-secreted factors.", "journal": "PloS one", "date": "2013", "authors": "Schwenke Maren, Kn\u00f6fler Martin, Velicky Philipp, Weimar Charlotte H E, Kruse Michelle, Samalecos Annemarie, Wolf Anja, Macklon Nick S, Bamberger Ana-Maria, Gellersen Birgit", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23349855", "url": "https://glygen.org/publication/PubMed/23349855" } ] }, { "title": "A comparison of Ku0063794, a dual mTORC1 and mTORC2 inhibitor, and temsirolimus in preclinical renal cell carcinoma models.", "journal": "PloS one", "date": "2013", "authors": "Zhang Hao, Berel Dror, Wang Yanping, Li Ping, Bhowmick Neil A, Figlin Robert A, Kim Hyung L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23349989", "url": "https://glygen.org/publication/PubMed/23349989" } ] }, { "title": "AKT collaborates with ERG and Gata1s to dysregulate megakaryopoiesis and promote AMKL.", "journal": "Leukemia", "date": "2013", "authors": "Stankiewicz MJ, Crispino JD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23380710", "url": "https://glygen.org/publication/PubMed/23380710" } ] }, { "title": "MMP-2 suppression abrogates irradiation-induced microtubule formation in endothelial cells by inhibiting \u03b1v\u03b23-mediated SDF-1/CXCR4 signaling.", "journal": "International journal of oncology", "date": "2013-04", "authors": "Maddirela Dilip Rajasekhar, Kesanakurti Divya, Gujrati Meena, Rao Jasti S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23381805", "url": "https://glygen.org/publication/PubMed/23381805" } ] }, { "title": "Integrity of p53 associated pathways determines induction of apoptosis of tumor cells resistant to Aurora-A kinase inhibitors.", "journal": "PloS one", "date": "2013", "authors": "Shionome Yoshimi, Yan Li, Liu Song, Saeki Toshiaki, Ouchi Toru", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23383195", "url": "https://glygen.org/publication/PubMed/23383195" } ] }, { "title": "Nexilin, a cardiomyopathy-associated F-actin binding protein, binds and regulates IRS1 signaling in skeletal muscle cells.", "journal": "PloS one", "date": "2013", "authors": "Lee A, Hakuno F, Northcott P, Pessin JE, Rozakis Adcock M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23383252", "url": "https://glygen.org/publication/PubMed/23383252" } ] }, { "title": "Epidermal growth factor protects squamous cell carcinoma against cisplatin-induced cytotoxicity through increased interleukin-1beta expression.", "journal": "PloS one", "date": "2013", "authors": "Ko SC, Huang CR, Shieh JM, Yang JH, Chang WC, Chen BK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23383347", "url": "https://glygen.org/publication/PubMed/23383347" } ] }, { "title": "Sulforaphane inhibits growth of phenotypically different breast cancer cells.", "journal": "European journal of nutrition", "date": "2013-12", "authors": "Pawlik Anna, Wiczk Aleksandra, Kaczy\u0144ska Angelika, Antosiewicz J\u0119drzej, Herman-Antosiewicz Anna", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23389114", "url": "https://glygen.org/publication/PubMed/23389114" } ] }, { "title": "Site-specific activation of AKT protects cells from death induced by glucose deprivation.", "journal": "Oncogene", "date": "2014", "authors": "Gao M, Liang J, Lu Y, Guo H, German P, Bai S, Jonasch E, Yang X, Mills GB, Ding Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23396361", "url": "https://glygen.org/publication/PubMed/23396361" } ] }, { "title": "Overexpression of p65 attenuates celecoxib-induced cell death in MDA-MB-231 human breast cancer cell line.", "journal": "Cancer cell international", "date": "2013", "authors": "Wang L, Kang F, Li J, Zhang J, Shan B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23402310", "url": "https://glygen.org/publication/PubMed/23402310" } ] }, { "title": "Multiple genetic alterations within the PI3K pathway are responsible for AKT activation in patients with ovarian carcinoma.", "journal": "PloS one", "date": "2013", "authors": "De Marco Carmela, Rinaldo Nicola, Bruni Paola, Malzoni Carmine, Zullo Fulvio, Fabiani Fernanda, Losito Simona, Scrima Marianna, Marino Federica Zito, Franco Renato, Quintiero Alfina, Agosti Valter, Viglietto Giuseppe", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23408974", "url": "https://glygen.org/publication/PubMed/23408974" } ] }, { "title": "Suppression of natural killer cells by sorafenib contributes to prometastatic effects in hepatocellular carcinoma.", "journal": "PloS one", "date": "2013", "authors": "Zhang QB, Sun HC, Zhang KZ, Jia QA, Bu Y, Wang M, Chai ZT, Zhang QB, Wang WQ, Kong LQ, Zhu XD, Lu L, Wu WZ, Wang L, Tang ZY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23409093", "url": "https://glygen.org/publication/PubMed/23409093" } ] }, { "title": "SNS-032 inhibits mTORC1/mTORC2 activity in acute myeloid leukemia cells and has synergistic activity with perifosine against Akt.", "journal": "Journal of hematology & oncology", "date": "2013-02-18", "authors": "Meng Haitao, Jin Yingming, Liu Hui, You Liangshun, Yang Chunmei, Yang Xue, Qian Wenbin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23415012", "url": "https://glygen.org/publication/PubMed/23415012" } ] }, { "title": "Type I interferons induce autophagy in certain human cancer cell lines.", "journal": "Autophagy", "date": "2013", "authors": "Schmeisser H, Fey SB, Horowitz J, Fischer ER, Balinsky CA, Miyake K, Bekisz J, Snow AL, Zoon KC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23419269", "url": "https://glygen.org/publication/PubMed/23419269" } ] }, { "title": "The level of phosphorylated Akt predominantly reflects the expressive status of CerbB2 in invasive breast cancer.", "journal": "Histology and histopathology", "date": "2013", "authors": "Chi Y, Zhao J, Cui SP, Jiang P, Wang HL, Zhang H, Mao JZ, Liu HJ, Hou L, Zhang B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23420345", "url": "https://glygen.org/publication/PubMed/23420345" } ] }, { "title": "Synergistic lethality of mifepristone and LY294002 in ovarian cancer cells.", "journal": "Cancer growth and metastasis", "date": "2013", "authors": "Wempe SL, Gamarra-Luques CD, Telleria CM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23420486", "url": "https://glygen.org/publication/PubMed/23420486" } ] }, { "title": "TWIST interacts with endothelin-1/endothelin A receptor signaling in osteosarcoma cell survival against cisplatin.", "journal": "Oncology letters", "date": "2013", "authors": "Zhou Y, Zang X, Huang Z, Zhang C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23426781", "url": "https://glygen.org/publication/PubMed/23426781" } ] }, { "title": "Regulation of mRNA export by the PI3 kinase/AKT signal transduction pathway.", "journal": "Molecular biology of the cell", "date": "2013", "authors": "Quaresma AJ, Sievert R, Nickerson JA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23427269", "url": "https://glygen.org/publication/PubMed/23427269" } ] }, { "title": "Selective Akt inhibitors synergize with tyrosine kinase inhibitors and effectively override stroma-associated cytoprotection of mutant FLT3-positive AML cells.", "journal": "PloS one", "date": "2013", "authors": "Weisberg E, Liu Q, Zhang X, Nelson E, Sattler M, Liu F, Nicolais M, Zhang J, Mitsiades C, Smith RW, Stone R, Galinsky I, Nonami A, Griffin JD, Gray N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23437141", "url": "https://glygen.org/publication/PubMed/23437141" } ] }, { "title": "Skeletal muscle insulin resistance associated with cholesterol-induced activation of macrophages is prevented by high density lipoprotein.", "journal": "PloS one", "date": "2013", "authors": "Carey Andrew L, Siebel Andrew L, Reddy-Luthmoodoo Medini, Natoli Alaina K, D'Souza Wilissa, Meikle Peter J, Sviridov Dmitri, Drew Brian G, Kingwell Bronwyn A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23437184", "url": "https://glygen.org/publication/PubMed/23437184" } ] }, { "title": "Different patterns of Akt and ERK feedback activation in response to rapamycin, active-site mTOR inhibitors and metformin in pancreatic cancer cells.", "journal": "PloS one", "date": "2013", "authors": "Soares Heloisa P, Ni Yang, Kisfalvi Krisztina, Sinnett-Smith James, Rozengurt Enrique", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23437362", "url": "https://glygen.org/publication/PubMed/23437362" } ] }, { "title": "SGT1 regulates Akt signaling by promoting beta-TrCP-dependent PHLPP1 degradation in gastric cancer cells.", "journal": "Molecular biology reports", "date": "2013", "authors": "Gao G, Kun T, Sheng Y, Qian M, Kong F, Liu X, Yu Z, Zhang H, Zhang Q, Gu J, Zhang X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23440515", "url": "https://glygen.org/publication/PubMed/23440515" } ] }, { "title": "The antiproliferative effect of indomethacin-loaded lipid-core nanocapsules in glioma cells is mediated by cell cycle regulation, differentiation, and the inhibition of survival pathways.", "journal": "International journal of nanomedicine", "date": "2013", "authors": "Bernardi A, Frozza RL, Hoppe JB, Salbego C, Pohlmann AR, Battastini AM, Guterres SS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23440594", "url": "https://glygen.org/publication/PubMed/23440594" } ] }, { "title": "Caspase-3 mediated release of SAC domain containing fragment from Par-4 is necessary for the sphingosine-induced apoptosis in Jurkat cells.", "journal": "Journal of molecular signaling", "date": "2013-02-27", "authors": "Thayyullathil Faisal, Pallichankandy Siraj, Rahman Anees, Kizhakkayil Jaleel, Chathoth Shahanas, Patel Mahendra, Galadari Sehamuddin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23442976", "url": "https://glygen.org/publication/PubMed/23442976" } ] }, { "title": "MiR-218 impairs tumor growth and increases chemo-sensitivity to cisplatin in cervical cancer.", "journal": "International journal of molecular sciences", "date": "2012-11-28", "authors": "Li Jiarui, Ping Zhang, Ning Hui", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23443110", "url": "https://glygen.org/publication/PubMed/23443110" } ] }, { "title": "Caveolin-1 regulates endothelial adhesion of lung cancer cells via reactive oxygen species-dependent mechanism.", "journal": "PloS one", "date": "2013", "authors": "Chanvorachote Pithi, Chunhacha Preedakorn", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23460862", "url": "https://glygen.org/publication/PubMed/23460862" } ] }, { "title": "A maternal diet rich in fish oil may improve cardiac Akt-related signaling in the offspring of diabetic mother rats.", "journal": "Nutrition (Burbank, Los Angeles County, Calif.)", "date": "2013", "authors": "Nasu-Kawaharada R, Nakamura A, Kakarla SK, Blough ER, Kohama K, Kohama T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23466053", "url": "https://glygen.org/publication/PubMed/23466053" } ] }, { "title": "Anti-tumor effects of Ganoderma lucidum (reishi) in inflammatory breast cancer in in vivo and in vitro models.", "journal": "PloS one", "date": "2013", "authors": "Suarez-Arroyo IJ, Rosario-Acevedo R, Aguilar-Perez A, Clemente PL, Cubano LA, Serrano J, Schneider RJ, Martinez-Montemayor MM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23468988", "url": "https://glygen.org/publication/PubMed/23468988" } ] }, { "title": "InterAKTions with FKBPs--mutational and pharmacological exploration.", "journal": "PloS one", "date": "2013", "authors": "Fabian AK, Marz A, Neimanis S, Biondi RM, Kozany C, Hausch F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23469007", "url": "https://glygen.org/publication/PubMed/23469007" } ] }, { "title": "AKT signalling and mitochondrial pathways are involved in mushroom polysaccharide-induced apoptosis and G1 or S phase arrest in human hepatoma cells.", "journal": "Food chemistry", "date": "2013-06-15", "authors": "OuYang Fengju, Wang Guibin, Guo Wei, Zhang Yuanyuan, Xiang Wenhua, Zhao Min", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23497867", "url": "https://glygen.org/publication/PubMed/23497867" } ] }, { "title": "Prednisolone induces the Wnt signalling pathway in 3T3-L1 adipocytes.", "journal": "Archives of physiology and biochemistry", "date": "2013-05", "authors": "Fleuren Wilco W M, Linssen Margot M L, Toonen Erik J M, van der Zon Gerard C M, Guigas Bruno, de Vlieg Jacob, Dokter Wim H A, Ouwens D Margriet, Alkema Wynand", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23506355", "url": "https://glygen.org/publication/PubMed/23506355" } ] }, { "title": "Coenzyme Q10 restores amyloid beta-inhibited proliferation of neural stem cells by activating the PI3K pathway.", "journal": "Stem cells and development", "date": "2013-08-01", "authors": "Choi Hojin, Park Hyun-Hee, Lee Kyu-Yong, Choi Na-Young, Yu Hyun-Jeung, Lee Young Joo, Park Jinse, Huh Yong-Min, Lee Sang-Hun, Koh Seong-Ho", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23509892", "url": "https://glygen.org/publication/PubMed/23509892" } ] }, { "title": "TRAIL and proteasome inhibitors combination induces a robust apoptosis in human malignant pleural mesothelioma cells through Mcl-1 and Akt protein cleavages.", "journal": "BMC cancer", "date": "2013", "authors": "Yuan BZ, Chapman J, Ding M, Wang J, Jiang B, Rojanasakul Y, Reynolds SH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23517112", "url": "https://glygen.org/publication/PubMed/23517112" } ] }, { "title": "Positive regulation of insulin signaling by neuraminidase 1.", "journal": "Diabetes", "date": "2013-07", "authors": "Dridi Larbi, Seyrantepe Volkan, Fougerat Anne, Pan Xuefang, Bonneil Eric, Thibault Pierre, Moreau Allain, Mitchell Grant A, Heveker Nikolaus, Cairo Christopher W, Issad Tarik, Hinek Alexander, Pshezhetsky Alexey V", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23520133", "url": "https://glygen.org/publication/PubMed/23520133" } ] }, { "title": "Low shear stress induces human vascular endothelial cell apoptosis by activating Akt signal and increasing reactive oxygen species.", "journal": "Nan fang yi ke da xue xue bao = Journal of Southern Medical University", "date": "2013", "authors": "Zhang J, Wang Z, Zuo G, Li B, Zhang J, Tian N, Chen S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23529222", "url": "https://glygen.org/publication/PubMed/23529222" } ] }, { "title": "Activation of the AKT/cyclin D1/Cdk4 survival signaling pathway in radioresistant cancer stem cells.", "journal": "Oncogenesis", "date": "2012", "authors": "Shimura T, Noma N, Oikawa T, Ochiai Y, Kakuda S, Kuwahara Y, Takai Y, Takahashi A, Fukumoto M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23552696", "url": "https://glygen.org/publication/PubMed/23552696" } ] }, { "title": "Expression and secretion of human proinsulin-B10 from mouse salivary glands: implications for the treatment of type I diabetes mellitus.", "journal": "PloS one", "date": "2013", "authors": "Rowzee AM, Perez-Riveros PJ, Zheng C, Krygowski S, Baum BJ, Cawley NX", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23554999", "url": "https://glygen.org/publication/PubMed/23554999" } ] }, { "title": "Critical role of H2O2 generated by NOX4 during cellular response under glucose deprivation.", "journal": "PloS one", "date": "2013", "authors": "Owada Satoshi, Shimoda Yuko, Tsuchihara Katsuya, Esumi Hiroyasu", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23555559", "url": "https://glygen.org/publication/PubMed/23555559" } ] }, { "title": "Targeting the Vav3 oncogene enhances docetaxel-induced apoptosis through the inhibition of androgen receptor phosphorylation in LNCaP prostate cancer cells under chronic hypoxia.", "journal": "Molecular cancer", "date": "2013", "authors": "Nomura T, Yamasaki M, Hirai K, Inoue T, Sato R, Matsuura K, Moriyama M, Sato F, Mimata H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23566222", "url": "https://glygen.org/publication/PubMed/23566222" } ] }, { "title": "The impact of cysteine-rich intestinal protein 1 (CRIP1) in human breast cancer.", "journal": "Molecular cancer", "date": "2013", "authors": "Ludyga N, Englert S, Pflieger K, Rauser S, Braselmann H, Walch A, Auer G, Hofler H, Aubele M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23570421", "url": "https://glygen.org/publication/PubMed/23570421" } ] }, { "title": "MACC1 down-regulation inhibits proliferation and tumourigenicity of nasopharyngeal carcinoma cells through Akt/beta-catenin signaling pathway.", "journal": "PloS one", "date": "2013", "authors": "Meng F, Li H, Shi H, Yang Q, Zhang F, Yang Y, Kang L, Zhen T, Dai S, Dong Y, Han A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23573286", "url": "https://glygen.org/publication/PubMed/23573286" } ] }, { "title": "Novel monofunctional platinum (II) complex Mono-Pt induces apoptosis-independent autophagic cell death in human ovarian carcinoma cells, distinct from cisplatin.", "journal": "Autophagy", "date": "2013", "authors": "Guo WJ, Zhang YM, Zhang L, Huang B, Tao FF, Chen W, Guo ZJ, Xu Q, Sun Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23580233", "url": "https://glygen.org/publication/PubMed/23580233" } ] }, { "title": "Targeting PI3K/Akt represses Hypoxia inducible factor-1alpha activation and sensitizes Rhabdomyosarcoma and Ewing's sarcoma cells for apoptosis.", "journal": "Cancer cell international", "date": "2013", "authors": "Kilic-Eren M, Boylu T, Tabor V", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23590596", "url": "https://glygen.org/publication/PubMed/23590596" } ] }, { "title": "Podocalyxin regulates astrocytoma cell invasion and survival against temozolomide.", "journal": "Experimental and therapeutic medicine", "date": "2013", "authors": "Wu H, Yang L, Liao D, Chen Y, Wang W, Fang J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23596468", "url": "https://glygen.org/publication/PubMed/23596468" } ] }, { "title": "Role of PI3K-AKT-mTOR and Wnt Signaling Pathways in Transition of G1-S Phase of Cell Cycle in Cancer Cells.", "journal": "Frontiers in oncology", "date": "2013", "authors": "Vadlakonda L, Pasupuleti M, Pallu R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23596569", "url": "https://glygen.org/publication/PubMed/23596569" } ] }, { "title": "Impaired expression of protein phosphatase 2A subunits enhances metastatic potential of human prostate cancer cells through activation of AKT pathway.", "journal": "British journal of cancer", "date": "2013-06-25", "authors": "Pandey P, Seshacharyulu P, Das S, Rachagani S, Ponnusamy M P, Yan Y, Johansson S L, Datta K, Fong Lin M, Batra S K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23598299", "url": "https://glygen.org/publication/PubMed/23598299" } ] }, { "title": "AKT activation by N-cadherin regulates beta-catenin signaling and neuronal differentiation during cortical development.", "journal": "Neural development", "date": "2013", "authors": "Zhang J, Shemezis JR, McQuinn ER, Wang J, Sverdlov M, Chenn A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23618343", "url": "https://glygen.org/publication/PubMed/23618343" } ] }, { "title": "Participation of PI3-kinase/Akt signalling in insulin stimulation of p34cdc2 activation in zebrafish oocyte: phosphodiesterase 3 as a potential downstream target.", "journal": "Molecular and cellular endocrinology", "date": "2013", "authors": "Das D, Khan PP, Maitra S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23623869", "url": "https://glygen.org/publication/PubMed/23623869" } ] }, { "title": "Progesterone utilizes the PI3K-AKT pathway in human spermatozoa to regulate motility and hyperactivation but not acrosome reaction.", "journal": "Molecular and cellular endocrinology", "date": "2013", "authors": "Sagare-Patil V, Vernekar M, Galvankar M, Modi D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23623968", "url": "https://glygen.org/publication/PubMed/23623968" } ] }, { "title": "Metformin inhibits growth and enhances radiation response of non-small cell lung cancer (NSCLC) through ATM and AMPK.", "journal": "British journal of cancer", "date": "2013", "authors": "Storozhuk Y, Hopmans SN, Sanli T, Barron C, Tsiani E, Cutz JC, Pond G, Wright J, Singh G, Tsakiridis T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23632475", "url": "https://glygen.org/publication/PubMed/23632475" } ] }, { "title": "Natural and inducible TH17 cells are regulated differently by Akt and mTOR pathways.", "journal": "Nature immunology", "date": "2013", "authors": "Kim JS, Sklarz T, Banks LB, Gohil M, Waickman AT, Skuli N, Krock BL, Luo CT, Hu W, Pollizzi KN, Li MO, Rathmell JC, Birnbaum MJ, Powell JD, Jordan MS, Koretzky GA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23644504", "url": "https://glygen.org/publication/PubMed/23644504" } ] }, { "title": "Novel insulin sensitizer modulates nutrient sensing pathways and maintains beta-cell phenotype in human islets.", "journal": "PloS one", "date": "2013", "authors": "Rohatgi N, Aly H, Marshall CA, McDonald WG, Kletzien RF, Colca JR, McDaniel ML", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23650507", "url": "https://glygen.org/publication/PubMed/23650507" } ] }, { "title": "Resistin promotes the expression of vascular endothelial growth factor in ovary carcinoma cells.", "journal": "International journal of molecular sciences", "date": "2013", "authors": "Pang L, Zhang Y, Yu Y, Zhang S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23652833", "url": "https://glygen.org/publication/PubMed/23652833" } ] }, { "title": "Phosphorylation accelerates geldanamycin-induced Akt degradation.", "journal": "Archives of biochemistry and biophysics", "date": "2013", "authors": "Su CH, Lan KH, Li CP, Chao Y, Lin HC, Lee SD, Lee WP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23668972", "url": "https://glygen.org/publication/PubMed/23668972" } ] }, { "title": "Pterostilbene exerts antitumor activity via the Notch1 signaling pathway in human lung adenocarcinoma cells.", "journal": "PloS one", "date": "2013", "authors": "Yang Y, Yan X, Duan W, Yan J, Yi W, Liang Z, Wang N, Li Y, Chen W, Yu S, Jin Z, Yi D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23671619", "url": "https://glygen.org/publication/PubMed/23671619" } ] }, { "title": "mTOR complex 2 mediates Akt phosphorylation that requires PKCepsilon in adult cardiac muscle cells.", "journal": "Cellular signalling", "date": "2013", "authors": "Moschella PC, McKillop J, Pleasant DL, Harston RK, Balasubramanian S, Kuppuswamy D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23673367", "url": "https://glygen.org/publication/PubMed/23673367" } ] }, { "title": "FAM83B-mediated activation of PI3K/AKT and MAPK signaling cooperates to promote epithelial cell transformation and resistance to targeted therapies.", "journal": "Oncotarget", "date": "2013", "authors": "Cipriano R, Miskimen KL, Bryson BL, Foy CR, Bartel CA, Jackson MW", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23676467", "url": "https://glygen.org/publication/PubMed/23676467" } ] }, { "title": "Inhibition of 14-3-3 binding to Rictor of mTORC2 for Akt phosphorylation at Ser473 is regulated by selenoprotein W.", "journal": "Biochimica et biophysica acta", "date": "2013", "authors": "Jeon YH, Park YH, Kwon JH, Lee JH, Kim IY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23680186", "url": "https://glygen.org/publication/PubMed/23680186" } ] }, { "title": "ERBB4 confers metastatic capacity in Ewing sarcoma.", "journal": "EMBO molecular medicine", "date": "2013", "authors": "Mendoza-Naranjo A, El-Naggar A, Wai DH, Mistry P, Lazic N, Ayala FR, da Cunha IW, Rodriguez-Viciana P, Cheng H, Tavares Guerreiro Fregnani JH, Reynolds P, Arceci RJ, Nicholson A, Triche TJ, Soares FA, Flanagan AM, Wang YZ, Strauss SJ, Sorensen PH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23681745", "url": "https://glygen.org/publication/PubMed/23681745" } ] }, { "title": "PPIP5K1 modulates ligand competition between diphosphoinositol polyphosphates and PtdIns(3,4,5)P3 for polyphosphoinositide-binding domains.", "journal": "The Biochemical journal", "date": "2013", "authors": "Gokhale NA, Zaremba A, Janoshazi AK, Weaver JD, Shears SB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23682967", "url": "https://glygen.org/publication/PubMed/23682967" } ] }, { "title": "Dynamic adipocyte phosphoproteome reveals that Akt directly regulates mTORC2.", "journal": "Cell metabolism", "date": "2013", "authors": "Humphrey SJ, Yang G, Yang P, Fazakerley DJ, Stockli J, Yang JY, James DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23684622", "url": "https://glygen.org/publication/PubMed/23684622" } ] }, { "title": "Induction of epithelial-mesenchymal transition (EMT) in breast cancer cells is calcium signal dependent.", "journal": "Oncogene", "date": "2014", "authors": "Davis FM, Azimi I, Faville RA, Peters AA, Jalink K, Putney JW Jr, Goodhill GJ, Thompson EW, Roberts-Thomson SJ, Monteith GR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23686305", "url": "https://glygen.org/publication/PubMed/23686305" } ] }, { "title": "Activation of Akt pathway by transcription-independent mechanisms of retinoic acid promotes survival and invasion in lung cancer cells.", "journal": "Molecular cancer", "date": "2013", "authors": "Garcia-Regalado A, Vargas M, Garcia-Carranca A, Arechaga-Ocampo E, Gonzalez-De la Rosa CH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23693014", "url": "https://glygen.org/publication/PubMed/23693014" } ] }, { "title": "Butyrate-producing probiotics reduce nonalcoholic fatty liver disease progression in rats: new insight into the probiotics for the gut-liver axis.", "journal": "PloS one", "date": "2013", "authors": "Endo Hitoshi, Niioka Maki, Kobayashi Noriko, Tanaka Mamoru, Watanabe Tetsu", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23696823", "url": "https://glygen.org/publication/PubMed/23696823" } ] }, { "title": "Cell cycle-dependent activity of the novel dual PI3K-MTORC1/2 inhibitor NVP-BGT226 in acute leukemia.", "journal": "Molecular cancer", "date": "2013", "authors": "Kampa-Schittenhelm KM, Heinrich MC, Akmut F, Rasp KH, Illing B, Dohner H, Dohner K, Schittenhelm MM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23705826", "url": "https://glygen.org/publication/PubMed/23705826" } ] }, { "title": "CDK2 and mTOR are direct molecular targets of isoangustone A in the suppression of human prostate cancer cell growth.", "journal": "Toxicology and applied pharmacology", "date": "2013", "authors": "Lee E, Son JE, Byun S, Lee SJ, Kim YA, Liu K, Kim J, Lim SS, Park JH, Dong Z, Lee KW, Lee HJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23707764", "url": "https://glygen.org/publication/PubMed/23707764" } ] }, { "title": "MutS homologue hMSH4: interaction with eIF3f and a role in NHEJ-mediated DSB repair.", "journal": "Molecular cancer", "date": "2013", "authors": "Chu YL, Wu X, Xu Y, Her C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23725059", "url": "https://glygen.org/publication/PubMed/23725059" } ] }, { "title": "Lipid raft-mediated Akt signaling as a therapeutic target in mantle cell lymphoma.", "journal": "Blood cancer journal", "date": "2013-05-31", "authors": "Reis-Sobreiro M, Rou\u00e9 G, Moros A, Gajate C, de la Iglesia-Vicente J, Colomer D, Mollinedo F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23727661", "url": "https://glygen.org/publication/PubMed/23727661" } ] }, { "title": "Acid ceramidase induces sphingosine kinase 1/S1P receptor 2-mediated activation of oncogenic Akt signaling.", "journal": "Oncogenesis", "date": "2013", "authors": "Beckham TH, Cheng JC, Lu P, Shao Y, Troyer D, Lance R, Marrison ST, Norris JS, Liu X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23732709", "url": "https://glygen.org/publication/PubMed/23732709" } ] }, { "title": "AKT is a therapeutic target in myeloproliferative neoplasms.", "journal": "Leukemia", "date": "2013", "authors": "Khan I, Huang Z, Wen Q, Stankiewicz MJ, Gilles L, Goldenson B, Schultz R, Diebold L, Gurbuxani S, Finke CM, Lasho TL, Koppikar P, Pardanani A, Stein B, Altman JK, Levine RL, Tefferi A, Crispino JD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23748344", "url": "https://glygen.org/publication/PubMed/23748344" } ] }, { "title": "Mefloquine exerts anticancer activity in prostate cancer cells via ROS-mediated modulation of Akt, ERK, JNK and AMPK signaling.", "journal": "Oncology letters", "date": "2013-05", "authors": "Yan Kun-Huang, Yao Chih-Jung, Hsiao Chi-Hao, Lin Ke-Hsun, Lin Yung-Wei, Wen Yu-Ching, Liu Chung-Chi, Yan Ming-DE, Chuang Shuang-En, Lai Gi-Ming, Lee Liang-Ming", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23760395", "url": "https://glygen.org/publication/PubMed/23760395" } ] }, { "title": "Interaction between NBS1 and the mTOR/Rictor/SIN1 complex through specific domains.", "journal": "PloS one", "date": "2013", "authors": "Wang JQ, Chen JH, Chen YC, Chen MY, Hsieh CY, Teng SC, Wu KJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23762398", "url": "https://glygen.org/publication/PubMed/23762398" } ] }, { "title": "Cannabinoids inhibit energetic metabolism and induce AMPK-dependent autophagy in pancreatic cancer cells.", "journal": "Cell death & disease", "date": "2013", "authors": "Dando I, Donadelli M, Costanzo C, Dalla Pozza E, D'Alessandro A, Zolla L, Palmieri M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23764845", "url": "https://glygen.org/publication/PubMed/23764845" } ] }, { "title": "Apigenin up-regulates transgelin and inhibits invasion and migration of colorectal cancer through decreased phosphorylation of AKT.", "journal": "The Journal of nutritional biochemistry", "date": "2013-10", "authors": "Chunhua Li, Donglan Lin, Xiuqiong Fu, Lihua Zhang, Qin Fan, Yawei Liu, Liang Zhao, Ge Wen, Linlin Jing, Ping Zeng, Kun Li, Xuegang Sun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23773626", "url": "https://glygen.org/publication/PubMed/23773626" } ] }, { "title": "A novel strategy to increase the proliferative potential of adult human beta-cells while maintaining their differentiated phenotype.", "journal": "PloS one", "date": "2013", "authors": "Aly H, Rohatgi N, Marshall CA, Grossenheider TC, Miyoshi H, Stappenbeck TS, Matkovich SJ, McDaniel ML", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23776620", "url": "https://glygen.org/publication/PubMed/23776620" } ] }, { "title": "Hypoxia-induced cytotoxic drug resistance in osteosarcoma is independent of HIF-1Alpha.", "journal": "PloS one", "date": "2013", "authors": "Adamski J, Price A, Dive C, Makin G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23785417", "url": "https://glygen.org/publication/PubMed/23785417" } ] }, { "title": "Laminar shear stress upregulates endothelial Ca(2)(+)-activated K(+) channels KCa2.3 and KCa3.1 via a Ca(2)(+)/calmodulin-dependent protein kinase kinase/Akt/p300 cascade.", "journal": "American journal of physiology. Heart and circulatory physiology", "date": "2013", "authors": "Takai J, Santu A, Zheng H, Koh SD, Ohta M, Filimban LM, Lemaitre V, Teraoka R, Jo H, Miura H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23792675", "url": "https://glygen.org/publication/PubMed/23792675" } ] }, { "title": "Folic acid modulates eNOS activity via effects on posttranslational modifications and protein-protein interactions.", "journal": "European journal of pharmacology", "date": "2013-08-15", "authors": "Taylor Sarah Y, Dixon Hannah M, Yoganayagam Shobana, Price Natalie, Lang Derek", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23796957", "url": "https://glygen.org/publication/PubMed/23796957" } ] }, { "title": "CSTP1, a novel protein phosphatase, blocks cell cycle, promotes cell apoptosis, and suppresses tumor growth of bladder cancer by directly dephosphorylating Akt at Ser473 site.", "journal": "PloS one", "date": "2013", "authors": "Zhuo DX, Zhang XW, Jin B, Zhang Z, Xie BS, Wu CL, Gong K, Mao ZB", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23799035", "url": "https://glygen.org/publication/PubMed/23799035" } ] }, { "title": "Autophagy inhibition induces enhanced proapoptotic effects of ZD6474 in glioblastoma.", "journal": "British journal of cancer", "date": "2013-07-09", "authors": "Shen J, Zheng H, Ruan J, Fang W, Li A, Tian G, Niu X, Luo S, Zhao P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23799852", "url": "https://glygen.org/publication/PubMed/23799852" } ] }, { "title": "The Paradox of Akt-mTOR Interactions.", "journal": "Frontiers in oncology", "date": "2013", "authors": "Vadlakonda L, Dash A, Pasupuleti M, Anil Kumar K, Reddanna P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23802099", "url": "https://glygen.org/publication/PubMed/23802099" } ] }, { "title": "[Roles of miR-590-5p and miR-590-3p in the development of hepatocellular carcinoma].", "journal": "Nan fang yi ke da xue xue bao = Journal of Southern Medical University", "date": "2013", "authors": "Yang H, Zheng W, Zhao W, Guan C, An J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23803188", "url": "https://glygen.org/publication/PubMed/23803188" } ] }, { "title": "Involvement of intercellular adhesion molecule-1 up-regulation in bradykinin promotes cell motility in human prostate cancers.", "journal": "International journal of molecular sciences", "date": "2013", "authors": "Yu HS, Lin TH, Tang CH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23803661", "url": "https://glygen.org/publication/PubMed/23803661" } ] }, { "title": "Belinostat and panobinostat (HDACI): in vitro and in vivo studies in thyroid cancer.", "journal": "Journal of cancer research and clinical oncology", "date": "2013", "authors": "Chan D, Zheng Y, Tyner JW, Chng WJ, Chien WW, Gery S, Leong G, Braunstein GD, Koeffler HP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23824064", "url": "https://glygen.org/publication/PubMed/23824064" } ] }, { "title": "Toxoplasma gondii Proliferation Require Down-Regulation of Host Nox4 Expression via Activation of PI3 Kinase/Akt Signaling Pathway.", "journal": "PloS one", "date": "2013", "authors": "Zhou W, Quan JH, Lee YH, Shin DW, Cha GH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23824914", "url": "https://glygen.org/publication/PubMed/23824914" } ] }, { "title": "Autocrine IGF-I/insulin receptor axis compensates for inhibition of AKT in ER-positive breast cancer cells with resistance to estrogen deprivation.", "journal": "Breast cancer research : BCR", "date": "2013", "authors": "Fox EM, Kuba MG, Miller TW, Davies BR, Arteaga CL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23844554", "url": "https://glygen.org/publication/PubMed/23844554" } ] }, { "title": "Distinct single cell signal transduction signatures in leukocyte subsets stimulated with khat extract, amphetamine-like cathinone, cathine or norephedrine.", "journal": "BMC pharmacology & toxicology", "date": "2013", "authors": "Bredholt T, Ersvaer E, Erikstein BS, Sulen A, Reikvam H, Aarstad HJ, Johannessen AC, Vintermyr OK, Bruserud O, Gjertsen BT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23845085", "url": "https://glygen.org/publication/PubMed/23845085" } ] }, { "title": "AKT in stromal fibroblasts controls invasion of epithelial cells.", "journal": "Oncotarget", "date": "2013", "authors": "Cichon AC, Pickard A, McDade SS, Sharpe DJ, Moran M, James JA, McCance DJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23867201", "url": "https://glygen.org/publication/PubMed/23867201" } ] }, { "title": "IKK interacts with rictor and regulates mTORC2.", "journal": "Cellular signalling", "date": "2013", "authors": "Xu Y, Lai E, Liu J, Lin J, Yang C, Jia C, Li Y, Bai X, Li M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23872070", "url": "https://glygen.org/publication/PubMed/23872070" } ] }, { "title": "Calix[6]arene bypasses human pancreatic cancer aggressiveness: downregulation of receptor tyrosine kinases and induction of cell death by reticulum stress and autophagy.", "journal": "Biochimica et biophysica acta", "date": "2013-12", "authors": "Pelizzaro-Rocha Karin Juliane, de Jesus Marcelo Bispo, Ruela-de-Sousa Roberta Regina, Nakamura Celso Vataru, Reis Fabiano Souza, de F\u00e1tima Angelo, Ferreira-Halder Carmen Ver\u00edssima", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23872419", "url": "https://glygen.org/publication/PubMed/23872419" } ] }, { "title": "beta5 integrin up-regulation in brain-derived neurotrophic factor promotes cell motility in human chondrosarcoma.", "journal": "PloS one", "date": "2013", "authors": "Lin CY, Chen HJ, Li TM, Fong YC, Liu SC, Chen PC, Tang CH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23874483", "url": "https://glygen.org/publication/PubMed/23874483" } ] }, { "title": "Ouabain suppresses the migratory behavior of lung cancer cells.", "journal": "PloS one", "date": "2013", "authors": "Pongrakhananon V, Chunhacha P, Chanvorachote P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23874694", "url": "https://glygen.org/publication/PubMed/23874694" } ] }, { "title": "Targeting mTOR to overcome epidermal growth factor receptor tyrosine kinase inhibitor resistance in non-small cell lung cancer cells.", "journal": "PloS one", "date": "2013", "authors": "Fei Shi-Jiang, Zhang Xu-Chao, Dong Song, Cheng Hua, Zhang Yi-Fang, Huang Ling, Zhou Hai-Yu, Xie Zhi, Chen Zhi-Hong, Wu Yi-Long", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23874880", "url": "https://glygen.org/publication/PubMed/23874880" } ] }, { "title": "The interaction between C35 and \u0394Np73 promotes chemo-resistance in ovarian cancer cells.", "journal": "British journal of cancer", "date": "2013-08-20", "authors": "Leung T H-Y, Wong S C-S, Chan K K-L, Chan D W, Cheung A N-Y, Ngan H Y-S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23880825", "url": "https://glygen.org/publication/PubMed/23880825" } ] }, { "title": "Activation of AMPK/TSC2/PLD by alcohol regulates mTORC1 and mTORC2 assembly in C2C12 myocytes.", "journal": "Alcoholism, clinical and experimental research", "date": "2013-11", "authors": "Hong-Brown Ly Q, Brown C Randell, Navaratnarajah Maithili, Lang Charles H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23895284", "url": "https://glygen.org/publication/PubMed/23895284" } ] }, { "title": "MK-2206 causes growth suppression and reduces neuroendocrine tumor marker production in medullary thyroid cancer through Akt inhibition.", "journal": "Annals of surgical oncology", "date": "2013", "authors": "Burke JF, Schlosser L, Harrison AD, Kunnimalaiyaan M, Chen H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23900743", "url": "https://glygen.org/publication/PubMed/23900743" } ] }, { "title": "PTEN loss mediated Akt activation promotes prostate tumor growth and metastasis via CXCL12/CXCR4 signaling.", "journal": "Molecular cancer", "date": "2013", "authors": "Conley-LaComb MK, Saliganan A, Kandagatla P, Chen YQ, Cher ML, Chinni SR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23902739", "url": "https://glygen.org/publication/PubMed/23902739" } ] }, { "title": "GNAQ and BRAF mutations show differential activation of the mTOR pathway in human transformed cells.", "journal": "PeerJ", "date": "2013", "authors": "P\u00f3pulo Helena, Tavares Sandra, Faustino Alexandra, Nunes Joana B, Lopes Jos\u00e9 Manuel, Soares Paula", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23904987", "url": "https://glygen.org/publication/PubMed/23904987" } ] }, { "title": "Coordinate phosphorylation of multiple residues on single AKT1 and AKT2 molecules.", "journal": "Oncogene", "date": "2014", "authors": "Guo H, Gao M, Lu Y, Liang J, Lorenzi PL, Bai S, Hawke DH, Li J, Dogruluk T, Scott KL, Jonasch E, Mills GB, Ding Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23912456", "url": "https://glygen.org/publication/PubMed/23912456" } ] }, { "title": "Cancer-associated fibroblasts promote proliferation of endometrial cancer cells.", "journal": "PloS one", "date": "2013", "authors": "Subramaniam KS, Tham ST, Mohamed Z, Woo YL, Mat Adenan NA, Chung I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23922669", "url": "https://glygen.org/publication/PubMed/23922669" } ] }, { "title": "Modulation of the Akt pathway reveals a novel link with PERK/eIF2alpha, which is relevant during hypoxia.", "journal": "PloS one", "date": "2013", "authors": "Blaustein M, Perez-Munizaga D, Sanchez MA, Urrutia C, Grande A, Risso G, Srebrow A, Alfaro J, Colman-Lerner A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23922774", "url": "https://glygen.org/publication/PubMed/23922774" } ] }, { "title": "BRCC2 inhibits breast cancer cell growth and metastasis in vitro and in vivo via downregulating AKT pathway.", "journal": "Cell death & disease", "date": "2013", "authors": "Li X, Kong X, Wang Y, Yang Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23928696", "url": "https://glygen.org/publication/PubMed/23928696" } ] }, { "title": "Anti-tumor activity of obinutuzumab and rituximab in a follicular lymphoma 3D model.", "journal": "Blood cancer journal", "date": "2013", "authors": "Decaup E, Jean C, Laurent C, Gravelle P, Fruchon S, Capilla F, Marrot A, Al Saati T, Frenois FX, Laurent G, Klein C, Varoqueaux N, Savina A, Fournie JJ, Bezombes C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23933705", "url": "https://glygen.org/publication/PubMed/23933705" } ] }, { "title": "O-GlcNAcylation-inducing treatments inhibit estrogen receptor alpha expression and confer resistance to 4-OH-tamoxifen in human breast cancer-derived MCF-7 cells.", "journal": "PloS one", "date": "2013", "authors": "Kanwal S, Fardini Y, Pagesy P, N'tumba-Byn T, Pierre-Eugene C, Masson E, Hampe C, Issad T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23935944", "url": "https://glygen.org/publication/PubMed/23935944" } ] }, { "title": "Vascular tumors have increased p70 S6-kinase activation and are inhibited by topical rapamycin.", "journal": "Laboratory investigation; a journal of technical methods and pathology", "date": "2013-10", "authors": "Du Wa, Gerald Damien, Perruzzi Carole A, Rodriguez-Waitkus Paul, Enayati Ladan, Krishnan Bhuvaneswari, Edmonds Joseph, Hochman Marcelo L, Lev Dina C, Phung Thuy L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23938603", "url": "https://glygen.org/publication/PubMed/23938603" } ] }, { "title": "Pronounced induction of endoplasmic reticulum stress and tumor suppression by surfactant-free poly(lactic-co-glycolic acid) nanoparticles via modulation of the PI3K signaling pathway.", "journal": "International journal of nanomedicine", "date": "2013", "authors": "Hou Chia-Cheng, Tsai Tsung-Lin, Su Wen-Pin, Hsieh Hsing-Pang, Yeh Chen-Sheng, Shieh Dar-Bin, Su Wu-Chou", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23940416", "url": "https://glygen.org/publication/PubMed/23940416" } ] }, { "title": "Akt-induced phosphorylation of N-CoR at serine 1450 contributes to its misfolded conformational dependent loss (MCDL) in acute myeloid leukemia of the M5 subtype.", "journal": "PloS one", "date": "2013", "authors": "Nin DS, Ali AB, Okumura K, Asou N, Chen CS, Chng WJ, Khan M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23940660", "url": "https://glygen.org/publication/PubMed/23940660" } ] }, { "title": "Requirement for the eIF4E binding proteins for the synergistic down-regulation of protein synthesis by hypertonic conditions and mTOR inhibition.", "journal": "PloS one", "date": "2013", "authors": "Clemens MJ, Elia A, Morley SJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23940704", "url": "https://glygen.org/publication/PubMed/23940704" } ] }, { "title": "Twist2 promotes ovarian cancer cell survival through activation of Akt.", "journal": "Oncology letters", "date": "2013", "authors": "Mao Y, Xu J, Song G, Zhang N, Yin H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23946798", "url": "https://glygen.org/publication/PubMed/23946798" } ] }, { "title": "Mechanical stretch increases MMP-2 production in vascular smooth muscle cells via activation of PDGFR-\u03b2/Akt signaling pathway.", "journal": "PloS one", "date": "2013", "authors": "Seo Kyo Won, Lee Seung Jin, Kim Yun Hak, Bae Jin Ung, Park So Youn, Bae Sun Sik, Kim Chi Dae", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23950935", "url": "https://glygen.org/publication/PubMed/23950935" } ] }, { "title": "Lung cancer cells that survive ionizing radiation show increased integrin \u03b12\u03b21- and EGFR-dependent invasiveness.", "journal": "PloS one", "date": "2013", "authors": "Li Xue, Ishihara Seiichiro, Yasuda Motoaki, Nishioka Takeshi, Mizutani Takeomi, Ishikawa Masayori, Kawabata Kazushige, Shirato Hiroki, Haga Hisashi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23951036", "url": "https://glygen.org/publication/PubMed/23951036" } ] }, { "title": "Evaluation of EGFR and RTK signaling in the electrotaxis of lung adenocarcinoma cells under direct-current electric field stimulation.", "journal": "PloS one", "date": "2013", "authors": "Tsai HF, Huang CW, Chang HF, Chen JJ, Lee CH, Cheng JY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23951353", "url": "https://glygen.org/publication/PubMed/23951353" } ] }, { "title": "Nitric oxide regulates AKT phosphorylation and nuclear translocation in cultured retinal cells.", "journal": "Cellular signalling", "date": "2013-12", "authors": "Mej\u00eda-Garc\u00eda Telmo A, Portugal Camila C, Encarna\u00e7\u00e3o Tha\u00edsa G, Prado Marco Ant\u00f4nio M, Paes-de-Carvalho Roberto", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23958999", "url": "https://glygen.org/publication/PubMed/23958999" } ] }, { "title": "Acute mechanical stretch promotes eNOS activation in venous endothelial cells mainly via PKA and Akt pathways.", "journal": "PloS one", "date": "2013", "authors": "Hu Z, Xiong Y, Han X, Geng C, Jiang B, Huo Y, Luo J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23977025", "url": "https://glygen.org/publication/PubMed/23977025" } ] }, { "title": "Cross talk between the Akt and p38alpha pathways in macrophages downstream of Toll-like receptor signaling.", "journal": "Molecular and cellular biology", "date": "2013", "authors": "McGuire VA, Gray A, Monk CE, Santos SG, Lee K, Aubareda A, Crowe J, Ronkina N, Schwermann J, Batty IH, Leslie NR, Dean JL, O'Keefe SJ, Boothby M, Gaestel M, Arthur JS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23979601", "url": "https://glygen.org/publication/PubMed/23979601" } ] }, { "title": "Long-term nitric oxide exposure enhances lung cancer cell migration.", "journal": "BioMed research international", "date": "2013", "authors": "Sanuphan Arpasinee, Chunhacha Preedakorn, Pongrakhananon Varisa, Chanvorachote Pithi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23984323", "url": "https://glygen.org/publication/PubMed/23984323" } ] }, { "title": "PTEN deficiency is associated with reduced sensitivity to mTOR inhibitor in human bladder cancer through the unhampered feedback loop driving PI3K/Akt activation.", "journal": "British journal of cancer", "date": "2013", "authors": "Seront E, Pinto A, Bouzin C, Bertrand L, Machiels JP, Feron O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23989949", "url": "https://glygen.org/publication/PubMed/23989949" } ] }, { "title": "Multiple host kinases contribute to Akt activation during Salmonella infection.", "journal": "PloS one", "date": "2013", "authors": "Roppenser B, Kwon H, Canadien V, Xu R, Devreotes PN, Grinstein S, Brumell JH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23990921", "url": "https://glygen.org/publication/PubMed/23990921" } ] }, { "title": "Activation of Akt signaling in prostate induces a TGFbeta-mediated restraint on cancer progression and metastasis.", "journal": "Oncogene", "date": "2014", "authors": "Bjerke GA, Yang CS, Frierson HF, Paschal BM, Wotton D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23995785", "url": "https://glygen.org/publication/PubMed/23995785" } ] }, { "title": "Protumorigenic actions of S100A2 involve regulation of PI3/Akt signaling and functional interaction with Smad3.", "journal": "Carcinogenesis", "date": "2014-01", "authors": "Naz Sarwat, Bashir Mohsin, Ranganathan Prathibha, Bodapati Priyanka, Santosh Vani, Kondaiah Paturu", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23996929", "url": "https://glygen.org/publication/PubMed/23996929" } ] }, { "title": "Mammalian target of rapamycin and Rictor control neutrophil chemotaxis by regulating Rac/Cdc42 activity and the actin cytoskeleton.", "journal": "Molecular biology of the cell", "date": "2013-11", "authors": "He Yuan, Li Dong, Cook Sara L, Yoon Mee-Sup, Kapoor Ashish, Rao Christopher V, Kenis Paul J A, Chen Jie, Wang Fei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24006489", "url": "https://glygen.org/publication/PubMed/24006489" } ] }, { "title": "Differential activation of signaling pathways by low-osmolar and iso-osmolar radiocontrast agents in human renal tubular cells.", "journal": "Journal of cellular biochemistry", "date": "2014", "authors": "Andreucci M, Faga T, Russo D, Bertucci B, Tamburrini O, Pisani A, Sabbatini M, Fuiano G, Michael A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24023012", "url": "https://glygen.org/publication/PubMed/24023012" } ] }, { "title": "CK2 inhibitor CX-4945 blocks TGF-beta1-induced epithelial-to-mesenchymal transition in A549 human lung adenocarcinoma cells.", "journal": "PloS one", "date": "2013", "authors": "Kim J, Hwan Kim S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24023938", "url": "https://glygen.org/publication/PubMed/24023938" } ] }, { "title": "Arsenite-induced stress signaling: modulation of the phosphoinositide 3'-kinase/Akt/FoxO signaling cascade.", "journal": "Redox biology", "date": "2013", "authors": "Hamann I, Klotz LO", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24024143", "url": "https://glygen.org/publication/PubMed/24024143" } ] }, { "title": "The AKT inhibitor MK-2206 is cytotoxic in hepatocarcinoma cells displaying hyperphosphorylated AKT-1 and synergizes with conventional chemotherapy.", "journal": "Oncotarget", "date": "2013", "authors": "Simioni C, Martelli AM, Cani A, Cetin-Atalay R, McCubrey JA, Capitani S, Neri LM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24036604", "url": "https://glygen.org/publication/PubMed/24036604" } ] }, { "title": "Ephrin-A1 is up-regulated by hypoxia in cancer cells and promotes angiogenesis of HUVECs through a coordinated cross-talk with eNOS.", "journal": "PloS one", "date": "2013", "authors": "Song Y, Zhao XP, Song K, Shang ZJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24040255", "url": "https://glygen.org/publication/PubMed/24040255" } ] }, { "title": "Protooncogene TCL1b functions as an Akt kinase co-activator that exhibits oncogenic potency in vivo.", "journal": "Oncogenesis", "date": "2013", "authors": "Hashimoto M, Suizu F, Tokuyama W, Noguchi H, Hirata N, Matsuda-Lennikov M, Edamura T, Masuzawa M, Gotoh N, Tanaka S, Noguchi M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24042734", "url": "https://glygen.org/publication/PubMed/24042734" } ] }, { "title": "Samsoeum, a traditional herbal medicine, elicits apoptotic and autophagic cell death by inhibiting Akt/mTOR and activating the JNK pathway in cancer cells.", "journal": "BMC complementary and alternative medicine", "date": "2013", "authors": "Kim A, Yim NH, Ma JY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24053190", "url": "https://glygen.org/publication/PubMed/24053190" } ] }, { "title": "Genistein induces G2/M arrest in gastric cancer cells by increasing the tumor suppressor PTEN expression.", "journal": "Nutrition and cancer", "date": "2013", "authors": "Liu YL, Zhang GQ, Yang Y, Zhang CY, Fu RX, Yang YM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24053672", "url": "https://glygen.org/publication/PubMed/24053672" } ] }, { "title": "Methylglyoxal induces platelet hyperaggregation and reduces thrombus stability by activating PKC and inhibiting PI3K/Akt pathway.", "journal": "PloS one", "date": "2013", "authors": "Hadas K, Randriamboavonjy V, Elgheznawy A, Mann A, Fleming I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24058557", "url": "https://glygen.org/publication/PubMed/24058557" } ] }, { "title": "Group X secreted phospholipase A(2) induces lipid droplet formation and prolongs breast cancer cell survival.", "journal": "Molecular cancer", "date": "2013", "authors": "Pucer A, Brglez V, Payre C, Pungercar J, Lambeau G, Petan T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24070020", "url": "https://glygen.org/publication/PubMed/24070020" } ] }, { "title": "Forced expression of the DEK-NUP214 fusion protein promotes proliferation dependent on upregulation of mTOR.", "journal": "BMC cancer", "date": "2013", "authors": "Sanden C, Ageberg M, Petersson J, Lennartsson A, Gullberg U", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24073922", "url": "https://glygen.org/publication/PubMed/24073922" } ] }, { "title": "Acute treatment with relaxin protects the kidney against ischaemia/reperfusion injury.", "journal": "Journal of cellular and molecular medicine", "date": "2013-11", "authors": "Collino Massimo, Rogazzo Mara, Pini Alessandro, Benetti Elisa, Rosa Arianna Carolina, Chiazza Fausto, Fantozzi Roberto, Bani Daniele, Masini Emanuela", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24079335", "url": "https://glygen.org/publication/PubMed/24079335" } ] }, { "title": "The mTORC2 component rictor contributes to cisplatin resistance in human ovarian cancer cells.", "journal": "PloS one", "date": "2013", "authors": "Im-aram Akechai, Farrand Lee, Bae Seung-Min, Song Gwonhwa, Song Yong Sang, Han Jae Yong, Tsang Benjamin K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24086535", "url": "https://glygen.org/publication/PubMed/24086535" } ] }, { "title": "Cordycepin regulates GSK-3beta/beta-catenin signaling in human leukemia cells.", "journal": "PloS one", "date": "2013", "authors": "Ko BS, Lu YJ, Yao WL, Liu TA, Tzean SS, Shen TL, Liou JY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24086728", "url": "https://glygen.org/publication/PubMed/24086728" } ] }, { "title": "Phenotype and regulation of immunosuppressive Vdelta2-expressing gammadelta T cells.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2014", "authors": "Peters C, Oberg HH, Kabelitz D, Wesch D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24091816", "url": "https://glygen.org/publication/PubMed/24091816" } ] }, { "title": "PI3K/Akt pathway mediates Nrf2/ARE activation in human L02 hepatocytes exposed to low-concentration HBCDs.", "journal": "Environmental science & technology", "date": "2013", "authors": "Zou W, Chen C, Zhong Y, An J, Zhang X, Yu Y, Yu Z, Fu J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24094245", "url": "https://glygen.org/publication/PubMed/24094245" } ] }, { "title": "CIP2A influences survival in colon cancer and is critical for maintaining Myc expression.", "journal": "PloS one", "date": "2013", "authors": "Wiegering A, Pfann C, Uthe FW, Otto C, Rycak L, Mader U, Gasser M, Waaga-Gasser AM, Eilers M, Germer CT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24098375", "url": "https://glygen.org/publication/PubMed/24098375" } ] }, { "title": "Angiotensin II signaling in human preadipose cells: participation of ERK1,2-dependent modulation of Akt.", "journal": "PloS one", "date": "2013", "authors": "Dunner N, Quezada C, Berndt FA, Canovas J, Rojas CV", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24098385", "url": "https://glygen.org/publication/PubMed/24098385" } ] }, { "title": "Free fatty acids inhibit protein tyrosine phosphatase 1B and activate Akt.", "journal": "Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology", "date": "2013", "authors": "Shibata E, Kanno T, Tsuchiya A, Kuribayashi K, Tabata C, Nakano T, Nishizaki T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24107614", "url": "https://glygen.org/publication/PubMed/24107614" } ] }, { "title": "ROS-dependent phosphorylation of Bax by wortmannin sensitizes melanoma cells for TRAIL-induced apoptosis.", "journal": "Cell death & disease", "date": "2013", "authors": "Quast SA, Berger A, Eberle J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24113173", "url": "https://glygen.org/publication/PubMed/24113173" } ] }, { "title": "Synthesis and biological evaluation of imidazopyridine-oxindole conjugates as microtubule-targeting agents.", "journal": "ChemMedChem", "date": "2013-12", "authors": "Kamal Ahmed, Reddy Vangala Santhosh, Karnewar Santosh, Chourasiya Sumit S, Shaik Anver Basha, Kumar G Bharath, Kishor Chandan, Reddy M Kashi, Narasimha Rao M P, Nagabhushana Ananthamurthy, Ramakrishna Kallaganti V S, Addlagatta Anthony, Kotamraju Srigiridhar", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24115733", "url": "https://glygen.org/publication/PubMed/24115733" } ] }, { "title": "20(S)-protopanaxadiol triggers mitochondrial-mediated apoptosis in human lung adenocarcinoma A549 cells via inhibiting the PI3K/Akt signaling pathway.", "journal": "The American journal of Chinese medicine", "date": "2013", "authors": "Zhang Yun-Long, Zhang Rui, Xu Hua-Li, Yu Xiao-Feng, Qu Shao-Chun, Sui Da-Yuan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24117074", "url": "https://glygen.org/publication/PubMed/24117074" } ] }, { "title": "Autophagy sensitivity of neuroendocrine lung tumor cells.", "journal": "International journal of oncology", "date": "2013-12", "authors": "Hong Seung-Keun, Kim Jin-Hwan, Starenki Dmytro, Park Jong-In", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24126619", "url": "https://glygen.org/publication/PubMed/24126619" } ] }, { "title": "N-benzyladriamycin-14-valerate (AD 198) exhibits potent anti-tumor activity on TRAF3-deficient mouse B lymphoma and human multiple myeloma.", "journal": "BMC cancer", "date": "2013-10-16", "authors": "Edwards Shanique K E, Moore Carissa R, Liu Yan, Grewal Sukhdeep, Covey Lori R, Xie Ping", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24131623", "url": "https://glygen.org/publication/PubMed/24131623" } ] }, { "title": "Somatostatin receptor sst2 reduces Akt activity and aggravates hypoxic/ischemic death in cerebral cortical neurons.", "journal": "Neuropharmacology", "date": "2014", "authors": "Stumm R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24157493", "url": "https://glygen.org/publication/PubMed/24157493" } ] }, { "title": "Endoplasmic Reticulum Stress Activation during Total Knee Arthroplasty.", "journal": "Physiological reports", "date": "2013", "authors": "Hocker AD, Boileau RM, Lantz BA, Jewett BA, Gilbert JS, Dreyer HC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24159375", "url": "https://glygen.org/publication/PubMed/24159375" } ] }, { "title": "Sin1 phosphorylation impairs mTORC2 complex integrity and inhibits downstream Akt signalling to suppress tumorigenesis.", "journal": "Nature cell biology", "date": "2013", "authors": "Liu P, Gan W, Inuzuka H, Lazorchak AS, Gao D, Arojo O, Liu D, Wan L, Zhai B, Yu Y, Yuan M, Kim BM, Shaik S, Menon S, Gygi SP, Lee TH, Asara JM, Manning BD, Blenis J, Su B, Wei W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24161930", "url": "https://glygen.org/publication/PubMed/24161930" } ] }, { "title": "PI3 kinase directly phosphorylates Akt1/2 at Ser473/474 in the insulin signal transduction pathway.", "journal": "The Journal of endocrinology", "date": "2014", "authors": "Tsuchiya A, Kanno T, Nishizaki T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24169049", "url": "https://glygen.org/publication/PubMed/24169049" } ] }, { "title": "Altered mRNA expression related to the apoptotic effect of three xanthones on human melanoma SK-MEL-28 cell line.", "journal": "BioMed research international", "date": "2013", "authors": "Wang Jing J, Zhang Wei, Sanderson Barbara J S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24175297", "url": "https://glygen.org/publication/PubMed/24175297" } ] }, { "title": "Microenvironment mesenchymal cells protect ovarian cancer cell lines from apoptosis by inhibiting XIAP inactivation.", "journal": "Cell death & disease", "date": "2013", "authors": "Castells M, Milhas D, Gandy C, Thibault B, Rafii A, Delord JP, Couderc B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24176845", "url": "https://glygen.org/publication/PubMed/24176845" } ] }, { "title": "Role of EIF5A2, a downstream target of Akt, in promoting melanoma cell invasion.", "journal": "British journal of cancer", "date": "2014", "authors": "Khosravi S, Wong RP, Ardekani GS, Zhang G, Martinka M, Ong CJ, Li G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24178756", "url": "https://glygen.org/publication/PubMed/24178756" } ] }, { "title": "Effect of AKT inhibition on epithelial-mesenchymal transition and ZEB1-potentiated radiotherapy in nasopharyngeal carcinoma.", "journal": "Oncology letters", "date": "2013", "authors": "Chen W, Wu S, Zhang G, Wang W, Shi Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24179501", "url": "https://glygen.org/publication/PubMed/24179501" } ] }, { "title": "Role of podocalyxin in astrocytoma: Clinicopathological and in vitro evidence.", "journal": "Oncology letters", "date": "2013", "authors": "Huang T, Jin X, He L, Zhang M, Wu J, Wang Y, Fang J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24179530", "url": "https://glygen.org/publication/PubMed/24179530" } ] }, { "title": "Curcumin attenuates amyloid-beta-induced tau hyperphosphorylation in human neuroblastoma SH-SY5Y cells involving PTEN/Akt/GSK-3beta signaling pathway.", "journal": "Journal of receptor and signal transduction research", "date": "2014", "authors": "Huang HC, Tang D, Xu K, Jiang ZF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24188406", "url": "https://glygen.org/publication/PubMed/24188406" } ] }, { "title": "Dichloroacetate induces protective autophagy in LoVo cells: involvement of cathepsin D/thioredoxin-like protein 1 and Akt-mTOR-mediated signaling.", "journal": "Cell death & disease", "date": "2013", "authors": "Gong F, Peng X, Sang Y, Qiu M, Luo C, He Z, Zhao X, Tong A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24201812", "url": "https://glygen.org/publication/PubMed/24201812" } ] }, { "title": "Deregulated expression of TANK in glioblastomas triggers pro-tumorigenic ERK1/2 and AKT signaling pathways.", "journal": "Oncogenesis", "date": "2013-11-11", "authors": "Stellzig J, Chariot A, Shostak K, Ismail G\u00f6ktuna S, Renner F, Acker T, Pagenstecher A, Schmitz M L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24217713", "url": "https://glygen.org/publication/PubMed/24217713" } ] }, { "title": "FUT family mediates the multidrug resistance of human hepatocellular carcinoma via the PI3K/Akt signaling pathway.", "journal": "Cell death & disease", "date": "2013", "authors": "Cheng L, Luo S, Jin C, Ma H, Zhou H, Jia L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24232099", "url": "https://glygen.org/publication/PubMed/24232099" } ] }, { "title": "Transforming growth factor \u03b2 inhibits platelet derived growth factor-induced vascular smooth muscle cell proliferation via Akt-independent, Smad-mediated cyclin D1 downregulation.", "journal": "PloS one", "date": "2013", "authors": "Martin-Garrido Abel, Williams Holly C, Lee Minyoung, Seidel-Rogol Bonnie, Ci Xinpei, Dong Jin-Tang, Lass\u00e8gue Bernard, Mart\u00edn Alejandra San, Griendling Kathy K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24236150", "url": "https://glygen.org/publication/PubMed/24236150" } ] }, { "title": "AcSDKP regulates cell proliferation through the PI3KCA/Akt signaling pathway.", "journal": "PloS one", "date": "2013", "authors": "Hu Ping, Li Bin, Zhang Wenhua, Li Yijian, Li Guang, Jiang Xinnong, Wdzieczak-Bakala Joanna, Liu Jianmiao", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24244481", "url": "https://glygen.org/publication/PubMed/24244481" } ] }, { "title": "Differential effects of selective inhibitors targeting the PI3K/AKT/mTOR pathway in acute lymphoblastic leukemia.", "journal": "PloS one", "date": "2013", "authors": "Badura S, Tesanovic T, Pfeifer H, Wystub S, Nijmeijer BA, Liebermann M, Falkenburg JH, Ruthardt M, Ottmann OG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24244612", "url": "https://glygen.org/publication/PubMed/24244612" } ] }, { "title": "Acute exercise and physiological insulin induce distinct phosphorylation signatures on TBC1D1 and TBC1D4 proteins in human skeletal muscle.", "journal": "The Journal of physiology", "date": "2014", "authors": "Treebak JT, Pehmoller C, Kristensen JM, Kjobsted R, Birk JB, Schjerling P, Richter EA, Goodyear LJ, Wojtaszewski JF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24247980", "url": "https://glygen.org/publication/PubMed/24247980" } ] }, { "title": "Cellular effects of everolimus and sirolimus on podocytes.", "journal": "PloS one", "date": "2013", "authors": "Muller-Krebs S, Weber L, Tsobaneli J, Kihm LP, Reiser J, Zeier M, Schwenger V", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24260371", "url": "https://glygen.org/publication/PubMed/24260371" } ] }, { "title": "Type II cGMP-dependent protein kinase inhibits epidermal growth factor-induced phosphatidylinositol-3-kinase/Akt signal transduction in gastric cancer cells.", "journal": "Oncology letters", "date": "2013", "authors": "Wu M, Chen Y, Jiang L, Li Y, Lan T, Wang Y, Qian H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24273605", "url": "https://glygen.org/publication/PubMed/24273605" } ] }, { "title": "Gefitinib resistance resulted from STAT3-mediated Akt activation in lung cancer cells.", "journal": "Oncotarget", "date": "2013", "authors": "Wu K, Chang Q, Lu Y, Qiu P, Chen B, Thakur C, Sun J, Li L, Kowluru A, Chen F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24280348", "url": "https://glygen.org/publication/PubMed/24280348" } ] }, { "title": "ATM regulates Cdt1 stability during the unperturbed S phase to prevent re-replication.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2014", "authors": "Iwahori S, Kohmon D, Kobayashi J, Tani Y, Yugawa T, Komatsu K, Kiyono T, Sugimoto N, Fujita M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24280901", "url": "https://glygen.org/publication/PubMed/24280901" } ] }, { "title": "Cyclic phosphatidic acid stimulates cAMP production and inhibits growth in human colon cancer cells.", "journal": "PloS one", "date": "2013", "authors": "Tsukahara T, Matsuda Y, Haniu H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24282571", "url": "https://glygen.org/publication/PubMed/24282571" } ] }, { "title": "Kaempferol promotes apoptosis in human bladder cancer cells by inducing the tumor suppressor, PTEN.", "journal": "International journal of molecular sciences", "date": "2013", "authors": "Xie F, Su M, Qiu W, Zhang M, Guo Z, Su B, Liu J, Li X, Zhou L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24284390", "url": "https://glygen.org/publication/PubMed/24284390" } ] }, { "title": "Monocytes, but not T cells, respond to insulin with Akt(S473) phosphorylation independent of the donor glucometabolic state.", "journal": "Diabetes/metabolism research and reviews", "date": "2014", "authors": "Thewissen MM, van de Gaar J, den Boer AT, Munsters MJ, Blaak EE, Duijvestijn A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24302564", "url": "https://glygen.org/publication/PubMed/24302564" } ] }, { "title": "Mammalian target of rapamycin complex 2 (mTORC2) is a critical determinant of bladder cancer invasion.", "journal": "PloS one", "date": "2013", "authors": "Gupta Sounak, Hau Andrew M, Beach Jordan R, Harwalker Jyoti, Mantuano Elisabetta, Gonias Steven L, Egelhoff Thomas T, Hansel Donna E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24312263", "url": "https://glygen.org/publication/PubMed/24312263" } ] }, { "title": "RhoA modulates signaling through the mechanistic target of rapamycin complex 1 (mTORC1) in mammalian cells.", "journal": "Cellular signalling", "date": "2014", "authors": "Gordon BS, Kazi AA, Coleman CS, Dennis MD, Chau V, Jefferson LS, Kimball SR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24316235", "url": "https://glygen.org/publication/PubMed/24316235" } ] }, { "title": "Okadaic acid toxin at sublethal dose produced cell proliferation in gastric and colon epithelial cell lines.", "journal": "Marine drugs", "date": "2013-12-02", "authors": "del Campo Miguel, Toledo H\u00e9ctor, Lagos N\u00e9stor", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24317467", "url": "https://glygen.org/publication/PubMed/24317467" } ] }, { "title": "Molecular mechanism of apoptosis induction in skin cancer cells by the centipedegrass extract.", "journal": "BMC complementary and alternative medicine", "date": "2013", "authors": "Badaboina S, Bai HW, Park CH, Jang DM, Choi BY, Chung BY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24325618", "url": "https://glygen.org/publication/PubMed/24325618" } ] }, { "title": "Mitochondrial DNA depletion sensitizes cancer cells to PARP inhibitors by translational and post-translational repression of BRCA2.", "journal": "Oncogenesis", "date": "2013", "authors": "Arbini AA, Guerra F, Greco M, Marra E, Gandee L, Xiao G, Lotan Y, Gasparre G, Hsieh JT, Moro L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24336406", "url": "https://glygen.org/publication/PubMed/24336406" } ] }, { "title": "Active form of AKT controls cell proliferation and response to apoptosis in hepatocellular carcinoma.", "journal": "Oncology reports", "date": "2014", "authors": "Kunter I, Erdal E, Nart D, Yilmaz F, Karademir S, Sagol O, Atabey N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24337632", "url": "https://glygen.org/publication/PubMed/24337632" } ] }, { "title": "The influence of AKT isoforms on radiation sensitivity and DNA repair in colon cancer cell lines.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2014", "authors": "Sahlberg SH, Gustafsson AS, Pendekanti PN, Glimelius B, Stenerlow B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24338765", "url": "https://glygen.org/publication/PubMed/24338765" } ] }, { "title": "Difference in protein expression profile and chemotherapy drugs response of different progression stages of LNCaP sublines and other human prostate cancer cells.", "journal": "PloS one", "date": "2013", "authors": "Lin HP, Lin CY, Hsiao PH, Wang HD, Jiang SS, Hsu JM, Jim WT, Chen M, Kung HJ, Chuu CP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24349321", "url": "https://glygen.org/publication/PubMed/24349321" } ] }, { "title": "PDK1 selectively phosphorylates Thr(308) on Akt and contributes to human platelet functional responses.", "journal": "Thrombosis and haemostasis", "date": "2014", "authors": "Dangelmaier C, Manne BK, Liverani E, Jin J, Bray P, Kunapuli SP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24352480", "url": "https://glygen.org/publication/PubMed/24352480" } ] }, { "title": "Expression of insulin-like growth factor-1 receptor in metastatic uveal melanoma and implications for potential autocrine and paracrine tumor cell growth.", "journal": "Pigment cell & melanoma research", "date": "2014", "authors": "Yoshida M, Selvan S, McCue PA, DeAngelis T, Baserga R, Fujii A, Rui H, Mastrangelo MJ, Sato T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24354797", "url": "https://glygen.org/publication/PubMed/24354797" } ] }, { "title": "Endothelial lineage differentiation from induced pluripotent stem cells is regulated by microRNA-21 and transforming growth factor beta2 (TGF-beta2) pathways.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Di Bernardini E, Campagnolo P, Margariti A, Zampetaki A, Karamariti E, Hu Y, Xu Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24356956", "url": "https://glygen.org/publication/PubMed/24356956" } ] }, { "title": "Mdm20 stimulates polyQ aggregation via inhibiting autophagy through Akt-Ser473 phosphorylation.", "journal": "PloS one", "date": "2013", "authors": "Yasuda K, Ohyama K, Onga K, Kakizuka A, Mori N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24358196", "url": "https://glygen.org/publication/PubMed/24358196" } ] }, { "title": "DNA-dependent protein kinase catalytic subunit (DNA-PKcs)-SIN1 association mediates ultraviolet B (UVB)-induced Akt Ser-473 phosphorylation and skin cell survival.", "journal": "Molecular cancer", "date": "2013", "authors": "Tu Y, Ji C, Yang B, Yang Z, Gu H, Lu CC, Wang R, Su ZL, Chen B, Sun WL, Xia JP, Bi ZG, He L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24365180", "url": "https://glygen.org/publication/PubMed/24365180" } ] }, { "title": "Ganglioside GD3 induces convergence and synergism of adhesion and hepatocyte growth factor/Met signals in melanomas.", "journal": "Cancer science", "date": "2014", "authors": "Furukawa K, Kambe M, Miyata M, Ohkawa Y, Tajima O, Furukawa K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24372645", "url": "https://glygen.org/publication/PubMed/24372645" } ] }, { "title": "Insight into the structural mechanism for PKBalpha allosteric inhibition by molecular dynamics simulations and free energy calculations.", "journal": "Journal of molecular graphics & modelling", "date": "2014", "authors": "Chen SF, Cao Y, Han S, Chen JZ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24374242", "url": "https://glygen.org/publication/PubMed/24374242" } ] }, { "title": "NOV-002, A Glutathione Disulfide Mimetic, Suppresses Tumor Cell Invasion and Metastasis.", "journal": "Journal of carcinogenesis & mutagenesis", "date": "2013", "authors": "Gumireddy K, Li A, Cao L, Yan J, Liu L, Xu X, Pazoles C, Huang Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24377058", "url": "https://glygen.org/publication/PubMed/24377058" } ] }, { "title": "PAR-1 activation rescues astrocytes through the PI3K/Akt signaling pathway from chemically induced apoptosis that is exacerbated by gene silencing of beta-arrestin 1.", "journal": "Neurochemistry international", "date": "2014", "authors": "Zhu Z, Reiser G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24378649", "url": "https://glygen.org/publication/PubMed/24378649" } ] }, { "title": "(+)-Grandifloracin, an antiausterity agent, induces autophagic PANC-1 pancreatic cancer cell death.", "journal": "Drug design, development and therapy", "date": "2014", "authors": "Ueda JY, Athikomkulchai S, Miyatake R, Saiki I, Esumi H, Awale S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24379655", "url": "https://glygen.org/publication/PubMed/24379655" } ] }, { "title": "Whey protein intake after resistance exercise activates mTOR signaling in a dose-dependent manner in human skeletal muscle.", "journal": "European journal of applied physiology", "date": "2014", "authors": "Kakigi R, Yoshihara T, Ozaki H, Ogura Y, Ichinoseki-Sekine N, Kobayashi H, Naito H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24384983", "url": "https://glygen.org/publication/PubMed/24384983" } ] }, { "title": "Arsenic trioxide overcomes rapamycin-induced feedback activation of AKT and ERK signaling to enhance the anti-tumor effects in breast cancer.", "journal": "PloS one", "date": "2013", "authors": "Guilbert C, Annis MG, Dong Z, Siegel PM, Miller WH Jr, Mann KK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24392034", "url": "https://glygen.org/publication/PubMed/24392034" } ] }, { "title": "Estrogen protects SGC7901 cells from endoplasmic reticulum stress-induced apoptosis by the Akt pathway.", "journal": "Oncology letters", "date": "2014", "authors": "Fu Z, Zou F, Deng H, Zhou H, Liu L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24396487", "url": "https://glygen.org/publication/PubMed/24396487" } ] }, { "title": "Epigallocatechin-3-gallate inhibits cell growth, induces apoptosis and causes S phase arrest in hepatocellular carcinoma by suppressing the AKT pathway.", "journal": "International journal of oncology", "date": "2014", "authors": "Shen X, Zhang Y, Feng Y, Zhang L, Li J, Xie YA, Luo X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24402647", "url": "https://glygen.org/publication/PubMed/24402647" } ] }, { "title": "Synergistic cytotoxicity of gemcitabine, clofarabine and edelfosine in lymphoma cell lines.", "journal": "Blood cancer journal", "date": "2014", "authors": "Valdez BC, Zander AR, Song G, Murray D, Nieto Y, Li Y, Champlin RE, Andersson BS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24413065", "url": "https://glygen.org/publication/PubMed/24413065" } ] }, { "title": "The combination of RAD001 and MK-2206 exerts synergistic cytotoxic effects against PTEN mutant gastric cancer cells: involvement of MAPK-dependent autophagic, but not apoptotic cell death pathway.", "journal": "PloS one", "date": "2014", "authors": "Ji D, Zhang Z, Cheng L, Chang J, Wang S, Zheng B, Zheng R, Sun Z, Wang C, Zhang Z, Liu R, Zhang X, Liu X, Wang X, Li J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24416349", "url": "https://glygen.org/publication/PubMed/24416349" } ] }, { "title": "Resveratrol induces vascular smooth muscle cell differentiation through stimulation of SirT1 and AMPK.", "journal": "PloS one", "date": "2014", "authors": "Thompson Anne Marie, Martin Kathleen A, Rzucidlo Eva M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24416418", "url": "https://glygen.org/publication/PubMed/24416418" } ] }, { "title": "Identification of a promising PI3K inhibitor for the treatment of multiple myeloma through the structural optimization.", "journal": "Journal of hematology & oncology", "date": "2014", "authors": "Han K, Xu X, Chen G, Zeng Y, Zhu J, Du X, Zhang Z, Cao B, Liu Z, Mao X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24428908", "url": "https://glygen.org/publication/PubMed/24428908" } ] }, { "title": "TUSC3 loss alters the ER stress response and accelerates prostate cancer growth in vivo.", "journal": "Scientific reports", "date": "2014-01-17", "authors": "Horak Peter, Tomasich Erwin, Va\u0148hara Petr, Kratochv\u00edlov\u00e1 Kate\u0159ina, Anees Mariam, Marhold Maximilian, Lemberger Christof E, Gerschpacher Marion, Horvat Reinhard, Sibilia Maria, Pils Dietmar, Krainer Michael", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24435307", "url": "https://glygen.org/publication/PubMed/24435307" } ] }, { "title": "Sirt2 deacetylase is a novel AKT binding partner critical for AKT activation by insulin.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Ramakrishnan G, Davaakhuu G, Kaplun L, Chung WC, Rana A, Atfi A, Miele L, Tzivion G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24446434", "url": "https://glygen.org/publication/PubMed/24446434" } ] }, { "title": "FoxO transcription factors promote AKT Ser473 phosphorylation and renal tumor growth in response to pharmacologic inhibition of the PI3K-AKT pathway.", "journal": "Cancer research", "date": "2014", "authors": "Lin A, Piao HL, Zhuang L, Sarbassov dos D, Ma L, Gan B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24448243", "url": "https://glygen.org/publication/PubMed/24448243" } ] }, { "title": "VEGF-B-induced vascular growth leads to metabolic reprogramming and ischemia resistance in the heart.", "journal": "EMBO molecular medicine", "date": "2014-03", "authors": "Kivel\u00e4 Riikka, Bry Maija, Robciuc Marius R, R\u00e4s\u00e4nen Markus, Taavitsainen Miia, Silvola Johanna M U, Saraste Antti, Hulmi Juha J, Anisimov Andrey, M\u00e4yr\u00e4np\u00e4\u00e4 Mikko I, Lindeman Jan H, Eklund Lauri, Hellberg Sanna, Hlushchuk Ruslan, Zhuang Zhen W, Simons Michael, Djonov Valentin, Knuuti Juhani, Mervaala Eero, Alitalo Kari", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24448490", "url": "https://glygen.org/publication/PubMed/24448490" } ] }, { "title": "Rictor/mTORC2 protects against cisplatin-induced tubular cell death and acute kidney injury.", "journal": "Kidney international", "date": "2014", "authors": "Li J, Xu Z, Jiang L, Mao J, Zeng Z, Fang L, He W, Yuan W, Yang J, Dai C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24451322", "url": "https://glygen.org/publication/PubMed/24451322" } ] }, { "title": "FOXO1-dependent DNA damage repair is regulated by JNK in lung cancer cells.", "journal": "International journal of oncology", "date": "2014", "authors": "Ju Y, Xu T, Zhang H, Yu A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24452601", "url": "https://glygen.org/publication/PubMed/24452601" } ] }, { "title": "Reversal effect of ST6GAL 1 on multidrug resistance in human leukemia by regulating the PI3K/Akt pathway and the expression of P-gp and MRP1.", "journal": "PloS one", "date": "2014", "authors": "Ma H, Cheng L, Hao K, Li Y, Song X, Zhou H, Jia L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24454800", "url": "https://glygen.org/publication/PubMed/24454800" } ] }, { "title": "Gbetagamma interacts with mTOR and promotes its activation.", "journal": "Biochemical and biophysical research communications", "date": "2014", "authors": "Robles-Molina E, Dionisio-Vicuna M, Guzman-Hernandez ML, Reyes-Cruz G, Vazquez-Prado J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24462769", "url": "https://glygen.org/publication/PubMed/24462769" } ] }, { "title": "Phosphorylation by Akt within the ST loop of AMPK-alpha1 down-regulates its activation in tumour cells.", "journal": "The Biochemical journal", "date": "2014", "authors": "Hawley SA, Ross FA, Gowans GJ, Tibarewal P, Leslie NR, Hardie DG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24467442", "url": "https://glygen.org/publication/PubMed/24467442" } ] }, { "title": "Runx2 activates PI3K/Akt signaling via mTORC2 regulation in invasive breast cancer cells.", "journal": "Breast cancer research : BCR", "date": "2014-01-30", "authors": "Tandon Manish, Chen Zujian, Pratap Jitesh", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24479521", "url": "https://glygen.org/publication/PubMed/24479521" } ] }, { "title": "Galectin-1 has potential prognostic significance and is implicated in clear cell renal cell carcinoma progression through the HIF/mTOR signaling axis.", "journal": "British journal of cancer", "date": "2014", "authors": "White NM, Masui O, Newsted D, Scorilas A, Romaschin AD, Bjarnason GA, Siu KW, Yousef GM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24496460", "url": "https://glygen.org/publication/PubMed/24496460" } ] }, { "title": "G(i)alpha proteins exhibit functional differences in the activation of ERK1/2, Akt and mTORC1 by growth factors in normal and breast cancer cells.", "journal": "Cell communication and signaling : CCS", "date": "2014", "authors": "Wang Z, Dela Cruz R, Ji F, Guo S, Zhang J, Wang Y, Feng GS, Birnbaumer L, Jiang M, Chu WM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24521094", "url": "https://glygen.org/publication/PubMed/24521094" } ] }, { "title": "Artemisia dracunculus L. extract ameliorates insulin sensitivity by attenuating inflammatory signalling in human skeletal muscle culture.", "journal": "Diabetes, obesity & metabolism", "date": "2014-08", "authors": "Vandanmagsar B, Haynie K R, Wicks S E, Bermudez E M, Mendoza T M, Ribnicky D, Cefalu W T, Mynatt R L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24521217", "url": "https://glygen.org/publication/PubMed/24521217" } ] }, { "title": "Ras protein activation is a key event in activity-dependent survival of cerebellar granule neurons.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Xifro X, Minano-Molina AJ, Saura CA, Rodriguez-Alvarez J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24523415", "url": "https://glygen.org/publication/PubMed/24523415" } ] }, { "title": "Expression and regulation of prostate apoptosis response-4 (Par-4) in human glioma stem cells in drug-induced apoptosis.", "journal": "PloS one", "date": "2014", "authors": "Jagtap JC, Dawood P, Shah RD, Chandrika G, Natesh K, Shiras A, Hegde AS, Ranade D, Shastry P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24523904", "url": "https://glygen.org/publication/PubMed/24523904" } ] }, { "title": "AKT mediates actinomycin D-induced p53 expression.", "journal": "Oncotarget", "date": "2014", "authors": "Chen CS, Ho DR, Chen FY, Chen CR, Ke YD, Su JG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24525337", "url": "https://glygen.org/publication/PubMed/24525337" } ] }, { "title": "Activation of AKT by O-linked N-acetylglucosamine induces vascular calcification in diabetes mellitus.", "journal": "Circulation research", "date": "2014", "authors": "Heath JM, Sun Y, Yuan K, Bradley WE, Litovsky S, Dell'Italia LJ, Chatham JC, Wu H, Chen Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24526702", "url": "https://glygen.org/publication/PubMed/24526702" } ] }, { "title": "Acute and long-term effects of arsenite in HepG2 cells: modulation of insulin signaling.", "journal": "Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine", "date": "2014-04", "authors": "Hamann Ingrit, Petroll Kerstin, Hou Xiaoqing, Anwar-Mohamed Anwar, El-Kadi Ayman O S, Klotz Lars-Oliver", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24535192", "url": "https://glygen.org/publication/PubMed/24535192" } ] }, { "title": "The mTOR pathway controls cell proliferation by regulating the FoxO3a transcription factor via SGK1 kinase.", "journal": "PloS one", "date": "2014", "authors": "Mori Shunsuke, Nada Shigeyuki, Kimura Hironobu, Tajima Shoji, Takahashi Yusuke, Kitamura Ayaka, Oneyama Chitose, Okada Masato", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24558442", "url": "https://glygen.org/publication/PubMed/24558442" } ] }, { "title": "Is there a pAkt between VEGF and oral cancer cell migration?", "journal": "Cellular signalling", "date": "2014", "authors": "Islam MR, Jones SJ, Macluskey M, Ellis IR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24561239", "url": "https://glygen.org/publication/PubMed/24561239" } ] }, { "title": "mTORC1/C2 and pan-HDAC inhibitors synergistically impair breast cancer growth by convergent AKT and polysome inhibiting mechanisms.", "journal": "Breast cancer research and treatment", "date": "2014", "authors": "Wilson-Edell KA, Yevtushenko MA, Rothschild DE, Rogers AN, Benz CC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24562770", "url": "https://glygen.org/publication/PubMed/24562770" } ] }, { "title": "Inhibition of mTORC1 induces loss of E-cadherin through AKT/GSK-3beta signaling-mediated upregulation of E-cadherin repressor complexes in non-small cell lung cancer cells.", "journal": "Respiratory research", "date": "2014", "authors": "Kim EY, Kim A, Kim SK, Kim HJ, Chang J, Ahn CM, Chang YS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24571487", "url": "https://glygen.org/publication/PubMed/24571487" } ] }, { "title": "Akt inhibitor MK-2206 promotes anti-tumor activity and cell death by modulation of AIF and Ezrin in colorectal cancer.", "journal": "BMC cancer", "date": "2014", "authors": "Agarwal E, Chaudhuri A, Leiphrakpam PD, Haferbier KL, Brattain MG, Chowdhury S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24581231", "url": "https://glygen.org/publication/PubMed/24581231" } ] }, { "title": "The inhibitory effect of anthocyanins on Akt on invasion and epithelial-mesenchymal transition is not associated with the anti-EGFR effect of the anthocyanins.", "journal": "International journal of oncology", "date": "2014", "authors": "Lu JN, Lee WS, Kim MJ, Yun JW, Jung JH, Yi SM, Jeong JH, Kim HJ, Choi YH, Kim GS, Ryu CH, Shin SC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24585214", "url": "https://glygen.org/publication/PubMed/24585214" } ] }, { "title": "Activated AKT pathway promotes establishment of endometriosis.", "journal": "Endocrinology", "date": "2014", "authors": "Kim TH, Yu Y, Luo L, Lydon JP, Jeong JW, Kim JJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24605828", "url": "https://glygen.org/publication/PubMed/24605828" } ] }, { "title": "Estrogen Regulates Protein Synthesis and Actin Polymerization in Hippocampal Neurons through Different Molecular Mechanisms.", "journal": "Frontiers in endocrinology", "date": "2014", "authors": "Briz V, Baudry M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24611062", "url": "https://glygen.org/publication/PubMed/24611062" } ] }, { "title": "Protein kinase C and P2Y12 take center stage in thrombin-mediated activation of mammalian target of rapamycin complex 1 in human platelets.", "journal": "Journal of thrombosis and haemostasis : JTH", "date": "2014", "authors": "Moore SF, Hunter RW, Hers I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24612393", "url": "https://glygen.org/publication/PubMed/24612393" } ] }, { "title": "Autocrine effects of tumor-derived complement.", "journal": "Cell reports", "date": "2014", "authors": "Cho MS, Vasquez HG, Rupaimoole R, Pradeep S, Wu S, Zand B, Han HD, Rodriguez-Aguayo C, Bottsford-Miller J, Huang J, Miyake T, Choi HJ, Dalton HJ, Ivan C, Baggerly K, Lopez-Berestein G, Sood AK, Afshar-Kharghan V", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24613353", "url": "https://glygen.org/publication/PubMed/24613353" } ] }, { "title": "Identification of mTORC2 as a necessary component of HRG/ErbB2-dependent cellular transformation.", "journal": "Molecular cancer research : MCR", "date": "2014", "authors": "Lin MC, Rojas KS, Cerione RA, Wilson KF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24615340", "url": "https://glygen.org/publication/PubMed/24615340" } ] }, { "title": "Downstream signaling and genome-wide regulatory effects of PTK7 pseudokinase and its proteolytic fragments in cancer cells.", "journal": "Cell communication and signaling : CCS", "date": "2014", "authors": "Golubkov VS, Strongin AY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24618420", "url": "https://glygen.org/publication/PubMed/24618420" } ] }, { "title": "Feedback loops blockade potentiates apoptosis induction and antitumor activity of a novel AKT inhibitor DC120 in human liver cancer.", "journal": "Cell death & disease", "date": "2014", "authors": "Yang F, Deng R, Qian XJ, Chang SH, Wu XQ, Qin J, Feng GK, Ding K, Zhu XF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24625973", "url": "https://glygen.org/publication/PubMed/24625973" } ] }, { "title": "Axitinib for preoperative downstaging of renal cell carcinoma with sarcomatoid differentiation and direct invasion of the duodenum and inferior vena cava: a case report.", "journal": "OncoTargets and therapy", "date": "2014", "authors": "Yuki H, Kamai T, Kubota K, Abe H, Nishihara D, Mizuno T, Masuda A, Betsunoh H, Yashi M, Fukabori Y, Yoshida K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24627641", "url": "https://glygen.org/publication/PubMed/24627641" } ] }, { "title": "Novel transcripts from a distinct promoter that encode the full-length AKT1 in human breast cancer cells.", "journal": "BMC cancer", "date": "2014", "authors": "Schmidt JW, Wehde BL, Sakamoto K, Triplett AA, West WW, Wagner KU", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24628780", "url": "https://glygen.org/publication/PubMed/24628780" } ] }, { "title": "Ceramide inhibits insulin-stimulated Akt phosphorylation through activation of Rheb/mTORC1/S6K signaling in skeletal muscle.", "journal": "Cellular signalling", "date": "2014-07", "authors": "Hsieh Chang-Ting, Chuang Jen-Hua, Yang Wen-Chin, Yin Yi, Lin Yenshou", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24650522", "url": "https://glygen.org/publication/PubMed/24650522" } ] }, { "title": "PI3Kgamma integrates cAMP and Akt signalling of the mu-opioid receptor.", "journal": "British journal of pharmacology", "date": "2014", "authors": "Madishetti S, Schneble N, Konig C, Hirsch E, Schulz S, Muller JP, Wetzker R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24654606", "url": "https://glygen.org/publication/PubMed/24654606" } ] }, { "title": "Targeting Epstein-Barr virus oncoprotein LMP1-mediated glycolysis sensitizes nasopharyngeal carcinoma to radiation therapy.", "journal": "Oncogene", "date": "2014", "authors": "Xiao L, Hu ZY, Dong X, Tan Z, Li W, Tang M, Chen L, Yang L, Tao Y, Jiang Y, Li J, Yi B, Li B, Fan S, You S, Deng X, Hu F, Feng L, Bode AM, Dong Z, Sun LQ, Cao Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24662831", "url": "https://glygen.org/publication/PubMed/24662831" } ] }, { "title": "Genistein suppresses tumor necrosis factor alpha-induced inflammation via modulating reactive oxygen species/Akt/nuclear factor kappaB and adenosine monophosphate-activated protein kinase signal pathways in human synoviocyte MH7A cells.", "journal": "Drug design, development and therapy", "date": "2014", "authors": "Li J, Li J, Yue Y, Hu Y, Cheng W, Liu R, Pan X, Zhang P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24669186", "url": "https://glygen.org/publication/PubMed/24669186" } ] }, { "title": "Inflammation and pancreatic cancer: molecular and functional interactions between S100A8, S100A9, NT-S100A8 and TGFbeta1.", "journal": "Cell communication and signaling : CCS", "date": "2014", "authors": "Basso D, Bozzato D, Padoan A, Moz S, Zambon CF, Fogar P, Greco E, Scorzeto M, Simonato F, Navaglia F, Fassan M, Pelloso M, Dupont S, Pedrazzoli S, Fassina A, Plebani M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24670043", "url": "https://glygen.org/publication/PubMed/24670043" } ] }, { "title": "Novel anti-microbial peptide SR-0379 accelerates wound healing via the PI3 kinase/Akt/mTOR pathway.", "journal": "PloS one", "date": "2014", "authors": "Tomioka H, Nakagami H, Tenma A, Saito Y, Kaga T, Kanamori T, Tamura N, Tomono K, Kaneda Y, Morishita R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24675668", "url": "https://glygen.org/publication/PubMed/24675668" } ] }, { "title": "Tribbles homolog 3 attenuates mammalian target of rapamycin complex-2 signaling and inflammation in the diabetic kidney.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2014", "authors": "Borsting E, Patel SV, Decleves AE, Lee SJ, Rahman QM, Akira S, Satriano J, Sharma K, Vallon V, Cunard R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24676635", "url": "https://glygen.org/publication/PubMed/24676635" } ] }, { "title": "Low expression of Abelson interactor-1 is linked to acquired drug resistance in Bcr-Abl-induced leukemia.", "journal": "Leukemia", "date": "2014-11", "authors": "Chorzalska A, Salloum I, Shafqat H, Khan S, Marjon P, Treaba D, Schorl C, Morgan J, Bryke C R, Falanga V, Zhao T C, Reagan J, Winer E, Olszewski A J, Al-Homsi A S, Kouttab N, Dubielecka P M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24699303", "url": "https://glygen.org/publication/PubMed/24699303" } ] }, { "title": "AKT inhibitors promote cell death in cervical cancer through disruption of mTOR signaling and glucose uptake.", "journal": "PloS one", "date": "2014", "authors": "Rashmi R, DeSelm C, Helms C, Bowcock A, Rogers BE, Rader JL, Grigsby PW, Schwarz JK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24705275", "url": "https://glygen.org/publication/PubMed/24705275" } ] }, { "title": "Endothelin A receptor antagonism enhances inhibitory effects of anti-ganglioside GD2 monoclonal antibody on invasiveness and viability of human osteosarcoma cells.", "journal": "PloS one", "date": "2014", "authors": "Liu Bo, Wu Yi, Zhou Yu, Peng Dan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24727660", "url": "https://glygen.org/publication/PubMed/24727660" } ] }, { "title": "Piperlongumine, an alkaloid causes inhibition of PI3 K/Akt/mTOR signaling axis to induce caspase-dependent apoptosis in human triple-negative breast cancer cells.", "journal": "Apoptosis : an international journal on programmed cell death", "date": "2014", "authors": "Shrivastava S, Kulkarni P, Thummuri D, Jeengar MK, Naidu VG, Alvala M, Redddy GB, Ramakrishna S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24729100", "url": "https://glygen.org/publication/PubMed/24729100" } ] }, { "title": "Akt and PI3K-dependent but CREB-independent upregulation of MCAM by endothelin-3 in human melanocytes.", "journal": "Melanoma research", "date": "2014", "authors": "Williams B, Schneider RJ, Jamal S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24743054", "url": "https://glygen.org/publication/PubMed/24743054" } ] }, { "title": "Opposing effects of PI3K/Akt and Smad-dependent signaling pathways in NAG-1-induced glioblastoma cell apoptosis.", "journal": "PloS one", "date": "2014", "authors": "Zhang Z, Wu L, Wang J, Li G, Feng D, Zhang B, Li L, Yang J, Ma L, Qin H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24759784", "url": "https://glygen.org/publication/PubMed/24759784" } ] }, { "title": "Strategy to enhance the therapeutic effect of doxorubicin in human hepatocellular carcinoma by selenocystine, a synergistic agent that regulates the ROS-mediated signaling.", "journal": "Oncotarget", "date": "2014-05-15", "authors": "Fan Cundong, Zheng Wenjie, Fu Xiaoyan, Li Xiaoling, Wong Yum-Shing, Chen Tianfeng", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24797310", "url": "https://glygen.org/publication/PubMed/24797310" } ] }, { "title": "Akt: a new activation mechanism.", "journal": "Cell research", "date": "2014", "authors": "Gao Y, Moten A, Lin HK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24797432", "url": "https://glygen.org/publication/PubMed/24797432" } ] }, { "title": "Glutaminase 2 negatively regulates the PI3K/AKT signaling and shows tumor suppression activity in human hepatocellular carcinoma.", "journal": "Oncotarget", "date": "2014-05-15", "authors": "Liu Juan, Zhang Cen, Lin Meihua, Zhu Wei, Liang Yingjian, Hong Xuehui, Zhao Yuhan, Young Ken H, Hu Wenwei, Feng Zhaohui", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24797434", "url": "https://glygen.org/publication/PubMed/24797434" } ] }, { "title": "Silencing miR-21 sensitizes non-small cell lung cancer A549 cells to ionizing radiation through inhibition of PI3K/Akt.", "journal": "BioMed research international", "date": "2014", "authors": "Ma Y, Xia H, Liu Y, Li M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24804226", "url": "https://glygen.org/publication/PubMed/24804226" } ] }, { "title": "Ang (1-7) protects islet endothelial cells from palmitate-induced apoptosis by AKT, eNOS, p38 MAPK, and JNK pathways.", "journal": "Journal of diabetes research", "date": "2014", "authors": "Yuan L, Lu CL, Wang Y, Li Y, Li XY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24804268", "url": "https://glygen.org/publication/PubMed/24804268" } ] }, { "title": "IGF-1R, a target of let-7b, mediates crosstalk between IRS-2/Akt and MAPK pathways to promote proliferation of oral squamous cell carcinoma.", "journal": "Oncotarget", "date": "2014", "authors": "Gao L, Wang X, Wang X, Zhang L, Qiang C, Chang S, Ren W, Li S, Yang Y, Tong D, Chen C, Li Z, Song T, Zhi K, Huang C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24810113", "url": "https://glygen.org/publication/PubMed/24810113" } ] }, { "title": "ROS-mediated autophagy induced by dysregulation of lipid metabolism plays a protective role in colorectal cancer cells treated with gambogic acid.", "journal": "PloS one", "date": "2014", "authors": "Zhang H, Lei Y, Yuan P, Li L, Luo C, Gao R, Tian J, Feng Z, Nice EC, Sun J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24810758", "url": "https://glygen.org/publication/PubMed/24810758" } ] }, { "title": "alpha-Mangostin suppresses the viability and epithelial-mesenchymal transition of pancreatic cancer cells by downregulating the PI3K/Akt pathway.", "journal": "BioMed research international", "date": "2014", "authors": "Xu Q, Ma J, Lei J, Duan W, Sheng L, Chen X, Hu A, Wang Z, Wu Z, Wu E, Ma Q, Li X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24812621", "url": "https://glygen.org/publication/PubMed/24812621" } ] }, { "title": "Rapid estrogen signaling negatively regulates PTEN activity through phosphorylation in endometrial cancer cells.", "journal": "Hormones & cancer", "date": "2014", "authors": "Scully MM, Palacios-Helgeson LK, Wah LS, Jackson TA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24844349", "url": "https://glygen.org/publication/PubMed/24844349" } ] }, { "title": "Salidroside stimulates mitochondrial biogenesis and protects against H(2)O(2)-induced endothelial dysfunction.", "journal": "Oxidative medicine and cellular longevity", "date": "2014", "authors": "Xing S, Yang X, Li W, Bian F, Wu D, Chi J, Xu G, Zhang Y, Jin S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24868319", "url": "https://glygen.org/publication/PubMed/24868319" } ] }, { "title": "Teprotumumab, an IGF-1R blocking monoclonal antibody inhibits TSH and IGF-1 action in fibrocytes.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2014", "authors": "Chen H, Mester T, Raychaudhuri N, Kauh CY, Gupta S, Smith TJ, Douglas RS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24878056", "url": "https://glygen.org/publication/PubMed/24878056" } ] }, { "title": "FAK Inhibition disrupts a \u03b25 integrin signaling axis controlling anchorage-independent ovarian carcinoma growth.", "journal": "Molecular cancer therapeutics", "date": "2014-08", "authors": "Tancioni Isabelle, Uryu Sean, Sulzmaier Florian J, Shah Nina R, Lawson Christine, Miller Nichol L G, Jean Christine, Chen Xiao Lei, Ward Kristy K, Schlaepfer David D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24899686", "url": "https://glygen.org/publication/PubMed/24899686" } ] }, { "title": "Synthesis of Novel 3,5-Disubstituted-2-oxindole Derivatives As Antitumor Agents against Human Nonsmall Cell Lung Cancer.", "journal": "ACS medicinal chemistry letters", "date": "2013", "authors": "Nesi G, Sestito S, Mey V, Ricciardi S, Falasca M, Danesi R, Lapucci A, Breschi MC, Fogli S, Rapposelli S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24900620", "url": "https://glygen.org/publication/PubMed/24900620" } ] }, { "title": "Synaptonemal complex protein 3 is a prognostic marker in cervical cancer.", "journal": "PloS one", "date": "2014", "authors": "Cho H, Noh KH, Chung JY, Takikita M, Chung EJ, Kim BW, Hewitt SM, Kim TW, Kim JH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24905095", "url": "https://glygen.org/publication/PubMed/24905095" } ] }, { "title": "Insulin-like-growth-factor-binding-protein-3 (IGFBP-3) contrasts melanoma progression in vitro and in vivo.", "journal": "PloS one", "date": "2014", "authors": "Naspi Antimo, Panasiti Vincenzo, Abbate Franco, Roberti Vincenzo, Devirgiliis Valeria, Curzio Michela, Borghi Martina, Lozupone Francesco, Carotti Simone, Morini Sergio, Gaudio Eugenio, Calvieri Stefano, Londei Paola", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24905466", "url": "https://glygen.org/publication/PubMed/24905466" } ] }, { "title": "Interleukin-1beta mediates macrophage-induced impairment of insulin signaling in human primary adipocytes.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2014", "authors": "Gao D, Madi M, Ding C, Fok M, Steele T, Ford C, Hunter L, Bing C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24918199", "url": "https://glygen.org/publication/PubMed/24918199" } ] }, { "title": "Signaling mechanisms that suppress the cytostatic actions of rapamycin.", "journal": "PloS one", "date": "2014", "authors": "Jahn Stephan C, Law Mary E, Corsino Patrick E, Davis Bradley J, Harrison Jeffrey K, Law Brian K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24927123", "url": "https://glygen.org/publication/PubMed/24927123" } ] }, { "title": "Phosphorylation of Akt at the C-terminal tail triggers Akt activation.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2014", "authors": "Liu P, Wang Z, Wei W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24933731", "url": "https://glygen.org/publication/PubMed/24933731" } ] }, { "title": "AEG-1 promotes anoikis resistance and orientation chemotaxis in hepatocellular carcinoma cells.", "journal": "PloS one", "date": "2014", "authors": "Zhou Z, Deng H, Yan W, Luo M, Tu W, Xia Y, He J, Han P, Fu Y, Tian D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24941119", "url": "https://glygen.org/publication/PubMed/24941119" } ] }, { "title": "Tumor suppressive miRNA-34a suppresses cell proliferation and tumor growth of glioma stem cells by targeting Akt and Wnt signaling pathways.", "journal": "FEBS open bio", "date": "2014", "authors": "Rathod SS, Rani SB, Khan M, Muzumdar D, Shiras A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24944883", "url": "https://glygen.org/publication/PubMed/24944883" } ] }, { "title": "The antihypertension drug doxazosin inhibits tumor growth and angiogenesis by decreasing VEGFR-2/Akt/mTOR signaling and VEGF and HIF-1alpha expression.", "journal": "Oncotarget", "date": "2014", "authors": "Park MS, Kim BR, Dong SM, Lee SH, Kim DY, Rho SB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24952732", "url": "https://glygen.org/publication/PubMed/24952732" } ] }, { "title": "Caveolin-1 induces lamellipodia formation via an Akt-dependent pathway.", "journal": "Cancer cell international", "date": "2014", "authors": "Chanvorachote P, Chunhacha P, Pongrakhananon V", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24955034", "url": "https://glygen.org/publication/PubMed/24955034" } ] }, { "title": "Cross regulation between cGMP-dependent protein kinase and Akt in vasodilatation of porcine pulmonary artery.", "journal": "Journal of cardiovascular pharmacology", "date": "2014", "authors": "Liu J, Liu H, Li Y, Xu X, Chen Z, Liu L, Yu X, Gao Y, Dou D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24977346", "url": "https://glygen.org/publication/PubMed/24977346" } ] }, { "title": "CCR6 is a prognostic marker for overall survival in patients with colorectal cancer, and its overexpression enhances metastasis in vivo.", "journal": "PloS one", "date": "2014", "authors": "Liu J, Ke F, Xu Z, Liu Z, Zhang L, Yan S, Wang Z, Wang H, Wang H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24979261", "url": "https://glygen.org/publication/PubMed/24979261" } ] }, { "title": "Loss of ARID1A expression sensitizes cancer cells to PI3K- and AKT-inhibition.", "journal": "Oncotarget", "date": "2014", "authors": "Samartzis EP, Gutsche K, Dedes KJ, Fink D, Stucki M, Imesch P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24979463", "url": "https://glygen.org/publication/PubMed/24979463" } ] }, { "title": "Therapeutic effects of glutamic acid in piglets challenged with deoxynivalenol.", "journal": "PloS one", "date": "2014", "authors": "Wu M, Xiao H, Ren W, Yin J, Tan B, Liu G, Li L, Nyachoti CM, Xiong X, Wu G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24984001", "url": "https://glygen.org/publication/PubMed/24984001" } ] }, { "title": "Molecular switch role of Akt in Polygonatum odoratum lectin-induced apoptosis and autophagy in human non-small cell lung cancer A549 cells.", "journal": "PloS one", "date": "2014", "authors": "Li C, Chen J, Lu B, Shi Z, Wang H, Zhang B, Zhao K, Qi W, Bao J, Wang Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24992302", "url": "https://glygen.org/publication/PubMed/24992302" } ] }, { "title": "MK2206 inhibits hepatocellular carcinoma cellular proliferation via induction of apoptosis and cell cycle arrest.", "journal": "The Journal of surgical research", "date": "2014", "authors": "Wilson JM, Kunnimalaiyaan S, Gamblin TC, Kunnimalaiyaan M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24996256", "url": "https://glygen.org/publication/PubMed/24996256" } ] }, { "title": "Snail regulates Nanog status during the epithelial-mesenchymal transition via the Smad1/Akt/GSK3beta signaling pathway in non-small-cell lung cancer.", "journal": "Oncotarget", "date": "2014", "authors": "Liu CW, Li CH, Peng YJ, Cheng YW, Chen HW, Liao PL, Kang JJ, Yeng MH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25003810", "url": "https://glygen.org/publication/PubMed/25003810" } ] }, { "title": "Combined therapy with RAD001 e BEZ235 overcomes resistance of PET immortalized cell lines to mTOR inhibition.", "journal": "Oncotarget", "date": "2014", "authors": "Passacantilli I, Capurso G, Archibugi L, Calabretta S, Caldarola S, Loreni F, Delle Fave G, Sette C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25026292", "url": "https://glygen.org/publication/PubMed/25026292" } ] }, { "title": "PP242 suppresses cell proliferation, metastasis, and angiogenesis of gastric cancer through inhibition of the PI3K/AKT/mTOR pathway.", "journal": "Anti-cancer drugs", "date": "2014", "authors": "Xing X, Zhang L, Wen X, Wang X, Cheng X, Du H, Hu Y, Li L, Dong B, Li Z, Ji J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25035961", "url": "https://glygen.org/publication/PubMed/25035961" } ] }, { "title": "Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment.", "journal": "Clinical endocrinology", "date": "2015", "authors": "Juanes M, Guercio G, Marino R, Berensztein E, Warman DM, Ciaccio M, Gil S, Bailez M, Rivarola MA, Belgorosky A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25040157", "url": "https://glygen.org/publication/PubMed/25040157" } ] }, { "title": "Characterising the inhibitory actions of ceramide upon insulin signaling in different skeletal muscle cell models: a mechanistic insight.", "journal": "PloS one", "date": "2014", "authors": "Mahfouz R, Khoury R, Blachnio-Zabielska A, Turban S, Loiseau N, Lipina C, Stretton C, Bourron O, Ferre P, Foufelle F, Hundal HS, Hajduch E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25058613", "url": "https://glygen.org/publication/PubMed/25058613" } ] }, { "title": "Pyrrolidinium fullerene induces apoptosis by activation of procaspase-9 via suppression of Akt in primary effusion lymphoma.", "journal": "Biochemical and biophysical research communications", "date": "2014", "authors": "Watanabe T, Nakamura S, Ono T, Ui S, Yagi S, Kagawa H, Watanabe H, Ohe T, Mashino T, Fujimuro M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25063029", "url": "https://glygen.org/publication/PubMed/25063029" } ] }, { "title": "Embryonic Stem Cells Promoting Macrophage Survival and Function are Crucial for Teratoma Development.", "journal": "Frontiers in immunology", "date": "2014", "authors": "Chen T, Wang X, Guo L, Wu M, Duan Z, Lv J, Tai W, Renganathan H, Didier R, Li J, Sun D, Chen X, He X, Fan J, Young W, Ren Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25071759", "url": "https://glygen.org/publication/PubMed/25071759" } ] }, { "title": "Zuo Jin Wan reverses P-gp-mediated drug-resistance by inhibiting activation of the PI3K/Akt/NF-kappaB pathway.", "journal": "BMC complementary and alternative medicine", "date": "2014", "authors": "Sui H, Pan SF, Feng Y, Jin BH, Liu X, Zhou LH, Hou FG, Wang WH, Fu XL, Han ZF, Ren JL, Shi XL, Zhu HR, Li Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25085593", "url": "https://glygen.org/publication/PubMed/25085593" } ] }, { "title": "Ampelopsin-induced autophagy protects breast cancer cells from apoptosis through Akt-mTOR pathway via endoplasmic reticulum stress.", "journal": "Cancer science", "date": "2014-10", "authors": "Zhou Yong, Liang Xinyu, Chang Hui, Shu Furong, Wu Ying, Zhang Ting, Fu Yujie, Zhang Qianyong, Zhu Jun-Dong, Mi Mantian", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25088800", "url": "https://glygen.org/publication/PubMed/25088800" } ] }, { "title": "Constitutive AKT activation in follicular lymphoma.", "journal": "BMC cancer", "date": "2014", "authors": "Yahiaoui OI, Nunes JA, Castanier C, Devillier R, Broussais F, Fabre AJ, Naimi D, Bouabdallah R, Olive D, Xerri L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25096023", "url": "https://glygen.org/publication/PubMed/25096023" } ] }, { "title": "p85 protein expression is associated with poor survival in HER2-positive patients with advanced breast cancer treated with trastuzumab.", "journal": "Pathology oncology research : POR", "date": "2015", "authors": "Pavlakis K, Bobos M, Batistatou A, Kotoula V, Eleftheraki AG, Stofas A, Timotheadou E, Pentheroudakis G, Psyrri A, Koutras A, Pectasides D, Papakostas P, Razis E, Christodoulou C, Kalogeras KT, Fountzilas G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25098276", "url": "https://glygen.org/publication/PubMed/25098276" } ] }, { "title": "CIP2A regulates cell proliferation via the AKT signaling pathway in human lung cancer.", "journal": "Oncology reports", "date": "2014", "authors": "Lei N, Peng B, Zhang JY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25109354", "url": "https://glygen.org/publication/PubMed/25109354" } ] }, { "title": "Atorvastatin represses the angiotensin 2-induced oxidative stress and inflammatory response in dendritic cells via the PI3K/Akt/Nrf 2 pathway.", "journal": "Oxidative medicine and cellular longevity", "date": "2014", "authors": "Ma Y, Chen Z, Zou Y, Ge J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25110549", "url": "https://glygen.org/publication/PubMed/25110549" } ] }, { "title": "Down-modulation of Bcl-2 sensitizes PTEN-mutated prostate cancer cells to starvation and taxanes.", "journal": "The Prostate", "date": "2014", "authors": "Calastretti A, Gatti G, Quaresmini C, Bevilacqua A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25111376", "url": "https://glygen.org/publication/PubMed/25111376" } ] }, { "title": "Epidermal growth factor stimulates nuclear factor-kappaB activation and heme oxygenase-1 expression via c-Src, NADPH oxidase, PI3K, and Akt in human colon cancer cells.", "journal": "PloS one", "date": "2014", "authors": "Lien GS, Wu MS, Bien MY, Chen CH, Lin CH, Chen BC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25122478", "url": "https://glygen.org/publication/PubMed/25122478" } ] }, { "title": "The flavones apigenin and luteolin induce FOXO1 translocation but inhibit gluconeogenic and lipogenic gene expression in human cells.", "journal": "PloS one", "date": "2014", "authors": "Bumke-Vogt C, Osterhoff MA, Borchert A, Guzman-Perez V, Sarem Z, Birkenfeld AL, Bahr V, Pfeiffer AF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25136826", "url": "https://glygen.org/publication/PubMed/25136826" } ] }, { "title": "In vitro multifaceted activities of a specific group of novel phosphatidylinositol 3-kinase inhibitors on hotspot mutant PIK3CA.", "journal": "Investigational new drugs", "date": "2014-12", "authors": "Kong Dexin, Yamori Takao, Yamazaki Kanami, Dan Shingo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25152245", "url": "https://glygen.org/publication/PubMed/25152245" } ] }, { "title": "The anti-tumor activator sMEK1 and paclitaxel additively decrease expression of HIF-1alpha and VEGF via mTORC1-S6K/4E-BP-dependent signaling pathways.", "journal": "Oncotarget", "date": "2014", "authors": "Kim BR, Yoon K, Byun HJ, Seo SH, Lee SH, Rho SB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25153728", "url": "https://glygen.org/publication/PubMed/25153728" } ] }, { "title": "Macrophage migration inhibitory factor engages PI3K/Akt signalling and is a prognostic factor in metastatic melanoma.", "journal": "BMC cancer", "date": "2014", "authors": "Oliveira CS, de Bock CE, Molloy TJ, Sadeqzadeh E, Geng XY, Hersey P, Zhang XD, Thorne RF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25168062", "url": "https://glygen.org/publication/PubMed/25168062" } ] }, { "title": "Characterization of VPS34-IN1, a selective inhibitor of Vps34, reveals that the phosphatidylinositol 3-phosphate-binding SGK3 protein kinase is a downstream target of class III phosphoinositide 3-kinase.", "journal": "The Biochemical journal", "date": "2014", "authors": "Bago R, Malik N, Munson MJ, Prescott AR, Davies P, Sommer E, Shpiro N, Ward R, Cross D, Ganley IG, Alessi DR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25177796", "url": "https://glygen.org/publication/PubMed/25177796" } ] }, { "title": "YAC tripeptide of epidermal growth factor promotes the proliferation of HaCaT keratinocytes through activation of EGFR.", "journal": "BMB reports", "date": "2014", "authors": "Yoo YH, Kim YR, Kim MS, Lee KJ, Park KH, Hahn JH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25179402", "url": "https://glygen.org/publication/PubMed/25179402" } ] }, { "title": "Unspliced X-box-binding protein 1 (XBP1) protects endothelial cells from oxidative stress through interaction with histone deacetylase 3.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Martin D, Li Y, Yang J, Wang G, Margariti A, Jiang Z, Yu H, Zampetaki A, Hu Y, Xu Q, Zeng L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25190803", "url": "https://glygen.org/publication/PubMed/25190803" } ] }, { "title": "Smurf2 E3 ubiquitin ligase modulates proliferation and invasiveness of breast cancer cells in a CNKSR2 dependent manner.", "journal": "Cell division", "date": "2014", "authors": "David D, Jagadeeshan S, Hariharan R, Nair AS, Pillai RM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25191523", "url": "https://glygen.org/publication/PubMed/25191523" } ] }, { "title": "Tumor suppressor miR-1 restrains epithelial-mesenchymal transition and metastasis of colorectal carcinoma via the MAPK and PI3K/AKT pathway.", "journal": "Journal of translational medicine", "date": "2014", "authors": "Xu L, Zhang Y, Wang H, Zhang G, Ding Y, Zhao L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25196260", "url": "https://glygen.org/publication/PubMed/25196260" } ] }, { "title": "Overcoming endocrine resistance due to reduced PTEN levels in estrogen receptor-positive breast cancer by co-targeting mammalian target of rapamycin, protein kinase B, or mitogen-activated protein kinase kinase.", "journal": "Breast cancer research : BCR", "date": "2014", "authors": "Fu X, Creighton CJ, Biswal NC, Kumar V, Shea M, Herrera S, Contreras A, Gutierrez C, Wang T, Nanda S, Giuliano M, Morrison G, Nardone A, Karlin KL, Westbrook TF, Heiser LM, Anur P, Spellman P, Guichard SM, Smith PD, Davies BR, Klinowska T, Lee AV, Mills GB, Rimawi MF, Hilsenbeck SG, Gray JW, Joshi A, Osborne CK, Schiff R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25212826", "url": "https://glygen.org/publication/PubMed/25212826" } ] }, { "title": "Antitumor effect of the tyrosine kinase inhibitor nilotinib on gastrointestinal stromal tumor (GIST) and imatinib-resistant GIST cells.", "journal": "PloS one", "date": "2014", "authors": "Sako H, Fukuda K, Saikawa Y, Nakamura R, Takahashi T, Wada N, Kawakubo H, Takeuchi H, Ohmori T, Kitagawa Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25221952", "url": "https://glygen.org/publication/PubMed/25221952" } ] }, { "title": "Molecular rationale for the use of PI3K/AKT/mTOR pathway inhibitors in combination with crizotinib in ALK-mutated neuroblastoma.", "journal": "Oncotarget", "date": "2014", "authors": "Moore NF, Azarova AM, Bhatnagar N, Ross KN, Drake LE, Frumm S, Liu QS, Christie AL, Sanda T, Chesler L, Kung AL, Gray NS, Stegmaier K, George RE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25228590", "url": "https://glygen.org/publication/PubMed/25228590" } ] }, { "title": "Maternal zinc supplementation enhanced skeletal muscle development through increasing protein synthesis and inhibiting protein degradation of their offspring.", "journal": "Biological trace element research", "date": "2014-12", "authors": "Gao Jing, Lv Zengpeng, Li Changwu, Yue Yunshuang, Zhao Xu, Wang Fenglai, Guo Yuming", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25231347", "url": "https://glygen.org/publication/PubMed/25231347" } ] }, { "title": "EphA3, induced by PC-1/PrLZ, contributes to the malignant progression of prostate cancer.", "journal": "Oncology reports", "date": "2014-12", "authors": "Wu Ruiqin, Wang Hongtao, Wang Jian, Wang Peng, Huang Fang, Xie Bangxiang, Zhao Yali, Li Shanhu, Zhou Jianguang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25231727", "url": "https://glygen.org/publication/PubMed/25231727" } ] }, { "title": "Destabilization of akt promotes the death of myeloma cell lines.", "journal": "BioMed research international", "date": "2014", "authors": "Zhang Y, Fu Y, Zhang F, Liu J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25243120", "url": "https://glygen.org/publication/PubMed/25243120" } ] }, { "title": "Targeting the raft-associated Akt signaling in hepatocellular carcinoma.", "journal": "BioMed research international", "date": "2014", "authors": "Liu Yuan, Lv Ji-Yun, Shi Jian-Fei, Yang Mei, Liu Shu-Hong, Li Zhi-Wei, Wang Hong-Bo, Zhang Shao-Geng, Liu Zhen-Wen, Ding Jin-Biao, Xu Dong-Ping, Zhao Jing-Min", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25243186", "url": "https://glygen.org/publication/PubMed/25243186" } ] }, { "title": "Annexin A5 promotes invasion and chemoresistance to temozolomide in glioblastoma multiforme cells.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2014", "authors": "Wu L, Yang L, Xiong Y, Guo H, Shen X, Cheng Z, Zhang Y, Gao Z, Zhu X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25245332", "url": "https://glygen.org/publication/PubMed/25245332" } ] }, { "title": "INPP4B suppresses prostate cancer cell invasion.", "journal": "Cell communication and signaling : CCS", "date": "2014", "authors": "Hodgson MC, Deryugina EI, Suarez E, Lopez SM, Lin D, Xue H, Gorlov IP, Wang Y, Agoulnik IU", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25248616", "url": "https://glygen.org/publication/PubMed/25248616" } ] }, { "title": "Inhibition of autophagy via activation of PI3K/Akt pathway contributes to the protection of ginsenoside Rb1 against neuronal death caused by ischemic insults.", "journal": "International journal of molecular sciences", "date": "2014", "authors": "Luo T, Liu G, Ma H, Lu B, Xu H, Wang Y, Wu J, Ge P, Liang J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25257523", "url": "https://glygen.org/publication/PubMed/25257523" } ] }, { "title": "Lanthionine synthetase C-like protein 2 (LanCL2) is a novel regulator of Akt.", "journal": "Molecular biology of the cell", "date": "2014", "authors": "Zeng M, van der Donk WA, Chen J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25273559", "url": "https://glygen.org/publication/PubMed/25273559" } ] }, { "title": "Estrogen receptor alpha prevents bladder cancer via INPP4B inhibited akt pathway in vitro and in vivo.", "journal": "Oncotarget", "date": "2014", "authors": "Hsu I, Yeh CR, Slavin S, Miyamoto H, Netto GJ, Tsai YC, Muyan M, Wu XR, Messing EM, Guancial EA, Yeh S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25277204", "url": "https://glygen.org/publication/PubMed/25277204" } ] }, { "title": "microRNA regulation of mammalian target of rapamycin expression and activity controls estrogen receptor function and RAD001 sensitivity.", "journal": "Molecular cancer", "date": "2014-10-06", "authors": "Martin Elizabeth C, Rhodes Lyndsay V, Elliott Steven, Krebs Adrienne E, Nephew Kenneth P, Flemington Erik K, Collins-Burow Bridgette M, Burow Matthew E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25283550", "url": "https://glygen.org/publication/PubMed/25283550" } ] }, { "title": "let-7b/g silencing activates AKT signaling to promote gastric carcinogenesis.", "journal": "Journal of translational medicine", "date": "2014", "authors": "Kang W, Tong JH, Lung RW, Dong Y, Yang W, Pan Y, Lau KM, Yu J, Cheng AS, To KF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25288334", "url": "https://glygen.org/publication/PubMed/25288334" } ] }, { "title": "Involvement of the Akt signaling pathway in ER-alpha36/GRP94-mediated signaling in gastric cancer.", "journal": "Oncology letters", "date": "2014", "authors": "Fu Z, Zhen H, Zou F, Wang X, Chen Y, Liu L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25295093", "url": "https://glygen.org/publication/PubMed/25295093" } ] }, { "title": "CAMK2N1 inhibits prostate cancer progression through androgen receptor-dependent signaling.", "journal": "Oncotarget", "date": "2014", "authors": "Wang T, Guo S, Liu Z, Wu L, Li M, Yang J, Chen R, Liu X, Xu H, Cai S, Chen H, Li W, Xu S, Wang L, Hu Z, Zhuang Q, Wang L, Wu K, Liu J, Ye Z, Ji JY, Wang C, Chen K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25296973", "url": "https://glygen.org/publication/PubMed/25296973" } ] }, { "title": "Activity of the novel mTOR inhibitor Torin-2 in B-precursor acute lymphoblastic leukemia and its therapeutic potential to prevent Akt reactivation.", "journal": "Oncotarget", "date": "2014", "authors": "Simioni C, Cani A, Martelli AM, Zauli G, Tabellini G, McCubrey J, Capitani S, Neri LM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25296981", "url": "https://glygen.org/publication/PubMed/25296981" } ] }, { "title": "Muscle p70S6K phosphorylation in response to soy and dairy rich meals in middle aged men with metabolic syndrome: a randomised crossover trial.", "journal": "Nutrition & metabolism", "date": "2014", "authors": "Gran P, Larsen AE, Bonham M, Dordevic AL, Rupasinghe T, Silva C, Nahid A, Tull D, Sinclair AJ, Mitchell CJ, Cameron-Smith D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25302072", "url": "https://glygen.org/publication/PubMed/25302072" } ] }, { "title": "SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS.", "journal": "Leukemia", "date": "2015-04", "authors": "Inoue D, Kitaura J, Matsui H, Hou H-A, Chou W-C, Nagamachi A, Kawabata K C, Togami K, Nagase R, Horikawa S, Saika M, Micol J-B, Hayashi Y, Harada Y, Harada H, Inaba T, Tien H-F, Abdel-Wahab O, Kitamura T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25306901", "url": "https://glygen.org/publication/PubMed/25306901" } ] }, { "title": "microRNA-mediated regulation of mTOR complex components facilitates discrimination between activation and anergy in CD4 T cells.", "journal": "The Journal of experimental medicine", "date": "2014", "authors": "Marcais A, Blevins R, Graumann J, Feytout A, Dharmalingam G, Carroll T, Amado IF, Bruno L, Lee K, Walzer T, Mann M, Freitas AA, Boothby M, Fisher AG, Merkenschlager M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25311506", "url": "https://glygen.org/publication/PubMed/25311506" } ] }, { "title": "Phosphoproteomics reveals resveratrol-dependent inhibition of Akt/mTORC1/S6K1 signaling.", "journal": "Journal of proteome research", "date": "2014", "authors": "Alayev A, Doubleday PF, Berger SM, Ballif BA, Holz MK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25311616", "url": "https://glygen.org/publication/PubMed/25311616" } ] }, { "title": "Simultaneous targeting of PI3Kdelta and a PI3Kdelta-dependent MEK1/2-Erk1/2 pathway for therapy in pediatric B-cell acute lymphoblastic leukemia.", "journal": "Oncotarget", "date": "2014", "authors": "Wang X, Zhang X, Li BS, Zhai X, Yang Z, Ding LX, Wang H, Liang C, Zhu W, Ding J, Meng LH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25313141", "url": "https://glygen.org/publication/PubMed/25313141" } ] }, { "title": "Squamosamide derivative FLZ protects retinal pigment epithelium cells from oxidative stress through activation of epidermal growth factor receptor (EGFR)-AKT signaling.", "journal": "International journal of molecular sciences", "date": "2014", "authors": "Cheng LB, Chen CM, Zhong H, Zhu LJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25329617", "url": "https://glygen.org/publication/PubMed/25329617" } ] }, { "title": "Diacylglycerol kinase alpha promotes 3D cancer cell growth and limits drug sensitivity through functional interaction with Src.", "journal": "Oncotarget", "date": "2014", "authors": "Torres-Ayuso P, Daza-Martin M, Martin-Perez J, Avila-Flores A, Merida I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25339152", "url": "https://glygen.org/publication/PubMed/25339152" } ] }, { "title": "Overcoming acquired resistance to cetuximab by dual targeting HER family receptors with antibody-based therapy.", "journal": "Molecular cancer", "date": "2014", "authors": "Iida M, Brand TM, Starr MM, Huppert EJ, Luthar N, Bahrar H, Coan JP, Pearson HE, Salgia R, Wheeler DL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25344208", "url": "https://glygen.org/publication/PubMed/25344208" } ] }, { "title": "Activation of Akt at T308 and S473 in alcohol, tobacco and HPV-induced HNSCC: is there evidence to support a prognostic or diagnostic role?", "journal": "Experimental hematology & oncology", "date": "2014", "authors": "Islam MR, Ellis IR, Macluskey M, Cochrane L, Jones SJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25352995", "url": "https://glygen.org/publication/PubMed/25352995" } ] }, { "title": "TNFalpha-mediated loss of beta-catenin/E-cadherin association and subsequent increase in cell migration is partially restored by NKX3.1 expression in prostate cells.", "journal": "PloS one", "date": "2014", "authors": "Debelec-Butuner B, Alapinar C, Ertunc N, Gonen-Korkmaz C, Yorukoglu K, Korkmaz KS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25360740", "url": "https://glygen.org/publication/PubMed/25360740" } ] }, { "title": "Targeting cytosolic phospholipase A2 alpha in colorectal cancer cells inhibits constitutively activated protein kinase B (AKT) and cell proliferation.", "journal": "Oncotarget", "date": "2014", "authors": "Zheng Z, He X, Xie C, Hua S, Li J, Wang T, Yao M, Vignarajan S, Teng Y, Hejazi L, Liu B, Dong Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25365190", "url": "https://glygen.org/publication/PubMed/25365190" } ] }, { "title": "Fibroblast growth factor 21 improves insulin sensitivity and synergizes with insulin in human adipose stem cell-derived (hASC) adipocytes.", "journal": "PloS one", "date": "2014", "authors": "Lee DV, Li D, Yan Q, Zhu Y, Goodwin B, Calle R, Brenner MB, Talukdar S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25365322", "url": "https://glygen.org/publication/PubMed/25365322" } ] }, { "title": "First-in-human phase I study of pictilisib (GDC-0941), a potent pan-class I phosphatidylinositol-3-kinase (PI3K) inhibitor, in patients with advanced solid tumors.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2015", "authors": "Sarker D, Ang JE, Baird R, Kristeleit R, Shah K, Moreno V, Clarke PA, Raynaud FI, Levy G, Ware JA, Mazina K, Lin R, Wu J, Fredrickson J, Spoerke JM, Lackner MR, Yan Y, Friedman LS, Kaye SB, Derynck MK, Workman P, de Bono JS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25370471", "url": "https://glygen.org/publication/PubMed/25370471" } ] }, { "title": "Effects of insulin on human pancreatic cancer progression modeled in vitro.", "journal": "BMC cancer", "date": "2014", "authors": "Chan MT, Lim GE, Skovso S, Yang YH, Albrecht T, Alejandro EU, Hoesli CA, Piret JM, Warnock GL, Johnson JD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25373319", "url": "https://glygen.org/publication/PubMed/25373319" } ] }, { "title": "Niacin activates the PI3K/Akt cascade via PKC- and EGFR-transactivation-dependent pathways through hydroxyl-carboxylic acid receptor 2.", "journal": "PloS one", "date": "2014", "authors": "Sun H, Li G, Zhang W, Zhou Q, Yu Y, Shi Y, Offermanns S, Lu J, Zhou N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25375133", "url": "https://glygen.org/publication/PubMed/25375133" } ] }, { "title": "Alteration in mitochondrial Ca(2+) uptake disrupts insulin signaling in hypertrophic cardiomyocytes.", "journal": "Cell communication and signaling : CCS", "date": "2014", "authors": "Gutierrez T, Parra V, Troncoso R, Pennanen C, Contreras-Ferrat A, Vasquez-Trincado C, Morales PE, Lopez-Crisosto C, Sotomayor-Flores C, Chiong M, Rothermel BA, Lavandero S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25376904", "url": "https://glygen.org/publication/PubMed/25376904" } ] }, { "title": "Glucose uptake in brown fat cells is dependent on mTOR complex 2-promoted GLUT1 translocation.", "journal": "The Journal of cell biology", "date": "2014", "authors": "Olsen JM, Sato M, Dallner OS, Sandstrom AL, Pisani DF, Chambard JC, Amri EZ, Hutchinson DS, Bengtsson T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25385184", "url": "https://glygen.org/publication/PubMed/25385184" } ] }, { "title": "Phosphorylation of AKT(Ser473) serves as an independent prognostic marker for radiosensitivity in advanced head and neck squamous cell carcinoma.", "journal": "International journal of cancer", "date": "2015", "authors": "Freudlsperger C, Horn D, Weissfuss S, Weichert W, Weber KJ, Saure D, Sharma S, Dyckhoff G, Grabe N, Plinkert P, Hoffmann J, Freier K, Hess J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25388642", "url": "https://glygen.org/publication/PubMed/25388642" } ] }, { "title": "Ciliary transport regulates PDGF-AA/\u03b1\u03b1 signaling via elevated mammalian target of rapamycin signaling and diminished PP2A activity.", "journal": "Molecular biology of the cell", "date": "2015-01-15", "authors": "Umberger Nicole L, Caspary Tamara", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25392303", "url": "https://glygen.org/publication/PubMed/25392303" } ] }, { "title": "CEACAM6 promotes gastric cancer invasion and metastasis by inducing epithelial-mesenchymal transition via PI3K/AKT signaling pathway.", "journal": "PloS one", "date": "2014", "authors": "Zang Mingde, Zhang Baogui, Zhang Yunqiang, Li Jianfang, Su Liping, Zhu Zhenggang, Gu Qinlong, Liu Bingya, Yan Min", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25398131", "url": "https://glygen.org/publication/PubMed/25398131" } ] }, { "title": "Human pre-B cell receptor signal transduction: evidence for distinct roles of PI3kinase and MAP-kinase signalling pathways.", "journal": "Immunity, inflammation and disease", "date": "2013", "authors": "Anbazhagan K, Rabbind Singh A, Isabelle P, Stella I, Celine AD, Bissac E, Bertrand B, Remy N, Naomi T, Vincent F, Rochette J, Lassoued K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25400915", "url": "https://glygen.org/publication/PubMed/25400915" } ] }, { "title": "Selective inhibition of RET mediated cell proliferation in vitro by the kinase inhibitor SPP86.", "journal": "BMC cancer", "date": "2014", "authors": "Alao JP, Michlikova S, Diner P, Grotli M, Sunnerhagen P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25409876", "url": "https://glygen.org/publication/PubMed/25409876" } ] }, { "title": "The N-terminal region of p27 inhibits HIF-1alpha protein translation in ribosomal protein S6-dependent manner by regulating PHLPP-Ras-ERK-p90RSK axis.", "journal": "Cell death & disease", "date": "2014", "authors": "Zhang D, Liu J, Mi X, Liang Y, Li J, Huang C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25412313", "url": "https://glygen.org/publication/PubMed/25412313" } ] }, { "title": "Convergent regulation of neuronal differentiation and Erk and Akt kinases in human neural progenitor cells by lysophosphatidic acid, sphingosine 1-phosphate, and LIF: specific roles for the LPA1 receptor.", "journal": "ASN neuro", "date": "2014", "authors": "Callihan Phillip, Ali Mourad W, Salazar Hector, Quach Nhat, Wu Xian, Stice Steven L, Hooks Shelley B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25424429", "url": "https://glygen.org/publication/PubMed/25424429" } ] }, { "title": "GLI inhibitor GANT-61 diminishes embryonal and alveolar rhabdomyosarcoma growth by inhibiting Shh/AKT-mTOR axis.", "journal": "Oncotarget", "date": "2014", "authors": "Srivastava RK, Kaylani SZ, Edrees N, Li C, Talwelkar SS, Xu J, Palle K, Pressey JG, Athar M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25432075", "url": "https://glygen.org/publication/PubMed/25432075" } ] }, { "title": "Oncogenic signaling in amphiregulin and EGFR-expressing PTEN-null human breast cancer.", "journal": "Molecular oncology", "date": "2015", "authors": "Kappler CS, Guest ST, Irish JC, Garrett-Mayer E, Kratche Z, Wilson RC, Ethier SP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25454348", "url": "https://glygen.org/publication/PubMed/25454348" } ] }, { "title": "SIN1, a critical component of the mTOR-Rictor complex, is overexpressed and associated with AKT activation in medullary and aggressive papillary thyroid carcinomas.", "journal": "Surgery", "date": "2014", "authors": "Moraitis D, Karanikou M, Liakou C, Dimas K, Tzimas G, Tseleni-Balafouta S, Patsouris E, Rassidakis GZ, Kouvaraki MA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25456951", "url": "https://glygen.org/publication/PubMed/25456951" } ] }, { "title": "P7170, a novel inhibitor of mTORC1/mTORC2 and Activin receptor-like Kinase 1 (ALK1) inhibits the growth of non small cell lung cancer.", "journal": "Molecular cancer", "date": "2014-12-02", "authors": "Venkatesha Venkatasubbaiah A, Joshi Asavari, Venkataraman Magesh, Sonawane Vinay, Bhatia Dimple, Tannu Prashant, Bose Julie, Choudhari Sarika, Srivastava Ankita, Pandey Prashant Kumar, Lad Vaibhavi J, Sangana Ramachandra, Ahmed Tausif, Damre Anagha, Deore Vijaykumar, Sahu Bichismita, Kumar Sanjay, Sharma Somesh, Agarwal Veena R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25466244", "url": "https://glygen.org/publication/PubMed/25466244" } ] }, { "title": "Basal expression of insulin-like growth factor 1 receptor determines intrinsic resistance of cancer cells to a phosphatidylinositol 3-kinase inhibitor ZSTK474.", "journal": "Cancer science", "date": "2015-02", "authors": "Isoyama Sho, Kajiwara Gensei, Tamaki Naomi, Okamura Mutsumi, Yoshimi Hisashi, Nakamura Naoki, Kawamura Kento, Nishimura Yumiko, Namatame Nachi, Yamori Takao, Dan Shingo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25483727", "url": "https://glygen.org/publication/PubMed/25483727" } ] }, { "title": "DNA damage signaling guards against perturbation of cyclin D1 expression triggered by low-dose long-term fractionated radiation.", "journal": "Oncogenesis", "date": "2014", "authors": "Shimura T, Kobayashi J, Komatsu K, Kunugita N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25486524", "url": "https://glygen.org/publication/PubMed/25486524" } ] }, { "title": "Knockdown of platinum-induced growth differentiation factor 15 abrogates p27-mediated tumor growth delay in the chemoresistant ovarian cancer model A2780cis.", "journal": "Cancer medicine", "date": "2015", "authors": "Meier JC, Haendler B, Seidel H, Groth P, Adams R, Ziegelbauer K, Kreft B, Beckmann G, Sommer A, Kopitz C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25490861", "url": "https://glygen.org/publication/PubMed/25490861" } ] }, { "title": "Differential sensitivity of prostate tumor derived endothelial cells to sorafenib and sunitinib.", "journal": "BMC cancer", "date": "2014-12-12", "authors": "Fiorio Pla Alessandra, Brossa Alessia, Bernardini Michela, Genova Tullio, Grolez Guillaume, Villers Arnaud, Leroy Xavier, Prevarskaya Natalia, Gkika Dimitra, Bussolati Benedetta", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25494980", "url": "https://glygen.org/publication/PubMed/25494980" } ] }, { "title": "Autophagy fosters myofibroblast differentiation through MTORC2 activation and downstream upregulation of CTGF.", "journal": "Autophagy", "date": "2014", "authors": "Bernard M, Dieude M, Yang B, Hamelin K, Underwood K, Hebert MJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25495560", "url": "https://glygen.org/publication/PubMed/25495560" } ] }, { "title": "Regulation of Mcl-1 expression in context to bone marrow stromal microenvironment in chronic lymphocytic leukemia.", "journal": "Neoplasia (New York, N.Y.)", "date": "2014", "authors": "Balakrishnan K, Burger JA, Fu M, Doifode T, Wierda WG, Gandhi V", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25499217", "url": "https://glygen.org/publication/PubMed/25499217" } ] }, { "title": "Glucose-dependent glucose transporter\u00a01 expression and its impact on viability of thyroid cancer cells.", "journal": "Oncology reports", "date": "2015-02", "authors": "J\u00f3\u017awiak Pawe\u0142, Krze\u015blak Anna, Bry\u015b Magdalena, Lipi\u0144ska Anna", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25502934", "url": "https://glygen.org/publication/PubMed/25502934" } ] }, { "title": "Acidosis promotes invasiveness of breast cancer cells through ROS-AKT-NF-kappaB pathway.", "journal": "Oncotarget", "date": "2014", "authors": "Gupta SC, Singh R, Pochampally R, Watabe K, Mo YY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25504433", "url": "https://glygen.org/publication/PubMed/25504433" } ] }, { "title": "HTLV-1 Tax-mediated inhibition of FOXO3a activity is critical for the persistence of terminally differentiated CD4+ T cells.", "journal": "PLoS pathogens", "date": "2014", "authors": "Olagnier D, Sze A, Bel Hadj S, Chiang C, Steel C, Han X, Routy JP, Lin R, Hiscott J, van Grevenynghe J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25521510", "url": "https://glygen.org/publication/PubMed/25521510" } ] }, { "title": "Blockade of estrogen-stimulated proliferation by a constitutively-active prolactin receptor having lower expression in invasive ductal carcinoma.", "journal": "Cancer letters", "date": "2015-03-28", "authors": "Huang Kuang-Tzu, Tan Dunyong, Chen Kuan-Hui E, Walker Ameae M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25527452", "url": "https://glygen.org/publication/PubMed/25527452" } ] }, { "title": "Loss of MLH1 confers resistance to PI3Kbeta inhibitors in renal clear cell carcinoma with SETD2 mutation.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2015", "authors": "Feng C, Ding G, Jiang H, Ding Q, Wen H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25528216", "url": "https://glygen.org/publication/PubMed/25528216" } ] }, { "title": "The differential susceptibilities of MCF-7 and MDA-MB-231 cells to the cytotoxic effects of curcumin are associated with the PI3K/Akt-SKP2-Cip/Kips pathway.", "journal": "Cancer cell international", "date": "2014", "authors": "Jia T, Zhang L, Duan Y, Zhang M, Wang G, Zhang J, Zhao Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25530715", "url": "https://glygen.org/publication/PubMed/25530715" } ] }, { "title": "mTORC2 is required for rit-mediated oxidative stress resistance.", "journal": "PloS one", "date": "2014", "authors": "Cai W, Andres DA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25531880", "url": "https://glygen.org/publication/PubMed/25531880" } ] }, { "title": "A Regulatory Network Involving beta-Catenin, e-Cadherin, PI3k/Akt, and Slug Balances Self-Renewal and Differentiation of Human Pluripotent Stem Cells In Response to Wnt Signaling.", "journal": "Stem cells (Dayton, Ohio)", "date": "2015", "authors": "Huang TS, Li L, Moalim-Nour L, Jia D, Bai J, Yao Z, Bennett SA, Figeys D, Wang L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25538040", "url": "https://glygen.org/publication/PubMed/25538040" } ] }, { "title": "Regulation and function of Myb-binding protein 1A (MYBBP1A) in cellular senescence and pathogenesis of head and neck cancer.", "journal": "Cancer letters", "date": "2015", "authors": "George B, Horn D, Bayo P, Zaoui K, Flechtenmacher C, Grabe N, Plinkert P, Krizhanovsky V, Hess J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25543088", "url": "https://glygen.org/publication/PubMed/25543088" } ] }, { "title": "Claudin-1 enhances tumor proliferation and metastasis by regulating cell anoikis in gastric cancer.", "journal": "Oncotarget", "date": "2015", "authors": "Huang J, Zhang L, He C, Qu Y, Li J, Zhang J, Du T, Chen X, Yu Y, Liu B, Zhu Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25544763", "url": "https://glygen.org/publication/PubMed/25544763" } ] }, { "title": "A kinase-independent function of AKT promotes cancer cell survival.", "journal": "eLife", "date": "2014", "authors": "Vivanco I, Chen ZC, Tanos B, Oldrini B, Hsieh WY, Yannuzzi N, Campos C, Mellinghoff IK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25551293", "url": "https://glygen.org/publication/PubMed/25551293" } ] }, { "title": "Treg cells require the phosphatase PTEN to restrain TH1 and TFH cell responses.", "journal": "Nature immunology", "date": "2015-02", "authors": "Shrestha Sharad, Yang Kai, Guy Cliff, Vogel Peter, Neale Geoffrey, Chi Hongbo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25559258", "url": "https://glygen.org/publication/PubMed/25559258" } ] }, { "title": "Attenuation of the phosphatidylinositol 3-kinase/Akt signaling pathway by Porphyromonas gingivalis gingipains RgpA, RgpB, and Kgp.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Nakayama M, Inoue T, Naito M, Nakayama K, Ohara N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25564612", "url": "https://glygen.org/publication/PubMed/25564612" } ] }, { "title": "Overexpression of PAK1 promotes cell survival in inflammatory bowel diseases and colitis-associated cancer.", "journal": "Inflammatory bowel diseases", "date": "2015", "authors": "Khare V, Dammann K, Asboth M, Krnjic A, Jambrich M, Gasche C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25569743", "url": "https://glygen.org/publication/PubMed/25569743" } ] }, { "title": "The roles of akt isoforms in the regulation of podosome formation in fibroblasts and extracellular matrix invasion.", "journal": "Cancers", "date": "2015-01-07", "authors": "Eves Robert, Oldham Robyn, Jia Lilly, Mak Alan S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25575302", "url": "https://glygen.org/publication/PubMed/25575302" } ] }, { "title": "Role of phosphoinositide 3-kinase IA (PI3K-IA) activation in cardioprotection induced by ouabain preconditioning.", "journal": "Journal of molecular and cellular cardiology", "date": "2015-03", "authors": "Duan Qiming, Madan Namrata D, Wu Jian, Kalisz Jennifer, Doshi Krunal Y, Haldar Saptarsi M, Liu Lijun, Pierre Sandrine V", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25575882", "url": "https://glygen.org/publication/PubMed/25575882" } ] }, { "title": "Phosphorylation of the translation initiation factor eIF2alpha at serine 51 determines the cell fate decisions of Akt in response to oxidative stress.", "journal": "Cell death & disease", "date": "2015", "authors": "Rajesh K, Krishnamoorthy J, Kazimierczak U, Tenkerian C, Papadakis AI, Wang S, Huang S, Koromilas AE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25590801", "url": "https://glygen.org/publication/PubMed/25590801" } ] }, { "title": "CRIPTO overexpression promotes mesenchymal differentiation in prostate carcinoma cells through parallel regulation of AKT and FGFR activities.", "journal": "Oncotarget", "date": "2015", "authors": "Terry S, El-Sayed IY, Destouches D, Maille P, Nicolaiew N, Ploussard G, Semprez F, Pimpie C, Beltran H, Londono-Vallejo A, Allory Y, de la Taille A, Salomon DS, Vacherot F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25596738", "url": "https://glygen.org/publication/PubMed/25596738" } ] }, { "title": "The PI3K inhibitor GDC-0941 displays promising in vitro and in vivo efficacy for targeted medulloblastoma therapy.", "journal": "Oncotarget", "date": "2015-01-20", "authors": "Ehrhardt Michael, Craveiro Rogerio B, Holst Martin I, Pietsch Torsten, Dilloo Dagmar", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25596739", "url": "https://glygen.org/publication/PubMed/25596739" } ] }, { "title": "Cathelicidin, an antimicrobial peptide produced by macrophages, promotes colon cancer by activating the Wnt/beta-catenin pathway.", "journal": "Oncotarget", "date": "2015", "authors": "Li D, Liu W, Wang X, Wu J, Quan W, Yao Y, Bals R, Ji S, Wu K, Guo J, Wan H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25596747", "url": "https://glygen.org/publication/PubMed/25596747" } ] }, { "title": "Reversal of radiocontrast medium toxicity in human renal proximal tubular cells by white grape juice extract.", "journal": "Chemico-biological interactions", "date": "2015", "authors": "Andreucci M, Faga T, Pisani A, Sabbatini M, Russo D, Mattivi F, De Sarro G, Navarra M, Michael A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25603236", "url": "https://glygen.org/publication/PubMed/25603236" } ] }, { "title": "Ophiobolin O isolated from Aspergillus ustus induces G1 arrest of MCF-7 cells through interaction with AKT/GSK3beta/cyclin D1 signaling.", "journal": "Marine drugs", "date": "2015", "authors": "Lv C, Qin W, Zhu T, Wei S, Hong K, Zhu W, Chen R, Huang C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25603341", "url": "https://glygen.org/publication/PubMed/25603341" } ] }, { "title": "Translationally controlled tumor protein induces epithelial to mesenchymal transition and promotes cell migration, invasion and metastasis.", "journal": "Scientific reports", "date": "2015", "authors": "Bae SY, Kim HJ, Lee KJ, Lee K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25622969", "url": "https://glygen.org/publication/PubMed/25622969" } ] }, { "title": "SPOCK1 as a potential cancer prognostic marker promotes the proliferation and metastasis of gallbladder cancer cells by activating the PI3K/AKT pathway.", "journal": "Molecular cancer", "date": "2015", "authors": "Shu YJ, Weng H, Ye YY, Hu YP, Bao RF, Cao Y, Wang XA, Zhang F, Xiang SS, Li HF, Wu XS, Li ML, Jiang L, Lu W, Han BS, Jie ZG, Liu YB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25623055", "url": "https://glygen.org/publication/PubMed/25623055" } ] }, { "title": "Alisertib, an Aurora kinase A inhibitor, induces apoptosis and autophagy but inhibits epithelial to mesenchymal transition in human epithelial ovarian cancer cells.", "journal": "Drug design, development and therapy", "date": "2015", "authors": "Ding YH, Zhou ZW, Ha CF, Zhang XY, Pan ST, He ZX, Edelman JL, Wang D, Yang YX, Zhang X, Duan W, Yang T, Qiu JX, Zhou SF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25624750", "url": "https://glygen.org/publication/PubMed/25624750" } ] }, { "title": "Beclin 1 regulates growth factor receptor signaling in breast cancer.", "journal": "Oncogene", "date": "2015", "authors": "Rohatgi RA, Janusis J, Leonard D, Bellve KD, Fogarty KE, Baehrecke EH, Corvera S, Shaw LM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25639875", "url": "https://glygen.org/publication/PubMed/25639875" } ] }, { "title": "Inactivation of the phosphatidylinositol 3-kinase/Akt pathway is involved in BMP9-mediated tumor-suppressive effects in gastric cancer cells.", "journal": "Journal of cellular biochemistry", "date": "2015", "authors": "Duan L, Ye L, Wu R, Wang H, Li X, Li H, Yuan S, Zha H, Sun H, Zhang Y, Chen X, Zhang Y, Zhou L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25640278", "url": "https://glygen.org/publication/PubMed/25640278" } ] }, { "title": "CYP3A5 Functions as a Tumor Suppressor in Hepatocellular Carcinoma by Regulating mTORC2/Akt Signaling.", "journal": "Cancer research", "date": "2015", "authors": "Jiang F, Chen L, Yang YC, Wang XM, Wang RY, Li L, Wen W, Chang YX, Chen CY, Tang J, Liu GM, Huang WT, Xu L, Wang HY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25649767", "url": "https://glygen.org/publication/PubMed/25649767" } ] }, { "title": "mTOR inhibition induces EGFR feedback activation in association with its resistance to human pancreatic cancer.", "journal": "International journal of molecular sciences", "date": "2015", "authors": "Wei F, Zhang Y, Geng L, Zhang P, Wang G, Liu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25654224", "url": "https://glygen.org/publication/PubMed/25654224" } ] }, { "title": "PACAP interacts with PAC1 receptors to induce tissue plasminogen activator (tPA) expression and activity in schwann cell-like cultures.", "journal": "PloS one", "date": "2015", "authors": "Castorina A, Waschek JA, Marzagalli R, Cardile V, Drago F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25658447", "url": "https://glygen.org/publication/PubMed/25658447" } ] }, { "title": "FOXP1 regulation via the PI3K/Akt/p70S6K signaling pathway in breast cancer cells.", "journal": "Oncology letters", "date": "2015", "authors": "Halacli SO, Dogan AL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25663935", "url": "https://glygen.org/publication/PubMed/25663935" } ] }, { "title": "Dual PI3K/mTOR Inhibitors Induce Rapid Overactivation of the MEK/ERK Pathway in Human Pancreatic Cancer Cells through Suppression of mTORC2.", "journal": "Molecular cancer therapeutics", "date": "2015", "authors": "Soares HP, Ming M, Mellon M, Young SH, Han L, Sinnet-Smith J, Rozengurt E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25673820", "url": "https://glygen.org/publication/PubMed/25673820" } ] }, { "title": "Inhibition of the AKT pathway in cholangiocarcinoma by MK2206 reduces cellular viability via induction of apoptosis.", "journal": "Cancer cell international", "date": "2015", "authors": "Wilson JM, Kunnimalaiyaan S, Kunnimalaiyaan M, Gamblin TC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25674039", "url": "https://glygen.org/publication/PubMed/25674039" } ] }, { "title": "p22phox confers resistance to cisplatin, by blocking its entry into the nucleus.", "journal": "Oncotarget", "date": "2015", "authors": "Hung CC, Chien CY, Chiang WF, Lin CS, Hour TC, Chen HR, Wang LF, Ko JY, Chang CH, Chen JY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25686830", "url": "https://glygen.org/publication/PubMed/25686830" } ] }, { "title": "Escitalopram Ameliorates Forskolin-Induced Tau Hyperphosphorylation in HEK239/tau441 Cells.", "journal": "Journal of molecular neuroscience : MN", "date": "2015", "authors": "Ren QG, Wang YJ, Gong WG, Zhou QD, Xu L, Zhang ZJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25687330", "url": "https://glygen.org/publication/PubMed/25687330" } ] }, { "title": "A Novel, Potent, Small Molecule AKT Inhibitor Exhibits Efficacy against Lung Cancer Cells In Vitro.", "journal": "Cancer research and treatment", "date": "2015", "authors": "Dinavahi SS, Prasanna R, Dharmarajan S, Perumal Y, Viswanadha S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25687876", "url": "https://glygen.org/publication/PubMed/25687876" } ] }, { "title": "Gold nano-particles (AuNPs) carrying anti-EBV-miR-BART7-3p inhibit growth of EBV-positive nasopharyngeal carcinoma.", "journal": "Oncotarget", "date": "2015", "authors": "Cai L, Li J, Zhang X, Lu Y, Wang J, Lyu X, Chen Y, Liu J, Cai H, Wang Y, Li X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25691053", "url": "https://glygen.org/publication/PubMed/25691053" } ] }, { "title": "Impaired exercise training-induced muscle fiber hypertrophy and Akt/mTOR pathway activation in hypoxemic patients with COPD.", "journal": "Journal of applied physiology (Bethesda, Md. : 1985)", "date": "2015", "authors": "Costes F, Gosker H, Feasson L, Desgeorges M, Kelders M, Castells J, Schols A, Freyssenet D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25701004", "url": "https://glygen.org/publication/PubMed/25701004" } ] }, { "title": "SRC drives growth of antiestrogen resistant breast cancer cell lines and is a marker for reduced benefit of tamoxifen treatment.", "journal": "PloS one", "date": "2015", "authors": "Larsen Sarah L, Laenkholm Anne-Vibeke, Duun-Henriksen Anne Katrine, Bak Martin, Lykkesfeldt Anne E, Kirkegaard Tove", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25706943", "url": "https://glygen.org/publication/PubMed/25706943" } ] }, { "title": "Impact of Enhanced Production of Endogenous Heme Oxygenase-1 by Pitavastatin on Survival and Functional Activities of Bone Marrow-derived Mesenchymal Stem Cells.", "journal": "Journal of cardiovascular pharmacology", "date": "2015-06", "authors": "Kawashiri Masa-Aki, Nakanishi Chiaki, Tsubokawa Toshinari, Shimojima Masaya, Yoshida Shohei, Yoshimuta Tsuyoshi, Konno Tetsuo, Yamagishi Masakazu, Hayashi Kenshi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25714596", "url": "https://glygen.org/publication/PubMed/25714596" } ] }, { "title": "The CD20 homologue MS4A4 directs trafficking of KIT toward clathrin-independent endocytosis pathways and thus regulates receptor signaling and recycling.", "journal": "Molecular biology of the cell", "date": "2015", "authors": "Cruse G, Beaven MA, Music SC, Bradding P, Gilfillan AM, Metcalfe DD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25717186", "url": "https://glygen.org/publication/PubMed/25717186" } ] }, { "title": "PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.", "journal": "Brain : a journal of neurology", "date": "2015", "authors": "Jansen LA, Mirzaa GM, Ishak GE, O'Roak BJ, Hiatt JB, Roden WH, Gunter SA, Christian SL, Collins S, Adams C, Riviere JB, St-Onge J, Ojemann JG, Shendure J, Hevner RF, Dobyns WB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25722288", "url": "https://glygen.org/publication/PubMed/25722288" } ] }, { "title": "Rapamycin inhibits mSin1 phosphorylation independently of mTORC1 and mTORC2.", "journal": "Oncotarget", "date": "2015", "authors": "Luo Y, Liu L, Wu Y, Singh K, Su B, Zhang N, Liu X, Shen Y, Huang S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25738366", "url": "https://glygen.org/publication/PubMed/25738366" } ] }, { "title": "The role of CCL21/CCR7 chemokine axis in breast cancer-induced lymphangiogenesis.", "journal": "Molecular cancer", "date": "2015", "authors": "Tutunea-Fatan E, Majumder M, Xin X, Lala PK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25744065", "url": "https://glygen.org/publication/PubMed/25744065" } ] }, { "title": "DC120, a novel AKT inhibitor, preferentially suppresses nasopharyngeal carcinoma cancer stem-like cells by downregulating Sox2.", "journal": "Oncotarget", "date": "2015", "authors": "Qin J, Ji J, Deng R, Tang J, Yang F, Feng GK, Chen WD, Wu XQ, Qian XJ, Ding K, Zhu XF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25749514", "url": "https://glygen.org/publication/PubMed/25749514" } ] }, { "title": "Inhibition of PI3K/AKT/mTOR axis disrupts oxidative stress-mediated survival of melanoma cells.", "journal": "Oncotarget", "date": "2015", "authors": "Hambright HG, Meng P, Kumar AP, Ghosh R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25749517", "url": "https://glygen.org/publication/PubMed/25749517" } ] }, { "title": "The mechanism of synergistic effects of arsenic trioxide and rapamycin in acute myeloid leukemia cell lines lacking typical t(15;17) translocation.", "journal": "International journal of hematology", "date": "2015-07", "authors": "Dembitz Vilma, Lalic Hrvoje, Ostojic Alen, Vrhovac Radovan, Banfic Hrvoje, Visnjic Dora", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25758096", "url": "https://glygen.org/publication/PubMed/25758096" } ] }, { "title": "Arg972 insulin receptor substrate-1 enhances tumor necrosis factor-\u03b1-induced apoptosis in osteoblasts.", "journal": "Molecular medicine reports", "date": "2015-07", "authors": "You Yunhui, Liu Shiqing, Peng Lijuan, Long Mei, Deng Hongxiang, Zhao Hongjun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25760103", "url": "https://glygen.org/publication/PubMed/25760103" } ] }, { "title": "Tetraspanin 8-rictor-integrin \u03b13 complex is required for glioma cell migration.", "journal": "International journal of molecular sciences", "date": "2015-03-09", "authors": "Pan Si-Jian, Zhan Shi-Kun, Pan Yi-Xin, Liu Wei, Bian Liu-Guan, Sun Bomin, Sun Qing-Fang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25761241", "url": "https://glygen.org/publication/PubMed/25761241" } ] }, { "title": "Both mTORC1 and mTORC2 are involved in the regulation of cell adhesion.", "journal": "Oncotarget", "date": "2015", "authors": "Chen L, Xu B, Liu L, Liu C, Luo Y, Chen X, Barzegar M, Chung J, Huang S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25762619", "url": "https://glygen.org/publication/PubMed/25762619" } ] }, { "title": "A benzimidazole derivative exhibiting antitumor activity blocks EGFR and HER2 activity and upregulates DR5 in breast cancer cells.", "journal": "Cell death & disease", "date": "2015", "authors": "Chu B, Liu F, Li L, Ding C, Chen K, Sun Q, Shen Z, Tan Y, Tan C, Jiang Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25766325", "url": "https://glygen.org/publication/PubMed/25766325" } ] }, { "title": "YSY01A, a Novel Proteasome Inhibitor, Induces Cell Cycle Arrest on G2 Phase in MCF-7 Cells via ERalpha and PI3K/Akt Pathways.", "journal": "Journal of Cancer", "date": "2015", "authors": "Xue B, Huang W, Yuan X, Xu B, Lou Y, Zhou Q, Ran F, Ge Z, Li R, Cui J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25767601", "url": "https://glygen.org/publication/PubMed/25767601" } ] }, { "title": "Clinically significant association between the maximum standardized uptake value on 18F-FDG PET and expression of phosphorylated Akt and S6 kinase for prediction of the biological characteristics of renal cell cancer.", "journal": "BMC cancer", "date": "2015", "authors": "Mizuno T, Kamai T, Abe H, Sakamoto S, Kitajima K, Nishihara D, Yuki H, Kambara T, Betsunoh H, Yashi M, Fukabori Y, Kaji Y, Yoshida K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25784113", "url": "https://glygen.org/publication/PubMed/25784113" } ] }, { "title": "Pro-apoptotic and pro-autophagic effects of the Aurora kinase A inhibitor alisertib (MLN8237) on human osteosarcoma U-2 OS and MG-63 cells through the activation of mitochondria-mediated pathway and inhibition of p38 MAPK/PI3K/Akt/mTOR signaling pathway.", "journal": "Drug design, development and therapy", "date": "2015", "authors": "Niu NK, Wang ZL, Pan ST, Ding HQ, Au GH, He ZX, Zhou ZW, Xiao G, Yang YX, Zhang X, Yang T, Chen XW, Qiu JX, Zhou SF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25792811", "url": "https://glygen.org/publication/PubMed/25792811" } ] }, { "title": "IL22/IL-22R pathway induces cell survival in human glioblastoma cells.", "journal": "PloS one", "date": "2015", "authors": "Akil H, Abbaci A, Lalloue F, Bessette B, Costes LM, Domballe L, Charreau S, Guilloteau K, Karayan-Tapon L, Bernard FX, Morel F, Jauberteau MO, Lecron JC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25793261", "url": "https://glygen.org/publication/PubMed/25793261" } ] }, { "title": "Hepatocyte nuclear factor 1A (HNF1A) as a possible tumor suppressor in pancreatic cancer.", "journal": "PloS one", "date": "2015", "authors": "Luo Z, Li Y, Wang H, Fleming J, Li M, Kang Y, Zhang R, Li D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25793983", "url": "https://glygen.org/publication/PubMed/25793983" } ] }, { "title": "Phosphatidylinositol-3,4,5-trisphosphate stimulates Ca(2+) elevation and Akt phosphorylation to constitute a major mechanism of thromboxane A2 formation in human platelets.", "journal": "Cellular signalling", "date": "2015", "authors": "Kassouf N, Ambily A, Watson S, Hassock S, Authi HS, Srivastava S, Watson SP, Authi KS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25797048", "url": "https://glygen.org/publication/PubMed/25797048" } ] }, { "title": "PTX3 gene activation in EGF-induced head and neck cancer cell metastasis.", "journal": "Oncotarget", "date": "2015", "authors": "Chang WC, Wu SL, Huang WC, Hsu JY, Chan SH, Wang JM, Tsai JP, Chen BK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25797258", "url": "https://glygen.org/publication/PubMed/25797258" } ] }, { "title": "The role of CD29-ILK-Akt signaling-mediated epithelial-mesenchymal transition of liver epithelial cells and chemoresistance and radioresistance in hepatocellular carcinoma cells.", "journal": "Medical oncology (Northwood, London, England)", "date": "2015-05", "authors": "Jiang Xiaorong, Wang Jingxia, Zhang Kaili, Tang Siyuan, Ren Caiping, Chen Yuxiang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25805567", "url": "https://glygen.org/publication/PubMed/25805567" } ] }, { "title": "Discovery of benzo[f]indole-4,9-dione derivatives as new types of anti-inflammatory agents.", "journal": "International journal of molecular sciences", "date": "2015", "authors": "Chen YR, Tseng CH, Chen YL, Hwang TL, Tzeng CC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25807261", "url": "https://glygen.org/publication/PubMed/25807261" } ] }, { "title": "Involvement of DNA-PKcs in the type I IFN response to CpG-ODNs in conventional dendritic cells in TLR9-dependent or -independent manners.", "journal": "PloS one", "date": "2015", "authors": "Ma C, Spies NP, Gong T, Jones CX, Chu WM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25812014", "url": "https://glygen.org/publication/PubMed/25812014" } ] }, { "title": "Alpha-fetoprotein activates AKT/mTOR signaling to promote CXCR4 expression and migration of hepatoma cells.", "journal": "Oncoscience", "date": "2015", "authors": "Zhu M, Guo J, Xia H, Li W, Lu Y, Dong X, Chen Y, Xie X, Fu S, Li M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25815363", "url": "https://glygen.org/publication/PubMed/25815363" } ] }, { "title": "miR-93 promotes cell proliferation in gliomas through activation of PI3K/Akt signaling pathway.", "journal": "Oncotarget", "date": "2015", "authors": "Jiang L, Wang C, Lei F, Zhang L, Zhang X, Liu A, Wu G, Zhu J, Song L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25823655", "url": "https://glygen.org/publication/PubMed/25823655" } ] }, { "title": "A Combination of Screening and Computational Approaches for the Identification of Novel Compounds That Decrease Mast Cell Degranulation.", "journal": "Journal of biomolecular screening", "date": "2015", "authors": "McShane MP, Friedrichson T, Giner A, Meyenhofer F, Barsacchi R, Bickle M, Zerial M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25838434", "url": "https://glygen.org/publication/PubMed/25838434" } ] }, { "title": "Transforming growth factor beta-interacting factor-induced malignant progression of hepatocellular carcinoma cells depends on superoxide production from Nox4.", "journal": "Free radical biology & medicine", "date": "2015", "authors": "Liu ZM, Tseng HY, Tsai HW, Su FC, Huang HS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25841779", "url": "https://glygen.org/publication/PubMed/25841779" } ] }, { "title": "Distinct inhibitory effects on mTOR signaling by ethanol and INK128 in diffuse large B-cell lymphoma.", "journal": "Cell communication and signaling : CCS", "date": "2015", "authors": "Mazan-Mamczarz K, Peroutka RJ, Steinhardt JJ, Gidoni M, Zhang Y, Lehrmann E, Landon AL, Dai B, Houng S, Muniandy PA, Efroni S, Becker KG, Gartenhaus RB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25849580", "url": "https://glygen.org/publication/PubMed/25849580" } ] }, { "title": "Cyclin-dependent kinase 5 acts as a critical determinant of AKT-dependent proliferation and regulates differential gene expression by the androgen receptor in prostate cancer cells.", "journal": "Molecular biology of the cell", "date": "2015", "authors": "Lindqvist J, Imanishi SY, Torvaldson E, Malinen M, Remes M, Orn F, Palvimo JJ, Eriksson JE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25851605", "url": "https://glygen.org/publication/PubMed/25851605" } ] }, { "title": "FoxM1 promotes breast tumorigenesis by activating PDGF-A and forming a positive feedback loop with the PDGF/AKT signaling pathway.", "journal": "Oncotarget", "date": "2015", "authors": "Yu G, Zhou A, Xue J, Huang C, Zhang X, Kang SH, Chiu WT, Tan C, Xie K, Wang J, Huang S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25869208", "url": "https://glygen.org/publication/PubMed/25869208" } ] }, { "title": "Bariatric surgery in morbidly obese insulin resistant humans normalises insulin signalling but not insulin-stimulated glucose disposal.", "journal": "PloS one", "date": "2015", "authors": "Chen MZ, Hudson CA, Vincent EE, de Berker DA, May MT, Hers I, Dayan CM, Andrews RC, Tavare JM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25876175", "url": "https://glygen.org/publication/PubMed/25876175" } ] }, { "title": "miR-15b/16 protects primary human retinal microvascular endothelial cells against hyperglycemia-induced increases in tumor necrosis factor alpha and suppressor of cytokine signaling 3.", "journal": "Journal of neuroinflammation", "date": "2015", "authors": "Ye EA, Steinle JJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25888955", "url": "https://glygen.org/publication/PubMed/25888955" } ] }, { "title": "Intelectin 1 suppresses the growth, invasion and metastasis of neuroblastoma cells through up-regulation of N-myc downstream regulated gene 2.", "journal": "Molecular cancer", "date": "2015-02-21", "authors": "Li Dan, Mei Hong, Pu Jiarui, Xiang Xuan, Zhao Xiang, Qu Hongxia, Huang Kai, Zheng Liduan, Tong Qiangsong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25889839", "url": "https://glygen.org/publication/PubMed/25889839" } ] }, { "title": "Microenvironment involved in FPR1 expression by human glioblastomas.", "journal": "Journal of neuro-oncology", "date": "2015", "authors": "Boer JC, van Marion DM, Joseph JV, Kliphuis NM, Timmer-Bosscha H, van Strijp JA, de Vries EG, den Dunnen WF, Kruyt FA, Walenkamp AM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25894595", "url": "https://glygen.org/publication/PubMed/25894595" } ] }, { "title": "Combined inhibition of AKT/mTOR and MDM2 enhances Glioblastoma Multiforme cell apoptosis and differentiation of cancer stem cells.", "journal": "Scientific reports", "date": "2015", "authors": "Daniele S, Costa B, Zappelli E, Da Pozzo E, Sestito S, Nesi G, Campiglia P, Marinelli L, Novellino E, Rapposelli S, Martini C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25898313", "url": "https://glygen.org/publication/PubMed/25898313" } ] }, { "title": "Acute molecular responses to concurrent resistance and high-intensity interval exercise in untrained skeletal muscle.", "journal": "Physiological reports", "date": "2015", "authors": "Pugh JK, Faulkner SH, Jackson AP, King JA, Nimmo MA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25902785", "url": "https://glygen.org/publication/PubMed/25902785" } ] }, { "title": "Novel cancer chemotherapy hits by molecular topology: dual Akt and Beta-catenin inhibitors.", "journal": "PloS one", "date": "2015", "authors": "Zanni R, Galvez-Llompart M, Morell C, Rodriguez-Henche N, Diaz-Laviada I, Recio-Iglesias MC, Garcia-Domenech R, Galvez J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25910265", "url": "https://glygen.org/publication/PubMed/25910265" } ] }, { "title": "Threonine 34 phosphorylation by phosphoinositide-dependent protein kinase 1 facilitates dissociation of Akt from the plasma membrane.", "journal": "The international journal of biochemistry & cell biology", "date": "2015", "authors": "Huang BX, Lee R, Akbar M, Kim HY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25912234", "url": "https://glygen.org/publication/PubMed/25912234" } ] }, { "title": "NHE9 induces chemoradiotherapy resistance in esophageal squamous cell carcinoma by upregulating the Src/Akt/beta-catenin pathway and Bcl-2 expression.", "journal": "Oncotarget", "date": "2015", "authors": "Chen J, Yang H, Wen J, Luo K, Liu Q, Huang Y, Zheng Y, Tan Z, Huang Q, Fu J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25915159", "url": "https://glygen.org/publication/PubMed/25915159" } ] }, { "title": "Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.", "journal": "PloS one", "date": "2015", "authors": "Loconte DC, Grossi V, Bozzao C, Forte G, Bagnulo R, Stella A, Lastella P, Cutrone M, Benedicenti F, Susca FC, Patruno M, Varvara D, Germani A, Chessa L, Laforgia N, Tenconi R, Simone C, Resta N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25915946", "url": "https://glygen.org/publication/PubMed/25915946" } ] }, { "title": "Ghrelin promotes renal cell carcinoma metastasis via Snail activation and is associated with poor prognosis.", "journal": "The Journal of pathology", "date": "2015-09", "authors": "Lin Tsung-Chieh, Liu Yu-Peng, Chan Yung-Chieh, Su Chia-Yi, Lin Yuan-Feng, Hsu Shih-Lan, Yang Chung-Shi, Hsiao Michael", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25925728", "url": "https://glygen.org/publication/PubMed/25925728" } ] }, { "title": "Schisandrin B inhibits cell growth and induces cellular apoptosis and autophagy in mouse hepatocytes and macrophages: implications for its hepatotoxicity.", "journal": "Drug design, development and therapy", "date": "2015", "authors": "Zhang Y, Zhou ZW, Jin H, Hu C, He ZX, Yu ZL, Ko KM, Yang T, Zhang X, Pan SY, Zhou SF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25926716", "url": "https://glygen.org/publication/PubMed/25926716" } ] }, { "title": "Capsaicin Enhances the Drug Sensitivity of Cholangiocarcinoma through the Inhibition of Chemotherapeutic-Induced Autophagy.", "journal": "PloS one", "date": "2015", "authors": "Hong ZF, Zhao WX, Yin ZY, Xie CR, Xu YP, Chi XQ, Zhang S, Wang XM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25933112", "url": "https://glygen.org/publication/PubMed/25933112" } ] }, { "title": "Amyloid beta peptide-induced inhibition of endothelial nitric oxide production involves oxidative stress-mediated constitutive eNOS/HSP90 interaction and disruption of agonist-mediated Akt activation.", "journal": "Journal of neuroinflammation", "date": "2015", "authors": "Lamoke F, Mazzone V, Persichini T, Maraschi A, Harris MB, Venema RC, Colasanti M, Gliozzi M, Muscoli C, Bartoli M, Mollace V", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25935150", "url": "https://glygen.org/publication/PubMed/25935150" } ] }, { "title": "Using Pharmacokinetic Profiles and Digital Quantification of Stained Tissue Microarrays as a Medium-Throughput, Quantitative Method for Measuring the Kinetics of Early Signaling Changes Following Integrin-Linked Kinase Inhibition in an In Vivo Model of Cancer.", "journal": "The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society", "date": "2015", "authors": "Kalra J, Dragowska WH, Bally MB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25940338", "url": "https://glygen.org/publication/PubMed/25940338" } ] }, { "title": "HBx induced AFP receptor expressed to activate PI3K/AKT signal to promote expression of Src in liver cells and hepatoma cells.", "journal": "BMC cancer", "date": "2015", "authors": "Zhu M, Guo J, Li W, Xia H, Lu Y, Dong X, Chen Y, Xie X, Fu S, Li M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25943101", "url": "https://glygen.org/publication/PubMed/25943101" } ] }, { "title": "AKT inhibition overcomes rapamycin resistance by enhancing the repressive function of PRAS40 on mTORC1/4E-BP1 axis.", "journal": "Oncotarget", "date": "2015", "authors": "Mi W, Ye Q, Liu S, She QB", "evidence": [ { "database": "Reactome", "id": "R-HSA-165159", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-165159" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25961827", "url": "https://glygen.org/publication/PubMed/25961827" } ] }, { "title": "An ShRNA Based Genetic Screen Identified Sesn2 as a Potential Tumor Suppressor in Lung Cancer via Suppression of Akt-mTOR-p70S6K Signaling.", "journal": "PloS one", "date": "2015", "authors": "Xu H, Sun H, Zhang H, Liu J, Fan F, Li Y, Ning X, Sun Y, Dai S, Liu B, Gao M, Fu S, Zhou C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25962159", "url": "https://glygen.org/publication/PubMed/25962159" } ] }, { "title": "Hepatic insulin signalling is dispensable for suppression of glucose output by insulin in vivo.", "journal": "Nature communications", "date": "2015", "authors": "Titchenell PM, Chu Q, Monks BR, Birnbaum MJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25963408", "url": "https://glygen.org/publication/PubMed/25963408" } ] }, { "title": "Optimization of Invasion-Specific Effects of Betulin Derivatives on Prostate Cancer Cells through Lead Development.", "journal": "PloS one", "date": "2015", "authors": "Harma V, Haavikko R, Virtanen J, Ahonen I, Schukov HP, Alakurtti S, Purev E, Rischer H, Yli-Kauhaluoma J, Moreira VM, Nees M, Oksman-Caldentey KM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25965345", "url": "https://glygen.org/publication/PubMed/25965345" } ] }, { "title": "Intelectin 1 suppresses tumor progression and is associated with improved survival in gastric cancer.", "journal": "Oncotarget", "date": "2015", "authors": "Li D, Zhao X, Xiao Y, Mei H, Pu J, Xiang X, Jiao W, Song H, Qu H, Huang K, Zheng L, Tong Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25965823", "url": "https://glygen.org/publication/PubMed/25965823" } ] }, { "title": "Ca2+/calmodulin-dependent protein kinase II\u03b3 enhances stem-like traits and tumorigenicity of lung cancer cells.", "journal": "Oncotarget", "date": "2015-06-30", "authors": "Chai Shoujie, Xu Xia, Wang Yongfang, Zhou You, Zhang Chenchen, Yang Yiming, Yang Ying, Xu Haiyan, Xu Rongzhen, Wang Kai", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25965829", "url": "https://glygen.org/publication/PubMed/25965829" } ] }, { "title": "C-Reactive Protein Induces Tau Hyperphosphorylation via GSK3beta Signaling Pathway in SH-SY5Y Cells.", "journal": "Journal of molecular neuroscience : MN", "date": "2015", "authors": "Guo H, Wang H, Wang C, Cheng Y, Zou Z, Li Y, Wu J, Xu J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25966642", "url": "https://glygen.org/publication/PubMed/25966642" } ] }, { "title": "MiR-124 suppresses cell motility and adhesion by targeting talin 1 in prostate cancer cells.", "journal": "Cancer cell international", "date": "2015", "authors": "Zhang W, Mao YQ, Wang H, Yin WJ, Zhu SX, Wang WC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25969668", "url": "https://glygen.org/publication/PubMed/25969668" } ] }, { "title": "PTPRG suppresses tumor growth and invasion via inhibition of Akt signaling in nasopharyngeal carcinoma.", "journal": "Oncotarget", "date": "2015-05-30", "authors": "Cheung Arthur Kwok Leung, Ip Joseph Chok Yan, Chu Adrian Chi Hang, Cheng Yue, Leong Merrin Man Long, Ko Josephine Mun Yee, Shuen Wai Ho, Lung Hong Lok, Lung Maria Li", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25970784", "url": "https://glygen.org/publication/PubMed/25970784" } ] }, { "title": "Marine lipopeptide Iturin A inhibits Akt mediated GSK3beta and FoxO3a signaling and triggers apoptosis in breast cancer.", "journal": "Scientific reports", "date": "2015", "authors": "Dey G, Bharti R, Dhanarajan G, Das S, Dey KK, Kumar BN, Sen R, Mandal M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25974307", "url": "https://glygen.org/publication/PubMed/25974307" } ] }, { "title": "Silencing of Receptor Tyrosine Kinase ROR1 Inhibits Tumor-Cell Proliferation via PI3K/AKT/mTOR Signaling Pathway in Lung Adenocarcinoma.", "journal": "PloS one", "date": "2015", "authors": "Liu Y, Yang H, Chen T, Luo Y, Xu Z, Li Y, Yang J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25978653", "url": "https://glygen.org/publication/PubMed/25978653" } ] }, { "title": "Nuclear EGFR impairs ASPP2-p53 complex-induced apoptosis by inducing SOS1 expression in hepatocellular carcinoma.", "journal": "Oncotarget", "date": "2015", "authors": "Liu K, Jiang T, Ouyang Y, Shi Y, Zang Y, Li N, Lu S, Chen D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25980493", "url": "https://glygen.org/publication/PubMed/25980493" } ] }, { "title": "Anti-chondroitin sulfate proteoglycan 4-specific antibodies modify the effects of vemurafenib on melanoma cells differentially in normoxia and hypoxia.", "journal": "International journal of oncology", "date": "2015", "authors": "Pucciarelli D, Lengger N, Takacova M, Csaderova L, Bartosova M, Breiteneder H, Pastorekova S, Hafner C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25997619", "url": "https://glygen.org/publication/PubMed/25997619" } ] }, { "title": "Akt/PKB: one kinase, many modifications.", "journal": "The Biochemical journal", "date": "2015", "authors": "Risso G, Blaustein M, Pozzi B, Mammi P, Srebrow A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25997832", "url": "https://glygen.org/publication/PubMed/25997832" } ] }, { "title": "RPPA-based protein profiling reveals eIF4G overexpression and 4E-BP1 serine 65 phosphorylation as molecular events that correspond with a pro-survival phenotype in chronic lymphocytic leukemia.", "journal": "Oncotarget", "date": "2015", "authors": "Shull AY, Noonepalle SK, Awan FT, Liu J, Pei L, Bollag RJ, Salman H, Ding Z, Shi H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25999352", "url": "https://glygen.org/publication/PubMed/25999352" } ] }, { "title": "The collective nuclear migration of p53 and phosphorylated S473 of Akt during ellipticine-mediated apoptosis in human lung epithelial cancer cells.", "journal": "Molecular and cellular biochemistry", "date": "2015", "authors": "Wang JP, Yu YC, Chen SP, Liang HC, Lin CW, Fang K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26014912", "url": "https://glygen.org/publication/PubMed/26014912" } ] }, { "title": "Notch1 Mutation Leads to Valvular Calcification Through Enhanced Myofibroblast Mechanotransduction.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2015", "authors": "Chen J, Ryzhova LM, Sewell-Loftin MK, Brown CB, Huppert SS, Baldwin HS, Merryman WD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26023079", "url": "https://glygen.org/publication/PubMed/26023079" } ] }, { "title": "Cellular context-mediated Akt dynamics regulates MAP kinase signaling thresholds during angiogenesis.", "journal": "Molecular biology of the cell", "date": "2015", "authors": "Hellesoy M, Lorens JB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26023089", "url": "https://glygen.org/publication/PubMed/26023089" } ] }, { "title": "The critical role of Akt in cardiovascular function.", "journal": "Vascular pharmacology", "date": "2015", "authors": "Abeyrathna P, Su Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26025205", "url": "https://glygen.org/publication/PubMed/26025205" } ] }, { "title": "BCL-3 expression promotes colorectal tumorigenesis through activation of AKT signalling.", "journal": "Gut", "date": "2016-07", "authors": "Urban Bettina C, Collard Tracey J, Eagle Catherine J, Southern Samantha L, Greenhough Alexander, Hamdollah-Zadeh Maryam, Ghosh Anil, Poulsom Richard, Paraskeva Christos, Silver Andrew, Williams Ann C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26033966", "url": "https://glygen.org/publication/PubMed/26033966" } ] }, { "title": "Cell Surface CD74-MIF Interactions Drive Melanoma Survival in Response to Interferon-gamma.", "journal": "The Journal of investigative dermatology", "date": "2015", "authors": "Tanese K, Hashimoto Y, Berkova Z, Wang Y, Samaniego F, Lee JE, Ekmekcioglu S, Grimm EA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26039541", "url": "https://glygen.org/publication/PubMed/26039541" } ] }, { "title": "Matrix metalloproteases as maestros for the dual role of LPS- and IL-10-stimulated macrophages in cancer cell behaviour.", "journal": "BMC cancer", "date": "2015", "authors": "Cardoso AP, Pinto ML, Pinto AT, Pinto MT, Monteiro C, Oliveira MI, Santos SG, Relvas JB, Seruca R, Mantovani A, Mareel M, Barbosa MA, Oliveira MJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26043921", "url": "https://glygen.org/publication/PubMed/26043921" } ] }, { "title": "Rapamycin inhibits Erk1/2-mediated neuronal apoptosis caused by cadmium.", "journal": "Oncotarget", "date": "2015", "authors": "Xu C, Zhang H, Liu C, Zhu Y, Wang X, Gao W, Huang S, Chen L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26046303", "url": "https://glygen.org/publication/PubMed/26046303" } ] }, { "title": "Mutant AKT1-E17K is oncogenic in lung epithelial cells.", "journal": "Oncotarget", "date": "2015", "authors": "De Marco C, Malanga D, Rinaldo N, De Vita F, Scrima M, Lovisa S, Fabris L, Carriero MV, Franco R, Rizzuto A, Baldassarre G, Viglietto G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26053093", "url": "https://glygen.org/publication/PubMed/26053093" } ] }, { "title": "Protective Effects of Clenbuterol against Dexamethasone-Induced Masseter Muscle Atrophy and Myosin Heavy Chain Transition.", "journal": "PloS one", "date": "2015", "authors": "Umeki D, Ohnuki Y, Mototani Y, Shiozawa K, Suita K, Fujita T, Nakamura Y, Saeki Y, Okumura S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26053620", "url": "https://glygen.org/publication/PubMed/26053620" } ] }, { "title": "Propofol Treatment Inhibits Constitutive Apoptosis in Human Primary Neutrophils and Granulocyte-Differentiated Human HL60 Cells.", "journal": "PloS one", "date": "2015", "authors": "Hsing CH, Chen CL, Lin WC, Lin CF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26061531", "url": "https://glygen.org/publication/PubMed/26061531" } ] }, { "title": "Mitogen-Inducible Gene-6 Mediates Feedback Inhibition from Mutated BRAF towards the Epidermal Growth Factor Receptor and Thereby Limits Malignant Transformation.", "journal": "PloS one", "date": "2015", "authors": "Milewska Malgorzata, Romano David, Herrero Ana, Guerriero Maria Luisa, Birtwistle Marc, Quehenberger Franz, Hatzl Stefan, Kholodenko Boris N, Segatto Oreste, Kolch Walter, Zebisch Armin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26065894", "url": "https://glygen.org/publication/PubMed/26065894" } ] }, { "title": "1\u03b1, 25-Dihydroxyvitamin D\u2083 and the vitamin D receptor regulates \u0394Np63\u03b1 levels and keratinocyte proliferation.", "journal": "Cell death & disease", "date": "2015-06-11", "authors": "Hill N T, Zhang J, Leonard M K, Lee M, Shamma H N, Kadakia M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26068789", "url": "https://glygen.org/publication/PubMed/26068789" } ] }, { "title": "p70S6K is regulated by focal adhesion kinase and is required for Src-selective autophagy.", "journal": "Cellular signalling", "date": "2015", "authors": "Sandilands E, Schoenherr C, Frame MC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26071201", "url": "https://glygen.org/publication/PubMed/26071201" } ] }, { "title": "Par6G suppresses cell proliferation and is targeted by loss-of-function mutations in multiple cancers.", "journal": "Oncogene", "date": "2016", "authors": "Marques E, Englund JI, Tervonen TA, Virkunen E, Laakso M, Myllynen M, Makela A, Ahvenainen M, Lepikhova T, Monni O, Hautaniemi S, Klefstrom J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26073086", "url": "https://glygen.org/publication/PubMed/26073086" } ] }, { "title": "Lhx8 regulates primordial follicle activation and postnatal folliculogenesis.", "journal": "BMC biology", "date": "2015-06-16", "authors": "Ren Yu, Suzuki Hitomi, Jagarlamudi Krishna, Golnoski Kayla, McGuire Megan, Lopes Rita, Pachnis Vassilis, Rajkovic Aleksandar", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26076587", "url": "https://glygen.org/publication/PubMed/26076587" } ] }, { "title": "Platycodin-D Induced Autophagy in Non-Small Cell Lung Cancer Cells via PI3K/Akt/mTOR and MAPK Signaling Pathways.", "journal": "Journal of Cancer", "date": "2015", "authors": "Zhao R, Chen M, Jiang Z, Zhao F, Xi B, Zhang X, Fu H, Zhou K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26078792", "url": "https://glygen.org/publication/PubMed/26078792" } ] }, { "title": "FBI-1 Is Overexpressed in Gestational Trophoblastic Disease and Promotes Tumor Growth and Cell Aggressiveness of Choriocarcinoma via PI3K/Akt Signaling.", "journal": "The American journal of pathology", "date": "2015", "authors": "Mak VC, Wong OG, Siu MK, Wong ES, Ng WY, Wong RW, Chan KK, Ngan HY, Cheung AN", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26093985", "url": "https://glygen.org/publication/PubMed/26093985" } ] }, { "title": "Digital microfluidic immunocytochemistry in single cells.", "journal": "Nature communications", "date": "2015", "authors": "Ng AHC, Chamberlain MD, Situ H, Lee V, Wheeler AR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26104298", "url": "https://glygen.org/publication/PubMed/26104298" } ] }, { "title": "Rapamycin impairs endothelial cell function in human internal thoracic arteries.", "journal": "European journal of medical research", "date": "2015", "authors": "Reineke DC, Muller-Schweinitzer E, Winkler B, Kunz D, Konerding MA, Grussenmeyer T, Carrel TP, Eckstein FS, Grapow MT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26104664", "url": "https://glygen.org/publication/PubMed/26104664" } ] }, { "title": "Corticotropin-Releasing Hormone (CRH) Promotes Macrophage Foam Cell Formation via Reduced Expression of ATP Binding Cassette Transporter-1 (ABCA1).", "journal": "PloS one", "date": "2015", "authors": "Cho W, Kang JL, Park YM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26110874", "url": "https://glygen.org/publication/PubMed/26110874" } ] }, { "title": "Basal Autophagy and Feedback Activation of Akt Are Associated with Resistance to Metformin-Induced Inhibition of Hepatic Tumor Cell Growth.", "journal": "PloS one", "date": "2015", "authors": "Yang H, Peng YF, Ni HM, Li Y, Shi YH, Ding WX, Fan J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26111001", "url": "https://glygen.org/publication/PubMed/26111001" } ] }, { "title": "Zidovudine, an anti-viral drug, resensitizes gemcitabine-resistant pancreatic cancer cells to gemcitabine by inhibition of the Akt-GSK3beta-Snail pathway.", "journal": "Cell death & disease", "date": "2015", "authors": "Namba T, Kodama R, Moritomo S, Hoshino T, Mizushima T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26111057", "url": "https://glygen.org/publication/PubMed/26111057" } ] }, { "title": "Hibiscus sabdariffa Leaf Extract Inhibits Human Prostate Cancer Cell Invasion via Down-Regulation of Akt/NF-kB/MMP-9 Pathway.", "journal": "Nutrients", "date": "2015", "authors": "Chiu CT, Chen JH, Chou FP, Lin HH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26115086", "url": "https://glygen.org/publication/PubMed/26115086" } ] }, { "title": "A Potential Role for the Inhibition of PI3K Signaling in Glioblastoma Therapy.", "journal": "PloS one", "date": "2015", "authors": "Strobele S, Schneider M, Schneele L, Siegelin MD, Nonnenmacher L, Zhou S, Karpel-Massler G, Westhoff MA, Halatsch ME, Debatin KM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26121251", "url": "https://glygen.org/publication/PubMed/26121251" } ] }, { "title": "Novel Imidazopyridine Derivatives Possess Anti-Tumor Effect on Human Castration-Resistant Prostate Cancer Cells.", "journal": "PloS one", "date": "2015", "authors": "Ingersoll MA, Lyons AS, Muniyan S, D'Cunha N, Robinson T, Hoelting K, Dwyer JG, Bu XR, Batra SK, Lin MF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26121643", "url": "https://glygen.org/publication/PubMed/26121643" } ] }, { "title": "Co-treatment with BEZ235 Enhances Sensitivity of BRCA1-negative Breast Cancer Cells to Olaparib.", "journal": "Anticancer research", "date": "2015", "authors": "Yi YW, Park JS, Kwak SJ, Seong YS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26124328", "url": "https://glygen.org/publication/PubMed/26124328" } ] }, { "title": "Epi-reevesioside F inhibits Na+/K+-ATPase, causing cytosolic acidification, Bak activation and apoptosis in glioblastoma.", "journal": "Oncotarget", "date": "2015", "authors": "Hsu JL, Liu FL, Hsu LC, Chang HS, Leu WJ, Yu CC, Chang WL, Chen IS, Kung FL, Guh JH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26125228", "url": "https://glygen.org/publication/PubMed/26125228" } ] }, { "title": "Daple is a novel non-receptor GEF required for trimeric G protein activation in Wnt signaling.", "journal": "eLife", "date": "2015", "authors": "Aznar N, Midde KK, Dunkel Y, Lopez-Sanchez I, Pavlova Y, Marivin A, Barbazan J, Murray F, Nitsche U, Janssen KP, Willert K, Goel A, Abal M, Garcia-Marcos M, Ghosh P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26126266", "url": "https://glygen.org/publication/PubMed/26126266" } ] }, { "title": "The dual PI3K/mTOR inhibitor NVP-BEZ235 inhibits proliferation and induces apoptosis of burkitt lymphoma cells.", "journal": "Cancer cell international", "date": "2015", "authors": "Li C, Xin P, Xiao H, Zheng Y, Huang Y, Zhu X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26130968", "url": "https://glygen.org/publication/PubMed/26130968" } ] }, { "title": "Significance of filamin A in mTORC2 function in glioblastoma.", "journal": "Molecular cancer", "date": "2015", "authors": "Chantaravisoot N, Wongkongkathep P, Loo JA, Mischel PS, Tamanoi F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26134617", "url": "https://glygen.org/publication/PubMed/26134617" } ] }, { "title": "Inhibitors of pan-PI3K Signaling Synergize with BRAF or MEK Inhibitors to Prevent BRAF-Mutant Melanoma Cell Growth.", "journal": "Frontiers in oncology", "date": "2015", "authors": "Sweetlove Melanie, Wrightson Emma, Kolekar Sharada, Rewcastle Gordon W, Baguley Bruce C, Shepherd Peter R, Jamieson Stephen M F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26137449", "url": "https://glygen.org/publication/PubMed/26137449" } ] }, { "title": "A Hot-spot of In-frame Duplications Activates the Oncoprotein AKT1 in Juvenile Granulosa Cell Tumors.", "journal": "EBioMedicine", "date": "2015", "authors": "Bessiere L, Todeschini AL, Auguste A, Sarnacki S, Flatters D, Legois B, Sultan C, Kalfa N, Galmiche L, Veitia RA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26137586", "url": "https://glygen.org/publication/PubMed/26137586" } ] }, { "title": "CDK5 Regulates Paclitaxel Sensitivity in Ovarian Cancer Cells by Modulating AKT Activation, p21Cip1- and p27Kip1-Mediated G1 Cell Cycle Arrest and Apoptosis.", "journal": "PloS one", "date": "2015", "authors": "Zhang Shu, Lu Zhen, Mao Weiqun, Ahmed Ahmed A, Yang Hailing, Zhou Jinhua, Jennings Nicholas, Rodriguez-Aguayo Cristian, Lopez-Berestein Gabriel, Miranda Roberto, Qiao Wei, Baladandayuthapani Veera, Li Zongfang, Sood Anil K, Liu Jinsong, Le Xiao-Feng, Bast Robert C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26146988", "url": "https://glygen.org/publication/PubMed/26146988" } ] }, { "title": "8bromo7methoxychrysin induces apoptosis by regulating Akt/FOXO3a pathway in cisplatinsensitive and resistant ovarian cancer cells.", "journal": "Molecular medicine reports", "date": "2015", "authors": "Ding Q, Chen Y, Zhang Q, Guo Y, Huang Z, Dai L, Cao S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26151347", "url": "https://glygen.org/publication/PubMed/26151347" } ] }, { "title": "Dual inhibition of CDK4/Rb and PI3K/AKT/mTOR pathways by ON123300 induces synthetic lethality in mantle cell lymphomas.", "journal": "Leukemia", "date": "2016", "authors": "Divakar SK, Ramana Reddy MV, Cosenza SC, Baker SJ, Perumal D, Antonelli AC, Brody J, Akula B, Parekh S, Reddy EP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26174628", "url": "https://glygen.org/publication/PubMed/26174628" } ] }, { "title": "The virus-induced protein APOBEC3G inhibits anoikis by activation of Akt kinase in pancreatic cancer cells.", "journal": "Scientific reports", "date": "2015-07-16", "authors": "Wu Jia, Pan Tian-Hui, Xu Song, Jia Li-Tao, Zhu Lin-Lin, Mao Jian-Shan, Zhu Yong-Liang, Cai Jian-Ting", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26178819", "url": "https://glygen.org/publication/PubMed/26178819" } ] }, { "title": "Marine Bromophenol Derivative 3,4-Dibromo-5-(2-bromo-3,4-dihydroxy-6-isopropoxymethyl benzyl)benzene-1,2-diol Protects Hepatocytes from Lipid-Induced Cell Damage and Insulin Resistance via PTP1B Inhibition.", "journal": "Marine drugs", "date": "2015", "authors": "Luo J, Wu N, Jiang B, Wang L, Wang S, Li X, Wang B, Wang C, Shi D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26193288", "url": "https://glygen.org/publication/PubMed/26193288" } ] }, { "title": "Phosphatidylinositol 3-Kinase Couples Localised Calcium Influx to Activation of Akt in Central Nerve Terminals.", "journal": "Neurochemical research", "date": "2016", "authors": "Nicholson-Fish JC, Cousin MA, Smillie KJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26198194", "url": "https://glygen.org/publication/PubMed/26198194" } ] }, { "title": "The role of the metastasis suppressor gene KAI1 in melanoma angiogenesis.", "journal": "Pigment cell & melanoma research", "date": "2015", "authors": "Tang Y, Bhandaru M, Cheng Y, Lu J, Li G, Ong CJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26199094", "url": "https://glygen.org/publication/PubMed/26199094" } ] }, { "title": "VS-5584, a Novel PI3K-mTOR Dual Inhibitor, Inhibits Melanoma Cell Growth In Vitro and In Vivo.", "journal": "PloS one", "date": "2015", "authors": "Shao Zheren, Bao Qi, Jiang Fangzhen, Qian Huan, Fang Quan, Hu Xueqing", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26204252", "url": "https://glygen.org/publication/PubMed/26204252" } ] }, { "title": "Combination of antibodies directed against different ErbB3 surface epitopes prevents the establishment of resistance to BRAF/MEK inhibitors in melanoma.", "journal": "Oncotarget", "date": "2015", "authors": "Fattore L, Malpicci D, Marra E, Belleudi F, Noto A, De Vitis C, Pisanu ME, Coluccia P, Camerlingo R, Roscilli G, Ribas A, Di Napoli A, Torrisi MR, Aurisicchio L, Ascierto PA, Mancini R, Ciliberto G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26208478", "url": "https://glygen.org/publication/PubMed/26208478" } ] }, { "title": "Laminar shear flow increases hydrogen sulfide and activates a nitric oxide producing signaling cascade in endothelial cells.", "journal": "Biochemical and biophysical research communications", "date": "2015-09-04", "authors": "Huang Bin, Chen Chang-Ting, Chen Chi-Shia, Wang Yun-Ming, Hsieh Hsyue-Jen, Wang Danny Ling", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26212441", "url": "https://glygen.org/publication/PubMed/26212441" } ] }, { "title": "Ligand-Binding Affinity at the Insulin Receptor Isoform-A and Subsequent IR-A Tyrosine Phosphorylation Kinetics are Important Determinants of Mitogenic Biological Outcomes.", "journal": "Frontiers in endocrinology", "date": "2015", "authors": "Rajapaksha Harinda, Forbes Briony E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26217307", "url": "https://glygen.org/publication/PubMed/26217307" } ] }, { "title": "Activation of the phosphatidylinositol 3-kinase pathway plays important roles in reduction of cerebral infarction by cilnidipine.", "journal": "Journal of neurochemistry", "date": "2015", "authors": "Son JW, Choi H, Yoo A, Park HH, Kim YS, Lee KY, Lee YJ, Koh SH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26222278", "url": "https://glygen.org/publication/PubMed/26222278" } ] }, { "title": "A Positive Feedback Loop between Akt and mTORC2 via SIN1 Phosphorylation.", "journal": "Cell reports", "date": "2015", "authors": "Yang G, Murashige DS, Humphrey SJ, James DE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26235620", "url": "https://glygen.org/publication/PubMed/26235620" } ] }, { "title": "Plk1 regulates MEK1/2 and proliferation in airway smooth muscle cells.", "journal": "Respiratory research", "date": "2015", "authors": "Jiang S, Tang DD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26242183", "url": "https://glygen.org/publication/PubMed/26242183" } ] }, { "title": "Aschantin targeting on the kinase domain of mammalian target of rapamycin suppresses epidermal growth factor-induced neoplastic cell transformation.", "journal": "Carcinogenesis", "date": "2015", "authors": "Lee CJ, Jang JH, Lee JY, Lee MH, Li Y, Ryu HW, Choi KI, Dong Z, Lee HS, Oh SR, Surh YJ, Cho YY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26243309", "url": "https://glygen.org/publication/PubMed/26243309" } ] }, { "title": "Avian Reovirus Protein p17 Functions as a Nucleoporin Tpr Suppressor Leading to Activation of p53, p21 and PTEN and Inactivation of PI3K/AKT/mTOR and ERK Signaling Pathways.", "journal": "PloS one", "date": "2015", "authors": "Huang WR, Chiu HC, Liao TL, Chuang KP, Shih WL, Liu HJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26244501", "url": "https://glygen.org/publication/PubMed/26244501" } ] }, { "title": "Agonistic aptamer to the insulin receptor leads to biased signaling and functional selectivity through allosteric modulation.", "journal": "Nucleic acids research", "date": "2015", "authors": "Yunn NO, Koh A, Han S, Lim JH, Park S, Lee J, Kim E, Jang SK, Berggren PO, Ryu SH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26245346", "url": "https://glygen.org/publication/PubMed/26245346" } ] }, { "title": "Gecko proteins induce the apoptosis of bladder cancer 5637 cells by inhibiting Akt and activating the intrinsic caspase cascade.", "journal": "BMB reports", "date": "2015", "authors": "Kim GY, Park SY, Jo A, Kim M, Leem SH, Jun WJ, Shim SI, Lee SC, Chung JW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26246284", "url": "https://glygen.org/publication/PubMed/26246284" } ] }, { "title": "Epidermal growth factor-stimulated Akt phosphorylation requires clathrin or ErbB2 but not receptor endocytosis.", "journal": "Molecular biology of the cell", "date": "2015", "authors": "Garay C, Judge G, Lucarelli S, Bautista S, Pandey R, Singh T, Antonescu CN", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26246598", "url": "https://glygen.org/publication/PubMed/26246598" } ] }, { "title": "MicroRNA-587 antagonizes 5-FU-induced apoptosis and confers drug resistance by regulating PPP2R1B expression in colorectal cancer.", "journal": "Cell death & disease", "date": "2015", "authors": "Zhang Y, Talmon G, Wang J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26247730", "url": "https://glygen.org/publication/PubMed/26247730" } ] }, { "title": "SPARC Controls Melanoma Cell Plasticity through Rac1.", "journal": "PloS one", "date": "2015", "authors": "Salvatierra E, Alvarez MJ, Leishman CC, Rivas Baquero E, Lutzky VP, Chuluyan HE, Podhajcer OL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26248315", "url": "https://glygen.org/publication/PubMed/26248315" } ] }, { "title": "Embelin-Induced Apoptosis of Human Prostate Cancer Cells Is Mediated through Modulation of Akt and beta-Catenin Signaling.", "journal": "PloS one", "date": "2015", "authors": "Park N, Baek HS, Chun YJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26252009", "url": "https://glygen.org/publication/PubMed/26252009" } ] }, { "title": "Differential crosstalk between the AMPK and PI3K/Akt pathways in breast cancer cells of differing genotypes: Leptin inhibits the effectiveness of AMPK activation.", "journal": "Oncology reports", "date": "2015", "authors": "El-Masry OS, Al-Sakkaf K, Brown BL, Dobson PR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26260992", "url": "https://glygen.org/publication/PubMed/26260992" } ] }, { "title": "Parasporin-2 from a New Bacillus thuringiensis 4R2 Strain Induces Caspases Activation and Apoptosis in Human Cancer Cells.", "journal": "PloS one", "date": "2015", "authors": "Brasseur Kevin, Auger Pascal, Asselin Eric, Parent Sophie, C\u00f4t\u00e9 Jean-Charles, Sirois Marc", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26263002", "url": "https://glygen.org/publication/PubMed/26263002" } ] }, { "title": "Loss of NDRG2 enhanced activation of the NF-kappaB pathway by PTEN and NIK phosphorylation for ATL and other cancer development.", "journal": "Scientific reports", "date": "2015", "authors": "Ichikawa T, Nakahata S, Fujii M, Iha H, Morishita K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26269411", "url": "https://glygen.org/publication/PubMed/26269411" } ] }, { "title": "Association of Factor V Secretion with Protein Kinase B Signaling in Platelets from Horses with Atypical Equine Thrombasthenia.", "journal": "Journal of veterinary internal medicine", "date": "2015", "authors": "Norris JW, Pombo M, Shirley E, Blevins G, Tablin F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26290457", "url": "https://glygen.org/publication/PubMed/26290457" } ] }, { "title": "Over-Expressed Twist Associates with Markers of Epithelial Mesenchymal Transition and Predicts Poor Prognosis in Breast Cancers via ERK and Akt Activation.", "journal": "PloS one", "date": "2015", "authors": "Zhang Yong-Qu, Wei Xiao-Long, Liang Yuan-Ke, Chen Wei-Ling, Zhang Fan, Bai Jing-Wen, Qiu Si-Qi, Du Cai-Wen, Huang Wen-He, Zhang Guo-Jun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26295469", "url": "https://glygen.org/publication/PubMed/26295469" } ] }, { "title": "Endothelial Cell mTOR Complex-2 Regulates Sprouting Angiogenesis.", "journal": "PloS one", "date": "2015", "authors": "Farhan Maikel A, Carmine-Simmen Katia, Lewis John D, Moore Ronald B, Murray Allan G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26295809", "url": "https://glygen.org/publication/PubMed/26295809" } ] }, { "title": "Insulin and IGF1 signalling pathways in human astrocytes in vitro and in vivo; characterisation, subcellular localisation and modulation of the receptors.", "journal": "Molecular brain", "date": "2015", "authors": "Garwood CJ, Ratcliffe LE, Morgan SV, Simpson JE, Owens H, Vazquez-Villasenor I, Heath PR, Romero IA, Ince PG, Wharton SB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26297026", "url": "https://glygen.org/publication/PubMed/26297026" } ] }, { "title": "Short-term high glucose exposure impairs insulin signaling in endothelial cells.", "journal": "Cardiovascular diabetology", "date": "2015-08-22", "authors": "De Nigris Valeria, Pujadas Gemma, La Sala Lucia, Testa Roberto, Genovese Stefano, Ceriello Antonio", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26297582", "url": "https://glygen.org/publication/PubMed/26297582" } ] }, { "title": "Dentin phosphophoryn in the matrix activates AKT and mTOR signaling pathway to promote preodontoblast survival and differentiation.", "journal": "Frontiers in physiology", "date": "2015", "authors": "Eapen Asha, George Anne", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26300786", "url": "https://glygen.org/publication/PubMed/26300786" } ] }, { "title": "Role of phosphatase activity of soluble epoxide hydrolase in regulating simvastatin-activated endothelial nitric oxide synthase.", "journal": "Scientific reports", "date": "2015", "authors": "Hou HH, Liao YJ, Hsiao SH, Shyue SK, Lee TS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26304753", "url": "https://glygen.org/publication/PubMed/26304753" } ] }, { "title": "PEBP4 promoted the growth and migration of cancer cells in pancreatic ductal adenocarcinoma.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2016-02", "authors": "Zhang Dexiang, Dai Yuedi, Cai Yuankun, Suo Tao, Liu Han, Wang Yueqi, Cheng Zhijian, Liu Houbao", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26311050", "url": "https://glygen.org/publication/PubMed/26311050" } ] }, { "title": "alpha-Solanine induces ROS-mediated autophagy through activation of endoplasmic reticulum stress and inhibition of Akt/mTOR pathway.", "journal": "Cell death & disease", "date": "2015", "authors": "Hasanain M, Bhattacharjee A, Pandey P, Ashraf R, Singh N, Sharma S, Vishwakarma AL, Datta D, Mitra K, Sarkar J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26313911", "url": "https://glygen.org/publication/PubMed/26313911" } ] }, { "title": "Ribavirin Inhibits the Activity of mTOR/eIF4E, ERK/Mnk1/eIF4E Signaling Pathway and Synergizes with Tyrosine Kinase Inhibitor Imatinib to Impair Bcr-Abl Mediated Proliferation and Apoptosis in Ph+ Leukemia.", "journal": "PloS one", "date": "2015", "authors": "Shi F, Len Y, Gong Y, Shi R, Yang X, Naren D, Yan T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26317515", "url": "https://glygen.org/publication/PubMed/26317515" } ] }, { "title": "Involvement of PI3K/AKT and MAPK Pathways for TNF-alpha Production in SiHa Cervical Mucosal Epithelial Cells Infected with Trichomonas vaginalis.", "journal": "The Korean journal of parasitology", "date": "2015", "authors": "Yang JB, Quan JH, Kim YE, Rhee YE, Kang BH, Choi IW, Cha GH, Yuk JM, Lee YH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26323834", "url": "https://glygen.org/publication/PubMed/26323834" } ] }, { "title": "RY-2f, an isoflavone analog, overcomes cisplatin resistance to inhibit ovarian tumorigenesis via targeting the PI3K/AKT/mTOR signaling pathway.", "journal": "Oncotarget", "date": "2015-09-22", "authors": "Liu Mingming, Qi Zihao, Liu Bingzhi, Ren Yi, Li Hanbin, Yang Gong, Zhang Qian", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26325371", "url": "https://glygen.org/publication/PubMed/26325371" } ] }, { "title": "Physical Intimacy of Breast Cancer Cells with Mesenchymal Stem Cells Elicits Trastuzumab Resistance through Src Activation.", "journal": "Scientific reports", "date": "2015", "authors": "Daverey A, Drain AP, Kidambi S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26345302", "url": "https://glygen.org/publication/PubMed/26345302" } ] }, { "title": "Role of SIRT1-mediated mitochondrial and Akt pathways in glioblastoma cell death induced by Cotinus coggygria flavonoid nanoliposomes.", "journal": "International journal of nanomedicine", "date": "2015", "authors": "Wang G, Wang JJ, To TS, Zhao HF, Wang J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26345416", "url": "https://glygen.org/publication/PubMed/26345416" } ] }, { "title": "TSC2 mediates hyperosmotic stress-induced inactivation of mTORC1.", "journal": "Scientific reports", "date": "2015", "authors": "Plescher M, Teleman AA, Demetriades C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26345496", "url": "https://glygen.org/publication/PubMed/26345496" } ] }, { "title": "Molecular Basis for the Regulation of Transcriptional Coactivator p300 in Myogenic Differentiation.", "journal": "Scientific reports", "date": "2015", "authors": "Chen J, Wang Y, Hamed M, Lacroix N, Li Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26354606", "url": "https://glygen.org/publication/PubMed/26354606" } ] }, { "title": "RICTOR involvement in the PI3K/AKT pathway regulation in melanocytes and melanoma.", "journal": "Oncotarget", "date": "2015", "authors": "Laugier F, Finet-Benyair A, Andre J, Rachakonda PS, Kumar R, Bensussan A, Dumaz N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26356562", "url": "https://glygen.org/publication/PubMed/26356562" } ] }, { "title": "Low-Concentration Arsenic Trioxide Inhibits Skeletal Myoblast Cell Proliferation via a Reactive Oxygen Species-Independent Pathway.", "journal": "PloS one", "date": "2015", "authors": "Liu SH, Yang RS, Yen YP, Chiu CY, Tsai KS, Lan KC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26359868", "url": "https://glygen.org/publication/PubMed/26359868" } ] }, { "title": "Erratum to: The collective nuclear migration of p53 and phosphorylated S473 of Akt during ellipticine-mediated apoptosis in human lung epithelial cancer cells.", "journal": "Molecular and cellular biochemistry", "date": "2015", "authors": "Wang JP, Yu YC, Chen SP, Liang HC, Lin CW, Fang K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26377961", "url": "https://glygen.org/publication/PubMed/26377961" } ] }, { "title": "sMEK1 inhibits endothelial cell proliferation by attenuating VEGFR-2-dependent-Akt/eNOS/HIF-1alpha signaling pathways.", "journal": "Oncotarget", "date": "2015", "authors": "Kim BR, Seo SH, Park MS, Lee SH, Kwon Y, Rho SB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26378810", "url": "https://glygen.org/publication/PubMed/26378810" } ] }, { "title": "SGK-1 protects kidney cells against apoptosis induced by ceramide and TNF-alpha.", "journal": "Cell death & disease", "date": "2015", "authors": "Pastore D, Della-Morte D, Coppola A, Capuani B, Lombardo MF, Pacifici F, Ferrelli F, Arriga R, Mammi C, Federici M, Bellia A, Di Daniele N, Tesauro M, Donadel G, Noto D, Sbraccia P, Sconocchia G, Lauro D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26379195", "url": "https://glygen.org/publication/PubMed/26379195" } ] }, { "title": "Blocking the PI3K/AKT pathway enhances mammalian reovirus replication by repressing IFN-stimulated genes.", "journal": "Frontiers in microbiology", "date": "2015", "authors": "Tian J, Zhang X, Wu H, Liu C, Li Z, Hu X, Su S, Wang LF, Qu L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26388843", "url": "https://glygen.org/publication/PubMed/26388843" } ] }, { "title": "Evaluation of In Vitro Activity of the Class I PI3K Inhibitor Buparlisib (BKM120) in Pediatric Bone and Soft Tissue Sarcomas.", "journal": "PloS one", "date": "2015", "authors": "Anderson JL, Park A, Akiyama R, Tap WD, Denny CT, Federman N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26402468", "url": "https://glygen.org/publication/PubMed/26402468" } ] }, { "title": "The Role of PTP1B O-GlcNAcylation in Hepatic Insulin Resistance.", "journal": "International journal of molecular sciences", "date": "2015", "authors": "Zhao Y, Tang Z, Shen A, Tao T, Wan C, Zhu X, Huang J, Zhang W, Xia N, Wang S, Cui S, Zhang D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26402673", "url": "https://glygen.org/publication/PubMed/26402673" } ] }, { "title": "Fangchinoline suppresses the growth and invasion of human glioblastoma cells by inhibiting the kinase activity of Akt and Akt-mediated signaling cascades.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2016", "authors": "Guo B, Xie P, Su J, Zhang T, Li X, Liang G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26408176", "url": "https://glygen.org/publication/PubMed/26408176" } ] }, { "title": "AIF inhibits tumor metastasis by protecting PTEN from oxidation.", "journal": "EMBO reports", "date": "2015", "authors": "Shen SM, Guo M, Xiong Z, Yu Y, Zhao XY, Zhang FF, Chen GQ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26415504", "url": "https://glygen.org/publication/PubMed/26415504" } ] }, { "title": "TTK activates Akt and promotes proliferation and migration of hepatocellular carcinoma cells.", "journal": "Oncotarget", "date": "2015", "authors": "Liu X, Liao W, Yuan Q, Ou Y, Huang J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26418879", "url": "https://glygen.org/publication/PubMed/26418879" } ] }, { "title": "Andrographolide Analogue Induces Apoptosis and Autophagy Mediated Cell Death in U937 Cells by Inhibition of PI3K/Akt/mTOR Pathway.", "journal": "PloS one", "date": "2015", "authors": "Kumar D, Das B, Sen R, Kundu P, Manna A, Sarkar A, Chowdhury C, Chatterjee M, Das P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26436418", "url": "https://glygen.org/publication/PubMed/26436418" } ] }, { "title": "Control of peripheral tolerance by regulatory T cell-intrinsic Notch signaling.", "journal": "Nature immunology", "date": "2015-11", "authors": "Charbonnier Louis-Marie, Wang Sen, Georgiev Peter, Sefik Esen, Chatila Talal A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26437242", "url": "https://glygen.org/publication/PubMed/26437242" } ] }, { "title": "GIMAP5 Deficiency Is Associated with Increased AKT Activity in T Lymphocytes.", "journal": "PloS one", "date": "2015", "authors": "Chen XL, Serrano D, Mayhue M, Hoebe K, Ilangumaran S, Ramanathan S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26440416", "url": "https://glygen.org/publication/PubMed/26440416" } ] }, { "title": "XB130/Tks5 scaffold protein interaction regulates Src-mediated cell proliferation and survival.", "journal": "Molecular biology of the cell", "date": "2015", "authors": "Moodley S, Hui Bai X, Kapus A, Yang B, Liu M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26446840", "url": "https://glygen.org/publication/PubMed/26446840" } ] }, { "title": "Hes1 triggers epithelial-mesenchymal transition (EMT)-like cellular marker alterations and promotes invasion and metastasis of nasopharyngeal carcinoma by activating the PTEN/AKT pathway.", "journal": "Oncotarget", "date": "2015-11-03", "authors": "Wang Sheng-Chun, Lin Xiao-Lin, Wang Hui-Yan, Qin Yu-Juan, Chen Lin, Li Jing, Jia Jun-Shuang, Shen Hong-Fen, Yang Sheng, Xie Rao-Ying, Wei Fang, Gao Fei, Rong Xiao-Xiang, Yang Jie, Zhao Wen-Tao, Zhang Ting-Ting, Shi Jun-Wen, Yao Kai-Tai, Luo Wei-Ren, Sun Yan, Xiao Dong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26452025", "url": "https://glygen.org/publication/PubMed/26452025" } ] }, { "title": "Akt Links Insulin Signaling to Albumin Endocytosis in Proximal Tubule Epithelial Cells.", "journal": "PloS one", "date": "2015", "authors": "Coffey S, Costacou T, Orchard T, Erkan E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26465605", "url": "https://glygen.org/publication/PubMed/26465605" } ] }, { "title": "Palmitic acid but not palmitoleic acid induces insulin resistance in a human endothelial cell line by decreasing SERCA pump expression.", "journal": "Cellular signalling", "date": "2016-01", "authors": "Gustavo Vazquez-Jimenez J, Chavez-Reyes Jesus, Romero-Garcia Tatiana, Zarain-Herzberg Angel, Valdes-Flores Jesus, Manuel Galindo-Rosales J, Rueda Angelica, Guerrero-Hernandez Agustin, Olivares-Reyes J Alberto", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26475209", "url": "https://glygen.org/publication/PubMed/26475209" } ] }, { "title": "Early effect of Roux-en-Y gastric bypass on insulin sensitivity and signaling.", "journal": "Surgery for obesity and related diseases : official journal of the American Society for Bariatric Surgery", "date": "2016", "authors": "Severino A, Castagneto-Gissey L, Raffaelli M, Gastaldelli A, Capristo E, Iaconelli A, Guidone C, Callari C, Bellantone R, Mingrone G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26483070", "url": "https://glygen.org/publication/PubMed/26483070" } ] }, { "title": "Akt inhibition improves irinotecan treatment and prevents cell emergence by switching the senescence response to apoptosis.", "journal": "Oncotarget", "date": "2015", "authors": "Vetillard A, Jonchere B, Moreau M, Toutain B, Henry C, Fontanel S, Bernard AC, Campone M, Guette C, Coqueret O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26485768", "url": "https://glygen.org/publication/PubMed/26485768" } ] }, { "title": "Lysine-specific demethylase 1 mediates epidermal growth factor signaling to promote cell migration in ovarian cancer cells.", "journal": "Scientific reports", "date": "2015-10-22", "authors": "Shao Genbao, Wang Jie, Li Yuanxia, Liu Xiuwen, Xie Xiaodong, Wan Xiaolei, Yan Meina, Jin Jie, Lin Qiong, Zhu Haitao, Zhang Liuping, Gong Aihua, Shao Qixiang, Wu Chaoyang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26489763", "url": "https://glygen.org/publication/PubMed/26489763" } ] }, { "title": "Multifactorial resistance to aminopeptidase inhibitor prodrug CHR2863 in myeloid leukemia cells: down-regulation of carboxylesterase 1, drug sequestration in lipid droplets and pro-survival activation ERK/Akt/mTOR.", "journal": "Oncotarget", "date": "2016", "authors": "Verbrugge SE, Al M, Assaraf YG, Kammerer S, Chandrupatla DM, Honeywell R, Musters RP, Giovannetti E, O'Toole T, Scheffer GL, Krige D, de Gruijl TD, Niessen HW, Lems WF, Kramer PA, Scheper RJ, Cloos J, Ossenkoppele GJ, Peters GJ, Jansen G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26496029", "url": "https://glygen.org/publication/PubMed/26496029" } ] }, { "title": "Downregulation of Choline Kinase-Alpha Enhances Autophagy in Tamoxifen-Resistant Breast Cancer Cells.", "journal": "PloS one", "date": "2015", "authors": "Kim HS, Tian L, Jung M, Choi SK, Sun Y, Kim H, Moon WK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26496360", "url": "https://glygen.org/publication/PubMed/26496360" } ] }, { "title": "Rapamycin-resistant and torin-sensitive mTOR signaling promotes the survival and proliferation of leukemic cells.", "journal": "BMB reports", "date": "2016", "authors": "Park S, Sim H, Lee K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26497580", "url": "https://glygen.org/publication/PubMed/26497580" } ] }, { "title": "A putative biomarker signature for clinically effective AKT inhibition: correlation of in vitro, in vivo and clinical data identifies the importance of modulation of the mTORC1 pathway.", "journal": "Oncotarget", "date": "2015", "authors": "Cheraghchi-Bashi A, Parker CA, Curry E, Salazar JF, Gungor H, Saleem A, Cunnea P, Rama N, Salinas C, Mills GB, Morris SR, Kumar R, Gabra H, Stronach EA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26497682", "url": "https://glygen.org/publication/PubMed/26497682" } ] }, { "title": "Control of Pim2 kinase stability and expression in transformed human haematopoietic cells.", "journal": "Bioscience reports", "date": "2015", "authors": "Adam K, Lambert M, Lestang E, Champenois G, Dusanter-Fourt I, Tamburini J, Bouscary D, Lacombe C, Zermati Y, Mayeux P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26500282", "url": "https://glygen.org/publication/PubMed/26500282" } ] }, { "title": "Amphiregulin enhances intercellular adhesion molecule-1 expression and promotes tumor metastasis in human osteosarcoma.", "journal": "Oncotarget", "date": "2015-12-01", "authors": "Liu Ju-Fang, Tsao Ya-Ting, Hou Chun-Han", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26503469", "url": "https://glygen.org/publication/PubMed/26503469" } ] }, { "title": "Reciprocal feedback inhibition of the androgen receptor and PI3K as a novel therapy for castrate-sensitive and -resistant prostate cancer.", "journal": "Oncotarget", "date": "2015", "authors": "Qi W, Morales C, Cooke LS, Johnson B, Somer B, Mahadevan D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26506516", "url": "https://glygen.org/publication/PubMed/26506516" } ] }, { "title": "The Akt-mTOR axis is a pivotal regulator of eccentric hypertrophy during volume overload.", "journal": "Scientific reports", "date": "2015", "authors": "Ikeda M, Ide T, Fujino T, Matsuo Y, Arai S, Saku K, Kakino T, Oga Y, Nishizaki A, Sunagawa K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26515499", "url": "https://glygen.org/publication/PubMed/26515499" } ] }, { "title": "LGR5 regulates pro-survival MEK/ERK and proliferative Wnt/\u03b2-catenin signalling in neuroblastoma.", "journal": "Oncotarget", "date": "2015-11-24", "authors": "Vieira Gabriella Cunha, Chockalingam S, Melegh Zsombor, Greenhough Alexander, Malik Sally, Szemes Marianna, Park Ji Hyun, Kaidi Abderrahmane, Zhou Li, Catchpoole Daniel, Morgan Rhys, Bates David O, Gabb Peter David, Malik Karim", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26517508", "url": "https://glygen.org/publication/PubMed/26517508" } ] }, { "title": "Intracellular Networks of the PI3K/AKT and MAPK Pathways for Regulating Toxoplasma gondii-Induced IL-23 and IL-12 Production in Human THP-1 Cells.", "journal": "PloS one", "date": "2015", "authors": "Quan JH, Chu JQ, Kwon J, Choi IW, Ismail HA, Zhou W, Cha GH, Zhou Y, Yuk JM, Jo EK, Lee YH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26528819", "url": "https://glygen.org/publication/PubMed/26528819" } ] }, { "title": "Vertical Targeting of AKT and mTOR as Well as Dual Targeting of AKT and MEK Signaling Is Synergistic in Hepatocellular Carcinoma.", "journal": "Journal of Cancer", "date": "2015", "authors": "Ewald F, Norz D, Grottke A, Bach J, Herzberger C, Hofmann BT, Nashan B, Jucker M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26535060", "url": "https://glygen.org/publication/PubMed/26535060" } ] }, { "title": "Comprehensive profiling of novel microRNA-9 targets and a tumor suppressor role of microRNA-9 via targeting IGF2BP1 in hepatocellular carcinoma.", "journal": "Oncotarget", "date": "2015-12-08", "authors": "Zhang Jiangbo, Cheng Jin, Zeng Zhenzhen, Wang Yongfeng, Li Xiaojun, Xie Qing, Jia Junqiao, Yan Ying, Guo Zhengyang, Gao Jian, Yao Mingjie, Chen Xiangmei, Lu Fengmin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26547929", "url": "https://glygen.org/publication/PubMed/26547929" } ] }, { "title": "The cytotoxic T cell proteome and its shaping by the kinase mTOR.", "journal": "Nature immunology", "date": "2016-01", "authors": "Hukelmann Jens L, Anderson Karen E, Sinclair Linda V, Grzes Katarzyna M, Murillo Alejandro Brenes, Hawkins Phillip T, Stephens Len R, Lamond Angus I, Cantrell Doreen A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26551880", "url": "https://glygen.org/publication/PubMed/26551880" } ] }, { "title": "Inhibition of PI3K Signalling Selectively Affects Medulloblastoma Cancer Stem Cells.", "journal": "BioMed research international", "date": "2015", "authors": "Frasson C, Rampazzo E, Accordi B, Beggio G, Pistollato F, Basso G, Persano L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26557719", "url": "https://glygen.org/publication/PubMed/26557719" } ] }, { "title": "Fluid shear triggers microvilli formation via mechanosensitive activation of TRPV6.", "journal": "Nature communications", "date": "2015", "authors": "Miura S, Sato K, Kato-Negishi M, Teshima T, Takeuchi S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26563429", "url": "https://glygen.org/publication/PubMed/26563429" } ] }, { "title": "Simvastatin-induced breast cancer cell death and deactivation of PI3K/Akt and MAPK/ERK signalling are reversed by metabolic products of the mevalonate pathway.", "journal": "Oncotarget", "date": "2016", "authors": "Wang T, Seah S, Loh X, Chan CW, Hartman M, Goh BC, Lee SC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26565813", "url": "https://glygen.org/publication/PubMed/26565813" } ] }, { "title": "INPP4B is upregulated and functions as an oncogenic driver through SGK3 in a subset of melanomas.", "journal": "Oncotarget", "date": "2015", "authors": "Chi MN, Guo ST, Wilmott JS, Guo XY, Yan XG, Wang CY, Liu XY, Jin L, Tseng HY, Liu T, Croft A, Hondermarck H, Scolyer RA, Jiang CC, Zhang XD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26573229", "url": "https://glygen.org/publication/PubMed/26573229" } ] }, { "title": "Three Peptides from Soy Glycinin Modulate Glucose Metabolism in Human Hepatic HepG2 Cells.", "journal": "International journal of molecular sciences", "date": "2015", "authors": "Lammi C, Zanoni C, Arnoldi A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26580610", "url": "https://glygen.org/publication/PubMed/26580610" } ] }, { "title": "mTOR controls lysosome tubulation and antigen presentation in macrophages and dendritic cells.", "journal": "Molecular biology of the cell", "date": "2016", "authors": "Saric A, Hipolito VE, Kay JG, Canton J, Antonescu CN, Botelho RJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26582390", "url": "https://glygen.org/publication/PubMed/26582390" } ] }, { "title": "Mdm20 Modulates Actin Remodeling through the mTORC2 Pathway via Its Effect on Rictor Expression.", "journal": "PloS one", "date": "2015", "authors": "Yasuda K, Takahashi M, Mori N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26600389", "url": "https://glygen.org/publication/PubMed/26600389" } ] }, { "title": "Greatwall promotes cell transformation by hyperactivating AKT in human malignancies.", "journal": "eLife", "date": "2015", "authors": "Vera J, Lartigue L, Vigneron S, Gadea G, Gire V, Del Rio M, Soubeyran I, Chibon F, Lorca T, Castro A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26613407", "url": "https://glygen.org/publication/PubMed/26613407" } ] }, { "title": "Upregulation of Nicotinic Acetylcholine Receptor alph4+beta2 through a Ligand-Independent PI3Kbeta Mechanism That Is Enhanced by TNFalpha and the Jak2/p38Mapk Pathways.", "journal": "PloS one", "date": "2015", "authors": "Rogers Scott W, Gahring Lorise C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26619345", "url": "https://glygen.org/publication/PubMed/26619345" } ] }, { "title": "WWP2 is required for normal cell cycle progression.", "journal": "Genes & cancer", "date": "2015-09", "authors": "Choi Byeong Hyeok, Che Xun, Chen Changyan, Lu Luo, Dai Wei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26622940", "url": "https://glygen.org/publication/PubMed/26622940" } ] }, { "title": "O-GlcNAcylation enhances the invasion of thyroid anaplastic cancer cells partially by PI3K/Akt1 pathway.", "journal": "OncoTargets and therapy", "date": "2015", "authors": "Zhang P, Wang C, Ma T, You S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26635480", "url": "https://glygen.org/publication/PubMed/26635480" } ] }, { "title": "Insulin Signaling in Bupivacaine-induced Cardiac Toxicity: Sensitization during Recovery and Potentiation by Lipid Emulsion.", "journal": "Anesthesiology", "date": "2016", "authors": "Fettiplace MR, Kowal K, Ripper R, Young A, Lis K, Rubinstein I, Bonini M, Minshall R, Weinberg G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26646023", "url": "https://glygen.org/publication/PubMed/26646023" } ] }, { "title": "Auranofin-mediated inhibition of PI3K/AKT/mTOR axis and anticancer activity in non-small cell lung cancer cells.", "journal": "Oncotarget", "date": "2016", "authors": "Li H, Hu J, Wu S, Wang L, Cao X, Zhang X, Dai B, Cao M, Shao R, Zhang R, Majidi M, Ji L, Heymach JV, Wang M, Pan S, Minna J, Mehran RJ, Swisher SG, Roth JA, Fang B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26657290", "url": "https://glygen.org/publication/PubMed/26657290" } ] }, { "title": "Mitochondrial reactive oxygen species perturb AKT/cyclin D1 cell cycle signaling via oxidative inactivation of PP2A in lowdose irradiated human fibroblasts.", "journal": "Oncotarget", "date": "2016", "authors": "Shimura T, Sasatani M, Kamiya K, Kawai H, Inaba Y, Kunugita N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26657292", "url": "https://glygen.org/publication/PubMed/26657292" } ] }, { "title": "Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome.", "journal": "Scientific reports", "date": "2015", "authors": "Lindhurst MJ, Yourick MR, Yu Y, Savage RE, Ferrari D, Biesecker LG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26657992", "url": "https://glygen.org/publication/PubMed/26657992" } ] }, { "title": "Phosphorylation of GSK3alpha/beta correlates with activation of AKT and is prognostic for poor overall survival in acute myeloid leukemia patients.", "journal": "BBA clinical", "date": "2015", "authors": "Ruvolo PP, Qiu Y, Coombes KR, Zhang N, Neeley ES, Ruvolo VR, Hail N Jr, Borthakur G, Konopleva M, Andreeff M, Kornblau SM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26674329", "url": "https://glygen.org/publication/PubMed/26674329" } ] }, { "title": "Juglanthraquinone C Induces Intracellular ROS Increase and Apoptosis by Activating the Akt/Foxo Signal Pathway in HCC Cells.", "journal": "Oxidative medicine and cellular longevity", "date": "2016", "authors": "Hou YQ, Yao Y, Bao YL, Song ZB, Yang C, Gao XL, Zhang WJ, Sun LG, Yu CL, Huang YX, Wang GN, Li YX", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26682007", "url": "https://glygen.org/publication/PubMed/26682007" } ] }, { "title": "TBX2 represses PTEN in rhabdomyosarcoma and skeletal muscle.", "journal": "Oncogene", "date": "2016-08-11", "authors": "Zhu B, Zhang M, Williams E M, Keller C, Mansoor A, Davie J K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26686089", "url": "https://glygen.org/publication/PubMed/26686089" } ] }, { "title": "Akt activation correlates with the tumor aggressiveness in Tunisian patients with bladder cancer.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2016", "authors": "Ben Bahria-Sediki I, Sampaio C, Chebil M, Cherif M, Zermani R, Rammeh S, Ben Ammar El Gaaied A, Bettaieb A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26700664", "url": "https://glygen.org/publication/PubMed/26700664" } ] }, { "title": "MicroRNA-519a promotes tumor growth by targeting PTEN/PI3K/AKT signaling in hepatocellular carcinoma.", "journal": "International journal of oncology", "date": "2016", "authors": "Tu K, Liu Z, Yao B, Han S, Yang W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26708293", "url": "https://glygen.org/publication/PubMed/26708293" } ] }, { "title": "Suppressive Effects of Insulin on Tumor Necrosis Factor-Dependent Early Osteoarthritic Changes Associated With Obesity and Type 2 Diabetes Mellitus.", "journal": "Arthritis & rheumatology (Hoboken, N.J.)", "date": "2016", "authors": "Hamada D, Maynard R, Schott E, Drinkwater CJ, Ketz JP, Kates SL, Jonason JH, Hilton MJ, Zuscik MJ, Mooney RA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26713606", "url": "https://glygen.org/publication/PubMed/26713606" } ] }, { "title": "Identification of a novel mechanism of action of fingolimod (FTY720) on human effector T cell function through TCF-1 upregulation.", "journal": "Journal of neuroinflammation", "date": "2015", "authors": "Mazzola MA, Raheja R, Murugaiyan G, Rajabi H, Kumar D, Pertel T, Regev K, Griffin R, Aly L, Kivisakk P, Nejad P, Patel B, Gwanyalla N, Hei H, Glanz B, Chitnis T, Weiner HL, Gandhi R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26714756", "url": "https://glygen.org/publication/PubMed/26714756" } ] }, { "title": "Periostin in tumor microenvironment is associated with poor prognosis and platinum resistance in epithelial ovarian carcinoma.", "journal": "Oncotarget", "date": "2016", "authors": "Sung PL, Jan YH, Lin SC, Huang CC, Lin H, Wen KC, Chao KC, Lai CR, Wang PH, Chuang CM, Wu HH, Twu NF, Yen MS, Hsiao M, Huang CY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26716408", "url": "https://glygen.org/publication/PubMed/26716408" } ] }, { "title": "Combination therapy of RY10-4 with the gamma-secretase inhibitor DAPT shows promise in treating HER2-amplified breast cancer.", "journal": "Oncotarget", "date": "2016", "authors": "Su F, Zhu S, Ruan J, Muftuoglu Y, Zhang L, Yuan Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26716652", "url": "https://glygen.org/publication/PubMed/26716652" } ] }, { "title": "Downregulation of AKT3 Increases Migration and Metastasis in Triple Negative Breast Cancer Cells by Upregulating S100A4.", "journal": "PloS one", "date": "2016", "authors": "Grottke A, Ewald F, Lange T, Norz D, Herzberger C, Bach J, Grabinski N, Graser L, Hoppner F, Nashan B, Schumacher U, Jucker M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26741489", "url": "https://glygen.org/publication/PubMed/26741489" } ] }, { "title": "Testosterone Antagonizes Doxorubicin-Induced Senescence of Cardiomyocytes.", "journal": "Journal of the American Heart Association", "date": "2016", "authors": "Altieri P, Barisione C, Lazzarini E, Garuti A, Bezante GP, Canepa M, Spallarossa P, Tocchetti CG, Bollini S, Brunelli C, Ameri P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26746999", "url": "https://glygen.org/publication/PubMed/26746999" } ] }, { "title": "Cadmium Activates Multiple Signaling Pathways That Coordinately Stimulate Akt Activity to Enhance c-Myc mRNA Stability.", "journal": "PloS one", "date": "2016", "authors": "Tsai JS, Chao CH, Lin LY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26751215", "url": "https://glygen.org/publication/PubMed/26751215" } ] }, { "title": "The dual targeting of insulin and insulin-like growth factor 1 receptor enhances the mTOR inhibitor-mediated antitumor efficacy in hepatocellular carcinoma.", "journal": "Oncotarget", "date": "2016-03-01", "authors": "Pivonello Claudia, Negri Mariarosaria, De Martino Maria Cristina, Napolitano Maria, de Angelis Cristina, Provvisiero Donatella Paola, Cuomo Gaia, Auriemma Renata Simona, Simeoli Chiara, Izzo Francesco, Colao Annamaria, Hofland Leo J, Pivonello Rosario", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26756219", "url": "https://glygen.org/publication/PubMed/26756219" } ] }, { "title": "The Oligo Fucoidan Inhibits Platelet-Derived Growth Factor-Stimulated Proliferation of Airway Smooth Muscle Cells.", "journal": "Marine drugs", "date": "2016", "authors": "Yang CH, Tsao CF, Ko WS, Chiou YL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26761017", "url": "https://glygen.org/publication/PubMed/26761017" } ] }, { "title": "Yin Yang 1 promotes mTORC2-mediated AKT phosphorylation.", "journal": "Journal of molecular cell biology", "date": "2016", "authors": "Zhang Q, Wan M, Shi J, Horita DA, Miller LD, Kute TE, Kridel SJ, Kulik G, Sui G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26762111", "url": "https://glygen.org/publication/PubMed/26762111" } ] }, { "title": "Molecular Determinants of GS-9620-Dependent TLR7 Activation.", "journal": "PloS one", "date": "2016", "authors": "Rebbapragada I, Birkus G, Perry J, Xing W, Kwon H, Pflanz S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26784926", "url": "https://glygen.org/publication/PubMed/26784926" } ] }, { "title": "Insulin-like growth factors are essential to prevent anoikis in oestrogen-responsive breast cancer cells: importance of the type I IGF receptor and PI3-kinase/Akt pathway.", "journal": "Molecular cancer", "date": "2016", "authors": "Luey BC, May FE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26801096", "url": "https://glygen.org/publication/PubMed/26801096" } ] }, { "title": "miR-302 regulates pluripotency, teratoma formation and differentiation in stem cells via an AKT1/OCT4-dependent manner.", "journal": "Cell death & disease", "date": "2016", "authors": "Li HL, Wei JF, Fan LY, Wang SH, Zhu L, Li TP, Lin G, Sun Y, Sun ZJ, Ding J, Liang XL, Li J, Han Q, Zhao RC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26821070", "url": "https://glygen.org/publication/PubMed/26821070" } ] }, { "title": "Targeting the mTOR Complex by Everolimus in NRAS Mutant Neuroblastoma.", "journal": "PloS one", "date": "2016", "authors": "Kiessling MK, Curioni-Fontecedro A, Samaras P, Lang S, Scharl M, Aguzzi A, Oldrige DA, Maris JM, Rogler G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26821351", "url": "https://glygen.org/publication/PubMed/26821351" } ] }, { "title": "Enhanced gefitinib-induced repression of the epidermal growth factor receptor pathway by ataxia telangiectasia-mutated kinase inhibition in non-small-cell lung cancer cells.", "journal": "Cancer science", "date": "2016-04", "authors": "Misumi Keizo, Sun Jiying, Kinomura Aiko, Miyata Yoshihiro, Okada Morihito, Tashiro Satoshi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26825989", "url": "https://glygen.org/publication/PubMed/26825989" } ] }, { "title": "miR-126 Regulates Distinct Self-Renewal Outcomes in Normal and Malignant Hematopoietic Stem Cells.", "journal": "Cancer cell", "date": "2016", "authors": "Lechman ER, Gentner B, Ng SW, Schoof EM, van Galen P, Kennedy JA, Nucera S, Ciceri F, Kaufmann KB, Takayama N, Dobson SM, Trotman-Grant A, Krivdova G, Elzinga J, Mitchell A, Nilsson B, Hermans KG, Eppert K, Marke R, Isserlin R, Voisin V, Bader GD, Zandstra PW, Golub TR, Ebert BL, Lu J, Minden M, Wang JC, Naldini L, Dick JE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26832662", "url": "https://glygen.org/publication/PubMed/26832662" } ] }, { "title": "Endothelium-Independent Hypoxic Contraction Is Prevented Specifically by Nitroglycerin via Inhibition of Akt Kinase in Porcine Coronary Artery.", "journal": "Stem cells international", "date": "2016", "authors": "Liu H, Li Y, An Y, He P, Wu L, Gao Y, Dou D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26839558", "url": "https://glygen.org/publication/PubMed/26839558" } ] }, { "title": "Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells.", "journal": "Oncotarget", "date": "2016", "authors": "Varin J, Poulain L, Hivelin M, Nusbaum P, Hubas A, Laurendeau I, Lantieri L, Wolkenstein P, Vidaud M, Pasmant E, Chapuis N, Parfait B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26840085", "url": "https://glygen.org/publication/PubMed/26840085" } ] }, { "title": "Ramentaceone, a Naphthoquinone Derived from Drosera sp., Induces Apoptosis by Suppressing PI3K/Akt Signaling in Breast Cancer Cells.", "journal": "PloS one", "date": "2016", "authors": "Kawiak A, Lojkowska E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26840401", "url": "https://glygen.org/publication/PubMed/26840401" } ] }, { "title": "Reelin promotes the adhesion and drug resistance of multiple myeloma cells via integrin beta1 signaling and STAT3.", "journal": "Oncotarget", "date": "2016", "authors": "Lin L, Yan F, Zhao D, Lv M, Liang X, Dai H, Qin X, Zhang Y, Hao J, Sun X, Yin Y, Huang X, Zhang J, Lu J, Ge Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26848618", "url": "https://glygen.org/publication/PubMed/26848618" } ] }, { "title": "Co-activation of AKT and c-Met triggers rapid hepatocellular carcinoma development via the mTORC1/FASN pathway in mice.", "journal": "Scientific reports", "date": "2016", "authors": "Hu J, Che L, Li L, Pilo MG, Cigliano A, Ribback S, Li X, Latte G, Mela M, Evert M, Dombrowski F, Zheng G, Chen X, Calvisi DF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26857837", "url": "https://glygen.org/publication/PubMed/26857837" } ] }, { "title": "The sonic hedgehog signaling pathway stimulates anaplastic thyroid cancer cell motility and invasiveness by activating Akt and c-Met.", "journal": "Oncotarget", "date": "2016", "authors": "Williamson AJ, Doscas ME, Ye J, Heiden KB, Xing M, Li Y, Prinz RA, Xu X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26859575", "url": "https://glygen.org/publication/PubMed/26859575" } ] }, { "title": "Therapeutic approach to target mesothelioma cancer cells using the Wnt antagonist, secreted frizzled-related protein 4: Metabolic state of cancer cells.", "journal": "Experimental cell research", "date": "2016", "authors": "Perumal V, Pohl S, Keane KN, Arfuso F, Newsholme P, Fox S, Dharmarajan A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26868304", "url": "https://glygen.org/publication/PubMed/26868304" } ] }, { "title": "Cyclin-dependent kinase 2 protects podocytes from apoptosis.", "journal": "Scientific reports", "date": "2016", "authors": "Saurus P, Kuusela S, Dumont V, Lehtonen E, Fogarty CL, Lassenius MI, Forsblom C, Lehto M, Saleem MA, Groop PH, Lehtonen S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26876672", "url": "https://glygen.org/publication/PubMed/26876672" } ] }, { "title": "Heat shock protein 27 downstream of P38-PI3K/Akt signaling antagonizes melatonin-induced apoptosis of SGC-7901 gastric cancer cells.", "journal": "Cancer cell international", "date": "2016", "authors": "Deng W, Zhang Y, Gu L, Cui J, Duan B, Wang Y, Du J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26877709", "url": "https://glygen.org/publication/PubMed/26877709" } ] }, { "title": "Interleukin-6-stimulated progranulin expression contributes to the malignancy of hepatocellular carcinoma cells by activating mTOR signaling.", "journal": "Scientific reports", "date": "2016", "authors": "Liu F, Zhang W, Yang F, Feng T, Zhou M, Yu Y, Yu X, Zhao W, Yi F, Tang W, Lu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26879559", "url": "https://glygen.org/publication/PubMed/26879559" } ] }, { "title": "Ghrelin induces colon cancer cell proliferation through the GHS-R, Ras, PI3K, Akt, and mTOR signaling pathways.", "journal": "European journal of pharmacology", "date": "2016", "authors": "Lien GS, Lin CH, Yang YL, Wu MS, Chen BC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26879868", "url": "https://glygen.org/publication/PubMed/26879868" } ] }, { "title": "Withaferin-A suppress AKT induced tumor growth in colorectal cancer cells.", "journal": "Oncotarget", "date": "2016", "authors": "Suman S, Das TP, Sirimulla S, Alatassi H, Ankem MK, Damodaran C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26883103", "url": "https://glygen.org/publication/PubMed/26883103" } ] }, { "title": "Resveratrol augments ER stress and the cytotoxic effects of glycolytic inhibition in neuroblastoma by downregulating Akt in a mechanism independent of SIRT1.", "journal": "Experimental & molecular medicine", "date": "2016", "authors": "Graham RM, Hernandez F, Puerta N, De Angulo G, Webster KA, Vanni S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26891914", "url": "https://glygen.org/publication/PubMed/26891914" } ] }, { "title": "New 3-Cyano-2-Substituted Pyridines Induce Apoptosis in MCF 7 Breast Cancer Cells.", "journal": "Molecules (Basel, Switzerland)", "date": "2016", "authors": "Malki A, Mohsen M, Aziz H, Rizk O, Shaban O, El-Sayed M, Sherif ZA, Ashour H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26901182", "url": "https://glygen.org/publication/PubMed/26901182" } ] }, { "title": "AKT-p53 axis protect cancer cells from autophagic cell death during nutrition deprivation.", "journal": "Biochemical and biophysical research communications", "date": "2016", "authors": "Sudhagar S, Sathya S, Gokulapriya G, Lakshmi BS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26903300", "url": "https://glygen.org/publication/PubMed/26903300" } ] }, { "title": "IL-13 improves beta-cell survival and protects against IL-1beta-induced beta-cell death.", "journal": "Molecular metabolism", "date": "2016", "authors": "Rutti S, Howald C, Arous C, Dermitzakis E, Halban PA, Bouzakri K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26909320", "url": "https://glygen.org/publication/PubMed/26909320" } ] }, { "title": "Exosome-mediated transfer of miR-222 is sufficient to increase tumor malignancy in melanoma.", "journal": "Journal of translational medicine", "date": "2016", "authors": "Felicetti F, De Feo A, Coscia C, Puglisi R, Pedini F, Pasquini L, Bellenghi M, Errico MC, Pagani E, Care A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26912358", "url": "https://glygen.org/publication/PubMed/26912358" } ] }, { "title": "Overexpression of DJ-1/PARK7, the Parkinson's disease-related protein, improves mitochondrial function via Akt phosphorylation on threonine 308 in dopaminergic neuron-like cells.", "journal": "The European journal of neuroscience", "date": "2016-05", "authors": "Zhang Yi, Gong Xiao-Gang, Wang Zhen-Zhen, Sun Hong-Mei, Guo Zhen-Yu, Hu Jing-Hong, Ma Ling, Li Ping, Chen Nai-Hong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26913805", "url": "https://glygen.org/publication/PubMed/26913805" } ] }, { "title": "Inhibition of protein kinase CK2 by CX-5011 counteracts imatinib-resistance preventing rpS6 phosphorylation in chronic myeloid leukaemia cells: new combined therapeutic strategies.", "journal": "Oncotarget", "date": "2016", "authors": "Salizzato V, Borgo C, Cesaro L, Pinna LA, Donella-Deana A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26919095", "url": "https://glygen.org/publication/PubMed/26919095" } ] }, { "title": "Liver fatty acid-binding protein (L-FABP) promotes cellular angiogenesis and migration in hepatocellular carcinoma.", "journal": "Oncotarget", "date": "2016", "authors": "Ku CY, Liu YH, Lin HY, Lu SC, Lin JY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26919097", "url": "https://glygen.org/publication/PubMed/26919097" } ] }, { "title": "Mechanosensitive caveolin-1 activation-induced PI3K/Akt/mTOR signaling pathway promotes breast cancer motility, invadopodia formation and metastasis in vivo.", "journal": "Oncotarget", "date": "2016", "authors": "Yang H, Guan L, Li S, Jiang Y, Xiong N, Li L, Wu C, Zeng H, Liu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26919102", "url": "https://glygen.org/publication/PubMed/26919102" } ] }, { "title": "Role of erythropoietin in the angiogenic activity of bone marrow endothelial cells of MGUS and multiple myeloma patients.", "journal": "Oncotarget", "date": "2016", "authors": "Lamanuzzi A, Saltarella I, Ferrucci A, Ria R, Ruggieri S, Racanelli V, Rao L, Annese T, Nico B, Vacca A, Ribatti D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26919105", "url": "https://glygen.org/publication/PubMed/26919105" } ] }, { "title": "Anti-tumor effects of Atractylenolide I on bladder cancer cells.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2016", "authors": "Yu R, Yu BX, Chen JF, Lv XY, Yan ZJ, Cheng Y, Ma Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26931119", "url": "https://glygen.org/publication/PubMed/26931119" } ] }, { "title": "Serum Amyloid A Induces Inflammation, Proliferation and Cell Death in Activated Hepatic Stellate Cells.", "journal": "PloS one", "date": "2016", "authors": "Siegmund SV, Schlosser M, Schildberg FA, Seki E, De Minicis S, Uchinami H, Kuntzen C, Knolle PA, Strassburg CP, Schwabe RF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26937641", "url": "https://glygen.org/publication/PubMed/26937641" } ] }, { "title": "N-Hydroxyphthalimide exhibits antitumor activity by suppressing mTOR signaling pathway in BT-20 and LoVo cells.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2016", "authors": "Wang M, Zhou A, An T, Kong L, Yu C, Liu J, Xia C, Zhou H, Li Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26940018", "url": "https://glygen.org/publication/PubMed/26940018" } ] }, { "title": "APIP, an ERBB3-binding partner, stimulates erbB2-3 heterodimer formation to promote tumorigenesis.", "journal": "Oncotarget", "date": "2016", "authors": "Hong SH, Lee WJ, Kim YD, Kim H, Jeon YJ, Lim B, Cho DH, Heo WD, Yang DH, Kim CY, Yang HK, Yang JK, Jung YK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26942872", "url": "https://glygen.org/publication/PubMed/26942872" } ] }, { "title": "Capillary Isoelectric Focusing of Akt Isoforms Identifies Highly Dynamic Phosphorylation in Neuronal Cells and Brain Tissue.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Schrotter S, Leondaritis G, Eickholt BJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26945062", "url": "https://glygen.org/publication/PubMed/26945062" } ] }, { "title": "Ganoderma lucidum Combined with the EGFR Tyrosine Kinase Inhibitor, Erlotinib Synergize to Reduce Inflammatory Breast Cancer Progression.", "journal": "Journal of Cancer", "date": "2016", "authors": "Suarez-Arroyo IJ, Rios-Fuller TJ, Feliz-Mosquea YR, Lacourt-Ventura M, Leal-Alviarez DJ, Maldonado-Martinez G, Cubano LA, Martinez-Montemayor MM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26958085", "url": "https://glygen.org/publication/PubMed/26958085" } ] }, { "title": "Asymmetric Dimethylarginine Stimulates Akt1 Phosphorylation via Heat Shock Protein 70-Facilitated Carboxyl-Terminal Modulator Protein Degradation in Pulmonary Arterial Endothelial Cells.", "journal": "American journal of respiratory cell and molecular biology", "date": "2016", "authors": "Sun X, Kellner M, Desai AA, Wang T, Lu Q, Kangath A, Qu N, Klinger C, Fratz S, Yuan JX, Jacobson JR, Garcia JG, Rafikov R, Fineman JR, Black SM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26959555", "url": "https://glygen.org/publication/PubMed/26959555" } ] }, { "title": "Suppression of B-Raf(V600E) cancers by MAPK hyper-activation.", "journal": "Oncotarget", "date": "2016", "authors": "Atiq R, Hertz R, Eldad S, Smeir E, Bar-Tana J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26959890", "url": "https://glygen.org/publication/PubMed/26959890" } ] }, { "title": "PTEN opposes negative selection and enables oncogenic transformation of pre-B cells.", "journal": "Nature medicine", "date": "2016", "authors": "Shojaee S, Chan LN, Buchner M, Cazzaniga V, Cosgun KN, Geng H, Qiu YH, von Minden MD, Ernst T, Hochhaus A, Cazzaniga G, Melnick A, Kornblau SM, Graeber TG, Wu H, Jumaa H, Muschen M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26974310", "url": "https://glygen.org/publication/PubMed/26974310" } ] }, { "title": "GSK3beta regulates AKT-induced central nervous system axon regeneration via an eIF2Bepsilon-dependent, mTORC1-independent pathway.", "journal": "eLife", "date": "2016", "authors": "Guo X, Snider WD, Chen B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26974342", "url": "https://glygen.org/publication/PubMed/26974342" } ] }, { "title": "Fluvoxamine, an anti-depressant, inhibits human glioblastoma invasion by disrupting actin polymerization.", "journal": "Scientific reports", "date": "2016", "authors": "Hayashi K, Michiue H, Yamada H, Takata K, Nakayama H, Wei FY, Fujimura A, Tazawa H, Asai A, Ogo N, Miyachi H, Nishiki T, Tomizawa K, Takei K, Matsui H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26988603", "url": "https://glygen.org/publication/PubMed/26988603" } ] }, { "title": "Transforming Growth Factor-beta Is an Upstream Regulator of Mammalian Target of Rapamycin Complex 2-Dependent Bladder Cancer Cell Migration and Invasion.", "journal": "The American journal of pathology", "date": "2016", "authors": "Gupta S, Hau AM, Al-Ahmadie HA, Harwalkar J, Shoskes AC, Elson P, Beach JR, Hussey GS, Schiemann WP, Egelhoff TT, Howe PH, Hansel DE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26988652", "url": "https://glygen.org/publication/PubMed/26988652" } ] }, { "title": "Ftx non coding RNA-derived miR-545 promotes cell proliferation by targeting RIG-I in hepatocellular carcinoma.", "journal": "Oncotarget", "date": "2016-05-03", "authors": "Liu Zhikui, Dou Changwei, Yao Bowen, Xu Meng, Ding Linglong, Wang Yufeng, Jia Yuli, Li Qing, Zhang Hongyong, Tu Kangsheng, Song Tao, Liu Qingguang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26992218", "url": "https://glygen.org/publication/PubMed/26992218" } ] }, { "title": "DEPTOR promotes survival of cervical squamous cell carcinoma cells and its silencing induces apoptosis through downregulating PI3K/AKT and by up-regulating p38 MAP kinase.", "journal": "Oncotarget", "date": "2016", "authors": "Srinivas KP, Viji R, Dan VM, Sajitha IS, Prakash R, Rahul PV, Santhoshkumar TR, Lakshmi S, Pillai MR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26992219", "url": "https://glygen.org/publication/PubMed/26992219" } ] }, { "title": "PIM1 destabilization activates a p53-dependent response to ribosomal stress in cancer cells.", "journal": "Oncotarget", "date": "2016", "authors": "Sagar V, Caldarola S, Aria V, Monteleone V, Fuoco C, Gargioli C, Cannata S, Loreni F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26993775", "url": "https://glygen.org/publication/PubMed/26993775" } ] }, { "title": "Protection against MPP(+)-induced neurotoxicity in SH-SY5Y cells by tormentic acid via the activation of PI3-K/Akt/GSK3beta pathway.", "journal": "Neurochemistry international", "date": "2016", "authors": "Zhao Q, Ye J, Wei N, Fong C, Dong X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26994872", "url": "https://glygen.org/publication/PubMed/26994872" } ] }, { "title": "Akt inhibitor MK-2206 enhances the effect of cisplatin in gastric cancer cells.", "journal": "Biomedical reports", "date": "2016", "authors": "Tao K, Yin Y, Shen Q, Chen Y, Li R, Chang W, Bai J, Liu W, Shi L, Zhang P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26998277", "url": "https://glygen.org/publication/PubMed/26998277" } ] }, { "title": "SIRT3 Deficiency Induces Endothelial Insulin Resistance and Blunts Endothelial-Dependent Vasorelaxation in Mice and Human with Obesity.", "journal": "Scientific reports", "date": "2016", "authors": "Yang L, Zhang J, Xing W, Zhang X, Xu J, Zhang H, Chen L, Ning X, Ji G, Li J, Zhao Q, Gao F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27000941", "url": "https://glygen.org/publication/PubMed/27000941" } ] }, { "title": "Irisin Increased the Number and Improved the Function of Endothelial Progenitor Cells in Diabetes Mellitus Mice.", "journal": "Journal of cardiovascular pharmacology", "date": "2016-07", "authors": "Zhu Guangxu, Wang Jinxiang, Song Mingbao, Zhou Fang, Fu Dagan, Ruan Guangping, Zhu Xiangqing, Bai Yinyin, Huang Lan, Pang Rongqing, Kang Huali, Pan Xinghua", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27002278", "url": "https://glygen.org/publication/PubMed/27002278" } ] }, { "title": "Oncogenic AKT1(E17K) mutation induces mammary hyperplasia but prevents HER2-driven tumorigenesis.", "journal": "Oncotarget", "date": "2016", "authors": "Mancini ML, Lien EC, Toker A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27004402", "url": "https://glygen.org/publication/PubMed/27004402" } ] }, { "title": "Cell line with endogenous EGFRvIII expression is a suitable model for research and drug development purposes.", "journal": "Oncotarget", "date": "2016", "authors": "Stec WJ, Rosiak K, Siejka P, Peciak J, Popeda M, Banaszczyk M, Pawlowska R, Treda C, Hulas-Bigoszewska K, Piaskowski S, Stoczynska-Fidelus E, Rieske P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27004406", "url": "https://glygen.org/publication/PubMed/27004406" } ] }, { "title": "Triptolide has anticancer and chemosensitization effects by down-regulating Akt activation through the MDM2/REST pathway in human breast cancer.", "journal": "Oncotarget", "date": "2016", "authors": "Xiong J, Su T, Qu Z, Yang Q, Wang Y, Li J, Zhou S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27004407", "url": "https://glygen.org/publication/PubMed/27004407" } ] }, { "title": "ZO-2 silencing induces renal hypertrophy through a cell cycle mechanism and the activation of YAP and the mTOR pathway.", "journal": "Molecular biology of the cell", "date": "2016-05-15", "authors": "Dom\u00ednguez-Calder\u00f3n Alaide, \u00c1vila-Flores Antonia, Ponce Arturo, L\u00f3pez-Bayghen Esther, Calder\u00f3n-Salinas Jos\u00e9-V\u00edctor, Luis Reyes Jos\u00e9, Ch\u00e1vez-Mungu\u00eda Bibiana, Segovia Jos\u00e9, Angulo Carla, Ram\u00edrez Leticia, Gallego-Guti\u00e9rrez Helios, Alarc\u00f3n Lourdes, Mart\u00edn-Tapia Dolores, Bautista-Garc\u00eda Pablo, Gonz\u00e1lez-Mariscal Lorenza", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27009203", "url": "https://glygen.org/publication/PubMed/27009203" } ] }, { "title": "Human cathelicidin LL-37 inhibits platelet aggregation and thrombosis via Src/PI3K/Akt signaling.", "journal": "Biochemical and biophysical research communications", "date": "2016", "authors": "Su W, Chen Y, Wang C, Ding X, Rwibasira G, Kong Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27012197", "url": "https://glygen.org/publication/PubMed/27012197" } ] }, { "title": "Expression profile of Wilms Tumor 1 (WT1) isoforms in undifferentiated and all-trans retinoic acid differentiated neuroblastoma cells.", "journal": "Genes & cancer", "date": "2016", "authors": "Maugeri G, D'Amico AG, Rasa DM, Reitano R, Saccone S, Federico C, Parenti R, Magro G, D'Agata V", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27014421", "url": "https://glygen.org/publication/PubMed/27014421" } ] }, { "title": "Chronic TGFbeta stimulation promotes the metastatic potential of lung cancer cells by Snail protein stabilization through integrin beta3-Akt-GSK3beta signaling.", "journal": "Oncotarget", "date": "2016", "authors": "Bae GY, Hong SK, Park JR, Kwon OS, Kim KT, Koo J, Oh E, Cha HJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27015122", "url": "https://glygen.org/publication/PubMed/27015122" } ] }, { "title": "Single-Molecule Analysis of Lipid-Protein Interactions in Crude Cell Lysates.", "journal": "Analytical chemistry", "date": "2016", "authors": "Arauz E, Aggarwal V, Jain A, Ha T, Chen J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27015152", "url": "https://glygen.org/publication/PubMed/27015152" } ] }, { "title": "Autophagy inhibition sensitizes WYE-354-induced anti-colon cancer activity in vitro and in vivo.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2016", "authors": "Wang L, Zhu YR, Wang S, Zhao S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27020593", "url": "https://glygen.org/publication/PubMed/27020593" } ] }, { "title": "mTORC1 is necessary but mTORC2 and GSK3beta are inhibitory for AKT3-induced axon regeneration in the central nervous system.", "journal": "eLife", "date": "2016", "authors": "Miao L, Yang L, Huang H, Liang F, Ling C, Hu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27026523", "url": "https://glygen.org/publication/PubMed/27026523" } ] }, { "title": "PI3K/Akt promotes feedforward mTORC2 activation through IKKalpha.", "journal": "Oncotarget", "date": "2016", "authors": "Dan HC, Antonia RJ, Baldwin AS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27027448", "url": "https://glygen.org/publication/PubMed/27027448" } ] }, { "title": "AZD2014 Radiosensitizes Oral Squamous Cell Carcinoma by Inhibiting AKT/mTOR Axis and Inducing G1/G2/M Cell Cycle Arrest.", "journal": "PloS one", "date": "2016", "authors": "Yu CC, Huang HB, Hung SK, Liao HF, Lee CC, Lin HY, Li SC, Ho HC, Hung CL, Su YC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27031247", "url": "https://glygen.org/publication/PubMed/27031247" } ] }, { "title": "Chloroquine increases phosphorylation of AMPK and Akt in myotubes.", "journal": "Heliyon", "date": "2016", "authors": "Spears LD, Tran AV, Qin CY, Hobbs SB, Burns CA, Royer NK, Zhang Z, Ralston L, Fisher JS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27047993", "url": "https://glygen.org/publication/PubMed/27047993" } ] }, { "title": "Activation of IGF1R/p110beta/AKT/mTOR confers resistance to alpha-specific PI3K inhibition.", "journal": "Breast cancer research : BCR", "date": "2016", "authors": "Leroy C, Ramos P, Cornille K, Bonenfant D, Fritsch C, Voshol H, Bentires-Alj M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27048245", "url": "https://glygen.org/publication/PubMed/27048245" } ] }, { "title": "Akt1-mediated Gata3 phosphorylation controls the repression of IFNgamma in memory-type Th2 cells.", "journal": "Nature communications", "date": "2016", "authors": "Hosokawa H, Tanaka T, Endo Y, Kato M, Shinoda K, Suzuki A, Motohashi S, Matsumoto M, Nakayama KI, Nakayama T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27053161", "url": "https://glygen.org/publication/PubMed/27053161" } ] }, { "title": "Intrinsic Deregulation of Vascular Smooth Muscle and Myofibroblast Differentiation in Mesenchymal Stromal Cells from Patients with Systemic Sclerosis.", "journal": "PloS one", "date": "2016", "authors": "Hegner B, Schaub T, Catar R, Kusch A, Wagner P, Essin K, Lange C, Riemekasten G, Dragun D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27054717", "url": "https://glygen.org/publication/PubMed/27054717" } ] }, { "title": "Dual inhibition of AKT/FLT3-ITD by A674563 overcomes FLT3 ligand-induced drug resistance in FLT3-ITD positive AML.", "journal": "Oncotarget", "date": "2016", "authors": "Wang A, Wu H, Chen C, Hu C, Qi Z, Wang W, Yu K, Liu X, Zou F, Zhao Z, Wu J, Liu J, Liu F, Wang L, Stone RM, Galinksy IA, Griffin JD, Zhang S, Weisberg EL, Liu J, Liu Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27074558", "url": "https://glygen.org/publication/PubMed/27074558" } ] }, { "title": "Tuning of AKT-pathway by Nef and its blockade by protease inhibitors results in limited recovery in latently HIV infected T-cell line.", "journal": "Scientific reports", "date": "2016", "authors": "Kumar A, Abbas W, Colin L, Khan KA, Bouchat S, Varin A, Larbi A, Gatot JS, Kabeya K, Vanhulle C, Delacourt N, Pasquereau S, Coquard L, Borch A, Konig R, Clumeck N, De Wit S, Rohr O, Rouzioux C, Fulop T, Van Lint C, Herbein G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27076174", "url": "https://glygen.org/publication/PubMed/27076174" } ] }, { "title": "c-Src activation promotes nasopharyngeal carcinoma metastasis by inducing the epithelial-mesenchymal transition via PI3K/Akt signaling pathway: a new and promising target for NPC.", "journal": "Oncotarget", "date": "2016", "authors": "Ke L, Xiang Y, Guo X, Lu J, Xia W, Yu Y, Peng Y, Wang L, Wang G, Ye Y, Yang J, Liang H, Kang T, Lv X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27078847", "url": "https://glygen.org/publication/PubMed/27078847" } ] }, { "title": "Microarray-Based Phospho-Proteomic Profiling of Complex Biological Systems.", "journal": "Translational oncology", "date": "2016", "authors": "Goodwin CR, Woodard CL, Zhou X, Pan J, Olivi A, Xia S, Bettegowda C, Sciubba DM, Pevsner J, Zhu H, Laterra J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27084428", "url": "https://glygen.org/publication/PubMed/27084428" } ] }, { "title": "Curcumin mediates oxaliplatin-acquired resistance reversion in colorectal cancer cell lines through modulation of CXC-Chemokine/NF-kappaB signalling pathway.", "journal": "Scientific reports", "date": "2016", "authors": "Ruiz de Porras V, Bystrup S, Martinez-Cardus A, Pluvinet R, Sumoy L, Howells L, James MI, Iwuji C, Manzano JL, Layos L, Buges C, Abad A, Martinez-Balibrea E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27091625", "url": "https://glygen.org/publication/PubMed/27091625" } ] }, { "title": "Calpain-2 activates Akt via TGF-beta1-mTORC2 pathway in pulmonary artery smooth muscle cells.", "journal": "American journal of physiology. Cell physiology", "date": "2016", "authors": "Abeyrathna P, Kovacs L, Han W, Su Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27099352", "url": "https://glygen.org/publication/PubMed/27099352" } ] }, { "title": "SK3/TRPC1/Orai1 complex regulates SOCE-dependent colon cancer cell migration: a novel opportunity to modulate anti-EGFR mAb action by the alkyl-lipid Ohmline.", "journal": "Oncotarget", "date": "2016-06-14", "authors": "Gu\u00e9guinou Maxime, Harnois Thomas, Crottes David, Uguen Arnaud, Deliot Nadine, Gambade Audrey, Chant\u00f4me Aur\u00e9lie, Haelters Jean Pierre, Jaffr\u00e8s Paul Alain, Jourdan Marie Lise, Weber G\u00fcnther, Soriani Olivier, Bougnoux Philippe, Mignen Olivier, Bourmeyster Nicolas, Constantin Bruno, Lecomte Thierry, Vandier Christophe, Potier-Cartereau Marie", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27102434", "url": "https://glygen.org/publication/PubMed/27102434" } ] }, { "title": "Impact of PI3K/AKT/mTOR pathway activation on the prognosis of patients with head and neck squamous cell carcinomas.", "journal": "Oncotarget", "date": "2016", "authors": "Garcia-Carracedo D, Villaronga MA, Alvarez-Teijeiro S, Hermida-Prado F, Santamaria I, Allonca E, Suarez-Fernandez L, Gonzalez MV, Balbin M, Astudillo A, Martinez-Camblor P, Su GH, Rodrigo JP, Garcia-Pedrero JM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27119232", "url": "https://glygen.org/publication/PubMed/27119232" } ] }, { "title": "Knockdown of CMTM3 promotes metastasis of gastric cancer via the STAT3/Twist1/EMT signaling pathway.", "journal": "Oncotarget", "date": "2016", "authors": "Yuan W, Li T, Mo X, Wang X, Liu B, Wang W, Su Y, Xu L, Han W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27121055", "url": "https://glygen.org/publication/PubMed/27121055" } ] }, { "title": "Wip1 suppresses ovarian cancer metastasis through the ATM/AKT/Snail mediated signaling.", "journal": "Oncotarget", "date": "2016", "authors": "Yin S, Wang P, Yang L, Liu Y, Wang Y, Liu M, Qi Z, Meng J, Shi TY, Yang G, Zang R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27121065", "url": "https://glygen.org/publication/PubMed/27121065" } ] }, { "title": "Dual Targeting of Akt and mTORC1 Impairs Repair of DNA Double-Strand Breaks and Increases Radiation Sensitivity of Human Tumor Cells.", "journal": "PloS one", "date": "2016", "authors": "Holler M, Grottke A, Mueck K, Manes J, Jucker M, Rodemann HP, Toulany M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27137757", "url": "https://glygen.org/publication/PubMed/27137757" } ] }, { "title": "PI3K/AKT Signaling Pathway Is Essential for Survival of Induced Pluripotent Stem Cells.", "journal": "PloS one", "date": "2016", "authors": "Hossini AM, Quast AS, Plotz M, Grauel K, Exner T, Kuchler J, Stachelscheid H, Eberle J, Rabien A, Makrantonaki E, Zouboulis CC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27138223", "url": "https://glygen.org/publication/PubMed/27138223" } ] }, { "title": "Inhibition of Cell Proliferation in an NRAS Mutant Melanoma Cell Line by Combining Sorafenib and alpha-Mangostin.", "journal": "PloS one", "date": "2016", "authors": "Xia Y, Li Y, Westover KD, Sun J, Chen H, Zhang J, Fisher DE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27152946", "url": "https://glygen.org/publication/PubMed/27152946" } ] }, { "title": "MicroRNA-194 Modulates Glucose Metabolism and Its Skeletal Muscle Expression Is Reduced in Diabetes.", "journal": "PloS one", "date": "2016", "authors": "Latouche C, Natoli A, Reddy-Luthmoodoo M, Heywood SE, Armitage JA, Kingwell BA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27163678", "url": "https://glygen.org/publication/PubMed/27163678" } ] }, { "title": "The pyrrolo-1,5-benzoxazepine, PBOX-15, enhances TRAILinduced apoptosis by upregulation of DR5 and downregulation of core cell survival proteins in acute lymphoblastic leukaemia cells.", "journal": "International journal of oncology", "date": "2016", "authors": "Nathwani SM, Greene LM, Butini S, Campiani G, Williams DC, Samali A, Szegezdi E, Zisterer DM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27176505", "url": "https://glygen.org/publication/PubMed/27176505" } ] }, { "title": "Differential neuronal vulnerability identifies IGF-2 as a protective factor in ALS.", "journal": "Scientific reports", "date": "2016", "authors": "Allodi I, Comley L, Nichterwitz S, Nizzardo M, Simone C, Benitez JA, Cao M, Corti S, Hedlund E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27180807", "url": "https://glygen.org/publication/PubMed/27180807" } ] }, { "title": "Thrombin Receptor-Activating Protein (TRAP)-Activated Akt Is Involved in the Release of Phosphorylated-HSP27 (HSPB1) from Platelets in DM Patients.", "journal": "International journal of molecular sciences", "date": "2016", "authors": "Tokuda H, Kuroyanagi G, Tsujimoto M, Matsushima-Nishiwaki R, Akamatsu S, Enomoto Y, Iida H, Otsuka T, Ogura S, Iwama T, Kojima K, Kozawa O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27187380", "url": "https://glygen.org/publication/PubMed/27187380" } ] }, { "title": "Methylation-mediated repression of microRNA-129-2 suppresses cell aggressiveness by inhibiting high mobility group box 1 in human hepatocellular carcinoma.", "journal": "Oncotarget", "date": "2016-06-14", "authors": "Liu Zhikui, Dou Changwei, Yao Bowen, Xu Meng, Ding Linglong, Wang Yufeng, Jia Yuli, Li Qing, Zhang Hongyong, Tu Kangsheng, Song Tao, Liu Qingguang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27191994", "url": "https://glygen.org/publication/PubMed/27191994" } ] }, { "title": "Fibroblast growth factor receptor 4 (FGFR4) and fibroblast growth factor 19 (FGF19) autocrine enhance breast cancer cells survival.", "journal": "Oncotarget", "date": "2016", "authors": "Tiong KH, Tan BS, Choo HL, Chung FF, Hii LW, Tan SH, Khor NT, Wong SF, See SJ, Tan YF, Rosli R, Cheong SK, Leong CO", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27192118", "url": "https://glygen.org/publication/PubMed/27192118" } ] }, { "title": "Epigallocatechin gallate sensitizes cisplatin-resistant oral cancer CAR cell apoptosis and autophagy through stimulating AKT/STAT3 pathway and suppressing multidrug resistance 1 signaling.", "journal": "Environmental toxicology", "date": "2017", "authors": "Yuan CH, Horng CT, Lee CF, Chiang NN, Tsai FJ, Lu CC, Chiang JH, Hsu YM, Yang JS, Chen FA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27200496", "url": "https://glygen.org/publication/PubMed/27200496" } ] }, { "title": "Cell type-dependent Erk-Akt pathway crosstalk regulates the proliferation of fetal neural progenitor cells.", "journal": "Scientific reports", "date": "2016", "authors": "Rhim JH, Luo X, Gao D, Xu X, Zhou T, Li F, Wang P, Wong ST, Xia X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27211495", "url": "https://glygen.org/publication/PubMed/27211495" } ] }, { "title": "Phosphorylation-dependent Akt-Inversin interaction at the basal body of primary cilia.", "journal": "The EMBO journal", "date": "2016", "authors": "Suizu F, Hirata N, Kimura K, Edamura T, Tanaka T, Ishigaki S, Donia T, Noguchi H, Iwanaga T, Noguchi M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27220846", "url": "https://glygen.org/publication/PubMed/27220846" } ] }, { "title": "Morphoproteomics and biomedical analytics confirm the mTORC2/Akt pathway as a resistance signature and activated ERK and STAT3 as concomitant prosurvival/antiapoptotic pathways in metastatic renal cell carcinoma (RCC) progressing on rapalogs: pathogenesis and therapeutic options.", "journal": "Oncotarget", "date": "2016", "authors": "Brown RE, Buryanek J, Tammisetti VS, McGuire MF, Csencsits-Smith K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27223432", "url": "https://glygen.org/publication/PubMed/27223432" } ] }, { "title": "PTEN negatively regulates mTORC2 formation and signaling in grade IV glioma via Rictor hyperphosphorylation at Thr1135 and direct the mode of action of an mTORC1/2 inhibitor.", "journal": "Oncogenesis", "date": "2016", "authors": "Bhattacharya K, Maiti S, Mandal C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27239959", "url": "https://glygen.org/publication/PubMed/27239959" } ] }, { "title": "Tamoxifen-induced cytotoxicity in breast cancer cells is mediated by glucose-regulated protein 78 (GRP78) via AKT (Thr308) regulation.", "journal": "The international journal of biochemistry & cell biology", "date": "2016", "authors": "Pujari R, Jose J, Bhavnani V, Kumar N, Shastry P, Pal JK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27262235", "url": "https://glygen.org/publication/PubMed/27262235" } ] }, { "title": "Combinatorial Antitumor Effect of Rapamycin and beta-Elemene in Follicular Thyroid Cancer Cells.", "journal": "BioMed research international", "date": "2016", "authors": "Zhou J, He LL, Ding XF, Yuan QQ, Zhang JX, Liu SC, Chen G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27274989", "url": "https://glygen.org/publication/PubMed/27274989" } ] }, { "title": "Pharmacological activation of FOXO3 suppresses triple-negative breast cancer in vitro and in vivo.", "journal": "Oncotarget", "date": "2016-07-05", "authors": "Park See-Hyoung, Chung Young Min, Ma Jessica, Yang Qin, Berek Jonathan S, Hu Mickey C-T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27283899", "url": "https://glygen.org/publication/PubMed/27283899" } ] }, { "title": "Musashi-1 regulates AKT-derived IL-6 autocrinal/paracrinal malignancy and chemoresistance in glioblastoma.", "journal": "Oncotarget", "date": "2016", "authors": "Chen HY, Lin LT, Wang ML, Lee SH, Tsai ML, Tsai CC, Liu WH, Chen TC, Yang YP, Lee YY, Chang YL, Huang PI, Chen YW, Lo WL, Chiou SH, Chen MT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27285760", "url": "https://glygen.org/publication/PubMed/27285760" } ] }, { "title": "Anti-Breast Cancer Potential of Quercetin via the Akt/AMPK/Mammalian Target of Rapamycin (mTOR) Signaling Cascade.", "journal": "PloS one", "date": "2016", "authors": "Rivera Rivera A, Castillo-Pichardo L, Gerena Y, Dharmawardhane S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27285995", "url": "https://glygen.org/publication/PubMed/27285995" } ] }, { "title": "Mechanistic insights of O-GlcNAcylation that promote progression of cholangiocarcinoma cells via nuclear translocation of NF-kappaB.", "journal": "Scientific reports", "date": "2016", "authors": "Phoomak C, Vaeteewoottacharn K, Sawanyawisuth K, Seubwai W, Wongkham C, Silsirivanit A, Wongkham S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27290989", "url": "https://glygen.org/publication/PubMed/27290989" } ] }, { "title": "Nanoparticle Delivered Human Biliverdin Reductase-Based Peptide Increases Glucose Uptake by Activating IRK/Akt/GSK3 Axis: The Peptide Is Effective in the Cell and Wild-Type and Diabetic Ob/Ob Mice.", "journal": "Journal of diabetes research", "date": "2016", "authors": "Gibbs PE, Miralem T, Lerner-Marmarosh N, Maines MD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27294151", "url": "https://glygen.org/publication/PubMed/27294151" } ] }, { "title": "Blockage of Autophagy Rescues the Dual PI3K/mTOR Inhibitor BEZ235-induced Growth Inhibition of Colorectal Cancer Cells.", "journal": "Development & reproduction", "date": "2016", "authors": "Oh I, Cho H, Lee Y, Cheon M, Park D, Lee Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27294206", "url": "https://glygen.org/publication/PubMed/27294206" } ] }, { "title": "The cleaved FAS ligand activates the Na(+)/H(+) exchanger NHE1 through Akt/ROCK1 to stimulate cell motility.", "journal": "Scientific reports", "date": "2016", "authors": "Monet M, Poet M, Tauzin S, Fouque A, Cophignon A, Lagadic-Gossmann D, Vacher P, Legembre P, Counillon L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27302366", "url": "https://glygen.org/publication/PubMed/27302366" } ] }, { "title": "Calcineurin complex isolated from T-cell acute lymphoblastic leukemia (T-ALL) cells identifies new signaling pathways including mTOR/AKT/S6K whose inhibition synergize with calcineurin inhibition to promote T-ALL cell death.", "journal": "Oncotarget", "date": "2016", "authors": "Tosello V, Saccomani V, Yu J, Bordin F, Amadori A, Piovan E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27304189", "url": "https://glygen.org/publication/PubMed/27304189" } ] }, { "title": "Fibulin-5 Regulates Angiopoietin-1/Tie-2 Receptor Signaling in Endothelial Cells.", "journal": "PloS one", "date": "2016", "authors": "Chan W, Ismail H, Mayaki D, Sanchez V, Tiedemann K, Davis EC, Hussain SN", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27304216", "url": "https://glygen.org/publication/PubMed/27304216" } ] }, { "title": "VEGF signaling, mTOR complexes, and the endoplasmic reticulum: Towards a role of metabolic sensing in the regulation of angiogenesis.", "journal": "Molecular & cellular oncology", "date": "2014", "authors": "Karali Evdoxia, Bellou Sofia, Stellas Dimitris, Klinakis Apostolos, Murphy Carol, Fotsis Theodore", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27308350", "url": "https://glygen.org/publication/PubMed/27308350" } ] }, { "title": "Giant obscurins regulate the PI3K cascade in breast epithelial cells via direct binding to the PI3K/p85 regulatory subunit.", "journal": "Oncotarget", "date": "2016", "authors": "Shriver M, Marimuthu S, Paul C, Geist J, Seale T, Konstantopoulos K, Kontrogianni-Konstantopoulos A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27323778", "url": "https://glygen.org/publication/PubMed/27323778" } ] }, { "title": "Frizzled2 signaling regulates growth of high-risk neuroblastomas by interfering with beta-catenin-dependent and beta-catenin-independent signaling pathways.", "journal": "Oncotarget", "date": "2016", "authors": "Zins K, Schafer R, Paulus P, Dobler S, Fakhari N, Sioud M, Aharinejad S, Abraham D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27323822", "url": "https://glygen.org/publication/PubMed/27323822" } ] }, { "title": "The cannabinoid WIN 55,212-2 prevents neuroendocrine differentiation of LNCaP prostate cancer cells.", "journal": "Prostate cancer and prostatic diseases", "date": "2016", "authors": "Morell C, Bort A, Vara D, Ramos-Torres A, Rodriguez-Henche N, Diaz-Laviada I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27324222", "url": "https://glygen.org/publication/PubMed/27324222" } ] }, { "title": "Carboxyl-Terminal Modulator Protein Positively Acts as an Oncogenic Driver in Head and Neck Squamous Cell Carcinoma via Regulating Akt phosphorylation.", "journal": "Scientific reports", "date": "2016", "authors": "Chang JW, Jung SN, Kim JH, Shim GA, Park HS, Liu L, Kim JM, Park J, Koo BS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27328758", "url": "https://glygen.org/publication/PubMed/27328758" } ] }, { "title": "Thioredoxin reductase 1 suppresses adipocyte differentiation and insulin responsiveness.", "journal": "Scientific reports", "date": "2016", "authors": "Peng X, Gimenez-Cassina A, Petrus P, Conrad M, Ryden M, Arner ES", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27346647", "url": "https://glygen.org/publication/PubMed/27346647" } ] }, { "title": "Targeting mTOR pathway inhibits tumor growth in different molecular subtypes of triple-negative breast cancers.", "journal": "Oncotarget", "date": "2016-07-26", "authors": "Hatem Rana, El Botty Rania, Chateau-Joubert Sophie, Servely Jean-Luc, Labiod Dalila, de Plater Ludmilla, Assayag Franck, Coussy Florence, Callens C\u00e9line, Vacher Sophie, Reyal Fabien, Cosulich Sabina, Di\u00e9ras V\u00e9ronique, Bi\u00e8che Ivan, Marangoni Elisabetta", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27374081", "url": "https://glygen.org/publication/PubMed/27374081" } ] }, { "title": "Rationally Repurposing Ruxolitinib (Jakafi ((R))) as a Solid Tumor Therapeutic.", "journal": "Frontiers in oncology", "date": "2016", "authors": "Tavallai M, Booth L, Roberts JL, Poklepovic A, Dent P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27379204", "url": "https://glygen.org/publication/PubMed/27379204" } ] }, { "title": "Protein kinase A can block EphA2 receptor-mediated cell repulsion by increasing EphA2 S897 phosphorylation.", "journal": "Molecular biology of the cell", "date": "2016", "authors": "Barquilla A, Lamberto I, Noberini R, Heynen-Genel S, Brill LM, Pasquale EB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27385333", "url": "https://glygen.org/publication/PubMed/27385333" } ] }, { "title": "GSK-3 directly regulates phospho-4EBP1 in renal cell carcinoma cell-line: an intrinsic subcellular mechanism for resistance to mTORC1 inhibition.", "journal": "BMC cancer", "date": "2016", "authors": "Ito H, Ichiyanagi O, Naito S, Bilim VN, Tomita Y, Kato T, Nagaoka A, Tsuchiya N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27387559", "url": "https://glygen.org/publication/PubMed/27387559" } ] }, { "title": "Two new competing pathways establish the threshold for cyclin-B-Cdk1 activation at the meiotic G2/M transition.", "journal": "Journal of cell science", "date": "2016", "authors": "Hiraoka D, Aono R, Hanada S, Okumura E, Kishimoto T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27390173", "url": "https://glygen.org/publication/PubMed/27390173" } ] }, { "title": "MLN0128, a novel mTOR kinase inhibitor, disrupts survival signaling and triggers apoptosis in AML and AML stem/ progenitor cells.", "journal": "Oncotarget", "date": "2016", "authors": "Zeng Z, Wang RY, Qiu YH, Mak DH, Coombes K, Yoo SY, Zhang Q, Jessen K, Liu Y, Rommel C, Fruman DA, Kantarjian HM, Kornblau SM, Andreeff M, Konopleva M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27391151", "url": "https://glygen.org/publication/PubMed/27391151" } ] }, { "title": "Connexin43 recruits PTEN and Csk to inhibit c-Src activity in glioma cells and astrocytes.", "journal": "Oncotarget", "date": "2016", "authors": "Gonzalez-Sanchez A, Jaraiz-Rodriguez M, Dominguez-Prieto M, Herrero-Gonzalez S, Medina JM, Tabernero A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27391443", "url": "https://glygen.org/publication/PubMed/27391443" } ] }, { "title": "Over-expression of DNA-PKcs in renal cell carcinoma regulates mTORC2 activation, HIF-2alpha expression and cell proliferation.", "journal": "Scientific reports", "date": "2016", "authors": "Zheng B, Mao JH, Li XQ, Qian L, Zhu H, Gu DH, Pan XD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27412013", "url": "https://glygen.org/publication/PubMed/27412013" } ] }, { "title": "Effect of the long-acting insulin analogues glargine and degludec on cardiomyocyte cell signalling and function.", "journal": "Cardiovascular diabetology", "date": "2016-07-15", "authors": "Hartmann Thorsten, Overhagen Sabrina, Ouwens D Margriet, Raschke Silja, Wohlfart Paulus, Tennagels Norbert, Wronkowitz Nina, Eckel J\u00fcrgen", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27422524", "url": "https://glygen.org/publication/PubMed/27422524" } ] }, { "title": "CTMP, a predictive biomarker for trastuzumab resistance in HER2-enriched breast cancer patient.", "journal": "Oncotarget", "date": "2017", "authors": "Chen YC, Li HY, Liang JL, Ger LP, Chang HT, Hsiao M, Calkins MJ, Cheng HC, Chuang JH, Lu PJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27447863", "url": "https://glygen.org/publication/PubMed/27447863" } ] }, { "title": "HDAC10 promotes lung cancer proliferation via AKT phosphorylation.", "journal": "Oncotarget", "date": "2016", "authors": "Yang Y, Huang Y, Wang Z, Wang HT, Duan B, Ye D, Wang C, Jing R, Leng Y, Xi J, Chen W, Wang G, Jia W, Zhu S, Kang J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27449083", "url": "https://glygen.org/publication/PubMed/27449083" } ] }, { "title": "PDK1-SGK1 Signaling Sustains AKT-Independent mTORC1 Activation and Confers Resistance to PI3K\u03b1 Inhibition.", "journal": "Cancer cell", "date": "2016-08-08", "authors": "Castel Pau, Ellis Haley, Bago Ruzica, Toska Eneda, Razavi Pedram, Carmona F Javier, Kannan Srinivasaraghavan, Verma Chandra S, Dickler Maura, Chandarlapaty Sarat, Brogi Edi, Alessi Dario R, Baselga Jos\u00e9, Scaltriti Maurizio", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27451907", "url": "https://glygen.org/publication/PubMed/27451907" } ] }, { "title": "MK-2206 sensitizes BRCA-deficient epithelial ovarian adenocarcinoma to cisplatin and olaparib.", "journal": "BMC cancer", "date": "2016-07-27", "authors": "Whicker Margaret E, Lin Z Ping, Hanna Ruth, Sartorelli Alan C, Ratner Elena S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27465688", "url": "https://glygen.org/publication/PubMed/27465688" } ] }, { "title": "Polyfunctional Melan-A-specific tumor-reactive CD8(+) T cells elicited by dacarbazine treatment before peptide-vaccination depends on AKT activation sustained by ICOS.", "journal": "Oncoimmunology", "date": "2016-05", "authors": "Franzese Ornella, Palermo Belinda, Di Donna Cosmo, Sperduti Isabella, Ferraresi Virginia, Stabile Helena, Gismondi Angela, Santoni Angela, Nistic\u00f2 Paola", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27467927", "url": "https://glygen.org/publication/PubMed/27467927" } ] }, { "title": "Stress kinases, endoplasmic reticulum stress, and Alzheimer's disease related markers in peripheral blood mononuclear cells from subjects with increased body weight.", "journal": "Scientific reports", "date": "2016-08-02", "authors": "Lei Ting, Yu Lugang, Qin Liqiang, Xu Baohui, Zhou Lingmei, Cheng Jinbo, Zhou Hui, Pang Xing, Wan Zhongxiao", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27481183", "url": "https://glygen.org/publication/PubMed/27481183" } ] }, { "title": "The hVps34-SGK3 pathway alleviates sustained PI3K/Akt inhibition by stimulating mTORC1 and tumour growth.", "journal": "The EMBO journal", "date": "2016", "authors": "Bago R, Sommer E, Castel P, Crafter C, Bailey FP, Shpiro N, Baselga J, Cross D, Eyers PA, Alessi DR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27481935", "url": "https://glygen.org/publication/PubMed/27481935" } ] }, { "title": "The fibronectin III-1 domain activates a PI3-Kinase/Akt signaling pathway leading to alphavbeta5 integrin activation and TRAIL resistance in human lung cancer cells.", "journal": "BMC cancer", "date": "2016", "authors": "Cho C, Horzempa C, Jones D, McKeown-Longo PJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27484721", "url": "https://glygen.org/publication/PubMed/27484721" } ] }, { "title": "The underlying mechanism of proinflammatory NF-kappaB activation by the mTORC2/Akt/IKKalpha pathway during skin aging.", "journal": "Oncotarget", "date": "2016", "authors": "Choi YJ, Moon KM, Chung KW, Jeong JW, Park D, Kim DH, Yu BP, Chung HY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27486771", "url": "https://glygen.org/publication/PubMed/27486771" } ] }, { "title": "Interleukin-11 promotes epithelial-mesenchymal transition in anaplastic thyroid carcinoma cells through PI3K/Akt/GSK3beta signaling pathway activation.", "journal": "Oncotarget", "date": "2016", "authors": "Zhong Z, Hu Z, Jiang Y, Sun R, Chen X, Chu H, Zeng M, Sun C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27487122", "url": "https://glygen.org/publication/PubMed/27487122" } ] }, { "title": "Targeting hyperactivated DNA-PKcs by KU0060648 inhibits glioma progression and enhances temozolomide therapy via suppression of AKT signaling.", "journal": "Oncotarget", "date": "2016", "authors": "Lan T, Zhao Z, Qu Y, Zhang M, Wang H, Zhang Z, Zhou W, Fan X, Yu C, Zhan Q, Song Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27487130", "url": "https://glygen.org/publication/PubMed/27487130" } ] }, { "title": "B Cell Receptor Activation Predominantly Regulates AKT-mTORC1/2 Substrates Functionally Related to RNA Processing.", "journal": "PloS one", "date": "2016", "authors": "Mohammad DK, Ali RH, Turunen JJ, Nore BF, Smith CI", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27487157", "url": "https://glygen.org/publication/PubMed/27487157" } ] }, { "title": "Phosphatidyl inositol-3 kinase (PIK3CA) E545K mutation confers cisplatin resistance and a migratory phenotype in cervical cancer cells.", "journal": "Oncotarget", "date": "2016", "authors": "Arjumand W, Merry CD, Wang C, Saba E, McIntyre JB, Fang S, Kornaga E, Ghatage P, Doll CM, Lees-Miller SP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27489350", "url": "https://glygen.org/publication/PubMed/27489350" } ] }, { "title": "PI-103 and Quercetin Attenuate PI3K-AKT Signaling Pathway in T- Cell Lymphoma Exposed to Hydrogen Peroxide.", "journal": "PloS one", "date": "2016", "authors": "Maurya AK, Vinayak M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27494022", "url": "https://glygen.org/publication/PubMed/27494022" } ] }, { "title": "Twist1-induced epithelial-mesenchymal transition according to microsatellite instability status in colon cancer cells.", "journal": "Oncotarget", "date": "2016", "authors": "Oh BY, Kim SY, Lee YS, Hong HK, Kim TW, Kim SH, Lee WY, Cho YB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27494849", "url": "https://glygen.org/publication/PubMed/27494849" } ] }, { "title": "Healthy CD4+ T lymphocytes are not affected by targeted therapies against the PI3K/Akt/mTOR pathway in T-cell acute lymphoblastic leukemia.", "journal": "Oncotarget", "date": "2016", "authors": "Alameen AA, Simioni C, Martelli AM, Zauli G, Ultimo S, McCubrey JA, Gonelli A, Marisi G, Ulivi P, Capitani S, Neri LM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27494886", "url": "https://glygen.org/publication/PubMed/27494886" } ] }, { "title": "Hop derived flavonoid xanthohumol inhibits endothelial cell functions via AMPK activation.", "journal": "Oncotarget", "date": "2016", "authors": "Gallo C, Dallaglio K, Bassani B, Rossi T, Rossello A, Noonan DM, D'Uva G, Bruno A, Albini A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27494895", "url": "https://glygen.org/publication/PubMed/27494895" } ] }, { "title": "MK-2206 co-treatment with 5-fluorouracil or doxorubicin enhances chemosensitivity and apoptosis in gastric cancer by attenuation of Akt phosphorylation.", "journal": "OncoTargets and therapy", "date": "2016", "authors": "Jin P, Wong CC, Mei S, He X, Qian Y, Sun L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27499633", "url": "https://glygen.org/publication/PubMed/27499633" } ] }, { "title": "Menopause-induced uterine epithelium atrophy results from arachidonic acid/prostaglandin E2 axis inhibition-mediated autophagic cell death.", "journal": "Scientific reports", "date": "2016", "authors": "Zhou S, Zhao L, Yi T, Wei Y, Zhao X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27506466", "url": "https://glygen.org/publication/PubMed/27506466" } ] }, { "title": "Ephrin B3 interacts with multiple EphA receptors and drives migration and invasion in non-small cell lung cancer.", "journal": "Oncotarget", "date": "2016", "authors": "Efazat G, Novak M, Kaminskyy VO, De Petris L, Kanter L, Juntti T, Bergman P, Zhivotovsky B, Lewensohn R, Haag P, Viktorsson K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27533087", "url": "https://glygen.org/publication/PubMed/27533087" } ] }, { "title": "Signaling effects of sodium hydrosulfide in healthy donor peripheral blood mononuclear cells.", "journal": "Pharmacological research", "date": "2016", "authors": "Sulen A, Gullaksen SE, Bader L, McClymont DW, Skavland J, Gavasso S, Gjertsen BT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27543462", "url": "https://glygen.org/publication/PubMed/27543462" } ] }, { "title": "The Proprotein Convertase Furin Contributes to Rhabdomyosarcoma Malignancy by Promoting Vascularization, Migration and Invasion.", "journal": "PloS one", "date": "2016", "authors": "Jaaks Patricia, D'Alessandro Valentina, Grob Nicole, B\u00fcel Sina, Hajdin Katarina, Sch\u00e4fer Beat W, Bernasconi Michele", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27548722", "url": "https://glygen.org/publication/PubMed/27548722" } ] }, { "title": "Resveratrol chemosensitizes HER-2-overexpressing breast cancer cells to docetaxel chemoresistance by inhibiting docetaxel-mediated activation of HER-2-Akt axis.", "journal": "Cell death discovery", "date": "2015", "authors": "Vinod BS, Nair HH, Vijayakurup V, Shabna A, Shah S, Krishna A, Pillai KS, Thankachan S, Anto RJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27551486", "url": "https://glygen.org/publication/PubMed/27551486" } ] }, { "title": "Neuroprotective levels of IGF-1 exacerbate epileptogenesis after brain injury.", "journal": "Scientific reports", "date": "2016-08-26", "authors": "Song Yu, Pimentel Corrin, Walters Katherine, Boller Lauren, Ghiasvand Shabnam, Liu Jing, Staley Kevin J, Berdichevsky Yevgeny", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27561791", "url": "https://glygen.org/publication/PubMed/27561791" } ] }, { "title": "Phosphoproteomic Analyses of Interleukin 2 Signaling Reveal Integrated JAK Kinase-Dependent and -Independent Networks in CD8(+) T Cells.", "journal": "Immunity", "date": "2016-09-20", "authors": "Ross Sarah H, Rollings Christina, Anderson Karen E, Hawkins Phillip T, Stephens Len R, Cantrell Doreen A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27566939", "url": "https://glygen.org/publication/PubMed/27566939" } ] }, { "title": "In B cells, phosphatidylinositol 5-phosphate 4-kinase-alpha synthesizes PI(4,5)P2 to impact mTORC2 and Akt signaling.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2016", "authors": "Bulley SJ, Droubi A, Clarke JH, Anderson KE, Stephens LR, Hawkins PT, Irvine RF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27601656", "url": "https://glygen.org/publication/PubMed/27601656" } ] }, { "title": "Human cytomegalovirus encoded chemokine receptor US28 activates the HIF-1alpha/PKM2 axis in glioblastoma cells.", "journal": "Oncotarget", "date": "2016", "authors": "de Wit RH, Mujic-Delic A, van Senten JR, Fraile-Ramos A, Siderius M, Smit MJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27602585", "url": "https://glygen.org/publication/PubMed/27602585" } ] }, { "title": "Rig-G is a growth inhibitory factor of lung cancer cells that suppresses STAT3 and NF-kappaB.", "journal": "Oncotarget", "date": "2016", "authors": "Li D, Sun J, Liu W, Wang X, Bals R, Wu J, Quan W, Yao Y, Zhang Y, Zhou H, Wu K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27602766", "url": "https://glygen.org/publication/PubMed/27602766" } ] }, { "title": "Heat Stress-Induced PI3K/mTORC2-Dependent AKT Signaling Is a Central Mediator of Hepatocellular Carcinoma Survival to Thermal Ablation Induced Heat Stress.", "journal": "PloS one", "date": "2016", "authors": "Thompson Scott M, Callstrom Matthew R, Jondal Danielle E, Butters Kim A, Knudsen Bruce E, Anderson Jill L, Lien Karen R, Sutor Shari L, Lee Ju-Seog, Thorgeirsson Snorri S, Grande Joseph P, Roberts Lewis R, Woodrum David A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27611696", "url": "https://glygen.org/publication/PubMed/27611696" } ] }, { "title": "Expression/activation of \u03b15\u03b21 integrin is linked to the \u03b2-catenin signaling pathway to drive migration in glioma cells.", "journal": "Oncotarget", "date": "2016-09-20", "authors": "Renner Guillaume, Noulet Fanny, Mercier Marie-C\u00e9cile, Choulier Laurence, Etienne-Selloum Nelly, Gies Jean-Pierre, Lehmann Maxime, Lelong-Rebel Isabelle, Martin Sophie, Dontenwill Monique", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27613837", "url": "https://glygen.org/publication/PubMed/27613837" } ] }, { "title": "Benzylglucosinolate Derived Isothiocyanate from Tropaeolum majus Reduces Gluconeogenic Gene and Protein Expression in Human Cells.", "journal": "PloS one", "date": "2016", "authors": "Guzman-Perez V, Bumke-Vogt C, Schreiner M, Mewis I, Borchert A, Pfeiffer AF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27622707", "url": "https://glygen.org/publication/PubMed/27622707" } ] }, { "title": "Regulation of Lipolysis and Adipose Tissue Signaling during Acute Endotoxin-Induced Inflammation: A Human Randomized Crossover Trial.", "journal": "PloS one", "date": "2016", "authors": "Rittig Nikolaj, Bach Ermina, Thomsen Henrik Holm, Pedersen Steen B\u00f8nlykke, Nielsen Thomas Sava, J\u00f8rgensen Jens O, Jessen Niels, M\u00f8ller Niels", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27627109", "url": "https://glygen.org/publication/PubMed/27627109" } ] }, { "title": "Up-Regulated Expression of LAMP2 and Autophagy Activity during Neuroendocrine Differentiation of Prostate Cancer LNCaP Cells.", "journal": "PloS one", "date": "2016", "authors": "Morell C, Bort A, Vara-Ciruelos D, Ramos-Torres A, Altamirano-Dimas M, Diaz-Laviada I, Rodriguez-Henche N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27627761", "url": "https://glygen.org/publication/PubMed/27627761" } ] }, { "title": "Blocking downstream signaling pathways in the context of HDAC inhibition promotes apoptosis preferentially in cells harboring mutant Ras.", "journal": "Oncotarget", "date": "2016", "authors": "Bahr JC, Robey RW, Luchenko V, Basseville A, Chakraborty AR, Kozlowski H, Pauly GT, Patel P, Schneider JP, Gottesman MM, Bates SE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27634878", "url": "https://glygen.org/publication/PubMed/27634878" } ] }, { "title": "CDK1-PDK1-PI3K/Akt signaling pathway regulates embryonic and induced pluripotency.", "journal": "Cell death and differentiation", "date": "2017", "authors": "Wang XQ, Lo CM, Chen L, Ngan ES, Xu A, Poon RY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27636107", "url": "https://glygen.org/publication/PubMed/27636107" } ] }, { "title": "The Novel Small Molecule Inhibitor, OSU-T315, Suppresses Vestibular Schwannoma and Meningioma Growth by Inhibiting PDK2 Function in the AKT Pathway Activation.", "journal": "Austin journal of medical oncology", "date": "2016", "authors": "Mercado-Pimentel ME, Igarashi S, Dunn AM, Behbahani M, Miller C, Read CM, Jacob A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27642646", "url": "https://glygen.org/publication/PubMed/27642646" } ] }, { "title": "Exosomes/tricalcium phosphate combination scaffolds can enhance bone regeneration by activating the PI3K/Akt signaling pathway.", "journal": "Stem cell research & therapy", "date": "2016-09-20", "authors": "Zhang Jieyuan, Liu Xiaolin, Li Haiyan, Chen Chunyuan, Hu Bin, Niu Xin, Li Qing, Zhao Bizeng, Xie Zongping, Wang Yang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27650895", "url": "https://glygen.org/publication/PubMed/27650895" } ] }, { "title": "P2Y2 receptor modulates shear stress-induced cell alignment and actin stress fibers in human umbilical vein endothelial cells.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2017-02", "authors": "Sathanoori Ramasri, Bryl-Gorecka Paulina, M\u00fcller Christa E, Erb Laurie, Weisman Gary A, Olde Bj\u00f6rn, Erlinge David", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27652381", "url": "https://glygen.org/publication/PubMed/27652381" } ] }, { "title": "Bicyclol induces cell cycle arrest and autophagy in HepG2 human hepatocellular carcinoma cells through the PI3K/AKT and Ras/Raf/MEK/ERK pathways.", "journal": "BMC cancer", "date": "2016", "authors": "Wang Y, Nie H, Zhao X, Qin Y, Gong X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27654866", "url": "https://glygen.org/publication/PubMed/27654866" } ] }, { "title": "Thioredoxin Binding Protein-2 Regulates Autophagy of Human Lens Epithelial Cells under Oxidative Stress via Inhibition of Akt Phosphorylation.", "journal": "Oxidative medicine and cellular longevity", "date": "2016", "authors": "Zhou J, Yao K, Zhang Y, Chen G, Lai K, Yin H, Yu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27656263", "url": "https://glygen.org/publication/PubMed/27656263" } ] }, { "title": "Neurogenin 3 is regulated by neurotrophic tyrosine kinase receptor type 2 (TRKB) signaling in the adult human exocrine pancreas.", "journal": "Cell communication and signaling : CCS", "date": "2016", "authors": "Shamblott MJ, O'Driscoll ML, Gomez DL, McGuire DL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27659207", "url": "https://glygen.org/publication/PubMed/27659207" } ] }, { "title": "Geridonin and paclitaxel act synergistically to inhibit the proliferation of gastric cancer cells through ROS-mediated regulation of the PTEN/PI3K/Akt pathway.", "journal": "Oncotarget", "date": "2016", "authors": "Wang SQ, Wang C, Chang LM, Zhou KR, Wang JW, Ke Y, Yang DX, Shi HG, Wang R, Shi XL, Ma LY, Liu HM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27659528", "url": "https://glygen.org/publication/PubMed/27659528" } ] }, { "title": "Acquired resistance to venetoclax (ABT-199) in t(14;18) positive lymphoma cells.", "journal": "Oncotarget", "date": "2016", "authors": "Bodo J, Zhao X, Durkin L, Souers AJ, Phillips DC, Smith MR, Hsi ED", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27661108", "url": "https://glygen.org/publication/PubMed/27661108" } ] }, { "title": "Interplay between cell cycle and autophagy induced by boswellic acid analog.", "journal": "Scientific reports", "date": "2016", "authors": "Pathania AS, Guru SK, Kumar S, Kumar A, Ahmad M, Bhushan S, Sharma PR, Mahajan P, Shah BA, Sharma S, Nargotra A, Vishwakarma R, Korkaya H, Malik F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27680387", "url": "https://glygen.org/publication/PubMed/27680387" } ] }, { "title": "The miR-367-3p Increases Sorafenib Chemotherapy Efficacy to Suppress Hepatocellular Carcinoma Metastasis through Altering the Androgen Receptor Signals.", "journal": "EBioMedicine", "date": "2016-10", "authors": "Xu Junjie, Lin Hui, Li Gonghui, Sun Yin, Chen Jiang, Shi Liang, Cai Xiujun, Chang Chawnshang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27688096", "url": "https://glygen.org/publication/PubMed/27688096" } ] }, { "title": "Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.", "journal": "Nature genetics", "date": "2016", "authors": "Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A, Moise M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischke P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27694961", "url": "https://glygen.org/publication/PubMed/27694961" } ] }, { "title": "Glycine triggers a non-ionotropic activity of GluN2A-containing NMDA receptors to confer neuroprotection.", "journal": "Scientific reports", "date": "2016", "authors": "Hu R, Chen J, Lujan B, Lei R, Zhang M, Wang Z, Liao M, Li Z, Wan Y, Liu F, Feng H, Wan Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27694970", "url": "https://glygen.org/publication/PubMed/27694970" } ] }, { "title": "TGF-beta-induced phosphorylation of Akt and Foxo transcription factors negatively regulates induced regulatory T cell differentiation.", "journal": "Biochemical and biophysical research communications", "date": "2016", "authors": "Kurebayashi Y, Baba Y, Minowa A, Nadya NA, Azuma M, Yoshimura A, Koyasu S, Nagai S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27697523", "url": "https://glygen.org/publication/PubMed/27697523" } ] }, { "title": "Aldo-keto reductase 1C1 induced by interleukin-1beta mediates the invasive potential and drug resistance of metastatic bladder cancer cells.", "journal": "Scientific reports", "date": "2016", "authors": "Matsumoto R, Tsuda M, Yoshida K, Tanino M, Kimura T, Nishihara H, Abe T, Shinohara N, Nonomura K, Tanaka S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27698389", "url": "https://glygen.org/publication/PubMed/27698389" } ] }, { "title": "Myo-Inositol Safety in Pregnancy: From Preimplantation Development to Newborn Animals.", "journal": "International journal of endocrinology", "date": "2016", "authors": "Ku\u015fcu Nilay, Bizzarri Mariano, Bevilacqua Arturo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27698667", "url": "https://glygen.org/publication/PubMed/27698667" } ] }, { "title": "Distinct Cell Stress Responses Induced by ATP Restriction in Quiescent Human Fibroblasts.", "journal": "Frontiers in genetics", "date": "2016", "authors": "Yalamanchili Nirupama, Kriete Andres, Alfego David, Danowski Kelli M, Kari Csaba, Rodeck Ulrich", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27757122", "url": "https://glygen.org/publication/PubMed/27757122" } ] }, { "title": "AKT/GSK3beta signaling pathway is critically involved in human pluripotent stem cell survival.", "journal": "Scientific reports", "date": "2016", "authors": "Romorini L, Garate X, Neiman G, Luzzani C, Furmento VA, Guberman AS, Sevlever GE, Scassa ME, Miriuka SG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27762303", "url": "https://glygen.org/publication/PubMed/27762303" } ] }, { "title": "Human Serum Albumin (HSA) Suppresses the Effects of Glycerol Monolaurate (GML) on Human T Cell Activation and Function.", "journal": "PloS one", "date": "2016", "authors": "Zhang Michael S, Houtman Jon C D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27764189", "url": "https://glygen.org/publication/PubMed/27764189" } ] }, { "title": "Heregulin-expressing HER2-positive breast and gastric cancer exhibited heterogeneous susceptibility to the anti-HER2 agents lapatinib, trastuzumab and T-DM1.", "journal": "Oncotarget", "date": "2016", "authors": "Nonagase Y, Yonesaka K, Kawakami H, Watanabe S, Haratani K, Takahama T, Takegawa N, Ueda H, Tanizaki J, Hayashi H, Yoshida T, Takeda M, Chiba Y, Tamura T, Nakagawa K, Tsurutani J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27768588", "url": "https://glygen.org/publication/PubMed/27768588" } ] }, { "title": "Non-immunosuppressive triazole-based small molecule induces anticancer activity against human hormone-refractory prostate cancers: the role in inhibition of PI3K/AKT/mTOR and c-Myc signaling pathways.", "journal": "Oncotarget", "date": "2016", "authors": "Leu WJ, Swain ShP, Chan SH, Hsu JL, Liu SP, Chan ML, Yu CC, Hsu LC, Chou YL, Chang WL, Hou DR, Guh JH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27769069", "url": "https://glygen.org/publication/PubMed/27769069" } ] }, { "title": "Improving nelarabine efficacy in T cell acute lymphoblastic leukemia by targeting aberrant PI3K/AKT/mTOR signaling pathway.", "journal": "Journal of hematology & oncology", "date": "2016", "authors": "Lonetti A, Cappellini A, Bertaina A, Locatelli F, Pession A, Buontempo F, Evangelisti C, Evangelisti C, Orsini E, Zambonin L, Neri LM, Martelli AM, Chiarini F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27776559", "url": "https://glygen.org/publication/PubMed/27776559" } ] }, { "title": "Protein kinase C phosphorylates AMP-activated protein kinase alpha1 Ser487.", "journal": "The Biochemical journal", "date": "2016", "authors": "Heathcote HR, Mancini SJ, Strembitska A, Jamal K, Reihill JA, Palmer TM, Gould GW, Salt IP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27784766", "url": "https://glygen.org/publication/PubMed/27784766" } ] }, { "title": "Fifteen days of 3,200 m simulated hypoxia marginally regulates markers for protein synthesis and degradation in human skeletal muscle.", "journal": "Hypoxia (Auckland, N.Z.)", "date": "2016", "authors": "D'Hulst G, Ferri A, Naslain D, Bertrand L, Horman S, Francaux M, Bishop DJ, Deldicque L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27800505", "url": "https://glygen.org/publication/PubMed/27800505" } ] }, { "title": "Salt-inducible kinase 2 and -3 are downregulated in adipose tissue from obese or insulin-resistant individuals: implications for insulin signalling and glucose uptake in human adipocytes.", "journal": "Diabetologia", "date": "2017", "authors": "Sall J, Pettersson AM, Bjork C, Henriksson E, Wasserstrom S, Linder W, Zhou Y, Hansson O, Andersson DP, Ekelund M, Degerman E, Stenkula KG, Laurencikiene J, Goransson O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27807598", "url": "https://glygen.org/publication/PubMed/27807598" } ] }, { "title": "A novel crosstalk between CCAR2 and AKT pathway in the regulation of cancer cell proliferation.", "journal": "Cell death & disease", "date": "2016", "authors": "Restelli M, Magni M, Ruscica V, Pinciroli P, De Cecco L, Buscemi G, Delia D, Zannini L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27809307", "url": "https://glygen.org/publication/PubMed/27809307" } ] }, { "title": "MicroRNA-222-3p/GNAI2/AKT axis inhibits epithelial ovarian cancer cell growth and associates with good overall survival.", "journal": "Oncotarget", "date": "2016", "authors": "Fu X, Li Y, Alvero A, Li J, Wu Q, Xiao Q, Peng Y, Hu Y, Li X, Yan W, Guo K, Zhou W, Wang Y, Liu J, Zhang Y, Mor G, Wen J, Yin G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27811362", "url": "https://glygen.org/publication/PubMed/27811362" } ] }, { "title": "PTEN dephosphorylates AKT to prevent the expression of GLUT1 on plasmamembrane and to limit glucose consumption in cancer cells.", "journal": "Oncotarget", "date": "2016", "authors": "Phadngam S, Castiglioni A, Ferraresi A, Morani F, Follo C, Isidoro C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27829222", "url": "https://glygen.org/publication/PubMed/27829222" } ] }, { "title": "SAR study of 5-alkynyl substituted quinazolin-4(3H)-ones as phosphoinositide 3-kinase delta (PI3Kdelta) inhibitors.", "journal": "European journal of medicinal chemistry", "date": "2017", "authors": "Wei M, Zhang X, Wang X, Song Z, Ding J, Meng LH, Zhang A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27846451", "url": "https://glygen.org/publication/PubMed/27846451" } ] }, { "title": "Intrinsic cellular signaling mechanisms determine the sensitivity of cancer cells to virus-induced apoptosis.", "journal": "Scientific reports", "date": "2016-11-16", "authors": "Wang Yunfei, Li Dawei, Luo Jian, Tian Guimei, Zhao Lisa Y, Liao Daiqing", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27849011", "url": "https://glygen.org/publication/PubMed/27849011" } ] }, { "title": "The synthetic antimicrobial peptide 19-2.5 attenuates septic cardiomyopathy and prevents down-regulation of SERCA2 in polymicrobial sepsis.", "journal": "Scientific reports", "date": "2016-11-17", "authors": "Martin Lukas, Horst Klemens, Chiazza Fausto, Oggero Silvia, Collino Massimo, Brandenburg Klaus, Hildebrand Frank, Marx Gernot, Thiemermann Christoph, Schuerholz Tobias", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27853260", "url": "https://glygen.org/publication/PubMed/27853260" } ] }, { "title": "STC2 promotes head and neck squamous cell carcinoma metastasis through modulating the PI3K/AKT/Snail signaling.", "journal": "Oncotarget", "date": "2017", "authors": "Yang S, Ji Q, Chang B, Wang Y, Zhu Y, Li D, Huang C, Wang Y, Sun G, Zhang L, Guan Q, Xiang J, Wei W, Lu Z, Liao T, Meng J, Wang Z, Ma B, Zhou L, Wang Y, Yang G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27863406", "url": "https://glygen.org/publication/PubMed/27863406" } ] }, { "title": "NSCA-1-a novel N-substituted coumalamide derivative-increases Adriamycin sensitivity in HepG2/adriamycin cells through modulating Akt/GSK-3beta signaling and p53-dependant apoptotic pathway.", "journal": "Environmental toxicology and pharmacology", "date": "2017", "authors": "Fan Y, Liu J, Liu D, Zhou Z, Bao Y, Wang J, Zhao Q, Xu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27866093", "url": "https://glygen.org/publication/PubMed/27866093" } ] }, { "title": "Targeting protein kinase CK2 suppresses bladder cancer cell survival via the glucose metabolic pathway.", "journal": "Oncotarget", "date": "2016-12-27", "authors": "Zhang Xiaolei, Yang Xiao, Yang Chengdi, Li Peng, Yuan Wenbo, Deng Xiaheng, Cheng Yidong, Li Pengchao, Yang Haiwei, Tao Jun, Lu Qiang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27888634", "url": "https://glygen.org/publication/PubMed/27888634" } ] }, { "title": "Gremlin promotes retinal pigmentation epithelial (RPE) cell proliferation, migration and VEGF production via activating VEGFR2-Akt-mTORC2 signaling.", "journal": "Oncotarget", "date": "2017", "authors": "Liu Y, Chen Z, Cheng H, Chen J, Qian J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27894090", "url": "https://glygen.org/publication/PubMed/27894090" } ] }, { "title": "PPARgamma agonists negatively regulate alphaIIbbeta3 integrin outside-in signaling and platelet function through up-regulation of protein kinase A activity.", "journal": "Journal of thrombosis and haemostasis : JTH", "date": "2017", "authors": "Unsworth AJ, Kriek N, Bye AP, Naran K, Sage T, Flora GD, Gibbins JM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27896950", "url": "https://glygen.org/publication/PubMed/27896950" } ] }, { "title": "PBX3 promotes gastric cancer invasion and metastasis by inducing epithelial-mesenchymal transition.", "journal": "Oncology letters", "date": "2016-11", "authors": "Wang Shuanhu, Li Chenglong, Wang Wenbin, Xing Chungen", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27900025", "url": "https://glygen.org/publication/PubMed/27900025" } ] }, { "title": "Optogenetic clustering of CNK1 reveals mechanistic insights in RAF and AKT signalling controlling cell fate decisions.", "journal": "Scientific reports", "date": "2016", "authors": "Fischer A, Warscheid B, Weber W, Radziwill G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27901111", "url": "https://glygen.org/publication/PubMed/27901111" } ] }, { "title": "CCDC88A, a prognostic factor for human pancreatic cancers, promotes the motility and invasiveness of pancreatic cancer cells.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2016", "authors": "Tanouchi A, Taniuchi K, Furihata M, Naganuma S, Dabanaka K, Kimura M, Watanabe R, Kohsaki T, Shimizu T, Saito M, Hanazaki K, Saibara T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27919290", "url": "https://glygen.org/publication/PubMed/27919290" } ] }, { "title": "miR-21 Is Overexpressed in Hydatidiform Mole Tissues and Promotes Proliferation, Migration, and Invasion in Choriocarcinoma Cells.", "journal": "International journal of gynecological cancer : official journal of the International Gynecological Cancer Society", "date": "2017", "authors": "Wang YX, Zhao JR, Xu YY, Wu WB, Zhang HJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27922982", "url": "https://glygen.org/publication/PubMed/27922982" } ] }, { "title": "Targeting LOXL2 for cardiac interstitial fibrosis and heart failure treatment.", "journal": "Nature communications", "date": "2016", "authors": "Yang J, Savvatis K, Kang JS, Fan P, Zhong H, Schwartz K, Barry V, Mikels-Vigdal A, Karpinski S, Kornyeyev D, Adamkewicz J, Feng X, Zhou Q, Shang C, Kumar P, Phan D, Kasner M, Lopez B, Diez J, Wright KC, Kovacs RL, Chen PS, Quertermous T, Smith V, Yao L, Tschope C, Chang CP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27966531", "url": "https://glygen.org/publication/PubMed/27966531" } ] }, { "title": "Sp1-mediated transcriptional activation of miR-205 promotes radioresistance in esophageal squamous cell carcinoma.", "journal": "Oncotarget", "date": "2017", "authors": "Pan F, Mao H, Bu F, Tong X, Li J, Zhang S, Liu X, Wang L, Wu L, Chen R, Wei H, Li B, Li C, Yang Y, Steer CJ, Zhao J, Guo Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27974696", "url": "https://glygen.org/publication/PubMed/27974696" } ] }, { "title": "micorRNA-101 silences DNA-PKcs and sensitizes pancreatic cancer cells to gemcitabine.", "journal": "Biochemical and biophysical research communications", "date": "2017", "authors": "Hu H, He Y, Wang Y, Chen W, Hu B, Gu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27988337", "url": "https://glygen.org/publication/PubMed/27988337" } ] }, { "title": "Impaired Akt Phosphorylation in Monocytes of Patients with Rheumatoid Arthritis.", "journal": "Scandinavian journal of immunology", "date": "2017", "authors": "Kuuliala K, Kuuliala A, Hamalainen M, Koivuniemi R, Kautiainen H, Moilanen E, Repo H, Leirisalo-Repo M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27992958", "url": "https://glygen.org/publication/PubMed/27992958" } ] }, { "title": "Dual inhibition of the PI3K/AKT/mTOR pathway suppresses the growth of leiomyosarcomas but leads to ERK activation through mTORC2: biological and clinical implications.", "journal": "Oncotarget", "date": "2017", "authors": "Fourneaux B, Chaire V, Lucchesi C, Karanian M, Pineau R, Laroche-Clary A, Italiano A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28002802", "url": "https://glygen.org/publication/PubMed/28002802" } ] }, { "title": "The RAS-related GTPase RHOB confers resistance to EGFR-tyrosine kinase inhibitors in non-small-cell lung cancer via an AKT-dependent mechanism.", "journal": "EMBO molecular medicine", "date": "2017", "authors": "Calvayrac O, Mazieres J, Figarol S, Marty-Detraves C, Raymond-Letron I, Bousquet E, Farella M, Clermont-Taranchon E, Milia J, Rouquette I, Guibert N, Lusque A, Cadranel J, Mathiot N, Savina A, Pradines A, Favre G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28003335", "url": "https://glygen.org/publication/PubMed/28003335" } ] }, { "title": "PTEN mediates the cross talk between breast and glial cells in brain metastases leading to rapid disease progression.", "journal": "Oncotarget", "date": "2017", "authors": "Hohensee I, Chuang HN, Grottke A, Werner S, Schulte A, Horn S, Lamszus K, Bartkowiak K, Witzel I, Westphal M, Matschke J, Glatzel M, Jucker M, Pukrop T, Pantel K, Wikman H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28008153", "url": "https://glygen.org/publication/PubMed/28008153" } ] }, { "title": "Combination treatment of prostate cancer with FGF receptor and AKT kinase inhibitors.", "journal": "Oncotarget", "date": "2017", "authors": "Feng S, Shao L, Castro P, Coleman I, Nelson PS, Smith PD, Davies BR, Ittmann M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28008155", "url": "https://glygen.org/publication/PubMed/28008155" } ] }, { "title": "Adrenoceptors promote glucose uptake into adipocytes and muscle by an insulin-independent signaling pathway involving mechanistic target of rapamycin complex 2.", "journal": "Pharmacological research", "date": "2017-02", "authors": "Mukaida Saori, Evans Bronwyn A, Bengtsson Tore, Hutchinson Dana S, Sato Masaaki", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28025104", "url": "https://glygen.org/publication/PubMed/28025104" } ] }, { "title": "Positive feedback loop of IL-1beta/Akt/RARalpha/Akt signaling mediates oncogenic property of RARalpha in gastric carcinoma.", "journal": "Oncotarget", "date": "2017", "authors": "Ren HY, Liu F, Huang GL, Liu Y, Shen JX, Zhou P, Liu WM, Shen DY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28035062", "url": "https://glygen.org/publication/PubMed/28035062" } ] }, { "title": "Reprogramming antitumor immunity against chemoresistant ovarian cancer by a CXCR4 antagonist-armed viral oncotherapy.", "journal": "Molecular therapy oncolytics", "date": "2016", "authors": "Komorowski MP, McGray AR, Kolakowska A, Eng K, Gil M, Opyrchal M, Litwinska B, Nemeth MJ, Odunsi KO, Kozbor D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28035333", "url": "https://glygen.org/publication/PubMed/28035333" } ] }, { "title": "The RNA-binding protein ESRP1 promotes human colorectal cancer progression.", "journal": "Oncotarget", "date": "2017", "authors": "Fagoonee S, Picco G, Orso F, Arrigoni A, Longo DL, Forni M, Scarfo I, Cassenti A, Piva R, Cassoni P, Silengo L, Tolosano E, Aime S, Taverna D, Pandolfi PP, Brancaccio M, Medico E, Altruda F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28052020", "url": "https://glygen.org/publication/PubMed/28052020" } ] }, { "title": "PGE2 promotes breast cancer-associated lymphangiogenesis by activation of EP4 receptor on lymphatic endothelial cells.", "journal": "BMC cancer", "date": "2017-01-05", "authors": "Nandi Pinki, Girish Gannareddy V, Majumder Mousumi, Xin Xiping, Tutunea-Fatan Elena, Lala Peeyush K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28056899", "url": "https://glygen.org/publication/PubMed/28056899" } ] }, { "title": "Phospho-Akt overexpression is prognostic and can be used to tailor the synergistic interaction of Akt inhibitors with gemcitabine in pancreatic cancer.", "journal": "Journal of hematology & oncology", "date": "2017", "authors": "Massihnia D, Avan A, Funel N, Maftouh M, van Krieken A, Granchi C, Raktoe R, Boggi U, Aicher B, Minutolo F, Russo A, Leon LG, Peters GJ, Giovannetti E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28061880", "url": "https://glygen.org/publication/PubMed/28061880" } ] }, { "title": "Oleanolic acid ameliorates high glucose-induced endothelial dysfunction via PPAR\u03b4 activation.", "journal": "Scientific reports", "date": "2017-01-09", "authors": "Zhang Zihui, Jiang Manli, Xie Xinya, Yang Haixia, Wang Xinfeng, Xiao Lei, Wang Nanping", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28067284", "url": "https://glygen.org/publication/PubMed/28067284" } ] }, { "title": "SDF-1alpha/CXCR4 Signaling in Lipid Rafts Induces Platelet Aggregation via PI3 Kinase-Dependent Akt Phosphorylation.", "journal": "PloS one", "date": "2017", "authors": "Ohtsuka H, Iguchi T, Hayashi M, Kaneda M, Iida K, Shimonaka M, Hara T, Arai M, Koike Y, Yamamoto N, Kasahara K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28072855", "url": "https://glygen.org/publication/PubMed/28072855" } ] }, { "title": "Modulation of long-term endothelial-barrier integrity is conditional to the cross-talk between Akt and Src signaling.", "journal": "Journal of cellular physiology", "date": "2017-10", "authors": "Gao Fei, Sabbineni Harika, Artham Sandeep, Somanath Payaningal R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28075016", "url": "https://glygen.org/publication/PubMed/28075016" } ] }, { "title": "Poly(C)-binding protein 1 mediates drug resistance in colorectal cancer.", "journal": "Oncotarget", "date": "2017-02-21", "authors": "Guo Jiani, Zhu Changli, Yang Kangqun, Li Jin, Du Nan, Zong Mingzhu, Zhou Jianwei, He Jingdong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28076324", "url": "https://glygen.org/publication/PubMed/28076324" } ] }, { "title": "Inhibition of Akt phosphorylation attenuates resistance to TNF-alpha cytotoxic effects in MCF-7 cells, but not in their doxorubicin resistant derivatives.", "journal": "Iranian journal of basic medical sciences", "date": "2016", "authors": "Ghandadi M, Mohammadi A, Behravan J, Abnous K, Haj-Ali N, Gharaee ME, Mosaffa F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28096970", "url": "https://glygen.org/publication/PubMed/28096970" } ] }, { "title": "Cudraflavone C Induces Tumor-Specific Apoptosis in Colorectal Cancer Cells through Inhibition of the Phosphoinositide 3-Kinase (PI3K)-AKT Pathway.", "journal": "PloS one", "date": "2017", "authors": "Soo Hsien-Chuen, Chung Felicia Fei-Lei, Lim Kuan-Hon, Yap Veronica Alicia, Bradshaw Tracey D, Hii Ling-Wei, Tan Si-Hoey, See Sze-Jia, Tan Yuen-Fen, Leong Chee-Onn, Mai Chun-Wai", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28107519", "url": "https://glygen.org/publication/PubMed/28107519" } ] }, { "title": "Involvement of Rictor/mTORC2 in cardiomyocyte differentiation of mouse embryonic stem cells in vitro.", "journal": "International journal of biological sciences", "date": "2017", "authors": "Zheng Bei, Wang Jiadan, Tang Leilei, Tan Chao, Zhao Zhe, Xiao Yi, Ge Renshan, Zhu Danyan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28123351", "url": "https://glygen.org/publication/PubMed/28123351" } ] }, { "title": "Enhanced efficacy of 5-fluorouracil in combination with a dual histone deacetylase and phosphatidylinositide 3-kinase inhibitor (CUDC-907) in colorectal cancer cells.", "journal": "Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association", "date": "2017", "authors": "Hamam Rimi, Ali Dalia, Vishnubalaji Radhakrishnan, Alsaaran Zaid F, Chalisserry Elna Paul, Alfayez Musaad, Aldahmash Abdullah, Alajez Nehad M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28139498", "url": "https://glygen.org/publication/PubMed/28139498" } ] }, { "title": "Localization of mTORC2 activity inside cells.", "journal": "The Journal of cell biology", "date": "2017", "authors": "Ebner M, Sinkovics B, Szczygiel M, Ribeiro DW, Yudushkin I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28143890", "url": "https://glygen.org/publication/PubMed/28143890" } ] }, { "title": "Increase in the radioresistance of normal skin fibroblasts but not tumor cells by mechanical injury.", "journal": "Cell death & disease", "date": "2017", "authors": "Chen Z, Wang X, Jin T, Wang Y, Hong CS, Tan L, Dai T, Wu L, Zhuang Z, Shi C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28151479", "url": "https://glygen.org/publication/PubMed/28151479" } ] }, { "title": "Loss of PFKFB4 induces cell death in mitotically arrested ovarian cancer cells.", "journal": "Oncotarget", "date": "2017", "authors": "Taylor C, Mannion D, Miranda F, Karaminejadranjbar M, Herrero-Gonzalez S, Hellner K, Zheng Y, Bartholomeusz G, Bast RC Jr, Ahmed AA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28152500", "url": "https://glygen.org/publication/PubMed/28152500" } ] }, { "title": "MFN2 suppresses cancer progression through inhibition of mTORC2/Akt signaling.", "journal": "Scientific reports", "date": "2017", "authors": "Xu K, Chen G, Li X, Wu X, Chang Z, Xu J, Zhu Y, Yin P, Liang X, Dong L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28176801", "url": "https://glygen.org/publication/PubMed/28176801" } ] }, { "title": "Thymosin beta 10 is a key regulator of tumorigenesis and metastasis and a novel serum marker in breast cancer.", "journal": "Breast cancer research : BCR", "date": "2017", "authors": "Zhang X, Ren D, Guo L, Wang L, Wu S, Lin C, Ye L, Zhu J, Li J, Song L, Lin H, He Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28179017", "url": "https://glygen.org/publication/PubMed/28179017" } ] }, { "title": "Tetraspanin 8 is a novel regulator of ILK-driven beta1 integrin adhesion and signaling in invasive melanoma cells.", "journal": "Oncotarget", "date": "2017", "authors": "El Kharbili M, Robert C, Witkowski T, Danty-Berger E, Barbollat-Boutrand L, Masse I, Gadot N, de la Fouchardiere A, McDonald PC, Dedhar S, Le Naour F, Degoul F, Berthier-Vergnes O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28188308", "url": "https://glygen.org/publication/PubMed/28188308" } ] }, { "title": "Obesity-Induced Metabolic Stress Leads to Biased Effector Memory CD4+ T Cell Differentiation via PI3K p110\u03b4-Akt-Mediated Signals.", "journal": "Cell metabolism", "date": "2017-03-07", "authors": "Mauro Claudio, Smith Joanne, Cucchi Danilo, Coe David, Fu Hongmei, Bonacina Fabrizia, Baragetti Andrea, Cermenati Gaia, Caruso Donatella, Mitro Nico, Catapano Alberico L, Ammirati Enrico, Longhi Maria P, Okkenhaug Klaus, Norata Giuseppe D, Marelli-Berg Federica M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28190771", "url": "https://glygen.org/publication/PubMed/28190771" } ] }, { "title": "Gypenoside XVII Prevents Atherosclerosis by Attenuating Endothelial Apoptosis and Oxidative Stress: Insight into the ERalpha-Mediated PI3K/Akt Pathway.", "journal": "International journal of molecular sciences", "date": "2017", "authors": "Yang K, Zhang H, Luo Y, Zhang J, Wang M, Liao P, Cao L, Guo P, Sun G, Sun X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28208754", "url": "https://glygen.org/publication/PubMed/28208754" } ] }, { "title": "Loss of NDRG2 Expression Confers Oral Squamous Cell Carcinoma with Enhanced Metastatic Potential.", "journal": "Cancer research", "date": "2017", "authors": "Tamura T, Ichikawa T, Nakahata S, Kondo Y, Tagawa Y, Yamamoto K, Nagai K, Baba T, Yamaguchi R, Futakuchi M, Yamashita Y, Morishita K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28209617", "url": "https://glygen.org/publication/PubMed/28209617" } ] }, { "title": "Novel involvement of RhebL1 in sphingosylphosphorylcholine-induced keratin phosphorylation and reorganization: Binding to and activation of AKT1.", "journal": "Oncotarget", "date": "2017", "authors": "Kim HJ, Byun HJ, Park MK, Kim EJ, Kang GJ, Lee CH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28209923", "url": "https://glygen.org/publication/PubMed/28209923" } ] }, { "title": "High PTEN gene expression is a negative prognostic marker in human primary breast cancers with preserved p53 function.", "journal": "Breast cancer research and treatment", "date": "2017", "authors": "Yndestad S, Austreid E, Knappskog S, Chrisanthar R, Lilleng PK, Lonning PE, Eikesdal HP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28213783", "url": "https://glygen.org/publication/PubMed/28213783" } ] }, { "title": "Feedback Activation of Basic Fibroblast Growth Factor Signaling via the Wnt/beta-Catenin Pathway in Skin Fibroblasts.", "journal": "Frontiers in pharmacology", "date": "2017", "authors": "Wang X, Zhu Y, Sun C, Wang T, Shen Y, Cai W, Sun J, Chi L, Wang H, Song N, Niu C, Shen J, Cong W, Zhu Z, Xuan Y, Li X, Jin L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28217097", "url": "https://glygen.org/publication/PubMed/28217097" } ] }, { "title": "The LINK-A lncRNA interacts with PtdIns(3,4,5)P3 to hyperactivate AKT and confer resistance to AKT inhibitors.", "journal": "Nature cell biology", "date": "2017", "authors": "Lin A, Hu Q, Li C, Xing Z, Ma G, Wang C, Li J, Ye Y, Yao J, Liang K, Wang S, Park PK, Marks JR, Zhou Y, Zhou J, Hung MC, Liang H, Hu Z, Shen H, Hawke DH, Han L, Zhou Y, Lin C, Yang L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28218907", "url": "https://glygen.org/publication/PubMed/28218907" } ] }, { "title": "Osteosarcoma cell proliferation and survival requires mGluR5 receptor activity and is blocked by Riluzole.", "journal": "PloS one", "date": "2017", "authors": "Liao S, Ruiz Y, Gulzar H, Yelskaya Z, Ait Taouit L, Houssou M, Jaikaran T, Schvarts Y, Kozlitina K, Basu-Roy U, Mansukhani A, Mahajan SS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28231291", "url": "https://glygen.org/publication/PubMed/28231291" } ] }, { "title": "Cinchonine induces apoptosis of HeLa and A549 cells through targeting TRAF6.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2017", "authors": "Qi Y, Pradipta AR, Li M, Zhao X, Lu L, Fu X, Wei J, Hsung RP, Tanaka K, Zhou L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28231796", "url": "https://glygen.org/publication/PubMed/28231796" } ] }, { "title": "cAMP signaling increases histone deacetylase 8 expression via the Epac2-Rap1A-Akt pathway in H1299 lung cancer cells.", "journal": "Experimental & molecular medicine", "date": "2017", "authors": "Park JY, Juhnn YS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28232663", "url": "https://glygen.org/publication/PubMed/28232663" } ] }, { "title": "Fatty acid synthase regulates estrogen receptor-\u03b1 signaling in breast cancer cells.", "journal": "Oncogenesis", "date": "2017-02-27", "authors": "Menendez J A, Lupu R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28240737", "url": "https://glygen.org/publication/PubMed/28240737" } ] }, { "title": "Undercarboxylated osteocalcin reverts insulin resistance induced by endoplasmic reticulum stress in human umbilical vein endothelial cells.", "journal": "Scientific reports", "date": "2017", "authors": "Guo Q, Li H, Xu L, Wu S, Sun H, Zhou B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28246389", "url": "https://glygen.org/publication/PubMed/28246389" } ] }, { "title": "Function of miR-152 as a Tumor Suppressor in Human Breast Cancer by Targeting PIK3CA.", "journal": "Oncology research", "date": "2017", "authors": "Ge S, Wang D, Kong Q, Gao W, Sun J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28247844", "url": "https://glygen.org/publication/PubMed/28247844" } ] }, { "title": "A dangerous liaison: Leptin and sPLA2-IIA join forces to induce proliferation and migration of astrocytoma cells.", "journal": "PloS one", "date": "2017", "authors": "Martin R, Cordova C, Gutierrez B, Hernandez M, Nieto ML", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28249041", "url": "https://glygen.org/publication/PubMed/28249041" } ] }, { "title": "Promotion Effects of miR-375 on the Osteogenic Differentiation of Human Adipose-Derived Mesenchymal Stem Cells.", "journal": "Stem cell reports", "date": "2017-03-14", "authors": "Chen Si, Zheng Yunfei, Zhang Shan, Jia Lingfei, Zhou Yongsheng", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28262546", "url": "https://glygen.org/publication/PubMed/28262546" } ] }, { "title": "TRIB2 confers resistance to anti-cancer therapy by activating the serine/threonine protein kinase AKT.", "journal": "Nature communications", "date": "2017", "authors": "Hill R, Madureira PA, Ferreira B, Baptista I, Machado S, Colaco L, Dos Santos M, Liu N, Dopazo A, Ugurel S, Adrienn A, Kiss-Toth E, Isbilen M, Gure AO, Link W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28276427", "url": "https://glygen.org/publication/PubMed/28276427" } ] }, { "title": "Homocysteine ameliorates the endothelium-independent hypoxic vasoconstriction via the suppression of phosphatidylinositol 3-kinase/Akt pathway in porcine coronary arteries.", "journal": "Biochemical and biophysical research communications", "date": "2017", "authors": "An YM, Feng H, Zhang XZ, Cong X, Zhao Q, Wu LL, Dou D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28285136", "url": "https://glygen.org/publication/PubMed/28285136" } ] }, { "title": "PI3Kalpha isoform-dependent activation of RhoA regulates Wnt5a-induced osteosarcoma cell migration.", "journal": "Cancer cell international", "date": "2017", "authors": "Zhang A, Yan T, Wang K, Huang Z, Liu J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28289332", "url": "https://glygen.org/publication/PubMed/28289332" } ] }, { "title": "FUSION-Guided Hypothesis Development Leads to the Identification of N\u2076,N\u2076-Dimethyladenosine, a Marine-Derived AKT Pathway Inhibitor.", "journal": "Marine drugs", "date": "2017-03-15", "authors": "Vaden Rachel M, Oswald Nathaniel W, Potts Malia B, MacMillan John B, White Michael A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28294973", "url": "https://glygen.org/publication/PubMed/28294973" } ] }, { "title": "PAI1: a novel PP1-interacting protein that mediates human plasma's anti-apoptotic effect in endothelial cells.", "journal": "Journal of cellular and molecular medicine", "date": "2017", "authors": "Yao H, He G, Chen C, Yan S, Lu L, Song L, Vijayan KV, Li Q, Xiong L, Miao X, Deng X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28296156", "url": "https://glygen.org/publication/PubMed/28296156" } ] }, { "title": "The metabolic waste ammonium regulates mTORC2 and mTORC1 signaling.", "journal": "Scientific reports", "date": "2017", "authors": "Merhi A, Delree P, Marini AM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28303961", "url": "https://glygen.org/publication/PubMed/28303961" } ] }, { "title": "Silencing of the small GTPase DIRAS3 induces cellular senescence in human white adipose stromal/progenitor cells.", "journal": "Aging", "date": "2017", "authors": "Ejaz A, Mattesich M, Zwerschke W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28316325", "url": "https://glygen.org/publication/PubMed/28316325" } ] }, { "title": "The allosteric AKT inhibitor MK2206 shows a synergistic interaction with chemotherapy and radiotherapy in glioblastoma spheroid cultures.", "journal": "BMC cancer", "date": "2017", "authors": "Narayan RS, Fedrigo CA, Brands E, Dik R, Stalpers LJ, Baumert BG, Slotman BJ, Westerman BA, Peters GJ, Sminia P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28320338", "url": "https://glygen.org/publication/PubMed/28320338" } ] }, { "title": "Effects of miR-145-5p through NRAS on the cell proliferation, apoptosis, migration, and invasion in melanoma by inhibiting MAPK and PI3K/AKT pathways.", "journal": "Cancer medicine", "date": "2017", "authors": "Liu S, Gao G, Yan D, Chen X, Yao X, Guo S, Li G, Zhao Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28332309", "url": "https://glygen.org/publication/PubMed/28332309" } ] }, { "title": "miR-18a counteracts AKT and ERK activation to inhibit the proliferation of pancreatic progenitor cells.", "journal": "Scientific reports", "date": "2017", "authors": "Li X, Zhang Z, Li Y, Zhao Y, Zhai W, Yang L, Kong D, Wu C, Chen Z, Teng CB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28332553", "url": "https://glygen.org/publication/PubMed/28332553" } ] }, { "title": "Akt targeting as a strategy to boost chemotherapy efficacy in non-small cell lung cancer through metabolism suppression.", "journal": "Scientific reports", "date": "2017", "authors": "Le Grand M, Berges R, Pasquier E, Montero MP, Borge L, Carrier A, Vasseur S, Bourgarel V, Buric D, Andre N, Braguer D, Carre M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28332584", "url": "https://glygen.org/publication/PubMed/28332584" } ] }, { "title": "Apigenin-induced lysosomal degradation of beta-catenin in Wnt/beta-catenin signaling.", "journal": "Scientific reports", "date": "2017", "authors": "Lin CM, Chen HH, Lin CA, Wu HC, Sheu JJ, Chen HJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28337019", "url": "https://glygen.org/publication/PubMed/28337019" } ] }, { "title": "Macrophages induce AKT/beta-catenin-dependent Lgr5(+) stem cell activation and hair follicle regeneration through TNF.", "journal": "Nature communications", "date": "2017", "authors": "Wang X, Chen H, Tian R, Zhang Y, Drutskaya MS, Wang C, Ge J, Fan Z, Kong D, Wang X, Cai T, Zhou Y, Wang J, Wang J, Wang S, Qin Z, Jia H, Wu Y, Liu J, Nedospasov SA, Tredget EE, Lin M, Liu J, Jiang Y, Wu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28345588", "url": "https://glygen.org/publication/PubMed/28345588" } ] }, { "title": "Lectin-like oxidized low-density lipoprotein receptor-1 facilitates metastasis of gastric cancer through driving epithelial-mesenchymal transition and PI3K/Akt/GSK3beta activation.", "journal": "Scientific reports", "date": "2017", "authors": "Li C, Zhang J, Wu H, Li L, Yang C, Song S, Peng P, Shao M, Zhang M, Zhao J, Zhao R, Wu W, Ruan Y, Wang L, Gu J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28345638", "url": "https://glygen.org/publication/PubMed/28345638" } ] }, { "title": "Proteogenomic integration reveals therapeutic targets in breast cancer xenografts.", "journal": "Nature communications", "date": "2017", "authors": "Huang KL, Li S, Mertins P, Cao S, Gunawardena HP, Ruggles KV, Mani DR, Clauser KR, Tanioka M, Usary J, Kavuri SM, Xie L, Yoon C, Qiao JW, Wrobel J, Wyczalkowski MA, Erdmann-Gilmore P, Snider JE, Hoog J, Singh P, Niu B, Guo Z, Sun SQ, Sanati S, Kawaler E, Wang X, Scott A, Ye K, McLellan MD, Wendl MC, Malovannaya A, Held JM, Gillette MA, Fenyo D, Kinsinger CR, Mesri M, Rodriguez H, Davies SR, Perou CM, Ma C, Reid Townsend R, Chen X, Carr SA, Ellis MJ, Ding L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28348404", "url": "https://glygen.org/publication/PubMed/28348404" } ] }, { "title": "DEPTOR-mTOR Signaling Is Critical for Lipid Metabolism and Inflammation Homeostasis of Lymphocytes in Human PBMC Culture.", "journal": "Journal of immunology research", "date": "2017", "authors": "Xie QB, Liang Y, Yang M, Yang Y, Cen XM, Yin G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28349073", "url": "https://glygen.org/publication/PubMed/28349073" } ] }, { "title": "Association of HOTAIR expression with PI3K/Akt pathway activation in adenocarcinoma of esophagogastric junction.", "journal": "Open medicine (Warsaw, Poland)", "date": "2016", "authors": "Hui Z, Xianglin M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28352764", "url": "https://glygen.org/publication/PubMed/28352764" } ] }, { "title": "Aspirin enhances the cytotoxic activity of bortezomib against myeloma cells via suppression of Bcl-2, survivin and phosphorylation of AKT.", "journal": "Oncology letters", "date": "2017", "authors": "Ding JH, Yuan LY, Chen GA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28356941", "url": "https://glygen.org/publication/PubMed/28356941" } ] }, { "title": "Evaluation of pancreatic cancer cell migration with multiple parameters in vitro by using an optical real-time cell mobility assay device.", "journal": "BMC cancer", "date": "2017-03-31", "authors": "Yamauchi Akira, Yamamura Masahiro, Katase Naoki, Itadani Masumi, Okada Naoko, Kobiki Kayoko, Nakamura Masafumi, Yamaguchi Yoshiyuki, Kuribayashi Futoshi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28359316", "url": "https://glygen.org/publication/PubMed/28359316" } ] }, { "title": "Impairment of the Ability of HDL From Patients With Metabolic Syndrome but Without Diabetes Mellitus to Activate eNOS: Correction by S1P Enrichment.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2017", "authors": "Denimal D, Monier S, Brindisi MC, Petit JM, Bouillet B, Nguyen A, Demizieux L, Simoneau I, Pais de Barros JP, Verges B, Duvillard L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28360087", "url": "https://glygen.org/publication/PubMed/28360087" } ] }, { "title": "Reactive Oxygen Species Evoked by Potassium Deprivation and Staurosporine Inactivate Akt and Induce the Expression of TXNIP in Cerebellar Granule Neurons.", "journal": "Oxidative medicine and cellular longevity", "date": "2017", "authors": "Zaragoza-Campillo MA, Moran J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28367274", "url": "https://glygen.org/publication/PubMed/28367274" } ] }, { "title": "Effects of SMYD2-mediated EML4-ALK methylation on the signaling pathway and growth in non-small-cell lung cancer cells.", "journal": "Cancer science", "date": "2017", "authors": "Wang R, Deng X, Yoshioka Y, Vougiouklakis T, Park JH, Suzuki T, Dohmae N, Ueda K, Hamamoto R, Nakamura Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28370702", "url": "https://glygen.org/publication/PubMed/28370702" } ] }, { "title": "Penfluridol suppresses glioblastoma tumor growth by Akt-mediated inhibition of GLI1.", "journal": "Oncotarget", "date": "2017", "authors": "Ranjan A, Srivastava SK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28380428", "url": "https://glygen.org/publication/PubMed/28380428" } ] }, { "title": "Wnt5a and CCL25 promote adult T-cell acute lymphoblastic leukemia cell migration, invasion and metastasis.", "journal": "Oncotarget", "date": "2017", "authors": "Deng X, Tu Z, Xiong M, Tembo K, Zhou L, Liu P, Pan S, Xiong J, Yang X, Leng J, Zhang Q, Xiao R, Zhang Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28380463", "url": "https://glygen.org/publication/PubMed/28380463" } ] }, { "title": "Integration of Receptor Tyrosine Kinases Determines Sensitivity to PI3Kalpha-selective Inhibitors in Breast Cancer.", "journal": "Theranostics", "date": "2017", "authors": "Xu YC, Wang X, Chen Y, Chen SM, Yang XY, Sun YM, Geng MY, Ding J, Meng LH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28382169", "url": "https://glygen.org/publication/PubMed/28382169" } ] }, { "title": "PDK1 inhibitor GSK2334470 exerts antitumor activity in multiple myeloma and forms a novel multitargeted combination with dual mTORC1/C2 inhibitor PP242.", "journal": "Oncotarget", "date": "2017-06-13", "authors": "Yang Chunmei, Huang Xianbo, Liu Hui, Xiao Feng, Wei Jueying, You Liangshun, Qian Wenbin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28402933", "url": "https://glygen.org/publication/PubMed/28402933" } ] }, { "title": "Tumor grade related expression of neuroglobin is negatively regulated by PPARgamma and confers antioxidant activity in glioma progression.", "journal": "Redox biology", "date": "2017", "authors": "Hu J, Cao X, Pang D, Luo Q, Zou Y, Feng B, Li L, Chen Z, Huang C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28410531", "url": "https://glygen.org/publication/PubMed/28410531" } ] }, { "title": "Hyperglycemia via activation of thromboxane A2 receptor impairs the integrity and function of blood-brain barrier in microvascular endothelial cells.", "journal": "Oncotarget", "date": "2017", "authors": "Zhao Z, Hu J, Gao X, Liang H, Yu H, Liu S, Liu Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28415790", "url": "https://glygen.org/publication/PubMed/28415790" } ] }, { "title": "Differential mTOR pathway profiles in bladder cancer cell line subtypes to predict sensitivity to mTOR inhibition.", "journal": "Urologic oncology", "date": "2017", "authors": "Hau AM, Nakasaki M, Nakashima K, Krish G, Hansel DE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28427860", "url": "https://glygen.org/publication/PubMed/28427860" } ] }, { "title": "Clozapine reduces Toll-like receptor 4/NF-kappaB-mediated inflammatory responses through inhibition of calcium/calmodulin-dependent Akt activation in microglia.", "journal": "Progress in neuro-psychopharmacology & biological psychiatry", "date": "2018", "authors": "Jeon S, Kim SH, Shin SY, Lee YH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28431901", "url": "https://glygen.org/publication/PubMed/28431901" } ] }, { "title": "Cigarette smoke extract counteracts atheroprotective effects of high laminar flow on endothelial function.", "journal": "Redox biology", "date": "2017", "authors": "Giebe S, Cockcroft N, Hewitt K, Brux M, Hofmann A, Morawietz H, Brunssen C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28432984", "url": "https://glygen.org/publication/PubMed/28432984" } ] }, { "title": "G-protein-coupled receptor 30 mediates the effects of estrogen on endothelial cell tube formation in vitro.", "journal": "International journal of molecular medicine", "date": "2017", "authors": "Zhou L, Chen H, Mao X, Qi H, Baker PN, Zhang H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28440394", "url": "https://glygen.org/publication/PubMed/28440394" } ] }, { "title": "MicroRNA-182 Regulates Neurite Outgrowth Involving the PTEN/AKT Pathway.", "journal": "Frontiers in cellular neuroscience", "date": "2017", "authors": "Wang WM, Lu G, Su XW, Lyu H, Poon WS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28442995", "url": "https://glygen.org/publication/PubMed/28442995" } ] }, { "title": "Trefoil factor 3 mediation of oncogenicity and chemoresistance in hepatocellular carcinoma is AKT-BCL-2 dependent.", "journal": "Oncotarget", "date": "2017-06-13", "authors": "You Ming-Liang, Chen Yi-Jun, Chong Qing-Yun, Wu Ming-Ming, Pandey Vijay, Chen Ru-Mei, Liu Liang, Ma Lan, Wu Zheng-Sheng, Zhu Tao, Lobie Peter E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28445151", "url": "https://glygen.org/publication/PubMed/28445151" } ] }, { "title": "Antiplatelet Activity of a Newly Synthesized Novel Ruthenium (II): A Potential Role for Akt/JNK Signaling.", "journal": "International journal of molecular sciences", "date": "2017", "authors": "Khamrang T, Hung KC, Hsia CH, Hsieh CY, Velusamy M, Jayakumar T, Sheu JR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28448438", "url": "https://glygen.org/publication/PubMed/28448438" } ] }, { "title": "CCDC106 promotes non-small cell lung cancer cell proliferation.", "journal": "Oncotarget", "date": "2017", "authors": "Zhang X, Zheng Q, Wang C, Zhou H, Jiang G, Miao Y, Zhang Y, Liu Y, Li Q, Qiu X, Wang E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28460455", "url": "https://glygen.org/publication/PubMed/28460455" } ] }, { "title": "Correction of PTEN mutations in glioblastoma cell lines via AAV-mediated gene editing.", "journal": "PloS one", "date": "2017", "authors": "Hill Victoria K, Kim Jung-Sik, James C David, Waldman Todd", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28464039", "url": "https://glygen.org/publication/PubMed/28464039" } ] }, { "title": "EGFR inhibition by (-)-epigallocatechin-3-gallate and IIF treatments reduces breast cancer cell invasion.", "journal": "Bioscience reports", "date": "2017", "authors": "Farabegoli F, Govoni M, Spisni E, Papi A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28465354", "url": "https://glygen.org/publication/PubMed/28465354" } ] }, { "title": "Subcutaneous and Visceral Adipose Tissue Secretions from Extremely Obese Men and Women both Acutely Suppress Muscle Insulin Signaling.", "journal": "International journal of molecular sciences", "date": "2017", "authors": "Sarr O, Strohm RJ, MacDonald TL, Gaudio N, Reed JK, Foute-Nelong J, Dyck DJ, Mutch DM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28468326", "url": "https://glygen.org/publication/PubMed/28468326" } ] }, { "title": "DKK3 Overexpression Increases the Malignant Properties of Head and Neck Squamous Cell Carcinoma Cells.", "journal": "Oncology research", "date": "2018", "authors": "Katase N, Nishimatsu SI, Yamauchi A, Yamamura M, Terada K, Itadani M, Okada N, Hassan NMM, Nagatsuka H, Ikeda T, Nohno T, Fujita S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28470144", "url": "https://glygen.org/publication/PubMed/28470144" } ] }, { "title": "PI3K-Akt-mTOR axis sustains rotavirus infection via the 4E-BP1 mediated autophagy pathway and represents an antiviral target.", "journal": "Virulence", "date": "2018", "authors": "Yin Y, Dang W, Zhou X, Xu L, Wang W, Cao W, Chen S, Su J, Cai X, Xiao S, Peppelenbosch MP, Pan Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28475412", "url": "https://glygen.org/publication/PubMed/28475412" } ] }, { "title": "Activation of Akt characterizes estrogen receptor positive human breast cancers which respond to anthracyclines.", "journal": "Oncotarget", "date": "2017", "authors": "Yndestad S, Austreid E, Svanberg IR, Knappskog S, Lonning PE, Eikesdal HP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28476032", "url": "https://glygen.org/publication/PubMed/28476032" } ] }, { "title": "Inhibition of Human Lung Cancer Cell Proliferation and Survival by Post-Exercise Serum Is Associated with the Inhibition of Akt, mTOR, p70 S6K, and Erk1/2.", "journal": "Cancers", "date": "2017", "authors": "Kurgan N, Tsakiridis E, Kouvelioti R, Moore J, Klentrou P, Tsiani E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28481292", "url": "https://glygen.org/publication/PubMed/28481292" } ] }, { "title": "Role of Akt-independent mTORC1 and GSK3beta signaling in sublethal NMDA-induced injury and the recovery of neuronal electrophysiology and survival.", "journal": "Scientific reports", "date": "2017", "authors": "Swiatkowski P, Nikolaeva I, Kumar G, Zucco A, Akum BF, Patel MV, D'Arcangelo G, Firestein BL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28484273", "url": "https://glygen.org/publication/PubMed/28484273" } ] }, { "title": "CK2 and PI3K are direct molecular targets of quercetin in chronic lymphocytic leukaemia.", "journal": "Oncotarget", "date": "2017", "authors": "Russo M, Milito A, Spagnuolo C, Carbone V, Rosen A, Minasi P, Lauria F, Russo GL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28489572", "url": "https://glygen.org/publication/PubMed/28489572" } ] }, { "title": "MicroRNA-23b functions as an oncogene and activates AKT/GSK3beta/beta-catenin signaling by targeting ST7L in hepatocellular carcinoma.", "journal": "Cell death & disease", "date": "2017", "authors": "Zhuang L, Wang X, Wang Z, Ma X, Han B, Zou H, Wu Z, Dong S, Qu Z, Zang Y, Wu L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28518144", "url": "https://glygen.org/publication/PubMed/28518144" } ] }, { "title": "The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS).", "journal": "Oncotarget", "date": "2017", "authors": "Suzuki Y, Enokido Y, Yamada K, Inaba M, Kuwata K, Hanada N, Morishita T, Mizuno S, Wakamatsu N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28525374", "url": "https://glygen.org/publication/PubMed/28525374" } ] }, { "title": "Signals of vagal circuits engaging with AKT1 in \u03b17 nAChR+CD11b+ cells lessen E. coli and LPS-induced acute inflammatory injury.", "journal": "Cell discovery", "date": "2017", "authors": "Zhao Caiqi, Yang Xi, Su Emily M, Huang Yuanyuan, Li Ling, Matthay Michael A, Su Xiao", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28529765", "url": "https://glygen.org/publication/PubMed/28529765" } ] }, { "title": "Targeting group I p21-activated kinases to control malignant peripheral nerve sheath tumor growth and metastasis.", "journal": "Oncogene", "date": "2017", "authors": "Semenova G, Stepanova DS, Dubyk C, Handorf E, Deyev SM, Lazar AJ, Chernoff J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28534510", "url": "https://glygen.org/publication/PubMed/28534510" } ] }, { "title": "The MTH1 inhibitor TH588 demonstrates anti-tumoral effects alone and in combination with everolimus, 5-FU and gamma-irradiation in neuroendocrine tumor cells.", "journal": "PloS one", "date": "2017", "authors": "Aristizabal Prada Elke Tatjana, Orth Michael, N\u00f6lting Svenja, Sp\u00f6ttl Gerald, Maurer Julian, Auernhammer Christoph", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28542590", "url": "https://glygen.org/publication/PubMed/28542590" } ] }, { "title": "Increased serum level of soluble interleukin-2 receptor is associated with a worse response of metastatic clear cell renal cell carcinoma to interferon alpha and sequential VEGF-targeting therapy.", "journal": "BMC cancer", "date": "2017", "authors": "Nukui A, Masuda A, Abe H, Arai K, Yoshida KI, Kamai T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28545581", "url": "https://glygen.org/publication/PubMed/28545581" } ] }, { "title": "Waldenstrom macroglobulinemia cells devoid of BTK(C481S) or CXCR4(WHIM-like) mutations acquire resistance to ibrutinib through upregulation of Bcl-2 and AKT resulting in vulnerability towards venetoclax or MK2206 treatment.", "journal": "Blood cancer journal", "date": "2017", "authors": "Paulus A, Akhtar S, Yousaf H, Manna A, Paulus SM, Bashir Y, Caulfield TR, Kuranz-Blake M, Chitta K, Wang X, Asmann Y, Hudec R, Springer W, Ailawadhi S, Chanan-Khan A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28548645", "url": "https://glygen.org/publication/PubMed/28548645" } ] }, { "title": "Regulation of PI3K/Akt dependent apoptotic markers during b virus infection of human and macaque fibroblasts.", "journal": "PloS one", "date": "2017", "authors": "Vasireddi M, Hilliard JK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28558072", "url": "https://glygen.org/publication/PubMed/28558072" } ] }, { "title": "Regulation of Osteoclast Growth and Fusion by mTOR/raptor and mTOR/rictor/Akt.", "journal": "Frontiers in cell and developmental biology", "date": "2017", "authors": "Tiedemann Kerstin, Le Nihouannen Damien, Fong Jenna E, Hussein Osama, Barralet Jake E, Komarova Svetlana V", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28573133", "url": "https://glygen.org/publication/PubMed/28573133" } ] }, { "title": "MicroRNA-216a promotes the metastasis and epithelial-mesenchymal transition of ovarian cancer by suppressing the PTEN/AKT pathway.", "journal": "OncoTargets and therapy", "date": "2017", "authors": "Liu H, Pan Y, Han X, Liu J, Li R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28579808", "url": "https://glygen.org/publication/PubMed/28579808" } ] }, { "title": "IL-17A promotes the proliferation of human nasopharyngeal carcinoma cells through p300-mediated Akt1 acetylation.", "journal": "Oncology letters", "date": "2017", "authors": "Cai K, Wang B, Dou H, Luan R, Bao X, Chu J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28588706", "url": "https://glygen.org/publication/PubMed/28588706" } ] }, { "title": "MYO6 Regulates Spatial Organization of Signaling Endosomes Driving AKT Activation and Actin Dynamics.", "journal": "Cell reports", "date": "2017", "authors": "Masters TA, Tumbarello DA, Chibalina MV, Buss F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28591580", "url": "https://glygen.org/publication/PubMed/28591580" } ] }, { "title": "TRPM4 regulates Akt/GSK3-beta activity and enhances beta-catenin signaling and cell proliferation in prostate cancer cells.", "journal": "Molecular oncology", "date": "2018", "authors": "Sagredo AI, Sagredo EA, Cappelli C, Baez P, Andaur RE, Blanco C, Tapia JC, Echeverria C, Cerda O, Stutzin A, Simon F, Marcelain K, Armisen R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28614631", "url": "https://glygen.org/publication/PubMed/28614631" } ] }, { "title": "PD-L1 promotes OCT4 and Nanog expression in breast cancer stem cells by sustaining PI3K/AKT pathway activation.", "journal": "International journal of cancer", "date": "2017", "authors": "Almozyan S, Colak D, Mansour F, Alaiya A, Al-Harazi O, Qattan A, Al-Mohanna F, Al-Alwan M, Ghebeh H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28614911", "url": "https://glygen.org/publication/PubMed/28614911" } ] }, { "title": "The Antiproliferative Effect of Cyclodipeptides from Pseudomonas aeruginosa PAO1 on HeLa Cells Involves Inhibition of Phosphorylation of Akt and S6k Kinases.", "journal": "Molecules (Basel, Switzerland)", "date": "2017", "authors": "Hernandez-Padilla L, Vazquez-Rivera D, Sanchez-Briones LA, Diaz-Perez AL, Moreno-Rodriguez J, Moreno-Eutimio MA, Meza-Carmen V, Cruz HR, Campos-Garcia J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28632179", "url": "https://glygen.org/publication/PubMed/28632179" } ] }, { "title": "MEK inhibitors induce Akt activation and drug resistance by suppressing negative feedback ERK-mediated HER2 phosphorylation at Thr701.", "journal": "Molecular oncology", "date": "2017", "authors": "Chen CH, Hsia TC, Yeh MH, Chen TW, Chen YJ, Chen JT, Wei YL, Tu CY, Huang WC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28632938", "url": "https://glygen.org/publication/PubMed/28632938" } ] }, { "title": "Akt activation by Ca2+/calmodulin-dependent protein kinase kinase 2 (CaMKK2) in ovarian cancer cells.", "journal": "The Journal of biological chemistry", "date": "2017-08-25", "authors": "Gocher Angela M, Azabdaftari Gissou, Euscher Lindsey M, Dai Shuhang, Karacosta Loukia G, Franke Thomas F, Edelman Arthur M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28634229", "url": "https://glygen.org/publication/PubMed/28634229" } ] }, { "title": "LARP1 functions as a molecular switch for mTORC1-mediated translation of an essential class of mRNAs.", "journal": "eLife", "date": "2017", "authors": "Hong S, Freeberg MA, Han T, Kamath A, Yao Y, Fukuda T, Suzuki T, Kim JK, Inoki K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28650797", "url": "https://glygen.org/publication/PubMed/28650797" } ] }, { "title": "Palmitic Acid-BSA enhances Amyloid-beta production through GPR40-mediated dual pathways in neuronal cells: Involvement of the Akt/mTOR/HIF-1alpha and Akt/NF-kappaB pathways.", "journal": "Scientific reports", "date": "2017", "authors": "Kim JY, Lee HJ, Lee SJ, Jung YH, Yoo DY, Hwang IK, Seong JK, Ryu JM, Han HJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28659580", "url": "https://glygen.org/publication/PubMed/28659580" } ] }, { "title": "Anaphylatoxins Activate Ca(2+), Akt/PI3-Kinase, and FOXO1/FoxP3 in the Retinal Pigment Epithelium.", "journal": "Frontiers in immunology", "date": "2017", "authors": "Busch C, Annamalai B, Abdusalamova K, Reichhart N, Huber C, Lin Y, Jo EAH, Zipfel PF, Skerka C, Wildner G, Diedrichs-Mohring M, Rohrer B, Strauss O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28663750", "url": "https://glygen.org/publication/PubMed/28663750" } ] }, { "title": "LIM kinase 1 interacts with myosin-9 and alpha-actinin-4 and promotes colorectal cancer progression.", "journal": "British journal of cancer", "date": "2017-08-08", "authors": "Liao Qing, Li Rui, Zhou Rui, Pan Zhihua, Xu Lijun, Ding Yanqing, Zhao Liang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28664914", "url": "https://glygen.org/publication/PubMed/28664914" } ] }, { "title": "Two distinct mTORC2-dependent pathways converge on Rac1 to drive breast cancer metastasis.", "journal": "Breast cancer research : BCR", "date": "2017", "authors": "Morrison Joly M, Williams MM, Hicks DJ, Jones B, Sanchez V, Young CD, Sarbassov DD, Muller WJ, Brantley-Sieders D, Cook RS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28666462", "url": "https://glygen.org/publication/PubMed/28666462" } ] }, { "title": "Impairment of body mass reduction-associated activation of brown/beige adipose tissue in patients with type 2 diabetes mellitus.", "journal": "International journal of obesity (2005)", "date": "2017", "authors": "Rodovalho S, Rachid B, De-Lima-Junior JC, van de Sande-Lee S, Morari J, Carvalho HM, Amorim BJ, Tincani AJ, Chaim E, Pareja JC, Saad MJ, Folli F, Ramos CD, Geloneze B, Velloso LA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28669988", "url": "https://glygen.org/publication/PubMed/28669988" } ] }, { "title": "Abnormality of Klotho Signaling Is Involved in Polycystic Ovary Syndrome.", "journal": "Reproductive sciences (Thousand Oaks, Calif.)", "date": "2018", "authors": "Mao Z, Fan L, Yu Q, Luo S, Wu X, Tang J, Kang G, Tang L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28673204", "url": "https://glygen.org/publication/PubMed/28673204" } ] }, { "title": "Crizotinib in Combination with Everolimus Synergistically Inhibits Proliferation of Anaplastic Lymphoma KinasePositive Anaplastic Large Cell Lymphoma.", "journal": "Cancer research and treatment", "date": "2018", "authors": "Xu W, Kim JW, Jung WJ, Koh Y, Yoon SS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28675026", "url": "https://glygen.org/publication/PubMed/28675026" } ] }, { "title": "miR-200c Accelerates Hepatic Stellate Cell-Induced Liver Fibrosis via Targeting the FOG2/PI3K Pathway.", "journal": "BioMed research international", "date": "2017", "authors": "Ma Tengfei, Cai Xiuqin, Wang Zifeng, Huang Li, Wang Chang, Jiang Songshan, Hua Yunpeng, Liu Quentin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28691020", "url": "https://glygen.org/publication/PubMed/28691020" } ] }, { "title": "Cooperation between p21 and Akt is required for p53-dependent cellular senescence.", "journal": "Aging cell", "date": "2017", "authors": "Kim YY, Jee HJ, Um JH, Kim YM, Bae SS, Yun J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28691365", "url": "https://glygen.org/publication/PubMed/28691365" } ] }, { "title": "PDK1 plays a vital role on hematopoietic stem cell function.", "journal": "Scientific reports", "date": "2017", "authors": "Hu T, Li C, Wang L, Zhang Y, Peng L, Cheng H, Chu Y, Wang W, Ema H, Gao Y, Ju Z, Yang Z, Wang X, Cheng T, Yuan W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28694518", "url": "https://glygen.org/publication/PubMed/28694518" } ] }, { "title": "Phospholipase Cgamma1 Mediates Intima Formation Through Akt-Notch1 Signaling Independent of the Phospholipase Activity.", "journal": "Journal of the American Heart Association", "date": "2017", "authors": "Jiang D, Zhuang J, Peng W, Lu Y, Liu H, Zhao Q, Chi C, Li X, Zhu G, Xu X, Yan C, Xu Y, Ge J, Pang J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28698260", "url": "https://glygen.org/publication/PubMed/28698260" } ] }, { "title": "Rictor regulates the vasculogenic mimicry of melanoma via the AKT-MMP-2/9 pathway.", "journal": "Journal of cellular and molecular medicine", "date": "2017-12", "authors": "Liang Xingmei, Sun Ran, Zhao Xiulan, Zhang Yanhui, Gu Qiang, Dong Xueyi, Zhang Danfang, Sun Junying, Sun Baocun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28699701", "url": "https://glygen.org/publication/PubMed/28699701" } ] }, { "title": "Conditional cell reprogramming involves non-canonical \u03b2-catenin activation and mTOR-mediated inactivation of Akt.", "journal": "PloS one", "date": "2017", "authors": "Suprynowicz Frank A, Kamonjoh Christopher M, Krawczyk Ewa, Agarwal Seema, Wellstein Anton, Agboke Fadeke A, Choudhury Sujata, Liu Xuefeng, Schlegel Richard", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28700668", "url": "https://glygen.org/publication/PubMed/28700668" } ] }, { "title": "Asxl1 deficiency in embryonic fibroblasts leads to cellular senescence via impairment of the AKT-E2F pathway and Ezh2 inactivation.", "journal": "Scientific reports", "date": "2017", "authors": "Youn HS, Kim TY, Park UH, Moon ST, An SJ, Lee YK, Hwang JT, Kim EJ, Um SJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28701722", "url": "https://glygen.org/publication/PubMed/28701722" } ] }, { "title": "Avian reovirus p17 and \u03c3A act cooperatively to downregulate Akt by suppressing mTORC2 and CDK2/cyclin A2 and upregulating proteasome PSMB6.", "journal": "Scientific reports", "date": "2017-07-12", "authors": "Huang Wei-Ru, Chi Pei-I, Chiu Hung-Chuan, Hsu Jue-Liang, Nielsen Brent L, Liao Tsai-Ling, Liu Hung-Jen", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28701787", "url": "https://glygen.org/publication/PubMed/28701787" } ] }, { "title": "NADPH oxidase 5 (NOX5)-induced reactive oxygen signaling modulates normoxic HIF-1alpha and p27(Kip1) expression in malignant melanoma and other human tumors.", "journal": "Molecular carcinogenesis", "date": "2017", "authors": "Antony S, Jiang G, Wu Y, Meitzler JL, Makhlouf HR, Haines DC, Butcher D, Hoon DS, Ji J, Zhang Y, Juhasz A, Lu J, Liu H, Dahan I, Konate M, Roy KK, Doroshow JH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28762556", "url": "https://glygen.org/publication/PubMed/28762556" } ] }, { "title": "Inhibition of AKT1 signaling promotes invasion and metastasis of non-small cell lung cancer cells with K-RAS or EGFR mutations.", "journal": "Scientific reports", "date": "2017", "authors": "Rao G, Pierobon M, Kim IK, Hsu WH, Deng J, Moon YW, Petricoin EF, Zhang YW, Wang Y, Giaccone G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28765579", "url": "https://glygen.org/publication/PubMed/28765579" } ] }, { "title": "Hypomethylation of CNTFRalpha is associated with proliferation and poor prognosis in lower grade gliomas.", "journal": "Scientific reports", "date": "2017", "authors": "Fan K, Wang X, Zhang J, Ramos RI, Zhang H, Li C, Ye D, Kang J, Marzese DM, Hoon DSB, Hua W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28765641", "url": "https://glygen.org/publication/PubMed/28765641" } ] }, { "title": "miR-125a-3p/FUT5-FUT6 axis mediates colorectal cancer cell proliferation, migration, invasion and pathological angiogenesis via PI3K-Akt pathway.", "journal": "Cell death & disease", "date": "2017", "authors": "Liang L, Gao C, Li Y, Sun M, Xu J, Li H, Jia L, Zhao Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28771224", "url": "https://glygen.org/publication/PubMed/28771224" } ] }, { "title": "Amyloid \u03b21-42 (A\u03b21-42) Induces the CDK2-Mediated Phosphorylation of Tau through the Activation of the mTORC1 Signaling Pathway While Promoting Neuronal Cell Death.", "journal": "Frontiers in molecular neuroscience", "date": "2017", "authors": "Lee Ki Hoon, Lee Sei-Jung, Lee Hyun Jik, Choi Gee Euhn, Jung Young Hyun, Kim Dah Ihm, Gabr Amr Ahmed, Ryu Jung Min, Han Ho Jae", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28790888", "url": "https://glygen.org/publication/PubMed/28790888" } ] }, { "title": "Targeting the PI3K/Akt/mTOR signalling pathway in Cystic Fibrosis.", "journal": "Scientific reports", "date": "2017", "authors": "Reilly R, Mroz MS, Dempsey E, Wynne K, Keely SJ, McKone EF, Hiebel C, Behl C, Coppinger JA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28794469", "url": "https://glygen.org/publication/PubMed/28794469" } ] }, { "title": "Up-regulation of BRCA1-associated RING Domain 1 Promotes Hepatocellular Carcinoma Progression by Targeting Akt Signaling.", "journal": "Scientific reports", "date": "2017", "authors": "Liao Y, Yuan S, Chen X, Zhu P, Li J, Qin L, Liao W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28794477", "url": "https://glygen.org/publication/PubMed/28794477" } ] }, { "title": "The quinic acid derivative KZ-41 prevents glucose-induced caspase-3 activation in retinal endothelial cells through an IGF-1 receptor dependent mechanism.", "journal": "PloS one", "date": "2017", "authors": "He H, Weir RL, Toutounchian JJ, Pagadala J, Steinle JJ, Baudry J, Miller DD, Yates CR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28796787", "url": "https://glygen.org/publication/PubMed/28796787" } ] }, { "title": "Disrupting glutamine metabolic pathways to sensitize gemcitabine-resistant pancreatic cancer.", "journal": "Scientific reports", "date": "2017-08-11", "authors": "Chen Ru, Lai Lisa A, Sullivan Yumi, Wong Melissa, Wang Lei, Riddell Jonah, Jung Linda, Pillarisetty Venu G, Brentnall Teresa A, Pan Sheng", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28801576", "url": "https://glygen.org/publication/PubMed/28801576" } ] }, { "title": "Tumor microenvironment conditions alter Akt and Na(+)/H(+) exchanger NHE1 expression in endothelial cells more than hypoxia alone: implications for endothelial cell function in cancer.", "journal": "BMC cancer", "date": "2017", "authors": "Pedersen AK, Mendes Lopes de Melo J, Morup N, Tritsaris K, Pedersen SF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28806945", "url": "https://glygen.org/publication/PubMed/28806945" } ] }, { "title": "Secretory phospholipase A2 modified HDL rapidly and potently suppresses platelet activation.", "journal": "Scientific reports", "date": "2017", "authors": "Curcic S, Holzer M, Pasterk L, Knuplez E, Eichmann TO, Frank S, Zimmermann R, Schicho R, Heinemann A, Marsche G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28808297", "url": "https://glygen.org/publication/PubMed/28808297" } ] }, { "title": "Suppression of GRK2 expression reduces endothelial dysfunction by restoring glucose homeostasis.", "journal": "Scientific reports", "date": "2017-08-16", "authors": "Taguchi Kumiko, Hida Mari, Hasegawa Mami, Narimatsu Haruka, Matsumoto Takayuki, Kobayashi Tsuneo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28814745", "url": "https://glygen.org/publication/PubMed/28814745" } ] }, { "title": "Signaling Cascade Involved in Rapid Stimulation of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) by Dexamethasone.", "journal": "International journal of molecular sciences", "date": "2017", "authors": "Bossmann M, Ackermann BW, Thome UH, Laube M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28825630", "url": "https://glygen.org/publication/PubMed/28825630" } ] }, { "title": "Reptin regulates insulin-stimulated Akt phosphorylation in hepatocellular carcinoma via the regulation of SHP-1/PTPN6.", "journal": "Cell biochemistry and function", "date": "2017", "authors": "Raymond AA, Javary J, Breig O, Neaud V, Rosenbaum J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28833338", "url": "https://glygen.org/publication/PubMed/28833338" } ] }, { "title": "CISD2 enhances the chemosensitivity of gastric cancer through the enhancement of 5-FU-induced apoptosis and the inhibition of autophagy by AKT/mTOR pathway.", "journal": "Cancer medicine", "date": "2017", "authors": "Sun Y, Jiang Y, Huang J, Chen H, Liao Y, Yang Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28857517", "url": "https://glygen.org/publication/PubMed/28857517" } ] }, { "title": "Convergent Akt activation drives acquired EGFR inhibitor resistance in lung cancer.", "journal": "Nature communications", "date": "2017-09-04", "authors": "Jacobsen Kirstine, Bertran-Alamillo Jordi, Molina Miguel Angel, Teixid\u00f3 Cristina, Karachaliou Niki, Pedersen Martin Haar, Castellv\u00ed Josep, Garz\u00f3n M\u00f3nica, Codony-Servat Carles, Codony-Servat Jordi, Gim\u00e9nez-Capit\u00e1n Ana, Drozdowskyj Ana, Viteri Santiago, Larsen Martin R, Lassen Ulrik, Felip Enriqueta, Bivona Trever G, Ditzel Henrik J, Rosell Rafael", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28871105", "url": "https://glygen.org/publication/PubMed/28871105" } ] }, { "title": "Inhibition of PI3K/Akt/mTOR signaling in PI3KR2-overexpressing colon cancer stem cells reduces tumor growth due to apoptosis.", "journal": "Oncotarget", "date": "2017", "authors": "Chen S, Fisher RC, Signs S, Molina LA, Shenoy AK, Lopez MC, Baker HV, Koomen JM, Chen Y, Gittleman H, Barnholtz-Sloan J, Berg A, Appelman HD, Huang EH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28881576", "url": "https://glygen.org/publication/PubMed/28881576" } ] }, { "title": "Enhanced efficacy of AKT and FAK kinase combined inhibition in squamous cell lung carcinomas with stable reduction in PTEN.", "journal": "Oncotarget", "date": "2017", "authors": "Cavazzoni A, La Monica S, Alfieri R, Ravelli A, Van Der Steen N, Sciarrillo R, Madeddu D, Lagrasta CAM, Quaini F, Bonelli M, Fumarola C, Cretella D, Digiacomo G, Tiseo M, Peters GJ, Ardizzoni A, Petronini PG, Giovannetti E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28881794", "url": "https://glygen.org/publication/PubMed/28881794" } ] }, { "title": "AKT can modulate the in vitro response of HNSCC cells to irreversible EGFR inhibitors.", "journal": "Oncotarget", "date": "2017-08-08", "authors": "Silva-Oliveira Renato Jos\u00e9, Melendez Matias, Martinho Olga, Zanon Maicon F, de Souza Viana Luciano, Carvalho Andr\u00e9 Lopes, Reis Rui Manuel", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28881811", "url": "https://glygen.org/publication/PubMed/28881811" } ] }, { "title": "Casein kinase 2 is a critical determinant of the balance of Th17 and Treg cell differentiation.", "journal": "Experimental & molecular medicine", "date": "2017", "authors": "Jang SW, Hwang SS, Kim HS, Lee KO, Kim MK, Lee W, Kim K, Lee GR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28883547", "url": "https://glygen.org/publication/PubMed/28883547" } ] }, { "title": "KIF7 attenuates prostate tumor growth through LKB1-mediated AKT inhibition.", "journal": "Oncotarget", "date": "2017", "authors": "Wong KY, Liu J, Chan KW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28903364", "url": "https://glygen.org/publication/PubMed/28903364" } ] }, { "title": "Pasireotide is more effective than octreotide, alone or combined with everolimus on human meningioma in vitro.", "journal": "Oncotarget", "date": "2017", "authors": "Graillon T, Romano D, Defilles C, Lisbonis C, Saveanu A, Figarella-Branger D, Roche PH, Fuentes S, Chinot O, Dufour H, Barlier A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28903425", "url": "https://glygen.org/publication/PubMed/28903425" } ] }, { "title": "Thioredoxin 1 is associated with the proliferation and apoptosis of rheumatoid arthritis fibroblast-like synoviocytes.", "journal": "Clinical rheumatology", "date": "2018", "authors": "Lu T, Zong M, Fan S, Lu Y, Yu S, Fan L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28914370", "url": "https://glygen.org/publication/PubMed/28914370" } ] }, { "title": "Baicalein inhibits pancreatic cancer cell proliferation and invasion via suppression of NEDD9 expression and its downstream Akt and ERK signaling pathways.", "journal": "Oncotarget", "date": "2017", "authors": "Zhou RT, He M, Yu Z, Liang Y, Nie Y, Tai S, Teng CB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28915595", "url": "https://glygen.org/publication/PubMed/28915595" } ] }, { "title": "Inhibition of the PI3K/AKT/mTOR pathway activates autophagy and compensatory Ras/Raf/MEK/ERK signalling in prostate cancer.", "journal": "Oncotarget", "date": "2017", "authors": "Butler DE, Marlein C, Walker HF, Frame FM, Mann VM, Simms MS, Davies BR, Collins AT, Maitland NJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28915623", "url": "https://glygen.org/publication/PubMed/28915623" } ] }, { "title": "Identification of 4-phenylquinolin-2(1H)-one as a specific allosteric inhibitor of Akt.", "journal": "Scientific reports", "date": "2017-09-15", "authors": "Huang Bill X, Newcomer Kenny, Kevala Karl, Barnaeva Elena, Zheng Wei, Hu Xin, Patnaik Samarjit, Southall Noel, Marugan Juan, Ferrer Marc, Kim Hee-Yong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28916818", "url": "https://glygen.org/publication/PubMed/28916818" } ] }, { "title": "The dual PI3K/mTOR inhibitor GSK2126458 is effective for treating solid renal tumours in Tsc2(+/-) mice through suppression of cell proliferation and induction of apoptosis.", "journal": "Oncotarget", "date": "2017", "authors": "Narov K, Yang J, Samsel P, Jones A, Sampson JR, Shen MH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28938574", "url": "https://glygen.org/publication/PubMed/28938574" } ] }, { "title": "Mifepristone enhances insulin-stimulated Akt phosphorylation and glucose uptake in skeletal muscle cells.", "journal": "Molecular and cellular endocrinology", "date": "2018", "authors": "Bernal-Sore I, Navarro-Marquez M, Osorio-Fuentealba C, Diaz-Castro F, Del Campo A, Donoso-Barraza C, Porras O, Lavandero S, Troncoso R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28943275", "url": "https://glygen.org/publication/PubMed/28943275" } ] }, { "title": "Repeated lipopolysaccharide exposure causes corticosteroid insensitive airway inflammation via activation of phosphoinositide-3-kinase \u03b4 pathway.", "journal": "Biochemistry and biophysics reports", "date": "2016-09", "authors": "Ueda Keitaro, Nishimoto Yuki, Kimura Genki, Masuko Takashi, Barnes Peter J, Ito Kazuhiro, Kizawa Yasuo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28955927", "url": "https://glygen.org/publication/PubMed/28955927" } ] }, { "title": "Novel ATP-competitive Akt inhibitor afuresertib suppresses the proliferation of malignant pleural mesothelioma cells.", "journal": "Cancer medicine", "date": "2017", "authors": "Yamaji M, Ota A, Wahiduzzaman M, Karnan S, Hyodo T, Konishi H, Tsuzuki S, Hosokawa Y, Haniuda M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28960945", "url": "https://glygen.org/publication/PubMed/28960945" } ] }, { "title": "Cytotoxic effects exerted by pentachlorophenol by targeting nodal pro-survival signaling pathways in human pancreatic cancer cells.", "journal": "Toxicology reports", "date": "2014", "authors": "Schaefer S, Kreutzer JN, Issinger OG, Guerra B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28962326", "url": "https://glygen.org/publication/PubMed/28962326" } ] }, { "title": "AKT overactivation can suppress DNA repair via p70S6 kinase-dependent downregulation of MRE11.", "journal": "Oncogene", "date": "2018", "authors": "Piscitello D, Varshney D, Lilla S, Vizioli MG, Reid C, Gorbunova V, Seluanov A, Gillespie DA, Adams PD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28967905", "url": "https://glygen.org/publication/PubMed/28967905" } ] }, { "title": "Association of mSin1 with mTORC2 Ras and Akt reveals a crucial domain on mSin1 involved in Akt phosphorylation.", "journal": "Oncotarget", "date": "2017", "authors": "Yao CA, Ortiz-Vega S, Sun YY, Chien CT, Chuang JH, Lin Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28968999", "url": "https://glygen.org/publication/PubMed/28968999" } ] }, { "title": "Breast cancer suppression by aplysin is associated with inhibition of PI3K/AKT/FOXO3a pathway.", "journal": "Oncotarget", "date": "2017", "authors": "Zhang X, Zhuang T, Liang Z, Li L, Xue M, Liu J, Liang H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28969041", "url": "https://glygen.org/publication/PubMed/28969041" } ] }, { "title": "Inositol Hexaphosphate Inhibits Proliferation and Induces Apoptosis of Colon Cancer Cells by Suppressing the AKT/mTOR Signaling Pathway.", "journal": "Molecules (Basel, Switzerland)", "date": "2017", "authors": "Kapral M, Wawszczyk J, Jesse K, Paul-Samojedny M, Kusmierz D, Weglarz L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28972559", "url": "https://glygen.org/publication/PubMed/28972559" } ] }, { "title": "Mycobacterial cord factor enhances migration of neutrophil-like HL-60 cells by prolonging AKT phosphorylation.", "journal": "Microbiology and immunology", "date": "2017", "authors": "Lee WB, Yan JJ, Kang JS, Chung S, Kim LK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28976590", "url": "https://glygen.org/publication/PubMed/28976590" } ] }, { "title": "Downregulation of X-linked inhibitor of apoptosis protein by '7-Benzylidenenaltrexone maleate' sensitizes pancreatic cancer cells to TRAIL-induced apoptosis.", "journal": "Oncotarget", "date": "2017", "authors": "Kim SY, Park S, Yoo S, Rho JK, Jun ES, Chang S, Kim KK, Kim SC, Kim I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28977846", "url": "https://glygen.org/publication/PubMed/28977846" } ] }, { "title": "ABI3, a component of the WAVE2 complex, is potentially regulated by PI3K/AKT pathway.", "journal": "Oncotarget", "date": "2017-09-15", "authors": "Moraes Lais, Zanchin Nilson I T, Cerutti Janete M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28978070", "url": "https://glygen.org/publication/PubMed/28978070" } ] }, { "title": "The interplay of CD150 and CD180 receptor pathways contribute to the pathobiology of chronic lymphocytic leukemia B cells by selective inhibition of Akt and MAPK signaling.", "journal": "PloS one", "date": "2017", "authors": "Gordiienko I, Shlapatska L, Kholodniuk V, Sklyarenko L, Gluzman DF, Clark EA, Sidorenko SP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28982149", "url": "https://glygen.org/publication/PubMed/28982149" } ] }, { "title": "Down regulation of Peroxiredoxin-3 in 3T3-L1 adipocytes leads to oxidation of Rictor in the mammalian-target of rapamycin complex 2 (mTORC2).", "journal": "Biochemical and biophysical research communications", "date": "2017", "authors": "Olson DH, Burrill JS, Kuzmicic J, Hahn WS, Park JM, Kim DH, Bernlohr DA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28986255", "url": "https://glygen.org/publication/PubMed/28986255" } ] }, { "title": "Impairment of Akt activity by CYP2E1 mediated oxidative stress is involved in chronic ethanol-induced fatty liver.", "journal": "Redox biology", "date": "2018", "authors": "Zeng T, Zhang CL, Zhao N, Guan MJ, Xiao M, Yang R, Zhao XL, Yu LH, Zhu ZP, Xie KQ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28987868", "url": "https://glygen.org/publication/PubMed/28987868" } ] }, { "title": "N-terminal gelsolin fragment potentiates TRAIL mediated death in resistant hepatoma cells.", "journal": "Scientific reports", "date": "2017", "authors": "Meyer K, Kwon YC, Ray RB, Ray R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28993697", "url": "https://glygen.org/publication/PubMed/28993697" } ] }, { "title": "Identification of a RAC/AKT-like gene in Leishmania parasites as a putative therapeutic target in leishmaniasis.", "journal": "Parasites & vectors", "date": "2017", "authors": "Varela-M RE, Ochoa R, Muskus CE, Muro A, Mollinedo F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29017516", "url": "https://glygen.org/publication/PubMed/29017516" } ] }, { "title": "Omentin-1 effects on mesenchymal stem cells: proliferation, apoptosis, and angiogenesis in vitro.", "journal": "Stem cell research & therapy", "date": "2017", "authors": "Yin L, Huang D, Liu X, Wang Y, Liu J, Liu F, Yu B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29017592", "url": "https://glygen.org/publication/PubMed/29017592" } ] }, { "title": "Stabilization of phosphofructokinase 1 platelet isoform by AKT promotes tumorigenesis.", "journal": "Nature communications", "date": "2017", "authors": "Lee JH, Liu R, Li J, Zhang C, Wang Y, Cai Q, Qian X, Xia Y, Zheng Y, Piao Y, Chen Q, de Groot JF, Jiang T, Lu Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29038421", "url": "https://glygen.org/publication/PubMed/29038421" } ] }, { "title": "Betulinic acid induces apoptosis by regulating PI3K/Akt signaling and mitochondrial pathways in human cervical cancer cells.", "journal": "International journal of molecular medicine", "date": "2017", "authors": "Xu T, Pang Q, Wang Y, Yan X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29039440", "url": "https://glygen.org/publication/PubMed/29039440" } ] }, { "title": "Quercetin protects against radiocontrast medium toxicity in human renal proximal tubular cells.", "journal": "Journal of cellular physiology", "date": "2018", "authors": "Andreucci M, Faga T, Pisani A, Serra R, Russo D, De Sarro G, Michael A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29044520", "url": "https://glygen.org/publication/PubMed/29044520" } ] }, { "title": "ESE-1/ELF3 mRNA expression associates with poor survival outcomes in HER2+ breast cancer patients and is critical for tumorigenesis in HER2+ breast cancer cells.", "journal": "Oncotarget", "date": "2017-09-19", "authors": "Kar Adwitiya, Gutierrez-Hartmann Arthur", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29050229", "url": "https://glygen.org/publication/PubMed/29050229" } ] }, { "title": "Intramyocellular Lipid Droplet Size Rather Than Total Lipid Content is Related to Insulin Sensitivity After 8 Weeks of Overfeeding.", "journal": "Obesity (Silver Spring, Md.)", "date": "2017", "authors": "Covington JD, Johannsen DL, Coen PM, Burk DH, Obanda DN, Ebenezer PJ, Tam CS, Goodpaster BH, Ravussin E, Bajpeyi S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29071793", "url": "https://glygen.org/publication/PubMed/29071793" } ] }, { "title": "Dual inhibition of the mTORC1 and mTORC2 signaling pathways is a promising therapeutic target for adult T-cell leukemia.", "journal": "Cancer science", "date": "2018", "authors": "Kawata T, Tada K, Kobayashi M, Sakamoto T, Takiuchi Y, Iwai F, Sakurada M, Hishizawa M, Shirakawa K, Shindo K, Sato H, Takaori-Kondo A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29077243", "url": "https://glygen.org/publication/PubMed/29077243" } ] }, { "title": "Increased intracellular Ca(2+) concentrations prevent membrane localization of PH domains through the formation of Ca(2+)-phosphoinositides.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2017", "authors": "Kang JK, Kim OH, Hur J, Yu SH, Lamichhane S, Lee JW, Ojha U, Hong JH, Lee CS, Cha JY, Lee YJ, Im SS, Park YJ, Choi CS, Lee DH, Lee IK, Oh BC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29078297", "url": "https://glygen.org/publication/PubMed/29078297" } ] }, { "title": "Combining thioridazine and loratadine for the treatment of gastrointestinal tumor.", "journal": "Oncology letters", "date": "2017", "authors": "Chen T, Hu Y, Liu B, Huang X, Li Q, Gao N, Jin Z, Jia T, Guo D, Jin G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29085455", "url": "https://glygen.org/publication/PubMed/29085455" } ] }, { "title": "Activation of CaMKII\u03b3 potentiates T-cell acute lymphoblastic leukemia leukemogenesis via phosphorylating FOXO3a.", "journal": "Oncotarget", "date": "2017-09-26", "authors": "Jiang Xudong, Wu Zhaoxing, Lu Xiaoya, Zhang Xuzhao, Yu Qingfeng, Gan Yichao, Wu Bowen, Xu Ying, Zheng Weiwei, Zhang Lei, Xu Fei, Ma An, Gan Xiaoxian, Huang Silvia, Yu Xiaofang, Huang Wendong, Xu Rongzhen", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29088844", "url": "https://glygen.org/publication/PubMed/29088844" } ] }, { "title": "Lasp1 promotes malignant phenotype of non-small-cell lung cancer via inducing phosphorylation of FAK-AKT pathway.", "journal": "Oncotarget", "date": "2017", "authors": "Zhang X, Liu Y, Fan C, Wang L, Li A, Zhou H, Cai L, Miao Y, Li Q, Qiu X, Wang E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29088849", "url": "https://glygen.org/publication/PubMed/29088849" } ] }, { "title": "Akt1 and Akt3 but not Akt2 through interaction with DNA-PKcs stimulate proliferation and post-irradiation cell survival of K-RAS-mutated cancer cells.", "journal": "Cell death discovery", "date": "2017", "authors": "Toulany M, Maier J, Iida M, Rebholz S, Holler M, Grottke A, Juker M, Wheeler DL, Rothbauer U, Rodemann HP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29090098", "url": "https://glygen.org/publication/PubMed/29090098" } ] }, { "title": "Modulation of telomere protection by the PI3K/AKT pathway.", "journal": "Nature communications", "date": "2017", "authors": "Mendez-Pertuz M, Martinez P, Blanco-Aparicio C, Gomez-Casero E, Belen Garcia A, Martinez-Torrecuadrada J, Palafox M, Cortes J, Serra V, Pastor J, Blasco MA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29097657", "url": "https://glygen.org/publication/PubMed/29097657" } ] }, { "title": "Investigation of FoxO3 dynamics during erythroblast development in beta-thalassemia major.", "journal": "PloS one", "date": "2017", "authors": "Thanuthanakhun N, Nuntakarn L, Sampattavanich S, Anurathapan U, Phuphanitcharoenkun S, Pornpaiboonstid S, Borwornpinyo S, Hongeng S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29099866", "url": "https://glygen.org/publication/PubMed/29099866" } ] }, { "title": "ATP2B1 gene Silencing Increases Insulin Sensitivity through Facilitating Akt Activation via the Ca(2+)/calmodulin Signaling Pathway and Ca(2+)-associated eNOS Activation in Endothelial Cells.", "journal": "International journal of biological sciences", "date": "2017", "authors": "Long Y, Xia JY, Chen SW, Gao CL, Liang GN, He XM, Wu J, Jiang CX, Liu X, Huang W, Wan Q, Xu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29104511", "url": "https://glygen.org/publication/PubMed/29104511" } ] }, { "title": "Eupatolide inhibits the TGF-beta1-induced migration of breast cancer cells via downregulation of SMAD3 phosphorylation and transcriptional repression of ALK5.", "journal": "Oncology letters", "date": "2017", "authors": "Boldbaatar A, Lee S, Han S, Jeong AL, Ka HI, Buyanravjikh S, Lee JH, Lim JS, Lee MS, Yang Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29113242", "url": "https://glygen.org/publication/PubMed/29113242" } ] }, { "title": "FKBP51 decreases cell proliferation and increases progestin sensitivity of human endometrial adenocarcinomas by inhibiting Akt.", "journal": "Oncotarget", "date": "2017", "authors": "Dong J, Jiao Y, Mu W, Lu B, Wei M, Sun L, Hu S, Cui B, Liu X, Chen Z, Zhao Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29113312", "url": "https://glygen.org/publication/PubMed/29113312" } ] }, { "title": "Receptor tyrosine kinase activation of RhoA is mediated by AKT phosphorylation of DLC1.", "journal": "The Journal of cell biology", "date": "2017", "authors": "Tripathi BK, Grant T, Qian X, Zhou M, Mertins P, Wang D, Papageorge AG, Tarasov SG, Hunter KW, Carr SA, Lowy DR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29114068", "url": "https://glygen.org/publication/PubMed/29114068" } ] }, { "title": "The EphB6 receptor is overexpressed in pediatric T cell acute lymphoblastic leukemia and increases its sensitivity to doxorubicin treatment.", "journal": "Scientific reports", "date": "2017", "authors": "El Zawily A, McEwen E, Toosi B, Vizeacoumar FS, Freywald T, Vizeacoumar FJ, Freywald A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29116180", "url": "https://glygen.org/publication/PubMed/29116180" } ] }, { "title": "\u03c9-3 polyunsaturated fatty acids direct differentiation of the membrane phenotype in mesenchymal stem cells to potentiate osteogenesis.", "journal": "Science advances", "date": "2017-11", "authors": "Levental Kandice R, Surma Michal A, Skinkle Allison D, Lorent Joseph H, Zhou Yong, Klose Christian, Chang Jeffrey T, Hancock John F, Levental Ilya", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29134198", "url": "https://glygen.org/publication/PubMed/29134198" } ] }, { "title": "c-Met, CREB1 and EGFR are involved in miR-493-5p inhibition of EMT via AKT/GSK-3beta/Snail signaling in prostate cancer.", "journal": "Oncotarget", "date": "2017", "authors": "Wang S, Wang X, Li J, Meng S, Liang Z, Xu X, Zhu Y, Li S, Wu J, Xu M, Ji A, Lin Y, Liu B, Zheng X, Xie B, Xie L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29137265", "url": "https://glygen.org/publication/PubMed/29137265" } ] }, { "title": "Mcl-1 stabilization confers resistance to taxol in human gastric cancer.", "journal": "Oncotarget", "date": "2017", "authors": "Shuang W, Hou L, Zhu Y, Li Q, Hu W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29137317", "url": "https://glygen.org/publication/PubMed/29137317" } ] }, { "title": "Curcumin Induces Apoptosis in EJ Bladder Cancer Cells via Modulating C-Myc and PI3K/Akt Signaling Pathway.", "journal": "World journal of oncology", "date": "2011", "authors": "Wang J, Wang Z, Wang H, Zhao J, Zhang Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29147235", "url": "https://glygen.org/publication/PubMed/29147235" } ] }, { "title": "Mechanism of activation of SGK3 by growth factors via the Class 1 and Class 3 PI3Ks.", "journal": "The Biochemical journal", "date": "2018", "authors": "Malik N, Macartney T, Hornberger A, Anderson KE, Tovell H, Prescott AR, Alessi DR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29150437", "url": "https://glygen.org/publication/PubMed/29150437" } ] }, { "title": "GZD824 suppresses the growth of human B cell precursor acute lymphoblastic leukemia cells by inhibiting the SRC kinase and PI3K/AKT pathways.", "journal": "Oncotarget", "date": "2017", "authors": "Ye W, Jiang Z, Lu X, Ren X, Deng M, Lin S, Xiao Y, Lin S, Wang S, Li B, Zheng Y, Lai P, Weng J, Wu D, Ma Y, Chen X, Wen Z, Chen Y, Feng X, Li Y, Liu P, Du X, Pei D, Yao Y, Xu B, Ding K, Li P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29152059", "url": "https://glygen.org/publication/PubMed/29152059" } ] }, { "title": "Capsaicin exerts synergistic antitumor effect with sorafenib in hepatocellular carcinoma cells through AMPK activation.", "journal": "Oncotarget", "date": "2017-10-20", "authors": "Bort Alicia, Sp\u00ednola Elena, Rodr\u00edguez-Henche Nieves, D\u00edaz-Laviada In\u00e9s", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29152112", "url": "https://glygen.org/publication/PubMed/29152112" } ] }, { "title": "Antiproliferative and apoptotic effects of xanthohumol in cholangiocarcinoma.", "journal": "Oncotarget", "date": "2017-10-20", "authors": "Walden Daniel, Kunnimalaiyaan Selvi, Sokolowski Kevin, Clark T Gamblin, Kunnimalaiyaan Muthusamy", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29152142", "url": "https://glygen.org/publication/PubMed/29152142" } ] }, { "title": "Uncoupling TORC2 from AGC kinases inhibits tumour growth.", "journal": "Oncotarget", "date": "2017-10-17", "authors": "Cameron Angus J M, Veeriah Selvaraju, Marshall Jacqueline J T, Murray Elizabeth R, Larijani Banafsh\u00e9, Parker Peter J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29156676", "url": "https://glygen.org/publication/PubMed/29156676" } ] }, { "title": "A preclinical evaluation of the MEK inhibitor refametinib in HER2-positive breast cancer cell lines including those with acquired resistance to trastuzumab or lapatinib.", "journal": "Oncotarget", "date": "2017-10-17", "authors": "O'Shea John, Cremona Mattia, Morgan Clare, Milewska Malgorzata, Holmes Frankie, Espina Virginia, Liotta Lance, O'Shaughnessy Joyce, Toomey Sinead, Madden Stephen F, Carr Aoife, Elster Naomi, Hennessy Bryan T, Eustace Alex J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29156708", "url": "https://glygen.org/publication/PubMed/29156708" } ] }, { "title": "The Role of Protein Kinase B Signaling Pathway in Anti-Cancer Effect of Rolipram on Glioblastoma Multiforme: An In Vitro Study.", "journal": "Basic and clinical neuroscience", "date": "2017", "authors": "Ramezani Sara, Hadjighassem Mahmoudreza, Vousooghi Nasim, Parvaresh Mansour, Arbabi Farshid, Amini Naser, Joghataei Mohammad Taghi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29158883", "url": "https://glygen.org/publication/PubMed/29158883" } ] }, { "title": "miR-335 inhibited cell proliferation of lung cancer cells by target Tra2beta.", "journal": "Cancer science", "date": "2018", "authors": "Liu J, Bian T, Feng J, Qian L, Zhang J, Jiang D, Zhang Q, Li X, Liu Y, Shi J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29161765", "url": "https://glygen.org/publication/PubMed/29161765" } ] }, { "title": "Ketamine, a Clinically Used Anesthetic, Inhibits Vascular Smooth Muscle Cell Proliferation via PP2A-Activated PI3K/Akt/ERK Inhibition.", "journal": "International journal of molecular sciences", "date": "2017", "authors": "Chang Y, Li JY, Jayakumar T, Hung SH, Lee WC, Manubolu M, Sheu JR, Hsu MJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29186909", "url": "https://glygen.org/publication/PubMed/29186909" } ] }, { "title": "Silibinin suppresses bladder cancer through down-regulation of actin cytoskeleton and PI3K/Akt signaling pathways.", "journal": "Oncotarget", "date": "2017", "authors": "Imai-Sumida M, Chiyomaru T, Majid S, Saini S, Nip H, Dahiya R, Tanaka Y, Yamamura S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29190895", "url": "https://glygen.org/publication/PubMed/29190895" } ] }, { "title": "Elevation of MAP17 enhances the malignant behavior of cells via the Akt/mTOR pathway in hepatocellular carcinoma.", "journal": "Oncotarget", "date": "2017", "authors": "Chen X, Liao Y, Yu Y, Zhu P, Li J, Qin L, Liao W, Huang Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29190940", "url": "https://glygen.org/publication/PubMed/29190940" } ] }, { "title": "Molecular adaptations of adipose tissue to 6\u00a0weeks of morning fasting vs. daily breakfast consumption in lean and obese adults.", "journal": "The Journal of physiology", "date": "2018-02-15", "authors": "Gonzalez Javier T, Richardson Judith D, Chowdhury Enhad A, Koumanov Francoise, Holman Geoffrey D, Cooper Scott, Thompson Dylan, Tsintzas Kostas, Betts James A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29193093", "url": "https://glygen.org/publication/PubMed/29193093" } ] }, { "title": "The 3p14.2 tumour suppressor ADAMTS9 is inactivated by promoter CpG methylation and inhibits tumour cell growth in breast cancer.", "journal": "Journal of cellular and molecular medicine", "date": "2018", "authors": "Shao B, Feng Y, Zhang H, Yu F, Li Q, Tan C, Xu H, Ying J, Li L, Yang D, Peng W, Tang J, Li S, Ren G, Tao Q, Xiang T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29193730", "url": "https://glygen.org/publication/PubMed/29193730" } ] }, { "title": "Expression of CPPED1 in human trophoblasts is associated with timing of term birth.", "journal": "Journal of cellular and molecular medicine", "date": "2018", "authors": "Haapalainen AM, Karjalainen MK, Daddali R, Ohlmeier S, Anttonen J, Maatta TA, Salminen A, Mahlman M, Bergmann U, Makikallio K, Ojaniemi M, Hallman M, Ramet M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29193784", "url": "https://glygen.org/publication/PubMed/29193784" } ] }, { "title": "C-C motif chemokine receptor 1 (CCR1) is a target of the EGF-AKT-mTOR-STAT3 signaling axis in breast cancer cells.", "journal": "Oncotarget", "date": "2017-11-07", "authors": "Shin Soon Young, Lee Da Hyun, Lee Jishin, Choi Chan, Kim Ji-Young, Nam Jeong-Seok, Lim Yoongho, Lee Young Han", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29212252", "url": "https://glygen.org/publication/PubMed/29212252" } ] }, { "title": "ROR2 receptor promotes the migration of osteosarcoma cells in response to Wnt5a.", "journal": "Cancer cell international", "date": "2017", "authors": "Dai Bin, Yan Ting, Zhang Ailiang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29213214", "url": "https://glygen.org/publication/PubMed/29213214" } ] }, { "title": "Hoxa5 increases mitochondrial apoptosis by inhibiting Akt/mTORC1/S6K1 pathway in mice white adipocytes.", "journal": "Oncotarget", "date": "2017", "authors": "Feng F, Ren Q, Wu S, Saeed M, Sun C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29221131", "url": "https://glygen.org/publication/PubMed/29221131" } ] }, { "title": "Alpha-Tocopherol prevents esophageal squamous cell carcinoma by modulating PPAR\u03b3-Akt signaling pathway at the early stage of carcinogenesis.", "journal": "Oncotarget", "date": "2017-11-10", "authors": "Xu Miao, Yang Hui, Zhang Qiannan, Lu Ping, Feng Yongquan, Geng Xue, Zhang Lishi, Jia Xudong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29221176", "url": "https://glygen.org/publication/PubMed/29221176" } ] }, { "title": "Inhibition of pressure-activated cancer cell adhesion by FAK-derived peptides.", "journal": "Oncotarget", "date": "2017", "authors": "Zeng B, Devadoss D, Wang S, Vomhof-DeKrey EE, Kuhn LA, Basson MD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29228673", "url": "https://glygen.org/publication/PubMed/29228673" } ] }, { "title": "Autophagy inhibition sensitizes LY3023414-induced anti-glioma cell activity in vitro and in vivo.", "journal": "Oncotarget", "date": "2017", "authors": "Zheng L, Li H, Mo Y, Qi G, Liu B, Zhao J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29228741", "url": "https://glygen.org/publication/PubMed/29228741" } ] }, { "title": "Survival pathway of cholangiocarcinoma via AKT/mTOR signaling to escape RAF/MEK/ERK pathway inhibition by sorafenib.", "journal": "Oncology reports", "date": "2018", "authors": "Yokoi K, Kobayashi A, Motoyama H, Kitazawa M, Shimizu A, Notake T, Yokoyama T, Matsumura T, Takeoka M, Miyagawa SI", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29251327", "url": "https://glygen.org/publication/PubMed/29251327" } ] }, { "title": "NDRG4 promotes myogenesis via Akt/CREB activation.", "journal": "Oncotarget", "date": "2017", "authors": "Zhu M, Zheng R, Guo Y, Zhang Y, Zuo B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29254199", "url": "https://glygen.org/publication/PubMed/29254199" } ] }, { "title": "VS-5584 mediates potent anti-myeloma activity via the upregulation of a class II tumor suppressor gene, RARRES3 and the activation of Bim.", "journal": "Oncotarget", "date": "2017", "authors": "Mustafa N, Ting Lee JX, Adina Nee HF, Bi C, Chung TH, Hart S, Chng WJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29254208", "url": "https://glygen.org/publication/PubMed/29254208" } ] }, { "title": "Sulforaphane and myricetin act synergistically to induce apoptosis in 3T3L1 adipocytes.", "journal": "Molecular medicine reports", "date": "2018", "authors": "Yao A, Shen Y, Zhang Z, Zou Z, Wang A, Chen S, Zhang H, Chen F, Zhao J, Chen Z, Shan Y, Zhang X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29257275", "url": "https://glygen.org/publication/PubMed/29257275" } ] }, { "title": "Plant flavonoid taxifolin inhibits the growth, migration and invasion of human osteosarcoma cells.", "journal": "Molecular medicine reports", "date": "2018", "authors": "Chen X, Gu N, Xue C, Li BR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29257319", "url": "https://glygen.org/publication/PubMed/29257319" } ] }, { "title": "Delineating the distinct role of AKT in mediating cell survival and proliferation induced by CD154 and IL-4/IL-21 in chronic lymphocytic leukemia.", "journal": "Oncotarget", "date": "2017", "authors": "Chapman EA, Oates M, Mohammad IS, Davies BR, Stockman PK, Zhuang J, Pettitt AR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29262536", "url": "https://glygen.org/publication/PubMed/29262536" } ] }, { "title": "IGF-1R tyrosine kinase inhibitors and Vitamin K1 enhance the antitumor effects of Regorafenib in HCC cell lines.", "journal": "Oncotarget", "date": "2017", "authors": "Refolo MG, D'Alessandro R, Lippolis C, Carella N, Cavallini A, Messa C, Carr BI", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29262576", "url": "https://glygen.org/publication/PubMed/29262576" } ] }, { "title": "Increased expression of GATA zinc finger domain containing 1 through gene amplification promotes liver cancer by directly inducing phosphatase of regenerating liver 3.", "journal": "Hepatology (Baltimore, Md.)", "date": "2018", "authors": "Sun W, Zhang Y, Wong KC, Liu K, Yang Y, Wu B, Tong JHM, Chan AWH, Chan HLY, Yu J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29266303", "url": "https://glygen.org/publication/PubMed/29266303" } ] }, { "title": "Histone methyltransferase KMT2D sustains prostate carcinogenesis and metastasis via epigenetically activating LIFR and KLF4.", "journal": "Oncogene", "date": "2018", "authors": "Lv S, Ji L, Chen B, Liu S, Lei C, Liu X, Qi X, Wang Y, Lai-Han Leung E, Wang H, Zhang L, Yu X, Liu Z, Wei Q, Lu L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29269867", "url": "https://glygen.org/publication/PubMed/29269867" } ] }, { "title": "TNF-alpha and IFN-gamma Together Up-Regulates Par-4 Expression and Induce Apoptosis in Human Neuroblastomas.", "journal": "Biomedicines", "date": "2017", "authors": "Shelke GV, Jagtap JC, Kim DK, Shah RD, Das G, Shivayogi M, Pujari R, Shastry P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29278364", "url": "https://glygen.org/publication/PubMed/29278364" } ] }, { "title": "PDGFA/PDGFRalpha-regulated GOLM1 promotes human glioma progression through activation of AKT.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2017", "authors": "Xu R, Ji J, Zhang X, Han M, Zhang C, Xu Y, Wei Y, Wang S, Huang B, Chen A, Zhang D, Zhang Q, Li W, Jiang Z, Wang J, Li X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29282077", "url": "https://glygen.org/publication/PubMed/29282077" } ] }, { "title": "CXCL8 derived from tumor-associated macrophages and esophageal squamous cell carcinomas contributes to tumor progression by promoting migration and invasion of cancer cells.", "journal": "Oncotarget", "date": "2017", "authors": "Hosono M, Koma YI, Takase N, Urakawa N, Higashino N, Suemune K, Kodaira H, Nishio M, Shigeoka M, Kakeji Y, Yokozaki H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29285315", "url": "https://glygen.org/publication/PubMed/29285315" } ] }, { "title": "Phosphorylated Akt Protein at Ser473 Enables HeLa Cells to Tolerate Nutrient-Deprived Conditions", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2017", "authors": "Fathy M, Awale S, Nikaido T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29286216", "url": "https://glygen.org/publication/PubMed/29286216" } ] }, { "title": "Extracellular Vesicles from Hypoxic Adipocytes and Obese Subjects Reduce Insulin-Stimulated Glucose Uptake.", "journal": "Molecular nutrition & food research", "date": "2018-03", "authors": "Mleczko Justyna, Ortega Francisco J, Falcon-Perez Juan Manuel, Wabitsch Martin, Fernandez-Real Jose Manuel, Mora Silvia", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29292863", "url": "https://glygen.org/publication/PubMed/29292863" } ] }, { "title": "Cell surface GRP78 promotes tumor cell histone acetylation through metabolic reprogramming: a mechanism which modulates the Warburg effect.", "journal": "Oncotarget", "date": "2017-12-08", "authors": "Gopal Udhayakumar, Pizzo Salvatore V", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29296215", "url": "https://glygen.org/publication/PubMed/29296215" } ] }, { "title": "Epoxyazadiradione suppresses breast tumor growth through mitochondrial depolarization and caspase-dependent apoptosis by targeting PI3K/Akt pathway.", "journal": "BMC cancer", "date": "2018", "authors": "Kumar D, Haldar S, Gorain M, Kumar S, Mulani FA, Yadav AS, Miele L, Thulasiram HV, Kundu GC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29310608", "url": "https://glygen.org/publication/PubMed/29310608" } ] }, { "title": "New Insights into the Potential Roles of 3-Iodothyronamine (T1AM) and Newly Developed Thyronamine-Like TAAR1 Agonists in Neuroprotection.", "journal": "Frontiers in pharmacology", "date": "2017", "authors": "Bellusci L, Laurino A, Sabatini M, Sestito S, Lenzi P, Raimondi L, Rapposelli S, Biagioni F, Fornai F, Salvetti A, Rossi L, Zucchi R, Chiellini G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29311919", "url": "https://glygen.org/publication/PubMed/29311919" } ] }, { "title": "Mammalian target of rapamycin inhibition attenuates myocardial ischaemia-reperfusion injury in hypertrophic heart.", "journal": "Journal of cellular and molecular medicine", "date": "2018", "authors": "Ma LL, Ma X, Kong FJ, Guo JJ, Shi HT, Zhu JB, Zou YZ, Ge JB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29314656", "url": "https://glygen.org/publication/PubMed/29314656" } ] }, { "title": "Mechanistic target of rapamycin complex 1 and 2 in human temporal lobe epilepsy.", "journal": "Annals of neurology", "date": "2018-02", "authors": "Talos Delia M, Jacobs Leah M, Gourmaud Sarah, Coto Carlos A, Sun Hongyu, Lim Kuei-Cheng, Lucas Timothy H, Davis Kathryn A, Martinez-Lage Maria, Jensen Frances E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29331082", "url": "https://glygen.org/publication/PubMed/29331082" } ] }, { "title": "Differential roles of ERRFI1 in EGFR and AKT pathway regulation affect cancer proliferation.", "journal": "EMBO reports", "date": "2018", "authors": "Cairns J, Fridley BL, Jenkins GD, Zhuang Y, Yu J, Wang L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29335246", "url": "https://glygen.org/publication/PubMed/29335246" } ] }, { "title": "Effect of Akt activation and experimental pharmacological inhibition on responses to neoadjuvant chemoradiotherapy in rectal cancer.", "journal": "The British journal of surgery", "date": "2018", "authors": "Koyama FC, Lopes Ramos CM, Ledesma F, Alves VAF, Fernandes JM, Vailati BB, Sao Juliao GP, Habr-Gama A, Gama-Rodrigues J, Perez RO, Camargo AA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29341150", "url": "https://glygen.org/publication/PubMed/29341150" } ] }, { "title": "ST6GALNAC1 plays important roles in enhancing cancer stem phenotypes of colorectal cancer via the Akt pathway.", "journal": "Oncotarget", "date": "2017", "authors": "Ogawa T, Hirohashi Y, Murai A, Nishidate T, Okita K, Wang L, Ikehara Y, Satoyoshi T, Usui A, Kubo T, Nakastugawa M, Kanaseki T, Tsukahara T, Kutomi G, Furuhata T, Hirata K, Sato N, Mizuguchi T, Takemasa I, Torigoe T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29348846", "url": "https://glygen.org/publication/PubMed/29348846" } ] }, { "title": "SCD1 Confers Temozolomide Resistance to Human Glioma Cells via the Akt/GSK3beta/beta-Catenin Signaling Axis.", "journal": "Frontiers in pharmacology", "date": "2017", "authors": "Dai S, Yan Y, Xu Z, Zeng S, Qian L, Huo L, Li X, Sun L, Gong Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29354058", "url": "https://glygen.org/publication/PubMed/29354058" } ] }, { "title": "Electrical pulse stimulation induces GLUT4 translocation in a Rac-Akt-dependent manner in C2C12 myotubes.", "journal": "FEBS letters", "date": "2018", "authors": "Hu F, Li N, Li Z, Zhang C, Yue Y, Liu Q, Chen L, Bilan PJ, Niu W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29355935", "url": "https://glygen.org/publication/PubMed/29355935" } ] }, { "title": "Parallel PI3K, AKT and mTOR inhibition is required to control feedback loops that limit tumor therapy.", "journal": "PloS one", "date": "2018", "authors": "Sathe A, Chalaud G, Oppolzer I, Wong KY, von Busch M, Schmid SC, Tong Z, Retz M, Gschwend JE, Schulz WA, Nawroth R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29357370", "url": "https://glygen.org/publication/PubMed/29357370" } ] }, { "title": "Glycans modify mesenchymal stem cell differentiation to impact on the function of resulting osteoblasts.", "journal": "Journal of cell science", "date": "2018", "authors": "Wilson KM, Jagger AM, Walker M, Seinkmane E, Fox JM, Kroger R, Genever P, Ungar D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29361539", "url": "https://glygen.org/publication/PubMed/29361539" } ] }, { "title": "FKBP51 regulates decidualization through Ser473 dephosphorylation of AKT.", "journal": "Reproduction (Cambridge, England)", "date": "2018", "authors": "Wei M, Gao Y, Lu B, Jiao Y, Liu X, Cui B, Hu S, Sun L, Mao S, Dong J, Yan L, Chen Z, Zhao Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29363568", "url": "https://glygen.org/publication/PubMed/29363568" } ] }, { "title": "Autophagy Induced by Naftopidil Inhibits Apoptosis of Human Gastric Cancer Cells.", "journal": "Anticancer research", "date": "2018", "authors": "Nakamura A, Matsunaga W, Gotoh A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29374705", "url": "https://glygen.org/publication/PubMed/29374705" } ] }, { "title": "Cisplatin and Pemetrexed Activate AXL and AXL Inhibitor BGB324 Enhances Mesothelioma Cell Death from Chemotherapy.", "journal": "Frontiers in pharmacology", "date": "2017", "authors": "Oien DB, Garay T, Eckstein S, Chien J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29375377", "url": "https://glygen.org/publication/PubMed/29375377" } ] }, { "title": "Alphavirus-induced hyperactivation of PI3K/AKT directs pro-viral metabolic changes.", "journal": "PLoS pathogens", "date": "2018", "authors": "Mazzon M, Castro C, Thaa B, Liu L, Mutso M, Liu X, Mahalingam S, Griffin JL, Marsh M, McInerney GM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29377936", "url": "https://glygen.org/publication/PubMed/29377936" } ] }, { "title": "Matrine Inhibits Neuroblastoma Cell Proliferation and Migration by Enhancing Tribbles 3 Expression.", "journal": "Oncology research", "date": "2018-08-23", "authors": "Shen Xiaowei, Huang Jianping, Liu Gang, Zhang Hao, Zhang Xiwei, Kong Xiancheng, Du Lei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29386091", "url": "https://glygen.org/publication/PubMed/29386091" } ] }, { "title": "LLO-mediated Cell Resealing System for Analyzing Intracellular Activity of Membrane-impermeable Biopharmaceuticals of Mid-sized Molecular Weight.", "journal": "Scientific reports", "date": "2018", "authors": "Murakami M, Kano F, Murata M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29386585", "url": "https://glygen.org/publication/PubMed/29386585" } ] }, { "title": "Combination Treatment of Deep Sea Water and Fucoidan Attenuates High Glucose-Induced Insulin-Resistance in HepG2 Hepatocytes.", "journal": "Marine drugs", "date": "2018", "authors": "He S, Peng WB, Zhou HL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29393871", "url": "https://glygen.org/publication/PubMed/29393871" } ] }, { "title": "Ormeloxifene-induced unfolded protein response contributes to autophagy-associated apoptosis via disruption of Akt/mTOR and activation of JNK.", "journal": "Scientific reports", "date": "2018-02-02", "authors": "Bhattacharjee Arindam, Hasanain Mohammad, Kathuria Manoj, Singh Akhilesh, Datta Dipak, Sarkar Jayanta, Mitra Kalyan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29396506", "url": "https://glygen.org/publication/PubMed/29396506" } ] }, { "title": "Crambescidin 800, Isolated from the Marine Sponge Monanchora viridis, Induces Cell Cycle Arrest and Apoptosis in Triple-Negative Breast Cancer Cells.", "journal": "Marine drugs", "date": "2018", "authors": "Shrestha S, Sorolla A, Fromont J, Blancafort P, Flematti GR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29419736", "url": "https://glygen.org/publication/PubMed/29419736" } ] }, { "title": "Clinical outcomes and differential effects of PI3K pathway mutation in obese versus non-obese patients with cervical cancer.", "journal": "Oncotarget", "date": "2018", "authors": "Grigsby P, Elhammali A, Ruiz F, Markovina S, McLellan MD, Miller CA, Chundury A, Ta NL, Rashmi R, Pfeifer JD, Fulton RS, DeWees T, Schwarz JK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29423104", "url": "https://glygen.org/publication/PubMed/29423104" } ] }, { "title": "Germline polymorphism of interferon-lambda3 is clinically associated with progression of renal cell carcinoma.", "journal": "Oncotarget", "date": "2018-01-09", "authors": "Nukui Akinori, Yanai Yoshiaki, Tsuzuki Toyonori, Abe Hideyuki, Arai Kyoko, Yoshida Ken-Ichiro, Kamai Takao", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29423114", "url": "https://glygen.org/publication/PubMed/29423114" } ] }, { "title": "Protein translation, proteolysis and autophagy in human skeletal muscle atrophy after spinal cord injury.", "journal": "Acta physiologica (Oxford, England)", "date": "2018", "authors": "Lundell LS, Savikj M, Kostovski E, Iversen PO, Zierath JR, Krook A, Chibalin AV, Widegren U", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29423932", "url": "https://glygen.org/publication/PubMed/29423932" } ] }, { "title": "Preclinical evaluation and reverse phase protein Array-based profiling of PI3K and MEK inhibitors in endometrial carcinoma in vitro.", "journal": "BMC cancer", "date": "2018", "authors": "Aslan O, Cremona M, Morgan C, Cheung LW, Mills GB, Hennessy BT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29426295", "url": "https://glygen.org/publication/PubMed/29426295" } ] }, { "title": "LAMB3 mediates metastatic tumor behavior in papillary thyroid cancer by regulating c-MET/Akt signals.", "journal": "Scientific reports", "date": "2018", "authors": "Jung SN, Lim HS, Liu L, Chang JW, Lim YC, Rha KS, Koo BS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29426928", "url": "https://glygen.org/publication/PubMed/29426928" } ] }, { "title": "Association of cytosolic sialidase Neu2 with plasma membrane enhances Fas-mediated apoptosis by impairing PI3K-Akt/mTOR-mediated pathway in pancreatic cancer cells.", "journal": "Cell death & disease", "date": "2018", "authors": "Nath S, Mandal C, Chatterjee U, Mandal C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29434218", "url": "https://glygen.org/publication/PubMed/29434218" } ] }, { "title": "Streptomyces sp metabolite(s) promotes Bax mediated intrinsic apoptosis and autophagy involving inhibition of mTOR pathway in cervical cancer cell lines.", "journal": "Scientific reports", "date": "2018", "authors": "Dan VM, Muralikrishnan B, Sanawar R, J S V, Burkul BB, Srinivas KP, Lekshmi A, Pradeep NS, Dastager SG, Santhakumari B, Santhoshkumar TR, Kumar RA, Pillai MR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29434241", "url": "https://glygen.org/publication/PubMed/29434241" } ] }, { "title": "Increased Interleukin-23 in Hashimoto's Thyroiditis Disease Induces Autophagy Suppression and Reactive Oxygen Species Accumulation.", "journal": "Frontiers in immunology", "date": "2018", "authors": "Zheng T, Xu C, Mao C, Mou X, Wu F, Wang X, Bu L, Zhou Y, Luo X, Lu Q, Liu H, Yuan G, Wang S, Chen D, Xiao Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29434604", "url": "https://glygen.org/publication/PubMed/29434604" } ] }, { "title": "20(S)-Protopanaxadiol induces apoptosis in human hepatoblastoma HepG2 cells by downregulating the protein kinase B signaling pathway.", "journal": "Experimental and therapeutic medicine", "date": "2018", "authors": "Lu Z, Xu H, Yu X, Wang Y, Huang L, Jin X, Sui D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29434714", "url": "https://glygen.org/publication/PubMed/29434714" } ] }, { "title": "Autophagy activation promotes bevacizumab resistance in glioblastoma by suppressing Akt/mTOR signaling pathway.", "journal": "Oncology letters", "date": "2018", "authors": "Huang H, Song J, Liu Z, Pan L, Xu G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29434840", "url": "https://glygen.org/publication/PubMed/29434840" } ] }, { "title": "Overexpression of Na(+)/Mg(2+) exchanger SLC41A1 attenuates pro-survival signaling.", "journal": "Oncotarget", "date": "2018", "authors": "Sponder G, Abdulhanan N, Frohlich N, Mastrototaro L, Aschenbach JR, Rontgen M, Pilchova I, Cibulka M, Racay P, Kolisek M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29435164", "url": "https://glygen.org/publication/PubMed/29435164" } ] }, { "title": "Akt Protein Kinase, miR-200/miR-182 Expression and Epithelial-Mesenchymal Transition Proteins in Hibernating Ground Squirrels.", "journal": "Frontiers in molecular neuroscience", "date": "2018", "authors": "Lee Yang-Ja, Bernstock Joshua D, Klimanis Dace, Hallenbeck John M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29440989", "url": "https://glygen.org/publication/PubMed/29440989" } ] }, { "title": "Elevated intracellular cAMP exacerbates vulnerability to oxidative stress in optic nerve head astrocytes.", "journal": "Cell death & disease", "date": "2018", "authors": "Shim MS, Kim KY, Bu JH, Nam HS, Jeong SW, Park TL, Ellisman MH, Weinreb RN, Ju WK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29459737", "url": "https://glygen.org/publication/PubMed/29459737" } ] }, { "title": "Galanin is an epigenetically silenced tumor suppressor gene in gastric cancer cells.", "journal": "PloS one", "date": "2018", "authors": "Yoon D, Bae K, Lee MK, Kim JH, Yoon KA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29462183", "url": "https://glygen.org/publication/PubMed/29462183" } ] }, { "title": "An FGFR3/MYC positive feedback loop provides new opportunities for targeted therapies in bladder cancers.", "journal": "EMBO molecular medicine", "date": "2018", "authors": "Mahe M, Dufour F, Neyret-Kahn H, Moreno-Vega A, Beraud C, Shi M, Hamaidi I, Sanchez-Quiles V, Krucker C, Dorland-Galliot M, Chapeaublanc E, Nicolle R, Lang H, Pouponnot C, Massfelder T, Radvanyi F, Bernard-Pierrot I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29463565", "url": "https://glygen.org/publication/PubMed/29463565" } ] }, { "title": "Shikonin exerts antitumor activity in Burkitt's lymphoma by inhibiting C-MYC and PI3K/AKT/mTOR pathway and acts synergistically with doxorubicin.", "journal": "Scientific reports", "date": "2018", "authors": "Ni F, Huang X, Chen Z, Qian W, Tong X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29463831", "url": "https://glygen.org/publication/PubMed/29463831" } ] }, { "title": "A-674563, a putative AKT1 inhibitor that also suppresses CDK2 activity, inhibits human NSCLC cell growth more effectively than the pan-AKT inhibitor, MK-2206.", "journal": "PloS one", "date": "2018", "authors": "Chorner PM, Moorehead RA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29470540", "url": "https://glygen.org/publication/PubMed/29470540" } ] }, { "title": "Activated CXCL5-CXCR2 axis promotes the migration, invasion and EMT of papillary thyroid carcinoma cells via modulation of beta-catenin pathway.", "journal": "Biochimie", "date": "2018", "authors": "Cui D, Zhao Y, Xu J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29471001", "url": "https://glygen.org/publication/PubMed/29471001" } ] }, { "title": "HLA Class II-Triggered Signaling Cascades Cause Endothelial Cell Proliferation and Migration: Relevance to Antibody-Mediated Transplant Rejection.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2018-04-01", "authors": "Jin Yi-Ping, Valenzuela Nicole M, Zhang Xiaohai, Rozengurt Enrique, Reed Elaine F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29475988", "url": "https://glygen.org/publication/PubMed/29475988" } ] }, { "title": "Phosphorylation of AKT and ERK1/2 and mutations of PIK3CA and PTEN are predictive of breast cancer cell sensitivity to everolimus in vitro.", "journal": "Cancer chemotherapy and pharmacology", "date": "2018-04", "authors": "Citi Valentina, Del Re Marzia, Martelli Alma, Calderone Vincenzo, Breschi Maria Cristina, Danesi Romano", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29476223", "url": "https://glygen.org/publication/PubMed/29476223" } ] }, { "title": "Effects of platelet-rich plasma on the activity of human menstrual blood-derived stromal cells in vitro.", "journal": "Stem cell research & therapy", "date": "2018", "authors": "Zhang S, Li P, Yuan Z, Tan J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29482651", "url": "https://glygen.org/publication/PubMed/29482651" } ] }, { "title": "Dual targeting of mitochondrial function and mTOR pathway as a therapeutic strategy for diffuse intrinsic pontine glioma.", "journal": "Oncotarget", "date": "2018", "authors": "Tsoli M, Liu J, Franshaw L, Shen H, Cheng C, Jung M, Joshi S, Ehteda A, Khan A, Montero-Carcabosso A, Dilda PJ, Hogg P, Ziegler DS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29484131", "url": "https://glygen.org/publication/PubMed/29484131" } ] }, { "title": "Dioscin inhibits stem-cell-like properties and tumor growth of osteosarcoma through Akt/GSK3/beta-catenin signaling pathway.", "journal": "Cell death & disease", "date": "2018", "authors": "Liu W, Zhao Z, Wang Y, Li W, Su Q, Jia Q, Zhang J, Zhang X, Shen J, Yin J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29497056", "url": "https://glygen.org/publication/PubMed/29497056" } ] }, { "title": "Cardiomyocyte hypertrophy induced by Endonuclease G deficiency requires reactive oxygen radicals accumulation and is inhibitable by the micropeptide humanin.", "journal": "Redox biology", "date": "2018", "authors": "Blasco N, Camara Y, Nunez E, Bea A, Bares G, Forne C, Ruiz-Meana M, Giron C, Barba I, Garcia-Arumi E, Garcia-Dorado D, Vazquez J, Marti R, Llovera M, Sanchis D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29502044", "url": "https://glygen.org/publication/PubMed/29502044" } ] }, { "title": "AKT1 restricts the invasive capacity of head and neck carcinoma cells harboring a constitutively active PI3 kinase activity.", "journal": "BMC cancer", "date": "2018", "authors": "Brolih S, Parks SK, Vial V, Durivault J, Mostosi L, Pouyssegur J, Pages G, Picco V", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29506489", "url": "https://glygen.org/publication/PubMed/29506489" } ] }, { "title": "Estrogen receptor alpha drives mTORC1 inhibitor-induced feedback activation of PI3K/AKT in ER+ breast cancer.", "journal": "Oncotarget", "date": "2018", "authors": "Yang W, Schwartz GN, Marotti JD, Chen V, Traphagen NA, Gui J, Miller TW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29507656", "url": "https://glygen.org/publication/PubMed/29507656" } ] }, { "title": "FLT3-ITD induces expression of Pim kinases through STAT5 to confer resistance to the PI3K/Akt pathway inhibitors on leukemic cells by enhancing the mTORC1/Mcl-1 pathway.", "journal": "Oncotarget", "date": "2018", "authors": "Okada K, Nogami A, Ishida S, Akiyama H, Chen C, Umezawa Y, Miura O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29507660", "url": "https://glygen.org/publication/PubMed/29507660" } ] }, { "title": "The hypoxic tumor microenvironment in vivo selects the cancer stem cell fate of breast cancer cells.", "journal": "Breast cancer research : BCR", "date": "2018-03-06", "authors": "Kim Hoon, Lin Qun, Glazer Peter M, Yun Zhong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29510720", "url": "https://glygen.org/publication/PubMed/29510720" } ] }, { "title": "GABAB receptor regulates proliferation in the high-grade chondrosarcoma cell line OUMS-27 via apoptotic pathways.", "journal": "BMC cancer", "date": "2018", "authors": "Kanbara K, Otsuki Y, Watanabe M, Yokoe S, Mori Y, Asahi M, Neo M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29514603", "url": "https://glygen.org/publication/PubMed/29514603" } ] }, { "title": "CRLF1 promotes malignant phenotypes of papillary thyroid carcinoma by activating the MAPK/ERK and PI3K/AKT pathways.", "journal": "Cell death & disease", "date": "2018", "authors": "Yu ST, Zhong Q, Chen RH, Han P, Li SB, Zhang H, Yuan L, Xia TL, Zeng MS, Huang XM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29515111", "url": "https://glygen.org/publication/PubMed/29515111" } ] }, { "title": "Dual inhibition of AKT-mTOR and AR signaling by targeting HDAC3 in PTEN- or SPOP-mutated prostate cancer.", "journal": "EMBO molecular medicine", "date": "2018", "authors": "Yan Y, An J, Yang Y, Wu D, Bai Y, Cao W, Ma L, Chen J, Yu Z, He Y, Jin X, Pan Y, Ma T, Wang S, Hou X, Weroha SJ, Karnes RJ, Zhang J, Westendorf JJ, Wang L, Chen Y, Xu W, Zhu R, Wang D, Huang H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29523594", "url": "https://glygen.org/publication/PubMed/29523594" } ] }, { "title": "High-density lipoprotein protects cardiomyocytes against necrosis induced by oxygen and glucose deprivation through SR-B1, PI3K, and AKT1 and 2.", "journal": "The Biochemical journal", "date": "2018", "authors": "Durham KK, Chathely KM, Trigatti BL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29523748", "url": "https://glygen.org/publication/PubMed/29523748" } ] }, { "title": "Maternal Selenium Supplementation Enhanced Skeletal Muscle Development Through Increasing Protein Synthesis and SelW mRNA Levels of their Offspring.", "journal": "Biological trace element research", "date": "2018-11", "authors": "Gao Jing, Nie Wei, Wang Fenglai, Guo Yuming", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29524195", "url": "https://glygen.org/publication/PubMed/29524195" } ] }, { "title": "Liraglutide, a human glucagon-like peptide-1 analogue, stimulates AKT-dependent survival signalling and inhibits pancreatic beta-cell apoptosis.", "journal": "Journal of cellular and molecular medicine", "date": "2018", "authors": "Kapodistria K, Tsilibary EP, Kotsopoulou E, Moustardas P, Kitsiou P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29524296", "url": "https://glygen.org/publication/PubMed/29524296" } ] }, { "title": "Traditional Chinese Medicine CFF-1 induced cell growth inhibition, autophagy, and apoptosis via inhibiting EGFR-related pathways in prostate cancer.", "journal": "Cancer medicine", "date": "2018", "authors": "Wu Z, Zhu Q, Yin Y, Kang D, Cao R, Tian Q, Zhang Y, Lu S, Liu P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29533017", "url": "https://glygen.org/publication/PubMed/29533017" } ] }, { "title": "NVP-BEZ235 synergizes cisplatin sensitivity in osteosarcoma.", "journal": "Oncotarget", "date": "2018", "authors": "Huang JC, Cui ZF, Chen SM, Yang LJ, Lian HK, Liu B, Su ZH, Liu JS, Wang M, Hu ZB, Ouyang JY, Li QC, Lu H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29535821", "url": "https://glygen.org/publication/PubMed/29535821" } ] }, { "title": "CDK5RAP3 suppresses Wnt/beta-catenin signaling by inhibiting AKT phosphorylation in gastric cancer.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2018", "authors": "Zheng CH, Wang JB, Lin MQ, Zhang PY, Liu LC, Lin JX, Lu J, Chen QY, Cao LL, Lin M, Tu RH, Xie JW, Li P, Huang CM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29540196", "url": "https://glygen.org/publication/PubMed/29540196" } ] }, { "title": "Identification of protein phosphatase involvement in the AT2 receptor-induced activation of endothelial nitric oxide synthase.", "journal": "Clinical science (London, England : 1979)", "date": "2018", "authors": "Peluso AA, Bertelsen JB, Andersen K, Mortsensen TP, Hansen PB, Sumners C, Bader M, Santos RA, Steckelings UM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29540539", "url": "https://glygen.org/publication/PubMed/29540539" } ] }, { "title": "In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).", "journal": "Neurogenetics", "date": "2018", "authors": "Ranieri C, Di Tommaso S, Loconte DC, Grossi V, Sanese P, Bagnulo R, Susca FC, Forte G, Peserico A, De Luisi A, Bartuli A, Selicorni A, Melis D, Lerone M, Pratico AD, Abbadessa G, Yu Y, Schwartz B, Ruggieri M, Simone C, Resta N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29549527", "url": "https://glygen.org/publication/PubMed/29549527" } ] }, { "title": "EGCG inhibited bladder cancer T24 and 5637 cell proliferation and migration via PI3K/AKT pathway.", "journal": "Oncotarget", "date": "2018", "authors": "Luo KW, Lung WY, Chun-Xie, Luo XL, Huang WR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29552308", "url": "https://glygen.org/publication/PubMed/29552308" } ] }, { "title": "SC79 protects dopaminergic neurons from oxidative stress.", "journal": "Oncotarget", "date": "2018", "authors": "Xu Y, Gao YW, Yang Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29560097", "url": "https://glygen.org/publication/PubMed/29560097" } ] }, { "title": "GSK-3beta-mediated regulation of cadmium-induced cell death and survival.", "journal": "Cellular & molecular biology letters", "date": "2018", "authors": "Kim S, Cheon H, Kim SM, Kim YY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29563926", "url": "https://glygen.org/publication/PubMed/29563926" } ] }, { "title": "Induction of chemokine (C-C motif) ligand 5 by Epstein-Barr virus infection enhances tumor angiogenesis in nasopharyngeal carcinoma.", "journal": "Cancer science", "date": "2018-05", "authors": "Ma Wenlong, Feng Lin, Zhang Shanshan, Zhang Haojiong, Zhang Xiao, Qi Xuekang, Zhang Yuchen, Feng Qisheng, Xiang Tong, Zeng Yi-Xin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29569795", "url": "https://glygen.org/publication/PubMed/29569795" } ] }, { "title": "St. John's Wort Regulates Proliferation and Apoptosis in MCF-7 Human Breast Cancer Cells by Inhibiting AMPK/mTOR and Activating the Mitochondrial Pathway.", "journal": "International journal of molecular sciences", "date": "2018", "authors": "You MK, Kim HJ, Kook JH, Kim HA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29570671", "url": "https://glygen.org/publication/PubMed/29570671" } ] }, { "title": "Urinary bladder organ hypertrophy is partially regulated by Akt1-mediated protein synthesis pathway.", "journal": "Life sciences", "date": "2018", "authors": "Qiao LY, Xia C, Shen S, Lee SH, Ratz PH, Fraser MO, Miner A, Speich JE, Lysiak JJ, Steers WD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29572181", "url": "https://glygen.org/publication/PubMed/29572181" } ] }, { "title": "Large Intergenic Non-coding RNA-RoR Inhibits Aerobic Glycolysis of Glioblastoma Cells via Akt Pathway.", "journal": "Journal of Cancer", "date": "2018", "authors": "Li Y, He ZC, Liu Q, Zhou K, Shi Y, Yao XH, Zhang X, Kung HF, Ping YF, Bian XW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29581766", "url": "https://glygen.org/publication/PubMed/29581766" } ] }, { "title": "Inhibitory Effect of Kurarinone on Growth of Human Non-small Cell Lung Cancer: An Experimental Study Both in Vitro and in Vivo Studies.", "journal": "Frontiers in pharmacology", "date": "2018", "authors": "Yang J, Chen H, Wang Q, Deng S, Huang M, Ma X, Song P, Du J, Huang Y, Wen Y, Ren Y, Yang X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29628889", "url": "https://glygen.org/publication/PubMed/29628889" } ] }, { "title": "Conformational sampling of membranes by Akt controls its activation and inactivation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Lucic I, Rathinaswamy MK, Truebestein L, Hamelin DJ, Burke JE, Leonard TA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29632185", "url": "https://glygen.org/publication/PubMed/29632185" } ] }, { "title": "MiR-30a-5p confers cisplatin resistance by regulating IGF1R expression in melanoma cells.", "journal": "BMC cancer", "date": "2018-04-11", "authors": "Li Yuxia, Zhang Jie, Liu Yajing, Zhang Bingyue, Zhong Fubo, Wang Shubin, Fang Zhengyu", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29642855", "url": "https://glygen.org/publication/PubMed/29642855" } ] }, { "title": "Counteracting Akt Activation by HIV Protease Inhibitors in Monocytes/Macrophages.", "journal": "Viruses", "date": "2018-04-13", "authors": "Pasquereau S\u00e9bastien, Kumar Amit, Abbas Wasim, Herbein Georges", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29652795", "url": "https://glygen.org/publication/PubMed/29652795" } ] }, { "title": "Vav1 downmodulates Akt in different breast cancer subtypes: a new promising chance to improve breast cancer outcome.", "journal": "Molecular oncology", "date": "2018", "authors": "Grassilli S, Brugnoli F, Lattanzio R, Marchisio M, Perracchio L, Piantelli M, Bavelloni A, Capitani S, Bertagnolo V", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29658179", "url": "https://glygen.org/publication/PubMed/29658179" } ] }, { "title": "Store operated calcium entry is altered by the inhibition of receptors tyrosine kinase.", "journal": "Oncotarget", "date": "2018", "authors": "Emeriau N, de Clippele M, Gailly P, Tajeddine N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29662626", "url": "https://glygen.org/publication/PubMed/29662626" } ] }, { "title": "PHAP1 promotes glioma cell proliferation by regulating the Akt/p27/stathmin pathway.", "journal": "Journal of cellular and molecular medicine", "date": "2018", "authors": "Xie M, Ji Z, Bao Y, Zhu Y, Xu Y, Wang L, Gao S, Liu Z, Tian Z, Meng Q, Shi H, Yu R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29667783", "url": "https://glygen.org/publication/PubMed/29667783" } ] }, { "title": "UVA Irradiation Enhances Brusatol-Mediated Inhibition of Melanoma Growth by Downregulation of the Nrf2-Mediated Antioxidant Response.", "journal": "Oxidative medicine and cellular longevity", "date": "2018", "authors": "Wang M, Shi G, Bian C, Nisar MF, Guo Y, Wu Y, Li W, Huang X, Jiang X, Bartsch JW, Ji P, Zhong JL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29670684", "url": "https://glygen.org/publication/PubMed/29670684" } ] }, { "title": "Acute Hyperthermia Inhibits TGF-beta1-induced Cardiac Fibroblast Activation via Suppression of Akt Signaling.", "journal": "Scientific reports", "date": "2018", "authors": "Narikawa M, Umemura M, Tanaka R, Fujita T, Yokoyama U, Ishigami T, Kimura K, Tamura K, Ishikawa Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29674727", "url": "https://glygen.org/publication/PubMed/29674727" } ] }, { "title": "PP242 Counteracts Glioblastoma Cell Proliferation, Migration, Invasiveness and Stemness Properties by Inhibiting mTORC2/AKT.", "journal": "Frontiers in cellular neuroscience", "date": "2018", "authors": "Mecca C, Giambanco I, Bruscoli S, Bereshchenko O, Fioretti B, Riccardi C, Donato R, Arcuri C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29692710", "url": "https://glygen.org/publication/PubMed/29692710" } ] }, { "title": "Human adipose tissue protein analyses using capillary western blot technology.", "journal": "Nutrition & diabetes", "date": "2018", "authors": "Lu J, Allred CC, Jensen MD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29695704", "url": "https://glygen.org/publication/PubMed/29695704" } ] }, { "title": "CIP2A- and SETBP1-mediated PP2A inhibition reveals AKT S473 phosphorylation to be a new biomarker in AML.", "journal": "Blood advances", "date": "2018", "authors": "Lucas CM, Scott LJ, Carmell N, Holcroft AK, Hills RK, Burnett AK, Clark RE", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29703716", "url": "https://glygen.org/publication/PubMed/29703716" } ] }, { "title": "PIK3CA mutation, reduced AKT serine 473 phosphorylation, and increased ERalpha serine 167 phosphorylation are positive prognostic indicators in postmenopausal estrogen receptor-positive early breast cancer.", "journal": "Oncotarget", "date": "2018", "authors": "Ishida N, Baba M, Hatanaka Y, Hagio K, Okada H, Hatanaka KC, Togashi K, Matsuno Y, Yamashita H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29707142", "url": "https://glygen.org/publication/PubMed/29707142" } ] }, { "title": "PEST-containing nuclear protein mediates the proliferation, migration, and invasion of human neuroblastoma cells through MAPK and PI3K/AKT/mTOR signaling pathways.", "journal": "BMC cancer", "date": "2018", "authors": "Wu DD, Gao YR, Li T, Wang DY, Lu D, Liu SY, Hong Y, Ning HB, Liu JP, Shang J, Shi JF, Wei JS, Ji XY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29716528", "url": "https://glygen.org/publication/PubMed/29716528" } ] }, { "title": "Hydrostatic pressure suppresses fibrotic changes via Akt/GSK-3 signaling in human cardiac fibroblasts.", "journal": "Physiological reports", "date": "2018-05", "authors": "Tanaka Ryo, Umemura Masanari, Narikawa Masatoshi, Fujita Takayuki, Yokoyama Utako, Ishigami Tomoaki, Kimura Kazuo, Tamura Kouichi, Ishikawa Yoshihiro", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29722156", "url": "https://glygen.org/publication/PubMed/29722156" } ] }, { "title": "An aqueous extract of the Anogeissus leiocarpus bark (AEAL) induces the endothelium-dependent relaxation of porcine coronary artery rings involving predominantly nitric oxide.", "journal": "Journal of basic and clinical physiology and pharmacology", "date": "2018", "authors": "Belemnaba L, Ouedraogo S, Nitiema M, Chataigneau T, Guissou IP, Schini-Kerth VB, Bucher B, Auger C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29723154", "url": "https://glygen.org/publication/PubMed/29723154" } ] }, { "title": "Glaucocalyxin A induces G2/M cell cycle arrest and apoptosis through the PI3K/Akt pathway in human bladder cancer cells.", "journal": "International journal of biological sciences", "date": "2018", "authors": "Lin W, Xie J, Xu N, Huang L, Xu A, Li H, Li C, Gao Y, Watanabe M, Liu C, Huang P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29725263", "url": "https://glygen.org/publication/PubMed/29725263" } ] }, { "title": "Matrix stiffness-upregulated LOXL2 promotes fibronectin production, MMP9 and CXCL12 expression and BMDCs recruitment to assist pre-metastatic niche formation.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2018", "authors": "Wu S, Zheng Q, Xing X, Dong Y, Wang Y, You Y, Chen R, Hu C, Chen J, Gao D, Zhao Y, Wang Z, Xue T, Ren Z, Cui J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29728125", "url": "https://glygen.org/publication/PubMed/29728125" } ] }, { "title": "Roles of GalNAc-disialyl Lactotetraosyl Antigens in Renal Cancer Cells.", "journal": "Scientific reports", "date": "2018", "authors": "Tsuchida A, Senda M, Ito A, Saito S, Kiso M, Ando T, Harduin-Lepers A, Matsuda A, Furukawa K, Furukawa K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29728594", "url": "https://glygen.org/publication/PubMed/29728594" } ] }, { "title": "HSPC159 promotes proliferation and metastasis by inducing epithelial-mesenchymal transition and activating the PI3K/Akt pathway in breast cancer.", "journal": "Cancer science", "date": "2018", "authors": "Zheng J, Zhang M, Zhang L, Ding X, Li W, Lu S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29737572", "url": "https://glygen.org/publication/PubMed/29737572" } ] }, { "title": "Formyl Peptide Receptor 1 Modulates Endothelial Cell Functions by NADPH Oxidase-Dependent VEGFR2 Transactivation.", "journal": "Oxidative medicine and cellular longevity", "date": "2018", "authors": "Cattaneo F, Castaldo M, Parisi M, Faraonio R, Esposito G, Ammendola R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29743977", "url": "https://glygen.org/publication/PubMed/29743977" } ] }, { "title": "P2RX7-MAPK1/2-SP1 axis inhibits MTOR independent HSPB1-mediated astroglial autophagy.", "journal": "Cell death & disease", "date": "2018", "authors": "Kim JE, Ko AR, Hyun HW, Min SJ, Kang TC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29749377", "url": "https://glygen.org/publication/PubMed/29749377" } ] }, { "title": "Roles of methyltrienolone (R1881) in AKTs and AR expression patterns of cultured granulosa-lutein cells.", "journal": "Journal of cellular biochemistry", "date": "2018", "authors": "Nekoonam S, Naji M, Mortezaee K, Amidi F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29749659", "url": "https://glygen.org/publication/PubMed/29749659" } ] }, { "title": "Targeting TWIST1 through loss of function inhibits tumorigenicity of human glioblastoma.", "journal": "Molecular oncology", "date": "2018", "authors": "Mikheev AM, Mikheeva SA, Severs LJ, Funk CC, Huang L, McFaline-Figueroa JL, Schwensen J, Trapnell C, Price ND, Wong S, Rostomily RC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29754406", "url": "https://glygen.org/publication/PubMed/29754406" } ] }, { "title": "Inhibition of mTOR complex 2 restrains tumor angiogenesis in multiple myeloma.", "journal": "Oncotarget", "date": "2018", "authors": "Lamanuzzi A, Saltarella I, Desantis V, Frassanito MA, Leone P, Racanelli V, Nico B, Ribatti D, Ditonno P, Prete M, Solimando AG, Dammacco F, Vacca A, Ria R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29755672", "url": "https://glygen.org/publication/PubMed/29755672" } ] }, { "title": "Melatonin Analogue Antiproliferative and Cytotoxic Effects on Human Prostate Cancer Cells.", "journal": "International journal of molecular sciences", "date": "2018", "authors": "Calastretti A, Gatti G, Lucini V, Dugnani S, Canti G, Scaglione F, Bevilacqua A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29783631", "url": "https://glygen.org/publication/PubMed/29783631" } ] }, { "title": "The Long Non-Coding RNA RP5-1024C24.1 and Its Associated-Gene MPPED2 Are Down-Regulated in Human Thyroid Neoplasias and Act as Tumour Suppressors.", "journal": "Cancers", "date": "2018", "authors": "Sepe R, Pellecchia S, Serra P, D'Angelo D, Federico A, Raia M, Cortez Cardoso Penha R, Decaussin-Petrucci M, Del Vecchio L, Fusco A, Pallante P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29783666", "url": "https://glygen.org/publication/PubMed/29783666" } ] }, { "title": "E3 ubiquitin ligase Hakai regulates cell growth and invasion, and increases the chemosensitivity to cisplatin in nonsmallcell lung cancer cells.", "journal": "International journal of molecular medicine", "date": "2018", "authors": "Liu Z, Wu Y, Tao Z, Ma L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29786107", "url": "https://glygen.org/publication/PubMed/29786107" } ] }, { "title": "Dopamine Receptor Subtypes Differentially Regulate Autophagy.", "journal": "International journal of molecular sciences", "date": "2018", "authors": "Wang D, Ji X, Liu J, Li Z, Zhang X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29786666", "url": "https://glygen.org/publication/PubMed/29786666" } ] }, { "title": "Dysregulation of the MiR-449b target TGFBI alters the TGFbeta pathway to induce cisplatin resistance in nasopharyngeal carcinoma.", "journal": "Oncogenesis", "date": "2018", "authors": "Bissey PA, Law JH, Bruce JP, Shi W, Renoult A, Chua MLK, Yip KW, Liu FF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29795279", "url": "https://glygen.org/publication/PubMed/29795279" } ] }, { "title": "Retinoic acid-induced 2 (RAI2) is a novel tumor suppressor, and promoter region methylation of RAI2 is a poor prognostic marker in colorectal cancer.", "journal": "Clinical epigenetics", "date": "2018", "authors": "Yan W, Wu K, Herman JG, Xu X, Yang Y, Dai G, Guo M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29796120", "url": "https://glygen.org/publication/PubMed/29796120" } ] }, { "title": "alpha-Chaconine and alpha-Solanine Inhibit RL95-2 Endometrium Cancer Cell Proliferation by Reducing Expression of Akt (Ser473) and ERalpha (Ser167).", "journal": "Nutrients", "date": "2018", "authors": "Karaboga Arslan AK, Yerer MB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29799481", "url": "https://glygen.org/publication/PubMed/29799481" } ] }, { "title": "Comprehensive analysis of T cell leukemia signals reveals heterogeneity in the PI3 kinase-Akt pathway and limitations of PI3 kinase inhibitors as monotherapy.", "journal": "PloS one", "date": "2018", "authors": "Ksionda O, Mues M, Wandler AM, Donker L, Tenhagen M, Jun J, Ducker GS, Matlawska-Wasowska K, Shannon K, Shokat KM, Roose JP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29799846", "url": "https://glygen.org/publication/PubMed/29799846" } ] }, { "title": "TRIM59 induces epithelial-to-mesenchymal transition and promotes migration and invasion by PI3K/AKT signaling pathway in medulloblastoma.", "journal": "Oncology letters", "date": "2018", "authors": "Gao R, Lv G, Zhang C, Wang X, Chen L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29805559", "url": "https://glygen.org/publication/PubMed/29805559" } ] }, { "title": "TIS21(/BTG2) inhibits breast cancer growth and progression by differential regulation of mTORc1 and mTORc2-AKT1-NFAT1-PHLPP2 signaling axis.", "journal": "Journal of cancer research and clinical oncology", "date": "2018", "authors": "Sundaramoorthy S, Devanand P, Ryu MS, Song KY, Noh DY, Lim IK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29808317", "url": "https://glygen.org/publication/PubMed/29808317" } ] }, { "title": "Transcription factor KLF13 inhibits AKT activation and suppresses the growth of prostate carcinoma cells.", "journal": "Cancer biomarkers : section A of Disease markers", "date": "2018", "authors": "Wang Q, Peng R, Wang B, Wang J, Yu W, Liu Y, Shi G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29843216", "url": "https://glygen.org/publication/PubMed/29843216" } ] }, { "title": "WAVE3 promotes proliferation, migration and invasion via the AKT pathway in pancreatic cancer.", "journal": "International journal of oncology", "date": "2018", "authors": "Huang S, Huang C, Chen W, Liu Y, Yin X, Lai J, Liang L, Wang Q, Wang A, Zheng C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29845225", "url": "https://glygen.org/publication/PubMed/29845225" } ] }, { "title": "Dual mTOR/PI3K inhibitor NVPBEZ235 arrests colorectal cancer cell growth and displays differential inhibition of 4EBP1.", "journal": "Oncology reports", "date": "2018", "authors": "Alqurashi N, Hashimi SM, Alowaidi F, Ivanovski S, Wei MQ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29845289", "url": "https://glygen.org/publication/PubMed/29845289" } ] }, { "title": "NEDD4-induced degradative ubiquitination of phosphatidylinositol 4-phosphate 5-kinase alpha and its implication in breast cancer cell proliferation.", "journal": "Journal of cellular and molecular medicine", "date": "2018", "authors": "Tran MH, Seo E, Min S, Nguyen QT, Choi J, Lee UJ, Hong SS, Kang H, Mansukhani A, Jou I, Lee SY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29851245", "url": "https://glygen.org/publication/PubMed/29851245" } ] }, { "title": "PHLDA2 is a key oncogene-induced negative feedback inhibitor of EGFR/ErbB2 signaling via interference with AKT signaling.", "journal": "Oncotarget", "date": "2018", "authors": "Wang X, Li G, Koul S, Ohki R, Maurer M, Borczuk A, Halmos B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29861842", "url": "https://glygen.org/publication/PubMed/29861842" } ] }, { "title": "Decreased expression of ARHGAP15 promotes the development of colorectal cancer through PTEN/AKT/FOXO1 axis.", "journal": "Cell death & disease", "date": "2018", "authors": "Pan S, Deng Y, Fu J, Zhang Y, Zhang Z, Ru X, Qin X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29867200", "url": "https://glygen.org/publication/PubMed/29867200" } ] }, { "title": "Functional characterization of lysosomal interaction of Akt with VRK2.", "journal": "Oncogene", "date": "2018", "authors": "Hirata N, Suizu F, Matsuda-Lennikov M, Tanaka T, Edamura T, Ishigaki S, Donia T, Lithanatudom P, Obuse C, Iwanaga T, Noguchi M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29872222", "url": "https://glygen.org/publication/PubMed/29872222" } ] }, { "title": "ERK 1/2 Activation Mediates the Neuroprotective Effect of BpV(pic) in Focal Cerebral Ischemia-Reperfusion Injury.", "journal": "Neurochemical research", "date": "2018", "authors": "Liu R, Tang JC, Pan MX, Zhuang Y, Zhang Y, Liao HB, Zhao D, Lei Y, Lei RX, Wang S, Liu AC, Qin XP, Chen J, Zhang ZF, Wan Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29882124", "url": "https://glygen.org/publication/PubMed/29882124" } ] }, { "title": "Inflammation-induced mTORC2-Akt-mTORC1 signaling promotes macrophage foam cell formation.", "journal": "Biochimie", "date": "2018", "authors": "Banerjee D, Sinha A, Saikia S, Gogoi B, Rathore AK, Das AS, Pal D, Buragohain AK, Dasgupta S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29883748", "url": "https://glygen.org/publication/PubMed/29883748" } ] }, { "title": "Computer Simulation of TSP1 Inhibition of VEGF-Akt-eNOS: An Angiogenesis Triple Threat.", "journal": "Frontiers in physiology", "date": "2018", "authors": "Bazzazi H, Zhang Y, Jafarnejad M, Isenberg JS, Annex BH, Popel AS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29899706", "url": "https://glygen.org/publication/PubMed/29899706" } ] }, { "title": "MIF protects against oxygen-glucose deprivation-induced ototoxicity in HEI-OC1 cochlear cells by enhancement of Akt-Nrf2-HO-1 pathway.", "journal": "Biochemical and biophysical research communications", "date": "2018", "authors": "Zhu WY, Jin X, Ma YC, Liu ZB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29908183", "url": "https://glygen.org/publication/PubMed/29908183" } ] }, { "title": "CHIP functions as an oncogene by promoting colorectal cancer metastasis via activation of MAPK and AKT signaling and suppression of E-cadherin.", "journal": "Journal of translational medicine", "date": "2018", "authors": "Xu J, Zhou J, Dai H, Liu F, Li W, Wang W, Guo F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29921293", "url": "https://glygen.org/publication/PubMed/29921293" } ] }, { "title": "Ablation of MCM10 using CRISPR/Cas9 restrains the growth and migration of esophageal squamous cell carcinoma cells through inhibition of Akt signaling.", "journal": "OncoTargets and therapy", "date": "2018", "authors": "Yan Jie, Du Pan, Jia Yongxu, Chang Zhiwei, Gan Silin, Xu Xiaohan, Wang Yaohe, Qin Yanru, Kan Quancheng", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29922071", "url": "https://glygen.org/publication/PubMed/29922071" } ] }, { "title": "Mitoxantrone induces apoptosis in osteosarcoma cells through regulation of the Akt/FOXO3 pathway.", "journal": "Oncology letters", "date": "2018", "authors": "Park SH, Lee J, Kang MA, Jang KY, Kim JR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29928344", "url": "https://glygen.org/publication/PubMed/29928344" } ] }, { "title": "WNK1 kinase and its partners Akt, SGK1 and NBC-family Na(+)/HCO3(-) cotransporters are potential therapeutic targets for glioblastoma stem-like cells linked to Bisacodyl signaling.", "journal": "Oncotarget", "date": "2018", "authors": "Chen W, Zebaze LN, Dong J, Chezeau L, Inquimbert P, Hugel S, Niu S, Bihel F, Boutant E, Real E, Villa P, Junier MP, Chneiweiss H, Hibert M, Haiech J, Kilhoffer MC, Zeniou M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29930759", "url": "https://glygen.org/publication/PubMed/29930759" } ] }, { "title": "Effect of combined inhibition of p110 alpha PI3K isoform and STAT3 pathway in ovarian cancer platinum-based resistance.", "journal": "Oncotarget", "date": "2018", "authors": "Le Naour A, Mevel R, Thibault B, Courtais E, Chantalat E, Delord JP, Couderc B, Guillermet-Guibert J, Martinez A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29930760", "url": "https://glygen.org/publication/PubMed/29930760" } ] }, { "title": "mTORc1 activity is necessary and sufficient for phosphorylation of eNOS(S1177).", "journal": "Physiological reports", "date": "2018", "authors": "Decker B, Pumiglia K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29932504", "url": "https://glygen.org/publication/PubMed/29932504" } ] }, { "title": "Estrogen promotes progression of hormone-dependent breast cancer through CCL2-CCR2 axis by upregulation of Twist via PI3K/AKT/NF-kappaB signaling.", "journal": "Scientific reports", "date": "2018", "authors": "Han R, Gu S, Zhang Y, Luo A, Jing X, Zhao L, Zhao X, Zhang L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29934505", "url": "https://glygen.org/publication/PubMed/29934505" } ] }, { "title": "A quantitative proteomic response of hepatocellular carcinoma Hep3B cells to danusertib, a pan-Aurora kinase inhibitor.", "journal": "Journal of Cancer", "date": "2018", "authors": "Zhu Q, Yu X, Zhou ZW, Luo M, Zhou C, He ZX, Chen Y, Zhou SF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29937924", "url": "https://glygen.org/publication/PubMed/29937924" } ] }, { "title": "Glycolytic metabolism is essential for CCR7 oligomerization and dendritic cell migration.", "journal": "Nature communications", "date": "2018", "authors": "Guak H, Al Habyan S, Ma EH, Aldossary H, Al-Masri M, Won SY, Ying T, Fixman ED, Jones RG, McCaffrey LM, Krawczyk CM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29941886", "url": "https://glygen.org/publication/PubMed/29941886" } ] }, { "title": "OSBP-related protein-2 (ORP2): a novel Akt effector that controls cellular energy metabolism.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2018", "authors": "Kentala H, Koponen A, Vihinen H, Pirhonen J, Liebisch G, Pataj Z, Kivela A, Li S, Karhinen L, Jaaskelainen E, Andrews R, Merilainen L, Matysik S, Ikonen E, Zhou Y, Jokitalo E, Olkkonen VM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29947926", "url": "https://glygen.org/publication/PubMed/29947926" } ] }, { "title": "BAG3 Protein Is Involved in Endothelial Cell Response to Phenethyl Isothiocyanate.", "journal": "Oxidative medicine and cellular longevity", "date": "2018", "authors": "Franceschelli S, Bruno AP, Festa M, Falco A, Gionti E, d'Avenia M, De Marco M, Basile A, Iorio V, Marzullo L, Rosati A, Pascale M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29955247", "url": "https://glygen.org/publication/PubMed/29955247" } ] }, { "title": "Ursolic acid elicits intrinsic apoptotic machinery by downregulating the phosphorylation of AKT/BAD signaling in human cisplatinresistant oral cancer CAR cells.", "journal": "Oncology reports", "date": "2018", "authors": "Chen CF, Yang JS, Chen WK, Lu CC, Chiang JH, Chiu HY, Tsai SC, Juan YN, Huang HJ, Way TD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29956797", "url": "https://glygen.org/publication/PubMed/29956797" } ] }, { "title": "Ophiopogonin B suppresses the metastasis and angiogenesis of A549 cells in vitro and in vivo by inhibiting the EphA2/Akt signaling pathway.", "journal": "Oncology reports", "date": "2018", "authors": "Chen M, Hu C, Guo Y, Jiang R, Jiang H, Zhou Y, Fu H, Wu M, Zhang X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29956803", "url": "https://glygen.org/publication/PubMed/29956803" } ] }, { "title": "Knockdown of Yin Yang 1 enhances anticancer effects of cisplatin through protein phosphatase 2A-mediated T308 dephosphorylation of AKT.", "journal": "Cell death & disease", "date": "2018-07-03", "authors": "Zhao Lu, Li Ran, Gan Ye-Hua", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29970878", "url": "https://glygen.org/publication/PubMed/29970878" } ] }, { "title": "[Up-regulation of GPR37 promotes the proliferation of human glioma U251 cells].", "journal": "Xi bao yu fen zi mian yi xue za zhi = Chinese journal of cellular and molecular immunology", "date": "2018", "authors": "Zhang Y, Wang L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29973325", "url": "https://glygen.org/publication/PubMed/29973325" } ] }, { "title": "Synthesis and PI 3-Kinase Inhibition Activity of Some Novel 2,4,6-Trisubstituted 1,3,5-Triazines.", "journal": "Molecules (Basel, Switzerland)", "date": "2018", "authors": "Nelson RA Jr, Schronce T, Huang Y, Albugami A, Kulik G, Welker ME", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29973512", "url": "https://glygen.org/publication/PubMed/29973512" } ] }, { "title": "MiR-99b-5p and miR-203a-3p Function as Tumor Suppressors by Targeting IGF-1R in Gastric Cancer.", "journal": "Scientific reports", "date": "2018-07-04", "authors": "Wang Zhenzhen, Zhao Zhenghao, Yang Yang, Luo Mai, Zhang Min, Wang Xiaofei, Liu Liying, Hou Ni, Guo Qingqing, Song Tusheng, Guo Bo, Huang Chen", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29973668", "url": "https://glygen.org/publication/PubMed/29973668" } ] }, { "title": "LIM and SH3 protein 1 regulates cell growth and chemosensitivity of human glioblastoma via the PI3K/AKT pathway.", "journal": "BMC cancer", "date": "2018", "authors": "Zhong C, Chen Y, Tao B, Peng L, Peng T, Yang X, Xia X, Chen L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29980193", "url": "https://glygen.org/publication/PubMed/29980193" } ] }, { "title": "PIK3CA mutations are specifically localized to lymphatic endothelial cells of lymphatic malformations.", "journal": "PloS one", "date": "2018", "authors": "Blesinger H, Kaulfuss S, Aung T, Schwoch S, Prantl L, Rossler J, Wilting J, Becker J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29985963", "url": "https://glygen.org/publication/PubMed/29985963" } ] }, { "title": "Benzimidazoisoquinoline derivatives inhibit glioblastoma cell proliferation through down-regulating Raf/MEK/ERK and PI3K/AKT pathways.", "journal": "Cancer cell international", "date": "2018", "authors": "Zhang YJ, Xu ZG, Li SQ, He LJ, Tang Y, Chen ZZ, Yang DL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29988358", "url": "https://glygen.org/publication/PubMed/29988358" } ] }, { "title": "Loss of tumor suppressor IGFBP4 drives epigenetic reprogramming in hepatic carcinogenesis.", "journal": "Nucleic acids research", "date": "2018", "authors": "Lee YY, Mok MT, Kang W, Yang W, Tang W, Wu F, Xu L, Yan M, Yu Z, Lee SD, Tong JHM, Cheung YS, Lai PBS, Yu DY, Wang Q, Wong GLH, Chan AM, Yip KY, To KF, Cheng ASL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29992318", "url": "https://glygen.org/publication/PubMed/29992318" } ] }, { "title": "A TFEB nuclear export signal integrates amino acid supply and glucose availability.", "journal": "Nature communications", "date": "2018", "authors": "Li L, Friedrichsen HJ, Andrews S, Picaud S, Volpon L, Ngeow K, Berridge G, Fischer R, Borden KLB, Filippakopoulos P, Goding CR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29992949", "url": "https://glygen.org/publication/PubMed/29992949" } ] }, { "title": "Anti-proliferative Effect of 15,16-Dihydrotanshinone I Through Cell Cycle Arrest and the Regulation of AMP-activated Protein Kinase/Akt/mTOR and Mitogen-activated Protein Kinase Signaling Pathway in Human Hepatocellular Carcinoma Cells.", "journal": "Journal of cancer prevention", "date": "2018", "authors": "Hong JY, Park SH, Park HJ, Lee SK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30003065", "url": "https://glygen.org/publication/PubMed/30003065" } ] }, { "title": "AKT isoform-specific expression and activation across cancer lineages.", "journal": "BMC cancer", "date": "2018", "authors": "Wang J, Zhao W, Guo H, Fang Y, Stockman SE, Bai S, Ng PK, Li Y, Yu Q, Lu Y, Jeong KJ, Chen X, Gao M, Liang J, Li W, Tian X, Jonasch E, Mills GB, Ding Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30012111", "url": "https://glygen.org/publication/PubMed/30012111" } ] }, { "title": "Oncogenic Function of a KIF5B-MET Fusion Variant in Non-Small Cell Lung Cancer.", "journal": "Neoplasia (New York, N.Y.)", "date": "2018", "authors": "Gow CH, Liu YN, Li HY, Hsieh MS, Chang SH, Luo SC, Tsai TH, Chen PL, Tsai MF, Shih JY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30015159", "url": "https://glygen.org/publication/PubMed/30015159" } ] }, { "title": "Crosstalk between PKCalpha and PI3K/AKT Signaling Is Tumor Suppressive in the Endometrium.", "journal": "Cell reports", "date": "2018", "authors": "Hsu AH, Lum MA, Shim KS, Frederick PJ, Morrison CD, Chen B, Lele SM, Sheinin YM, Daikoku T, Dey SK, Leone G, Black AR, Black JD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30021163", "url": "https://glygen.org/publication/PubMed/30021163" } ] }, { "title": "AMPK blunts chronic heart failure by inhibiting autophagy.", "journal": "Bioscience reports", "date": "2018", "authors": "Li Y, Wang Y, Zou M, Chen C, Chen Y, Xue R, Dong Y, Liu C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30021848", "url": "https://glygen.org/publication/PubMed/30021848" } ] }, { "title": "The calcium channel proteins ORAI3 and STIM1 mediate TGF-beta induced Snai1 expression.", "journal": "Oncotarget", "date": "2018", "authors": "Bhattacharya A, Kumar J, Hermanson K, Sun Y, Qureshi H, Perley D, Scheidegger A, Singh BB, Dhasarathy A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30034631", "url": "https://glygen.org/publication/PubMed/30034631" } ] }, { "title": "Autophagic cell death associated to Sorafenib in renal cell carcinoma is mediated through Akt inhibition in an ERK1/2 independent fashion.", "journal": "PloS one", "date": "2018", "authors": "Serrano-Oviedo Leticia, Ortega-Muelas Marta, Garc\u00eda-Cano Jes\u00fas, Valero Mar\u00eda Ll, Cimas Francisco J, Pascual-Serra Raquel, Fernandez-Aroca Diego M, Roche Olga, Ruiz-Hidalgo Mar\u00eda J, Belandia Borja, Gim\u00e9nez-Bachs Jos\u00e9 M, Salinas Antonio S, Sanchez-Prieto Ricardo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30048489", "url": "https://glygen.org/publication/PubMed/30048489" } ] }, { "title": "HZ08 suppresses RelB-activated MnSOD expression and enhances Radiosensitivity of prostate Cancer cells.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2018-07-27", "authors": "Zhang Yanyan, Xu Zhi, Ding Jiaji, Tan Chunli, Hu Weizi, Li Yunman, Huang Wenlong, Xu Yong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30053873", "url": "https://glygen.org/publication/PubMed/30053873" } ] }, { "title": "Emodin, Physcion, and Crude Extract of Rhamnus sphaerosperma var. pubescens Induce Mixed Cell Death, Increase in Oxidative Stress, DNA Damage, and Inhibition of AKT in Cervical and Oral Squamous Carcinoma Cell Lines.", "journal": "Oxidative medicine and cellular longevity", "date": "2018", "authors": "Moreira TF, Sorbo JM, Souza FO, Fernandes BC, Ocampos FMM, de Oliveira DMS, Arcaro CA, Assis RP, Barison A, Miguel OG, Baviera AM, Soares CP, Brunetti IL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30057674", "url": "https://glygen.org/publication/PubMed/30057674" } ] }, { "title": "Thymosin beta4 inhibits PDGF-BB induced activation, proliferation, and migration of human hepatic stellate cells via its actin-binding domain.", "journal": "Expert opinion on biological therapy", "date": "2018", "authors": "Shah R, Reyes-Gordillo K, Rojkind M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30063851", "url": "https://glygen.org/publication/PubMed/30063851" } ] }, { "title": "SPAG5 interacts with CEP55 and exerts oncogenic activities via PI3K/AKT pathway in hepatocellular carcinoma.", "journal": "Molecular cancer", "date": "2018", "authors": "Yang YF, Zhang MF, Tian QH, Fu J, Yang X, Zhang CZ, Yang H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30089483", "url": "https://glygen.org/publication/PubMed/30089483" } ] }, { "title": "miR-190 promotes HCC proliferation and metastasis by targeting PHLPP1.", "journal": "Experimental cell research", "date": "2018", "authors": "Xiong Y, Wu S, Yu H, Wu J, Wang Y, Li H, Huang H, Zhang H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30092222", "url": "https://glygen.org/publication/PubMed/30092222" } ] }, { "title": "Exosomes released from pancreatic cancer cells enhance angiogenic activities via dynamin-dependent endocytosis in endothelial cells in vitro.", "journal": "Scientific reports", "date": "2018", "authors": "Chiba M, Kubota S, Sato K, Monzen S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30097593", "url": "https://glygen.org/publication/PubMed/30097593" } ] }, { "title": "MicroRNA-375 inhibits the proliferation, migration and invasion of kidney cancer cells by triggering apoptosis and modulation of PDK1 expression.", "journal": "Environmental toxicology and pharmacology", "date": "2018", "authors": "Wang J, Sun X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30098579", "url": "https://glygen.org/publication/PubMed/30098579" } ] }, { "title": "CIP2A depletion potentiates the chemosensitivity of cisplatin by inducing increased apoptosis in bladder cancer cells.", "journal": "Oncology reports", "date": "2018", "authors": "Gao F, Wang X, Chen S, Xu T, Wang X, Shen Y, Dong F, Zhong S, Shen Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30106121", "url": "https://glygen.org/publication/PubMed/30106121" } ] }, { "title": "Preclinical evidence of the enhanced effectiveness of combined rapamycin and AICAR in reducing kidney cancer.", "journal": "Molecular oncology", "date": "2018", "authors": "Liang S, Medina EA, Li B, Habib SL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30107094", "url": "https://glygen.org/publication/PubMed/30107094" } ] }, { "title": "MIST1 regulates SNAI1 and acts through the PTEN/AKT signaling axis to promote anoikisresistance in human melanoma cells.", "journal": "Experimental and therapeutic medicine", "date": "2018", "authors": "Lee Y, Yao W, Yang C, Li Y, Ni H, Wang L, Ji B, Gu Y, Yang S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30112032", "url": "https://glygen.org/publication/PubMed/30112032" } ] }, { "title": "Signalling mechanisms that regulate metabolic profile and autophagy of acute myeloid leukaemia cells.", "journal": "Journal of cellular and molecular medicine", "date": "2018", "authors": "Pereira O, Teixeira A, Sampaio-Marques B, Castro I, Girao H, Ludovico P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30117681", "url": "https://glygen.org/publication/PubMed/30117681" } ] }, { "title": "PTEN deficiency confers colorectal cancer cell resistance to dual inhibitors of FLT3 and aurora kinase A.", "journal": "Cancer letters", "date": "2018", "authors": "Liu Y, Yang EJ, Zhang B, Miao Z, Wu C, Lyu J, Tan K, Poon TCW, Shim JS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30118842", "url": "https://glygen.org/publication/PubMed/30118842" } ] }, { "title": "TIMMDC1 Knockdown Inhibits Growth and Metastasis of Gastric Cancer Cells through Metabolic Inhibition and AKT/GSK3beta/beta-Catenin Signaling Pathway.", "journal": "International journal of biological sciences", "date": "2018", "authors": "Liu Y, Huang Y, Zhang J, Pei C, Hu J, Lyu J, Shen Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30123074", "url": "https://glygen.org/publication/PubMed/30123074" } ] }, { "title": "Bufalin suppresses the proliferation and metastasis of renal cell carcinoma by inhibiting the PI3K/Akt/mTOR signaling pathway.", "journal": "Oncology letters", "date": "2018", "authors": "Xie J, Lin W, Huang L, Xu N, Xu A, Chen B, Watanabe M, Liu C, Huang P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30128000", "url": "https://glygen.org/publication/PubMed/30128000" } ] }, { "title": "High miR-718 Suppresses Phosphatase and Tensin Homolog (PTEN) Expression and Correlates to Unfavorable Prognosis in Gastric Cancer.", "journal": "Medical science monitor : international medical journal of experimental and clinical research", "date": "2018", "authors": "Liu S, Tian Y, Zhu C, Yang X, Sun Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30131483", "url": "https://glygen.org/publication/PubMed/30131483" } ] }, { "title": "17beta-estradiol upregulates striatin protein levels via Akt pathway in human umbilical vein endothelial cells.", "journal": "PloS one", "date": "2018", "authors": "Zheng S, Sun P, Liu H, Li R, Long L, Xu Y, Chen S, Xu J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30138337", "url": "https://glygen.org/publication/PubMed/30138337" } ] }, { "title": "Upregulation of glycosaminoglycan synthesis by Neurotropin in nucleus pulposus cells via stimulation of chondroitin sulfate N-acetylgalactosaminyltransferase 1: A new approach to attenuation of intervertebral disc degeneration.", "journal": "PloS one", "date": "2018", "authors": "Sakai D, Nakai T, Hiraishi S, Nakamura Y, Ando K, Naiki M, Watanabe M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30148873", "url": "https://glygen.org/publication/PubMed/30148873" } ] }, { "title": "Activation of the Gi protein-RHOA axis by non-canonical Hedgehog signaling is independent of primary cilia.", "journal": "PloS one", "date": "2018", "authors": "Ho Wei L, Arastoo M, Georgiou I, Manning DR, Riobo-Del Galdo NA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30148884", "url": "https://glygen.org/publication/PubMed/30148884" } ] }, { "title": "ID1-induced p16/IL6 axis activation contributes to the resistant of hepatocellular carcinoma cells to sorafenib.", "journal": "Cell death & disease", "date": "2018", "authors": "Niu LL, Cheng CL, Li MY, Yang SL, Hu BG, Chong CCN, Chan SL, Ren J, Chen GG, Lai PBS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30154433", "url": "https://glygen.org/publication/PubMed/30154433" } ] }, { "title": "m(6)A mRNA methylation regulates AKT activity to promote the proliferation and tumorigenicity of endometrial cancer.", "journal": "Nature cell biology", "date": "2018", "authors": "Liu J, Eckert MA, Harada BT, Liu SM, Lu Z, Yu K, Tienda SM, Chryplewicz A, Zhu AC, Yang Y, Huang JT, Chen SM, Xu ZG, Leng XH, Yu XC, Cao J, Zhang Z, Liu J, Lengyel E, He C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30154548", "url": "https://glygen.org/publication/PubMed/30154548" } ] }, { "title": "Disentangling Host-Microbiota Regulation of Lipid Secretion by Enterocytes: Insights from Commensals Lactobacillus paracasei and Escherichia coli.", "journal": "mBio", "date": "2018", "authors": "Tazi A, Araujo JR, Mulet C, Arena ET, Nigro G, Pedron T, Sansonetti PJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30181250", "url": "https://glygen.org/publication/PubMed/30181250" } ] }, { "title": "A Novel Mechanism of Doxorubicin Resistance and Tumorigenesis Mediated by MicroRNA-501-5p-Suppressed BLID.", "journal": "Molecular therapy. Nucleic acids", "date": "2018-09-07", "authors": "Xu Yun-Chao, Liu Xu, Li Min, Li Yan, Li Chun-Yan, Lu Ying, Sanches Jaceline, Wang Lu, Du Yue, Mao Li-Min, Zuo Si-Bo, Liu Hui-Ting, Shen Jie, Wang Bo, Hou Li, Li Lian-Hong, Tang Jian-Wu, Ju Jing-Fang, Guan Hong-Wei, Song Bo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30195794", "url": "https://glygen.org/publication/PubMed/30195794" } ] }, { "title": "Phosphorylation-Dependent Inhibition of Akt1.", "journal": "Genes", "date": "2018", "authors": "Balasuriya N, McKenna M, Liu X, Li SSC, O'Donoghue P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30205513", "url": "https://glygen.org/publication/PubMed/30205513" } ] }, { "title": "Zinc uptake promotes myoblast differentiation via Zip7 transporter and activation of Akt signalling transduction pathway.", "journal": "Scientific reports", "date": "2018", "authors": "Mnatsakanyan H, Serra RSI, Rico P, Salmeron-Sanchez M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30206294", "url": "https://glygen.org/publication/PubMed/30206294" } ] }, { "title": "Hexanoic, Octanoic and Decanoic Acids Promote Basal and Insulin-Induced Phosphorylation of the Akt-mTOR Axis and a Balanced Lipid Metabolism in the HepG2 Hepatoma Cell Line.", "journal": "Molecules (Basel, Switzerland)", "date": "2018", "authors": "Rial SA, Ravaut G, Malaret TB, Bergeron KF, Mounier C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30208604", "url": "https://glygen.org/publication/PubMed/30208604" } ] }, { "title": "Effect of Chronic Hyperglycemia on Glucose Metabolism in Subjects With Normal Glucose Tolerance.", "journal": "Diabetes", "date": "2018-12", "authors": "Shannon Chris, Merovci Aurora, Xiong Juan, Tripathy Devjit, Lorenzo Felipe, McClain Donald, Abdul-Ghani Muhammad, Norton Luke, DeFronzo Ralph A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30213826", "url": "https://glygen.org/publication/PubMed/30213826" } ] }, { "title": "KIF14 promotes cell proliferation via activation of Akt and is directly targeted by miR-200c in colorectal cancer.", "journal": "International journal of oncology", "date": "2018", "authors": "Wang ZZ, Yang J, Jiang BH, Di JB, Gao P, Peng L, Su XQ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30226594", "url": "https://glygen.org/publication/PubMed/30226594" } ] }, { "title": "Magnolin targeting of ERK1/2 inhibits cell proliferation and colony growth by induction of cellular senescence in ovarian cancer cells.", "journal": "Molecular carcinogenesis", "date": "2019", "authors": "Song JH, Lee CJ, An HJ, Yoo SM, Kang HC, Lee JY, Kim KD, Kim DJ, Lee HS, Cho YY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30230030", "url": "https://glygen.org/publication/PubMed/30230030" } ] }, { "title": "Alpha-enolase regulates the malignant phenotype of pulmonary artery smooth muscle cells via the AMPK-Akt pathway.", "journal": "Nature communications", "date": "2018", "authors": "Dai J, Zhou Q, Chen J, Rexius-Hall ML, Rehman J, Zhou G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30242159", "url": "https://glygen.org/publication/PubMed/30242159" } ] }, { "title": "PAK5 Induces EMT and Promotes Cell Migration and Invasion by Activating the PI3K/AKT Pathway in Ovarian Cancer.", "journal": "Analytical cellular pathology (Amsterdam)", "date": "2018", "authors": "Li D, Pan Y, Huang Y, Zhang P, Fang X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30245957", "url": "https://glygen.org/publication/PubMed/30245957" } ] }, { "title": "Chlorogenic Acid Targeting of the AKT PH Domain Activates AKT/GSK3beta/FOXO1 Signaling and Improves Glucose Metabolism.", "journal": "Nutrients", "date": "2018", "authors": "Gao J, He X, Ma Y, Zhao X, Hou X, Hao E, Deng J, Bai G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30249058", "url": "https://glygen.org/publication/PubMed/30249058" } ] }, { "title": "R-Limonene Enhances Differentiation and 2-Deoxy-D-Glucose Uptake in 3T3-L1 Preadipocytes by Activating the Akt Signaling Pathway.", "journal": "Evidence-based complementary and alternative medicine : eCAM", "date": "2018", "authors": "Soundharrajan I, Kim DH, Srisesharam S, Kuppusamy P, Choi KC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30250490", "url": "https://glygen.org/publication/PubMed/30250490" } ] }, { "title": "Differential alterations of positive and negative regulators of beta catenin enhance endogenous expression and activity of beta catenin in A549 non small cell lung cancer (NSCLC) cells.", "journal": "Genes & diseases", "date": "2016", "authors": "Ghatak S, Raha S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30258898", "url": "https://glygen.org/publication/PubMed/30258898" } ] }, { "title": "Silencing of PRR11 suppresses cell proliferation and induces autophagy in NSCLC cells.", "journal": "Genes & diseases", "date": "2018", "authors": "Zhang L, Lei Y, Zhang Y, Li Y, Bu Y, Song F, Zhang C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30258945", "url": "https://glygen.org/publication/PubMed/30258945" } ] }, { "title": "CBAP modulates Akt-dependent TSC2 phosphorylation to promote Rheb-mTORC1 signaling and growth of T-cell acute lymphoblastic leukemia.", "journal": "Oncogene", "date": "2019", "authors": "Chiang YJ, Liao WT, Ho KC, Wang SH, Chen YG, Ho CL, Huang SF, Shih LY, Yang-Yen HF, Yen JJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30266989", "url": "https://glygen.org/publication/PubMed/30266989" } ] }, { "title": "Identification of serum \u03b2-catenin as a biomarker in patients with HBV-related liver diseases.", "journal": "Journal of translational medicine", "date": "2018-09-29", "authors": "Duan Liang, Yang Qianfan, Yang Jun, Hu Qin, Wang Bo, Li Pu, Chen Weixian", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30268125", "url": "https://glygen.org/publication/PubMed/30268125" } ] }, { "title": "Metabolic surgery improves insulin resistance through the reduction of gut-secreted heat shock proteins.", "journal": "Communications biology", "date": "2018", "authors": "Angelini G, Salinari S, Bertuzzi A, Iaconelli A, Mingrone G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30271951", "url": "https://glygen.org/publication/PubMed/30271951" } ] }, { "title": "Commitment to Aerobic Glycolysis Sustains Immunosuppression of Human Mesenchymal Stem Cells.", "journal": "Stem cells translational medicine", "date": "2019", "authors": "Liu Y, Yuan X, Munoz N, Logan TM, Ma T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30272389", "url": "https://glygen.org/publication/PubMed/30272389" } ] }, { "title": "LP1 from Lentinula edodes C91-3 Induces Autophagy, Apoptosis and Reduces Metastasis in Human Gastric Cancer Cell Line SGC-7901.", "journal": "International journal of molecular sciences", "date": "2018", "authors": "Batool S, Joseph TP, Hussain M, Vuai MS, Khinsar KH, Din SRU, Padhiar AA, Zhong M, Ning A, Zhang W, Cao J, Huang M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30274346", "url": "https://glygen.org/publication/PubMed/30274346" } ] }, { "title": "Transient receptor potential channel 6 knockdown prevents apoptosis of renal tubular epithelial cells upon oxidative stress via autophagy activation.", "journal": "Cell death & disease", "date": "2018", "authors": "Hou X, Xiao H, Zhang Y, Zeng X, Huang M, Chen X, Birnbaumer L, Liao Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30282964", "url": "https://glygen.org/publication/PubMed/30282964" } ] }, { "title": "Reduced menin expression impairs rapamycin effects as evidenced by an increase in mTORC2 signaling and cell migration.", "journal": "Cell communication and signaling : CCS", "date": "2018-10-01", "authors": "Razmara Masoud, Monazzam Azita, Skogseid Britt", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30285764", "url": "https://glygen.org/publication/PubMed/30285764" } ] }, { "title": "Development of acquired resistance to lapatinib may sensitise HER2-positive breast cancer cells to apoptosis induction by obatoclax and TRAIL.", "journal": "BMC cancer", "date": "2018", "authors": "Eustace AJ, Conlon NT, McDermott MSJ, Browne BC, O'Leary P, Holmes FA, Espina V, Liotta LA, O'Shaughnessy J, Gallagher C, O'Driscoll L, Rani S, Madden SF, O'Brien NA, Ginther C, Slamon D, Walsh N, Gallagher WM, Zagozdzon R, Watson WR, O'Donovan N, Crown J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30305055", "url": "https://glygen.org/publication/PubMed/30305055" } ] }, { "title": "Preclinical In Vitro and In Vivo Evidence of an Antitumor Effect of CX-4945, a Casein Kinase II Inhibitor, in Cholangiocarcinoma.", "journal": "Translational oncology", "date": "2019", "authors": "Zakharia K, Miyabe K, Wang Y, Wu D, Moser CD, Borad MJ, Roberts LR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30316146", "url": "https://glygen.org/publication/PubMed/30316146" } ] }, { "title": "Stress-induced modulation of volume-regulated anions channels in human alveolar carcinoma cells.", "journal": "Physiological reports", "date": "2018", "authors": "Bach MD, Sorensen BH, Lambert IH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30318853", "url": "https://glygen.org/publication/PubMed/30318853" } ] }, { "title": "E-cadherin loss induces targetable autocrine activation of growth factor signalling in lobular breast cancer.", "journal": "Scientific reports", "date": "2018", "authors": "Teo K, Gomez-Cuadrado L, Tenhagen M, Byron A, Ratze M, van Amersfoort M, Renes J, Strengman E, Mandoli A, Singh AA, Martens JH, Stunnenberg HG, van Diest PJ, Brunton VG, Derksen PWB", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30337563", "url": "https://glygen.org/publication/PubMed/30337563" } ] }, { "title": "mTOR kinase leads to PTEN-loss-induced cellular senescence by phosphorylating p53.", "journal": "Oncogene", "date": "2019", "authors": "Jung SH, Hwang HJ, Kang D, Park HA, Lee HC, Jeong D, Lee K, Park HJ, Ko YG, Lee JS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30337688", "url": "https://glygen.org/publication/PubMed/30337688" } ] }, { "title": "Chitosan encapsulated nanocurcumin induces GLUT-4 translocation and exhibits enhanced anti-hyperglycemic function.", "journal": "Life sciences", "date": "2018", "authors": "Chauhan P, Tamrakar AK, Mahajan S, Prasad GBKS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30343126", "url": "https://glygen.org/publication/PubMed/30343126" } ] }, { "title": "CUDC-907 blocks multiple pro-survival signals and abrogates microenvironment protection in CLL.", "journal": "Journal of cellular and molecular medicine", "date": "2019", "authors": "Chen Y, Peubez C, Smith V, Xiong S, Kocsis-Fodor G, Kennedy B, Wagner S, Balotis C, Jayne S, Dyer MJS, Macip S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30353642", "url": "https://glygen.org/publication/PubMed/30353642" } ] }, { "title": "IL-17A promotes cell migration and invasion of glioblastoma cells via activation of PI3K/AKT signalling pathway.", "journal": "Journal of cellular and molecular medicine", "date": "2019", "authors": "Zheng Q, Diao S, Wang Q, Zhu C, Sun X, Yin B, Zhang X, Meng X, Wang B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30353649", "url": "https://glygen.org/publication/PubMed/30353649" } ] }, { "title": "PARP inhibitors affect growth, survival and radiation susceptibility of human alveolar and embryonal rhabdomyosarcoma cell lines.", "journal": "Journal of cancer research and clinical oncology", "date": "2019-01", "authors": "Camero Simona, Ceccarelli Simona, De Felice Francesca, Marampon Francesco, Mannarino Olga, Camicia Lucrezia, Vescarelli Enrica, Pontecorvi Paola, Pizer Barry, Shukla Rajeev, Schiavetti Amalia, Mollace Maria Giovanna, Pizzuti Antonio, Tombolini Vincenzo, Marchese Cinzia, Megiorni Francesca, Dominici Carlo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30357520", "url": "https://glygen.org/publication/PubMed/30357520" } ] }, { "title": "Knockdown of insulin-like growth factor 1 exerts a protective effect on hypoxic injury of aged BM-MSCs: role of autophagy.", "journal": "Stem cell research & therapy", "date": "2018", "authors": "Yang M, Wen T, Chen H, Deng J, Yang C, Zhang Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30359321", "url": "https://glygen.org/publication/PubMed/30359321" } ] }, { "title": "The Causal Role of Mitochondrial Dynamics in Regulating Insulin Resistance in Diabetes: Link through Mitochondrial Reactive Oxygen Species.", "journal": "Oxidative medicine and cellular longevity", "date": "2018", "authors": "Lin HY, Weng SW, Chang YH, Su YJ, Chang CM, Tsai CJ, Shen FC, Chuang JH, Lin TK, Liou CW, Lin CY, Wang PW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30363990", "url": "https://glygen.org/publication/PubMed/30363990" } ] }, { "title": "Taxifolin, a natural flavonoid interacts with cell cycle regulators causes cell cycle arrest and causes tumor regression by activating Wnt/ beta -catenin signaling pathway.", "journal": "BMC cancer", "date": "2018", "authors": "Razak S, Afsar T, Ullah A, Almajwal A, Alkholief M, Alshamsan A, Jahan S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30367624", "url": "https://glygen.org/publication/PubMed/30367624" } ] }, { "title": "Differential regulation of mTORC1 and mTORC2 is critical for 8-Br-cAMP-induced decidualization.", "journal": "Experimental & molecular medicine", "date": "2018", "authors": "Baek MO, Song HI, Han JS, Yoon MS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30374127", "url": "https://glygen.org/publication/PubMed/30374127" } ] }, { "title": "Metabolic biomarkers of response to the AKT inhibitor MK-2206 in pre-clinical models of human colorectal and prostate carcinoma.", "journal": "British journal of cancer", "date": "2018-10", "authors": "Al-Saffar Nada M S, Troy Helen, Wong Te Fong Anne-Christine, Paravati Roberta, Jackson L Elizabeth, Gowan Sharon, Boult Jessica K R, Robinson Simon P, Eccles Suzanne A, Yap Timothy A, Leach Martin O, Chung Yuen-Li", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30377337", "url": "https://glygen.org/publication/PubMed/30377337" } ] }, { "title": "Triciribine increases LDLR expression and LDL uptake through stabilization of LDLR mRNA.", "journal": "Scientific reports", "date": "2018", "authors": "Bjune K, Wierod L, Naderi S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30385871", "url": "https://glygen.org/publication/PubMed/30385871" } ] }, { "title": "Marek's Disease Virus Activates the PI3K/Akt Pathway Through Interaction of Its Protein Meq With the P85 Subunit of PI3K to Promote Viral Replication.", "journal": "Frontiers in microbiology", "date": "2018", "authors": "Li H, Zhu J, He M, Luo Q, Liu F, Chen R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30405592", "url": "https://glygen.org/publication/PubMed/30405592" } ] }, { "title": "Photothermal exposure of polydopamine-coated branched Au-Ag nanoparticles induces cell cycle arrest, apoptosis, and autophagy in human bladder cancer cells.", "journal": "International journal of nanomedicine", "date": "2018", "authors": "Zhao X, Qi T, Kong C, Hao M, Wang Y, Li J, Liu B, Gao Y, Jiang J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30410328", "url": "https://glygen.org/publication/PubMed/30410328" } ] }, { "title": "The critical role of AMPK in driving Akt activation under stress, tumorigenesis and drug resistance.", "journal": "Nature communications", "date": "2018-11-09", "authors": "Han Fei, Li Chien-Feng, Cai Zhen, Zhang Xian, Jin Guoxiang, Zhang Wei-Na, Xu Chuan, Wang Chi-Yun, Morrow John, Zhang Shuxing, Xu Dazhi, Wang Guihua, Lin Hui-Kuan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30413706", "url": "https://glygen.org/publication/PubMed/30413706" } ] }, { "title": "The geranyl acetophenone tHGA attenuates human bronchial smooth muscle proliferation via inhibition of AKT phosphorylation.", "journal": "Scientific reports", "date": "2018", "authors": "Yap HM, Lee YZ, Harith HH, Tham CL, Cheema MS, Shaari K, Israf DA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30413753", "url": "https://glygen.org/publication/PubMed/30413753" } ] }, { "title": "Metabolic regulation of T cell development by Sin1-mTORC2 is mediated by pyruvate kinase M2.", "journal": "Journal of molecular cell biology", "date": "2019", "authors": "Ouyang X, Han Y, Qu G, Li M, Wu N, Liu H, Arojo O, Sun H, Liu X, Liu D, Chen L, Zou Q, Su B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30428057", "url": "https://glygen.org/publication/PubMed/30428057" } ] }, { "title": "High-Intensity Interval Training Improves Markers of Oxidative Metabolism in Skeletal Muscle of Individuals With Obesity and Insulin Resistance.", "journal": "Frontiers in physiology", "date": "2018", "authors": "de Matos MA, Vieira DV, Pinhal KC, Lopes JF, Dias-Peixoto MF, Pauli JR, de Castro Magalhaes F, Little JP, Rocha-Vieira E, Amorim FT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30429793", "url": "https://glygen.org/publication/PubMed/30429793" } ] }, { "title": "NUMB maintains bone mass by promoting degradation of PTEN and GLI1 via ubiquitination in osteoblasts.", "journal": "Bone research", "date": "2018", "authors": "Ye L, Lou F, Yu F, Zhang D, Wang C, Wu F, Li X, Ping Y, Yang X, Yang J, Chen D, Gao B, Huang D, Liu P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30455992", "url": "https://glygen.org/publication/PubMed/30455992" } ] }, { "title": "Disruption of stromal hedgehog signaling initiates RNF5-mediated proteasomal degradation of PTEN and accelerates pancreatic tumor growth.", "journal": "Life science alliance", "date": "2018", "authors": "Pitarresi JR, Liu X, Avendano A, Thies KA, Sizemore GM, Hammer AM, Hildreth BE 3rd, Wang DJ, Steck SA, Donohue S, Cuitino MC, Kladney RD, Mace TA, Chang JJ, Ennis CS, Li H, Reeves RH, Blackshaw S, Zhang J, Yu L, Fernandez SA, Frankel WL, Bloomston M, Rosol TJ, Lesinski GB, Konieczny SF, Guttridge DC, Rustgi AK, Leone G, Song JW, Wu J, Ostrowski MC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30456390", "url": "https://glygen.org/publication/PubMed/30456390" } ] }, { "title": "Targeting PRMT5/Akt signalling axis prevents human lung cancer cell growth.", "journal": "Journal of cellular and molecular medicine", "date": "2019-02", "authors": "Zhang Shikui, Ma Yaqiong, Hu Xiaoyan, Zheng Yonghua, Chen Xiaoke", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30461193", "url": "https://glygen.org/publication/PubMed/30461193" } ] }, { "title": "Significance of PYK2 level as a prognosis predictor in patients with colon adenocarcinoma after surgical resection.", "journal": "OncoTargets and therapy", "date": "2018", "authors": "Liu S, Chen L, Xu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30464511", "url": "https://glygen.org/publication/PubMed/30464511" } ] }, { "title": "Tonic ATP-mediated growth suppression in peripheral nerve glia requires arrestin-PP2 and is evaded in NF1.", "journal": "Acta neuropathologica communications", "date": "2018", "authors": "Coover RA, Healy TE, Guo L, Chaney KE, Hennigan RF, Thomson CS, Aschbacher-Smith LE, Jankowski MP, Ratner N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30470263", "url": "https://glygen.org/publication/PubMed/30470263" } ] }, { "title": "IL-4-dependent Jagged1 expression/processing is associated with survival of chronic lymphocytic leukemia cells but not with Notch activation.", "journal": "Cell death & disease", "date": "2018", "authors": "De Falco F, Del Papa B, Baldoni S, Sabatini R, Falzetti F, Di Ianni M, Martelli MP, Mezzasoma F, Pelullo M, Marconi P, Sportoletti P, Screpanti I, Rosati E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30478302", "url": "https://glygen.org/publication/PubMed/30478302" } ] }, { "title": "AKT phosphorylation sites of Ser473 and Thr308 regulate AKT degradation.", "journal": "Bioscience, biotechnology, and biochemistry", "date": "2019", "authors": "Wei Y, Zhou J, Yu H, Jin X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30488766", "url": "https://glygen.org/publication/PubMed/30488766" } ] }, { "title": "Protein Phosphatase 1 Regulatory Subunit SDS22 Inhibits Breast Cancer Cell Tumorigenesis by Functioning as a Negative Regulator of the AKT Signaling Pathway.", "journal": "Neoplasia (New York, N.Y.)", "date": "2019", "authors": "Paul D, Bargale AB, Rapole S, Shetty PK, Santra MK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30500680", "url": "https://glygen.org/publication/PubMed/30500680" } ] }, { "title": "Enhancing TFEB-Mediated Cellular Degradation Pathways by the mTORC1 Inhibitor Quercetin.", "journal": "Oxidative medicine and cellular longevity", "date": "2018", "authors": "Huang Y, Chen Y, Shaw AM, Goldfine H, Tian J, Cai J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30510622", "url": "https://glygen.org/publication/PubMed/30510622" } ] }, { "title": "The roles of prostaglandin F2 in regulating the expression of matrix metalloproteinase-12 via an insulin growth factor-2-dependent mechanism in sheared chondrocytes.", "journal": "Signal transduction and targeted therapy", "date": "2018", "authors": "Guan PP, Ding WY, Wang P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30510777", "url": "https://glygen.org/publication/PubMed/30510777" } ] }, { "title": "A Soft Coral-Derived Compound, 11-Dehydrosinulariolide, Induces G2/M Cell Cycle Arrest and Apoptosis in Small Cell Lung Cancer.", "journal": "Marine drugs", "date": "2018", "authors": "Lin YC, Su JH, Lin SC, Chang CC, Hsia TC, Tung YT, Lin CC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30513611", "url": "https://glygen.org/publication/PubMed/30513611" } ] }, { "title": "Nutritional stress reprograms dedifferention in glioblastoma multiforme driven by PTEN/Wnt/Hedgehog axis: a stochastic model of cancer stem cells.", "journal": "Cell death discovery", "date": "2018", "authors": "Mondal S, Bhattacharya K, Mandal C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30534418", "url": "https://glygen.org/publication/PubMed/30534418" } ] }, { "title": "Inhibitors of the VEGF Receptor Suppress HeLa S3 Cell Proliferation via Misalignment of Chromosomes and Rotation of the Mitotic Spindle, Causing a Delay in M-Phase Progression.", "journal": "International journal of molecular sciences", "date": "2018", "authors": "Okumura D, Hagino M, Yamagishi A, Kaibori Y, Munira S, Saito Y, Nakayama Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30545129", "url": "https://glygen.org/publication/PubMed/30545129" } ] }, { "title": "Cordyceps militaris fraction inhibits the invasion and metastasis of lung cancer cells through the protein kinase B/glycogen synthase kinase 3beta/beta-catenin signaling pathway.", "journal": "Oncology letters", "date": "2018", "authors": "Zhou Q, Zhang Z, Song L, Huang C, Cheng Q, Bi S, Hu X, Yu R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30546425", "url": "https://glygen.org/publication/PubMed/30546425" } ] }, { "title": "A769662 Inhibits Insulin-Stimulated Akt Activation in Human Macrovascular Endothelial Cells Independent of AMP-Activated Protein Kinase.", "journal": "International journal of molecular sciences", "date": "2018-12-05", "authors": "Strembitska Anastasiya, Mancini Sarah J, Gamwell Jonathan M, Palmer Timothy M, Baillie George S, Salt Ian P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30563079", "url": "https://glygen.org/publication/PubMed/30563079" } ] }, { "title": "Notch Signaling Regulates Mitochondrial Metabolism and NF-kappaB Activity in Triple-Negative Breast Cancer Cells via IKKalpha-Dependent Non-canonical Pathways.", "journal": "Frontiers in oncology", "date": "2018", "authors": "Hossain F, Sorrentino C, Ucar DA, Peng Y, Matossian M, Wyczechowska D, Crabtree J, Zabaleta J, Morello S, Del Valle L, Burow M, Collins-Burow B, Pannuti A, Minter LM, Golde TE, Osborne BA, Miele L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30564555", "url": "https://glygen.org/publication/PubMed/30564555" } ] }, { "title": "Sin1 (Stress-Activated Protein Kinase-Interacting Protein) Regulates Ischemia-Induced Microthrombosis Through Integrin alphaIIbbeta3-Mediated Outside-In Signaling and Hypoxia Responses in Platelets.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2018", "authors": "Xu Y, Ouyang X, Yan L, Zhang M, Hu Z, Gu J, Fan X, Zhang L, Zhang J, Xue S, Chen G, Su B, Liu J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30571167", "url": "https://glygen.org/publication/PubMed/30571167" } ] }, { "title": "Loss of Phd2 cooperates with BRAF(V600E) to drive melanomagenesis.", "journal": "Nature communications", "date": "2018", "authors": "Liu S, Zhang G, Guo J, Chen X, Lei J, Ze K, Dong L, Dai X, Gao Y, Song D, Ecker BL, Yang R, Feltcher C, Peng K, Feng C, Chen H, Lee RX, Kerestes H, Niu J, Kumar S, Xu W, Zhang J, Wei Z, Martin JS, Liu X, Mills G, Lu Y, Guo W, Sun L, Zhang L, Weeraratna A, Herlyn M, Wei W, Lee FS, Xu X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30575721", "url": "https://glygen.org/publication/PubMed/30575721" } ] }, { "title": "Midostaurin potentiates rituximab antitumor activity in Burkitt's lymphoma by inducing apoptosis.", "journal": "Cell death & disease", "date": "2018", "authors": "Ge X, Chen J, Li L, Ding P, Wang Q, Zhang W, Li L, Lv X, Zhou D, Jiang Z, Zeng H, Xu Y, Hou Y, Hu W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30584254", "url": "https://glygen.org/publication/PubMed/30584254" } ] }, { "title": "The mTORC1/4E-BP1 axis represents a critical signaling node during fibrogenesis.", "journal": "Nature communications", "date": "2019", "authors": "Woodcock HV, Eley JD, Guillotin D, Plate M, Nanthakumar CB, Martufi M, Peace S, Joberty G, Poeckel D, Good RB, Taylor AR, Zinn N, Redding M, Forty EJ, Hynds RE, Swanton C, Karsdal M, Maher TM, Bergamini G, Marshall RP, Blanchard AD, Mercer PF, Chambers RC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30602778", "url": "https://glygen.org/publication/PubMed/30602778" } ] }, { "title": "PIK3CD induces cell growth and invasion by activating AKT/GSK-3beta/beta-catenin signaling in colorectal cancer.", "journal": "Cancer science", "date": "2019", "authors": "Chen JS, Huang JQ, Luo B, Dong SH, Wang RC, Jiang ZK, Xie YK, Yi W, Wen GM, Zhong JF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30618098", "url": "https://glygen.org/publication/PubMed/30618098" } ] }, { "title": "Tobacco Exposure Enhances Human Papillomavirus 16 Oncogene Expression via EGFR/PI3K/Akt/c-Jun Signaling Pathway in Cervical Cancer Cells.", "journal": "Frontiers in microbiology", "date": "2018", "authors": "Munoz JP, Carrillo-Beltran D, Aedo-Aguilera V, Calaf GM, Leon O, Maldonado E, Tapia JC, Boccardo E, Ozbun MA, Aguayo F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30619121", "url": "https://glygen.org/publication/PubMed/30619121" } ] }, { "title": "Salt Induces Adipogenesis/Lipogenesis and Inflammatory Adipocytokines Secretion in Adipocytes.", "journal": "International journal of molecular sciences", "date": "2019", "authors": "Lee M, Sorn SR, Lee Y, Kang I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30621146", "url": "https://glygen.org/publication/PubMed/30621146" } ] }, { "title": "A Possible Reason to Induce Acute Graft-vs.-Host Disease After Hematopoietic Stem Cell Transplantation: Lack of Sirtuin-1 in CD4(+) T Cells.", "journal": "Frontiers in immunology", "date": "2018", "authors": "Xu YJ, Chen FP, Chen Y, Fu B, Liu EY, Zou L, Liu LX", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30622543", "url": "https://glygen.org/publication/PubMed/30622543" } ] }, { "title": "STAT3 enhances the constitutive activity of AGC kinases in melanoma by transactivating PDK1.", "journal": "Cell & bioscience", "date": "2019", "authors": "Picco ME, Castro MV, Quezada MJ, Barbero G, Villanueva MB, Fernandez NB, Kim H, Lopez-Bergami P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30622697", "url": "https://glygen.org/publication/PubMed/30622697" } ] }, { "title": "AKT/protein kinase B associates with beta-actin in the nucleus of melanoma cells.", "journal": "Bioscience reports", "date": "2019", "authors": "Coa LL, Abreu TF, Tashima AK, Green J, Pascon RC, Vallim MA, Machado-Jr J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30643008", "url": "https://glygen.org/publication/PubMed/30643008" } ] }, { "title": "Activating PTEN Tumor Suppressor Expression with the CRISPR/dCas9 System.", "journal": "Molecular therapy. Nucleic acids", "date": "2019", "authors": "Moses C, Nugent F, Waryah CB, Garcia-Bloj B, Harvey AR, Blancafort P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30654190", "url": "https://glygen.org/publication/PubMed/30654190" } ] }, { "title": "MicroRNA-206 Reduces Osteosarcoma Cell Malignancy In Vitro by Targeting the PAX3-MET Axis.", "journal": "Yonsei medical journal", "date": "2019", "authors": "Zhan FB, Zhang XW, Feng SL, Cheng J, Zhang Y, Li B, Xie LZ, Deng QR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30666838", "url": "https://glygen.org/publication/PubMed/30666838" } ] }, { "title": "Transfection with GLS2 Glutaminase (GAB) Sensitizes Human Glioblastoma Cell Lines to Oxidative Stress by a Common Mechanism Involving Suppression of the PI3K/AKT Pathway.", "journal": "Cancers", "date": "2019", "authors": "Majewska E, Marquez J, Albrecht J, Szeliga M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30669455", "url": "https://glygen.org/publication/PubMed/30669455" } ] }, { "title": "TREM2 acts as a tumor suppressor in hepatocellular carcinoma by targeting the PI3K/Akt/beta-catenin pathway.", "journal": "Oncogenesis", "date": "2019", "authors": "Tang W, Lv B, Yang B, Chen Y, Yuan F, Ma L, Chen S, Zhang S, Xia J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30683932", "url": "https://glygen.org/publication/PubMed/30683932" } ] }, { "title": "SETDB1-mediated methylation of Akt promotes its K63-linked ubiquitination and activation leading to tumorigenesis.", "journal": "Nature cell biology", "date": "2019", "authors": "Wang G, Long J, Gao Y, Zhang W, Han F, Xu C, Sun L, Yang SC, Lan J, Hou Z, Cai Z, Jin G, Hsu CC, Wang YH, Hu J, Chen TY, Li H, Lee MG, Lin HK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30692626", "url": "https://glygen.org/publication/PubMed/30692626" } ] }, { "title": "Metformin Inhibit Lung Cancer Cell Growth and Invasion in Vitro as Well as Tumor Formation in Vivo Partially by Activating PP2A.", "journal": "Medical science monitor : international medical journal of experimental and clinical research", "date": "2019-01-29", "authors": "Zhou Xiaohu, Liu Shanshan, Lin Xuemei, Xu Liping, Mao Xiaoming, Liu Jun, Zhang Zixing, Jiang Wenhong, Zhou Hua", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30693913", "url": "https://glygen.org/publication/PubMed/30693913" } ] }, { "title": "The red pepper's spicy ingredient capsaicin activates AMPK in HepG2 cells through CaMKK\u03b2.", "journal": "PloS one", "date": "2019", "authors": "Bort Alicia, S\u00e1nchez Bel\u00e9n G, Sp\u00ednola Elena, Mateos-G\u00f3mez Pedro A, Rodr\u00edguez-Henche Nieves, D\u00edaz-Laviada In\u00e9s", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30695053", "url": "https://glygen.org/publication/PubMed/30695053" } ] }, { "title": "Targeting MicroRNA-21 Suppresses Gastric Cancer Cell Proliferation and Migration via PTEN/Akt Signaling Axis.", "journal": "Cell transplantation", "date": "2019-03", "authors": "Zhou Hao, Liu Hongyan, Jiang Miao, Zhang Shaoren, Chen Junfeng, Fan Xiaoming", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30700111", "url": "https://glygen.org/publication/PubMed/30700111" } ] }, { "title": "Solid stress-induced migration is mediated by GDF15 through Akt pathway activation in pancreatic cancer cells.", "journal": "Scientific reports", "date": "2019-01-30", "authors": "Kalli Maria, Minia Angeliki, Pliaka Vaia, Fotis Christos, Alexopoulos Leonidas G, Stylianopoulos Triantafyllos", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30700740", "url": "https://glygen.org/publication/PubMed/30700740" } ] }, { "title": "Targeting allosteric site of AKT by 5,7-dimethoxy-1,4-phenanthrenequinone suppresses neutrophilic inflammation.", "journal": "EBioMedicine", "date": "2019", "authors": "Chen PJ, Ko IL, Lee CL, Hu HC, Chang FR, Wu YC, Leu YL, Wu CC, Lin CY, Pan CY, Tsai YF, Hwang TL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30709770", "url": "https://glygen.org/publication/PubMed/30709770" } ] }, { "title": "Growth inhibition and apoptosis in colorectal cancer cells induced by Vitamin D-Nanoemulsion (NVD): involvement of Wnt/beta-catenin and other signal transduction pathways.", "journal": "Cell & bioscience", "date": "2019", "authors": "Razak S, Afsar T, Almajwal A, Alam I, Jahan S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30733856", "url": "https://glygen.org/publication/PubMed/30733856" } ] }, { "title": "PI3K inhibitors protect against glucocorticoid-induced skin atrophy.", "journal": "EBioMedicine", "date": "2019-03", "authors": "Agarwal Shivani, Mirzoeva Salida, Readhead Ben, Dudley Joel T, Budunova Irina", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30737086", "url": "https://glygen.org/publication/PubMed/30737086" } ] }, { "title": "mTORC2-mediated PDHE1\u03b1 nuclear translocation links EBV-LMP1 reprogrammed glucose metabolism to cancer metastasis in nasopharyngeal carcinoma.", "journal": "Oncogene", "date": "2019-06", "authors": "Zhang Jun, Jia Lin, Liu Tengfei, Yip Yim Ling, Tang Wing Chung, Lin Weitao, Deng Wen, Lo Kwok Wai, You Chanping, Lung Maria Li, Lung Hong Lok, Cheung Annie Lai-Man, Tsao Sai Wah, Tsang Chi Man", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30745576", "url": "https://glygen.org/publication/PubMed/30745576" } ] }, { "title": "Drug Sensitivity Screening and Targeted Pathway Analysis Reveal a Multi-Driver Proliferative Mechanism and Suggest a Strategy of Combination Targeted Therapy for Colorectal Cancer Cells.", "journal": "Molecules (Basel, Switzerland)", "date": "2019", "authors": "Shen J, Li L, Yang T, Cheng N, Sun G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30754629", "url": "https://glygen.org/publication/PubMed/30754629" } ] }, { "title": "Repression of Human Papillomavirus Oncogene Expression under Hypoxia Is Mediated by PI3K/mTORC2/AKT Signaling.", "journal": "mBio", "date": "2019", "authors": "Bossler F, Kuhn BJ, Gunther T, Kraemer SJ, Khalkar P, Adrian S, Lohrey C, Holzer A, Shimobayashi M, Durst M, Mayer A, Rosl F, Grundhoff A, Krijgsveld J, Hoppe-Seyler K, Hoppe-Seyler F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30755508", "url": "https://glygen.org/publication/PubMed/30755508" } ] }, { "title": "Ras-PI3K-AKT signaling promotes the occurrence and development of uveal melanoma by downregulating H3K56ac expression.", "journal": "Journal of cellular physiology", "date": "2019-02-15", "authors": "Li Yaping, Sun Dajun, Sun Weixuan, Yin Dexin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30770562", "url": "https://glygen.org/publication/PubMed/30770562" } ] }, { "title": "Macrophages derived exosomes deliver miR-223 to epithelial ovarian cancer cells to elicit a chemoresistant phenotype.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2019", "authors": "Zhu X, Shen H, Yin X, Yang M, Wei H, Chen Q, Feng F, Liu Y, Xu W, Li Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30770776", "url": "https://glygen.org/publication/PubMed/30770776" } ] }, { "title": "Immunonutritional consequences of different serine-type protease inhibitors in a C57BL/6 hepatocarcinoma model.", "journal": "Oncotarget", "date": "2019", "authors": "Laparra J, Fotschki B, Haros C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30774778", "url": "https://glygen.org/publication/PubMed/30774778" } ] }, { "title": "Somatic mutations of PREX2 gene in patients with hepatocellular carcinoma.", "journal": "Scientific reports", "date": "2019", "authors": "Yang MH, Yen CH, Chen YF, Fang CC, Li CH, Lee KJ, Lin YH, Weng CH, Liu TT, Huang SF, Teh BT, Chen YA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30796242", "url": "https://glygen.org/publication/PubMed/30796242" } ] }, { "title": "Quercetin and its metabolite isorhamnetin promote glucose uptake through different signalling pathways in myotubes.", "journal": "Scientific reports", "date": "2019", "authors": "Jiang H, Yamashita Y, Nakamura A, Croft K, Ashida H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30804434", "url": "https://glygen.org/publication/PubMed/30804434" } ] }, { "title": "Shear Stress Ameliorates Superoxide Impairment to Erythrocyte Deformability With Concurrent Nitric Oxide Synthase Activation.", "journal": "Frontiers in physiology", "date": "2019", "authors": "Kuck L, Grau M, Bloch W, Simmonds MJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30804795", "url": "https://glygen.org/publication/PubMed/30804795" } ] }, { "title": "Activin A Signaling Regulates IL13R\u03b12 Expression to Promote Breast Cancer Metastasis.", "journal": "Frontiers in oncology", "date": "2019", "authors": "Kalli Maria, Mpekris Fotios, Wong Chen K, Panagi Myrofora, Ozturk Sait, Thiagalingam Sam, Stylianopoulos Triantafyllos, Papageorgis Panagiotis", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30805303", "url": "https://glygen.org/publication/PubMed/30805303" } ] }, { "title": "Casticin-Induced Inhibition of Cell Growth and Survival Are Mediated through the Dual Modulation of Akt/mTOR Signaling Cascade.", "journal": "Cancers", "date": "2019", "authors": "Lee JH, Kim C, Um JY, Sethi G, Ahn KS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30813295", "url": "https://glygen.org/publication/PubMed/30813295" } ] }, { "title": "Complex Systems Biology Approach in Connecting PI3K-Akt and NF-kappaB Pathways in Prostate Cancer.", "journal": "Cells", "date": "2019", "authors": "Shankar E, Weis MC, Avva J, Shukla S, Shukla M, Sreenath SN, Gupta S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30813597", "url": "https://glygen.org/publication/PubMed/30813597" } ] }, { "title": "Low density lipoprotein mimics insulin action on autophagy and glucose uptake in endothelial cells.", "journal": "Scientific reports", "date": "2019", "authors": "Zhu L, Wu G, Yang X, Jia X, Li J, Bai X, Li W, Zhao Y, Li Y, Cheng W, Liu S, Jin S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30816192", "url": "https://glygen.org/publication/PubMed/30816192" } ] }, { "title": "Overexpression of Aiolos promotes epithelial-mesenchymal transition and cancer stem cell-like properties in lung cancer cells.", "journal": "Scientific reports", "date": "2019", "authors": "Hung JJ, Kao YS, Huang CH, Hsu WH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30816208", "url": "https://glygen.org/publication/PubMed/30816208" } ] }, { "title": "Quantitative proteomic analyses of dynamic signalling events in cortical neurons undergoing excitotoxic cell death.", "journal": "Cell death & disease", "date": "2019", "authors": "Hoque A, Williamson NA, Ameen SS, Ciccotosto GD, Hossain MI, Oakhill JS, Ng DCH, Ang CS, Cheng HC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30824683", "url": "https://glygen.org/publication/PubMed/30824683" } ] }, { "title": "Cinobufagin suppresses colorectal cancer angiogenesis by disrupting the endothelial mammalian target of rapamycin/hypoxia-inducible factor 1alpha axis.", "journal": "Cancer science", "date": "2019", "authors": "Li X, Chen C, Dai Y, Huang C, Han Q, Jing L, Ma Y, Xu Y, Liu Y, Zhao L, Wang J, Sun X, Yao X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30839155", "url": "https://glygen.org/publication/PubMed/30839155" } ] }, { "title": "In-depth characterization of the Wnt-signaling/\u03b2-catenin pathway in an in vitro model of Barrett's sequence.", "journal": "BMC gastroenterology", "date": "2019-03-06", "authors": "G\u00f6tzel Katharina, Chemnitzer Olga, Maurer Luisa, Dietrich Arne, Eichfeld Uwe, Lyros Orestis, Moulla Yusef, Niebisch Stefan, Mehdorn Matthias, Jansen-Winkeln Boris, Vieth Michael, Hoffmeister Albrecht, Gockel Ines, Thieme Ren\u00e9", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30841855", "url": "https://glygen.org/publication/PubMed/30841855" } ] }, { "title": "Nanog Signaling Mediates Radioresistance in ALDH-Positive Breast Cancer Cells.", "journal": "International journal of molecular sciences", "date": "2019-03-06", "authors": "Dehghan Harati Mozhgan, Rodemann H Peter, Toulany Mahmoud", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30845764", "url": "https://glygen.org/publication/PubMed/30845764" } ] }, { "title": "PPARgamma activation serves as therapeutic strategy against bladder cancer via inhibiting PI3K-Akt signaling pathway.", "journal": "BMC cancer", "date": "2019", "authors": "Lv S, Wang W, Wang H, Zhu Y, Lei C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30845932", "url": "https://glygen.org/publication/PubMed/30845932" } ] }, { "title": "Neddylation inhibitor MLN4924 suppresses cilia formation by modulating AKT1.", "journal": "Protein & cell", "date": "2019", "authors": "Mao H, Tang Z, Li H, Sun B, Tan M, Fan S, Zhu Y, Sun Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30850948", "url": "https://glygen.org/publication/PubMed/30850948" } ] }, { "title": "KD025 (SLx-2119) suppresses adipogenesis at intermediate stage in human adipose-derived stem cells.", "journal": "Adipocyte", "date": "2019", "authors": "Diep DTV, Duong KHM, Choi H, Jun HS, Chun KH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30860936", "url": "https://glygen.org/publication/PubMed/30860936" } ] }, { "title": "TRPM2 ion channel promotes gastric cancer migration, invasion and tumor growth through the AKT signaling pathway.", "journal": "Scientific reports", "date": "2019", "authors": "Almasi S, Sterea AM, Fernando W, Clements DR, Marcato P, Hoskin DW, Gujar S, El Hiani Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30862883", "url": "https://glygen.org/publication/PubMed/30862883" } ] }, { "title": "The Parkinson's disease-linked Leucine-rich repeat kinase 2 (LRRK2) is required for insulin-stimulated translocation of GLUT4.", "journal": "Scientific reports", "date": "2019", "authors": "Funk N, Munz M, Ott T, Brockmann K, Wenninger-Weinzierl A, Kuhn R, Vogt-Weisenhorn D, Giesert F, Wurst W, Gasser T, Biskup S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30872638", "url": "https://glygen.org/publication/PubMed/30872638" } ] }, { "title": "Epimagnolin targeting on an active pocket of mammalian target of rapamycin suppressed cell transformation and colony growth of lung cancer cells.", "journal": "Molecular carcinogenesis", "date": "2019", "authors": "Yoo SM, Lee CJ, Kang HC, Lee HS, Lee JY, Kim KD, Kim DJ, An HJ, Cho YY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30887599", "url": "https://glygen.org/publication/PubMed/30887599" } ] }, { "title": "Synthesis and biological evaluation of amino acid derivatives containing chrysin that induce apoptosis.", "journal": "Natural product research", "date": "2021", "authors": "Li Y, Zhang Q, He J, Yu W, Xiao J, Guo Y, Zhu X, Liu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30897948", "url": "https://glygen.org/publication/PubMed/30897948" } ] }, { "title": "DRAM1 regulates autophagy and cell proliferation via inhibition of the phosphoinositide 3-kinase-Akt-mTOR-ribosomal protein S6 pathway.", "journal": "Cell communication and signaling : CCS", "date": "2019", "authors": "Lu T, Zhu Z, Wu J, She H, Han R, Xu H, Qin ZH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30902093", "url": "https://glygen.org/publication/PubMed/30902093" } ] }, { "title": "Candesartan Restores the Amyloid Beta-Inhibited Proliferation of Neural Stem Cells by Activating the Phosphatidylinositol 3-Kinase Pathway.", "journal": "Dementia and neurocognitive disorders", "date": "2017", "authors": "Choi H, Choi NY, Lee KY, Lee YJ, Koh SH", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30906373", "url": "https://glygen.org/publication/PubMed/30906373" } ] }, { "title": "Overactive IGF1/Insulin Receptors and NRASQ61R Mutation Drive Mechanisms of Resistance to Pazopanib and Define Rational Combination Strategies to Treat Synovial Sarcoma.", "journal": "Cancers", "date": "2019", "authors": "Lanzi C, Dal Bo L, Favini E, Tortoreto M, Beretta GL, Arrighetti N, Zaffaroni N, Cassinelli G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30909453", "url": "https://glygen.org/publication/PubMed/30909453" } ] }, { "title": "The lncRNA MIR2052HG regulates ER\u03b1 levels and aromatase inhibitor resistance through LMTK3 by recruiting EGR1.", "journal": "Breast cancer research : BCR", "date": "2019-04-03", "authors": "Cairns Junmei, Ingle James N, Kalari Krishna R, Shepherd Lois E, Kubo Michiaki, Goetz Matthew P, Weinshilboum Richard M, Wang Liewei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30944027", "url": "https://glygen.org/publication/PubMed/30944027" } ] }, { "title": "MERTK mediated novel site Akt phosphorylation alleviates SAV1 suppression.", "journal": "Nature communications", "date": "2019", "authors": "Jiang Y, Zhang Y, Leung JY, Fan C, Popov KI, Su S, Qian J, Wang X, Holtzhausen A, Ubil E, Xiang Y, Davis I, Dokholyan NV, Wu G, Perou CM, Kim WY, Earp HS, Liu P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30944303", "url": "https://glygen.org/publication/PubMed/30944303" } ] }, { "title": "PTPRK suppresses progression and chemo-resistance of colon cancer cells via direct inhibition of pro-oncogenic CD133.", "journal": "FEBS open bio", "date": "2019", "authors": "Matsushita M, Mori Y, Uchiumi K, Ogata T, Nakamura M, Yoda H, Soda H, Takiguchi N, Nabeya Y, Shimozato O, Ozaki T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30947381", "url": "https://glygen.org/publication/PubMed/30947381" } ] }, { "title": "Di-n-butyl phthalate epigenetically induces reproductive toxicity via the PTEN/AKT pathway.", "journal": "Cell death & disease", "date": "2019", "authors": "Li R, Xing QW, Wu XL, Zhang L, Tang M, Tang JY, Wang JZ, Han P, Wang SQ, Wang W, Zhang W, Zhou GP, Qin ZQ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30952838", "url": "https://glygen.org/publication/PubMed/30952838" } ] }, { "title": "FoxK1 and FoxK2 in insulin regulation of cellular and mitochondrial metabolism.", "journal": "Nature communications", "date": "2019", "authors": "Sakaguchi M, Cai W, Wang CH, Cederquist CT, Damasio M, Homan EP, Batista T, Ramirez AK, Gupta MK, Steger M, Wewer Albrechtsen NJ, Singh SK, Araki E, Mann M, Enerback S, Kahn CR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30952843", "url": "https://glygen.org/publication/PubMed/30952843" } ] }, { "title": "Annexin A2 Regulates AKT Upon H(2)O(2)-Dependent Signaling Activation in Cancer Cells.", "journal": "Cancers", "date": "2019", "authors": "Castaldo SA, Ajime T, Serrao G, Anastacio F, Rosa JT, Giacomantonio CA, Howarth A, Hill R, Madureira PA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30959964", "url": "https://glygen.org/publication/PubMed/30959964" } ] }, { "title": "Combination of eribulin plus AKT inhibitor evokes synergistic cytotoxicity in soft tissue sarcoma cells.", "journal": "Scientific reports", "date": "2019-04-08", "authors": "Hayasaka Naotaka, Takada Kohichi, Nakamura Hajime, Arihara Yohei, Kawano Yutaka, Osuga Takahiro, Murase Kazuyuki, Kikuchi Shohei, Iyama Satoshi, Emori Makoto, Sugita Shintaro, Hasegawa Tadashi, Takasawa Akira, Miyanishi Koji, Kobune Masayoshi, Kato Junji", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30962488", "url": "https://glygen.org/publication/PubMed/30962488" } ] }, { "title": "Novel AU-rich proximal UTR sequences (APS) enhance CXCL8 synthesis upon the induction of rpS6 phosphorylation.", "journal": "PLoS genetics", "date": "2019", "authors": "Ang Z, Koean RAG, Er JZ, Lee LT, Tam JKC, Guo H, Ding JL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30969964", "url": "https://glygen.org/publication/PubMed/30969964" } ] }, { "title": "Glial Growth Factor 2 Regulates Glucose Transport in Healthy Cardiac Myocytes and During Myocardial Infarction via an Akt-Dependent Pathway.", "journal": "Frontiers in physiology", "date": "2019", "authors": "Shoop Shanell, Maria Zahra, Campolo Allison, Rashdan Nabil, Martin Dominic, Lovern Pamela, Lacombe V\u00e9ronique A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30971932", "url": "https://glygen.org/publication/PubMed/30971932" } ] }, { "title": "Unmasking a new prognostic marker and therapeutic target from the GDNF-RET/PIT1/p14ARF/p53 pathway in acromegaly.", "journal": "EBioMedicine", "date": "2019", "authors": "Chenlo M, Rodriguez-Gomez IA, Serramito R, Garcia-Rendueles AR, Villar-Taibo R, Fernandez-Rodriguez E, Perez-Romero S, Suarez-Farina M, Garcia-Allut A, Cabezas-Agricola JM, Rodriguez-Garcia J, Lear PV, Alvarez-San Martin RM, Alvarez-Escola C, Bernabeu I, Alvarez CV", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30975543", "url": "https://glygen.org/publication/PubMed/30975543" } ] }, { "title": "Green barley mitigates cytotoxicity in human lymphocytes undergoing aggressive oxidative stress, via activation of both the Lyn/PI3K/Akt and MAPK/ERK pathways.", "journal": "Scientific reports", "date": "2019", "authors": "Ruiz-Medina BE, Lerma D, Hwang M, Ross JA, Skouta R, Aguilera RJ, Kirken RA, Varela-Ramirez A, Robles-Escajeda E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30979953", "url": "https://glygen.org/publication/PubMed/30979953" } ] }, { "title": "Role of beta-adrenergic signaling in masseter muscle.", "journal": "PloS one", "date": "2019", "authors": "Ito A, Ohnuki Y, Suita K, Ishikawa M, Mototani Y, Shiozawa K, Kawamura N, Yagisawa Y, Nariyama M, Umeki D, Nakamura Y, Okumura S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30986276", "url": "https://glygen.org/publication/PubMed/30986276" } ] }, { "title": "Capsaicin Targets Lipogenesis in HepG2 Cells Through AMPK Activation, AKT Inhibition and PPARs Regulation.", "journal": "International journal of molecular sciences", "date": "2019", "authors": "Bort A, Sanchez BG, Mateos-Gomez PA, Diaz-Laviada I, Rodriguez-Henche N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30987128", "url": "https://glygen.org/publication/PubMed/30987128" } ] }, { "title": "Combined Targeting of Estrogen Receptor Alpha and XPO1 Prevent Akt Activation, Remodel Metabolic Pathways and Induce Autophagy to Overcome Tamoxifen Resistance.", "journal": "Cancers", "date": "2019", "authors": "Kulkoyluoglu-Cotul E, Smith BP, Wrobel K, Zhao YC, Chen KLA, Hieronymi K, Imir OB, Duong K, O'Callaghan C, Mehta A, Sahoo S, Haley B, Chang H, Landesman Y, Madak-Erdogan Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30987380", "url": "https://glygen.org/publication/PubMed/30987380" } ] }, { "title": "Advances in the role of HCV nonstructural protein 5a (NS5A) of 3a genotype in inducing insulin resistance by possible phosphorylation of AKT/PKB.", "journal": "Scientific reports", "date": "2019", "authors": "Shams F, Rafique S, Zahid S, Munir M, Idrees M, Ilyas M, Husnain T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30992506", "url": "https://glygen.org/publication/PubMed/30992506" } ] }, { "title": "Dual Targeting of Y-Box Binding Protein-1 and Akt Inhibits Proliferation and Enhances the Chemosensitivity of Colorectal Cancer Cells.", "journal": "Cancers", "date": "2019", "authors": "Maier E, Attenberger F, Tiwari A, Lettau K, Rebholz S, Fehrenbacher B, Schaller M, Gani C, Toulany M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31010234", "url": "https://glygen.org/publication/PubMed/31010234" } ] }, { "title": "Thymoquinone Augments Cyclophosphamide-Mediated\nInhibition of Cell Proliferation in Breast Cancer Cells", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2019-04-29", "authors": "Khan Arif, Aldebasi Yousef H, Alsuhaibani Sultan A, Khan Masood A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31030489", "url": "" } ] }, { "title": "High Expression of DEPDC1 Promotes Malignant Phenotypes of Breast Cancer Cells and Predicts Poor Prognosis in Patients With Breast Cancer.", "journal": "Frontiers in oncology", "date": "2019", "authors": "Zhao Huishan, Yu Mingwei, Sui Laijian, Gong Benjiao, Zhou Bo, Chen Jian, Gong Zhaohua, Hao Cuifang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31032225", "url": "https://glygen.org/publication/PubMed/31032225" } ] }, { "title": "Glutathione Peroxidase 1 Promotes NSCLC Resistance to Cisplatin via ROS-Induced Activation of PI3K/AKT Pathway.", "journal": "BioMed research international", "date": "2019", "authors": "Chen B, Shen Z, Wu D, Xie X, Xu X, Lv L, Dai H, Chen J, Gan X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31032363", "url": "https://glygen.org/publication/PubMed/31032363" } ] }, { "title": "MAGI1 Mediates eNOS Activation and NO Production in Endothelial Cells in Response to Fluid Shear Stress.", "journal": "Cells", "date": "2019", "authors": "Ghimire K, Zaric J, Alday-Parejo B, Seebach J, Bousquenaud M, Stalin J, Bieler G, Schnittler HJ, Ruegg C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31035633", "url": "https://glygen.org/publication/PubMed/31035633" } ] }, { "title": "Citrate-Induced p85\u03b1\u207bPTEN Complex Formation Causes G2/M Phase Arrest in Human Pharyngeal Squamous Carcinoma Cell Lines.", "journal": "International journal of molecular sciences", "date": "2019-04-29", "authors": "Hung Kuang-Chen, Wang Shyang-Guang, Lin Meng-Liang, Chen Shih-Shun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31035650", "url": "https://glygen.org/publication/PubMed/31035650" } ] }, { "title": "H2Se Induces Reductive Stress in HepG2 Cells and Activates Cell Autophagy by Regulating the Redox of HMGB1 Protein under Hypoxia.", "journal": "Theranostics", "date": "2019", "authors": "Pan X, Song X, Wang C, Cheng T, Luan D, Xu K, Tang B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31037139", "url": "https://glygen.org/publication/PubMed/31037139" } ] }, { "title": "Aryl Hydrocarbon Receptor Interacting Protein Maintains Germinal Center B Cells through Suppression of BCL6 Degradation.", "journal": "Cell reports", "date": "2019", "authors": "Sun D, Stopka-Farooqui U, Barry S, Aksoy E, Parsonage G, Vossenkamper A, Capasso M, Wan X, Norris S, Marshall JL, Clear A, Gribben J, MacDonald TT, Buckley CD, Korbonits M, Haworth O", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31042473", "url": "https://glygen.org/publication/PubMed/31042473" } ] }, { "title": "Akt and STAT5 mediate naive human CD4+ T-cell early metabolic response to TCR stimulation.", "journal": "Nature communications", "date": "2019", "authors": "Jones N, Vincent EE, Cronin JG, Panetti S, Chambers M, Holm SR, Owens SE, Francis NJ, Finlay DK, Thornton CA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31053703", "url": "https://glygen.org/publication/PubMed/31053703" } ] }, { "title": "Non-canonical Notch Signaling Regulates Actin Remodeling in Cell Migration by Activating PI3K/AKT/Cdc42 Pathway.", "journal": "Frontiers in pharmacology", "date": "2019", "authors": "Liu L, Zhang L, Zhao S, Zhao XY, Min PX, Ma YD, Wang YY, Chen Y, Tang SJ, Zhang YJ, Du J, Gu L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31057403", "url": "https://glygen.org/publication/PubMed/31057403" } ] }, { "title": "Upregulation of miR-214 Induced Radioresistance of Osteosarcoma by Targeting PHLDA2 via PI3K/Akt Signaling.", "journal": "Frontiers in oncology", "date": "2019", "authors": "Li Y, Song X, Liu Z, Li Q, Huang M, Su B, Mao Y, Wang Y, Mo W, Chen H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31058093", "url": "https://glygen.org/publication/PubMed/31058093" } ] }, { "title": "TLR4 counteracts BVRA signaling in human leukocytes via differential regulation of AMPK, mTORC1 and mTORC2.", "journal": "Scientific reports", "date": "2019", "authors": "Zhang Z, Amorosa LF, Petrova A, Coyle S, Macor M, Nair M, Lee LY, Haimovich B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31065010", "url": "https://glygen.org/publication/PubMed/31065010" } ] }, { "title": "The triacylglycerol, hydroxytriolein, inhibits triple negative mammary breast cancer cell proliferation through a mechanism dependent on dihydroceramide and Akt.", "journal": "Oncotarget", "date": "2019", "authors": "Guardiola-Serrano F, Beteta-Gobel R, Rodriguez-Lorca R, Ibarguren M, Lopez DJ, Teres S, Alonso-Sande M, Higuera M, Torres M, Busquets X, Escriba PV", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31069012", "url": "https://glygen.org/publication/PubMed/31069012" } ] }, { "title": "Insulin prevents and reverts simvastatin-induced toxicity in C2C12 skeletal muscle cells.", "journal": "Scientific reports", "date": "2019", "authors": "Sanvee GM, Bouitbir J, Krahenbuhl S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31092879", "url": "https://glygen.org/publication/PubMed/31092879" } ] }, { "title": "Metformin reverses PARP inhibitors-induced epithelial-mesenchymal transition and PD-L1 upregulation in triple-negative breast cancer.", "journal": "American journal of cancer research", "date": "2019", "authors": "Han Y, Li CW, Hsu JM, Hsu JL, Chan LC, Tan X, He GJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31106005", "url": "https://glygen.org/publication/PubMed/31106005" } ] }, { "title": "Stanniocalcin 1 in tumor microenvironment promotes metastasis of ovarian cancer.", "journal": "OncoTargets and therapy", "date": "2019", "authors": "Yang Y, Yin S, Li S, Chen Y, Yang L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31114228", "url": "https://glygen.org/publication/PubMed/31114228" } ] }, { "title": "Retinoic acid receptor alpha facilitates human colorectal cancer progression via Akt and MMP2 signaling.", "journal": "OncoTargets and therapy", "date": "2019", "authors": "Huang GL, Chen QX, Ma JJ, Sui SY, Wang YN, Shen DY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31118667", "url": "https://glygen.org/publication/PubMed/31118667" } ] }, { "title": "Simultaneous inhibition of PI3Kalpha and CDK4/6 synergistically suppresses KRAS-mutated non-small cell lung cancer.", "journal": "Cancer biology & medicine", "date": "2019", "authors": "Wang Y, Li X, Liu X, Chen Y, Yang C, Tan C, Wang B, Sun Y, Zhang X, Gao Y, Ding J, Meng L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31119047", "url": "https://glygen.org/publication/PubMed/31119047" } ] }, { "title": "Dihydrotestosterone increases the risk of bladder cancer in men.", "journal": "Human cell", "date": "2019", "authors": "Gil D, Zarzycka M, Dulinska-Litewka J, Ciolczyk-Wierzbicka D, Lekka M, Laidler P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31119584", "url": "https://glygen.org/publication/PubMed/31119584" } ] }, { "title": "Profilin 2 Promotes Proliferation and Metastasis of Head and Neck Cancer Cells by Regulating PI3K/AKT/beta-Catenin Signaling Pathway.", "journal": "Oncology research", "date": "2019", "authors": "Zhou K, Chen J, Wu J, Xu Y, Wu Q, Yue J, Song Y, Li S, Zhou P, Tu W, Yang G, Jiang S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31122311", "url": "https://glygen.org/publication/PubMed/31122311" } ] }, { "title": "The histone H3 lysine-27 demethylase UTX plays a critical role in colorectal cancer cell proliferation.", "journal": "Cancer cell international", "date": "2019", "authors": "Tang X, Cai W, Cheng J, Lu P, Ma S, Chen C, Chen Y, Sun Y, Wang C, Hu P, Lv X, Sun G, Wang Y, Sheng J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31139021", "url": "https://glygen.org/publication/PubMed/31139021" } ] }, { "title": "Dopamine-Induced Ascorbate Release From Retinal Neurons Involves Glutamate Release, Activation of AMPA/Kainate Receptors and Downstream Signaling Pathways.", "journal": "Frontiers in neuroscience", "date": "2019", "authors": "Portugal CC, da Encarnacao TG, Domith I, Dos Santos Rodrigues A, de Oliveira NA, Socodato R, Paes-de-Carvalho R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31143097", "url": "https://glygen.org/publication/PubMed/31143097" } ] }, { "title": "Strictinin, a novel ROR1-inhibitor, represses triple negative breast cancer survival and migration via modulation of PI3K/AKT/GSK3ss activity.", "journal": "PloS one", "date": "2019", "authors": "Fultang N, Illendula A, Chen B, Wu C, Jonnalagadda S, Baird N, Klase Z, Peethambaran B", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31150511", "url": "https://glygen.org/publication/PubMed/31150511" } ] }, { "title": "The Oncogene IARS2 Promotes Non-small Cell Lung Cancer Tumorigenesis by Activating the AKT/MTOR Pathway.", "journal": "Frontiers in oncology", "date": "2019", "authors": "Di X, Jin X, Ma H, Wang R, Cong S, Tian C, Liu J, Zhao M, Li R, Wang K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31157169", "url": "https://glygen.org/publication/PubMed/31157169" } ] }, { "title": "MiR-505 suppressed the growth of hepatocellular carcinoma cells via targeting IGF-1R.", "journal": "Bioscience reports", "date": "2019", "authors": "Ren L, Yao Y, Wang Y, Wang S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31160483", "url": "https://glygen.org/publication/PubMed/31160483" } ] }, { "title": "IGFBP7 inhibits cell proliferation by suppressing AKT activity and cell cycle progression in thyroid carcinoma.", "journal": "Cell & bioscience", "date": "2019", "authors": "Zhang L, Lian R, Zhao J, Feng X, Ye R, Pan L, Wu J, Li M, Huan Y, Cai J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31183073", "url": "https://glygen.org/publication/PubMed/31183073" } ] }, { "title": "ZINC4085554 inhibits cancer cell adhesion by interfering with the interaction of Akt1 and FAK.", "journal": "Oncology letters", "date": "2019", "authors": "More SK, Vomhof-Dekrey EE, Basson MD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31186741", "url": "https://glygen.org/publication/PubMed/31186741" } ] }, { "title": "Screening of Inhibitory Effects of Polyphenols on Akt-Phosphorylation in Endothelial Cells and Determination of Structure-Activity Features.", "journal": "Biomolecules", "date": "2019", "authors": "Dirimanov S, Hogger P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31195734", "url": "https://glygen.org/publication/PubMed/31195734" } ] }, { "title": "Cellular Effects of Butyrate on Vascular Smooth Muscle Cells are Mediated through Disparate Actions on Dual Targets, Histone Deacetylase (HDAC) Activity and PI3K/Akt Signaling Network.", "journal": "International journal of molecular sciences", "date": "2019", "authors": "Mathew OP, Ranganna K, Mathew J, Zhu M, Yousefipour Z, Selvam C, Milton SG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31197106", "url": "https://glygen.org/publication/PubMed/31197106" } ] }, { "title": "SGLT1 is required for the survival of triple-negative breast cancer cells via potentiation of EGFR activity.", "journal": "Molecular oncology", "date": "2019", "authors": "Liu H, Ertay A, Peng P, Li J, Liu D, Xiong H, Zou Y, Qiu H, Hancock D, Yuan X, Huang WC, Ewing RM, Downward J, Wang Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31199048", "url": "https://glygen.org/publication/PubMed/31199048" } ] }, { "title": "miR-126-3p down-regulation contributes to dabrafenib acquired resistance in melanoma by up-regulating ADAM9 and VEGF-A.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2019", "authors": "Caporali S, Amaro A, Levati L, Alvino E, Lacal PM, Mastroeni S, Ruffini F, Bonmassar L, Antonini Cappellini GC, Felli N, Care A, Pfeffer U, D'Atri S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31227006", "url": "https://glygen.org/publication/PubMed/31227006" } ] }, { "title": "Carnosine inhibits glioblastoma growth independent from PI3K/Akt/mTOR signaling.", "journal": "PloS one", "date": "2019", "authors": "Oppermann H, Faust H, Yamanishi U, Meixensberger J, Gaunitz F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31247000", "url": "https://glygen.org/publication/PubMed/31247000" } ] }, { "title": "Peroxisome Proliferator Activated Receptor Gamma Sensitizes Non-small Cell Lung Carcinoma to Gamma Irradiation Induced Apoptosis.", "journal": "Frontiers in genetics", "date": "2019", "authors": "Kaur S, Nag A, Gangenahalli G, Sharma K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31263479", "url": "https://glygen.org/publication/PubMed/31263479" } ] }, { "title": "Rosiglitazone in the thawing medium improves mitochondrial function in stallion spermatozoa through regulating Akt phosphorylation and reduction of caspase 3.", "journal": "PloS one", "date": "2019", "authors": "Ortiz-Rodriguez JM, Balao da Silva C, Masot J, Redondo E, Gazquez A, Tapia JA, Gil C, Ortega-Ferrusola C, Pena FJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31276504", "url": "https://glygen.org/publication/PubMed/31276504" } ] }, { "title": "RUNX2 overexpression and PTEN haploinsufficiency cooperate to promote CXCR7 expression and cellular trafficking, AKT hyperactivation and prostate tumorigenesis.", "journal": "Theranostics", "date": "2019", "authors": "Bai Y, Yang Y, Yan Y, Zhong J, Blee AM, Pan Y, Ma T, Karnes RJ, Jimenez R, Xu W, Huang H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31281490", "url": "https://glygen.org/publication/PubMed/31281490" } ] }, { "title": "Metformin Enhances Nomegestrol Acetate Suppressing Growth of Endometrial Cancer Cells and May Correlate to Downregulating mTOR Activity In Vitro and In Vivo.", "journal": "International journal of molecular sciences", "date": "2019", "authors": "Cao C, Zhou JY, Xie SW, Guo XJ, Li GT, Gong YJ, Yang WJ, Li Z, Zhong RH, Shao HH, Zhu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31284427", "url": "https://glygen.org/publication/PubMed/31284427" } ] }, { "title": "Vitamin D attenuates lipopolysaccharide-induced inflammatory response in endothelial cells through inhibition of PI3K/Akt/NF-kappaB signaling pathway.", "journal": "Die Pharmazie", "date": "2019", "authors": "Zhou W, Yuan G, Wang Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31288897", "url": "https://glygen.org/publication/PubMed/31288897" } ] }, { "title": "Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.", "journal": "Molecular genetics & genomic medicine", "date": "2019", "authors": "Zollino M, Ranieri C, Grossi V, Leoni C, Lattante S, Mazza D, Simone C, Resta N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31290289", "url": "https://glygen.org/publication/PubMed/31290289" } ] }, { "title": "MEK inhibition drives anti-viral defence in RV but not RSV challenged human airway epithelial cells through AKT/p70S6K/4E-BP1 signalling.", "journal": "Cell communication and signaling : CCS", "date": "2019", "authors": "Baturcam E, Vollmer S, Schluter H, Maciewicz RA, Kurian N, Vaarala O, Ludwig S, Cunoosamy DM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31319869", "url": "https://glygen.org/publication/PubMed/31319869" } ] }, { "title": "Silencing of Synuclein-gamma inhibits human cervical cancer through the AKT signaling pathway.", "journal": "Cellular & molecular biology letters", "date": "2019", "authors": "Zhang C, Gu L, Li X, Wang J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31333726", "url": "https://glygen.org/publication/PubMed/31333726" } ] }, { "title": "Pyruvate Plays a Main Role in the Antitumoral Selectivity of Cold Atmospheric Plasma in Osteosarcoma.", "journal": "Scientific reports", "date": "2019", "authors": "Tornin J, Mateu-Sanz M, Rodriguez A, Labay C, Rodriguez R, Canal C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31337843", "url": "https://glygen.org/publication/PubMed/31337843" } ] }, { "title": "EGF-activated PI3K/Akt signalling coordinates leucine uptake by regulating LAT3 expression in prostate cancer.", "journal": "Cell communication and signaling : CCS", "date": "2019", "authors": "Zhang BK, Moran AM, Bailey CG, Rasko JEJ, Holst J, Wang Q", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31345230", "url": "https://glygen.org/publication/PubMed/31345230" } ] }, { "title": "Genome atlas analysis based profiling of Akt pathway genes in the early and advanced human prostate cancer.", "journal": "Oncoscience", "date": "2019", "authors": "Alwhaibi A, Kolhe R, Gao F, Cobran EK, Somanath PR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31360736", "url": "https://glygen.org/publication/PubMed/31360736" } ] }, { "title": "Colorectal cancer cells respond differentially to autophagy inhibition in vivo.", "journal": "Scientific reports", "date": "2019", "authors": "Lauzier A, Normandeau-Guimond J, Vaillancourt-Lavigueur V, Boivin V, Charbonneau M, Rivard N, Scott MS, Dubois CM, Jean S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31383875", "url": "https://glygen.org/publication/PubMed/31383875" } ] }, { "title": "Disruption of the RICTOR/mTORC2 complex enhances the response of head and neck squamous cell carcinoma cells to PI3K inhibition.", "journal": "Molecular oncology", "date": "2019-10", "authors": "Ruicci Kara M, Plantinga Paul, Pinto Nicole, Khan Mohammed I, Stecho William, Dhaliwal Sandeep S, Yoo John, Fung Kevin, MacNeil Danielle, Mymryk Joe S, Barrett John W, Howlett Christopher J, Nichols Anthony C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31393061", "url": "https://glygen.org/publication/PubMed/31393061" } ] }, { "title": "The isothiocyanate sulforaphane inhibits mTOR in an NRF2-independent manner.", "journal": "Phytomedicine : international journal of phytotherapy and phytopharmacology", "date": "2019", "authors": "Zhang Y, Gilmour A, Ahn YH, de la Vega L, Dinkova-Kostova AT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31409554", "url": "https://glygen.org/publication/PubMed/31409554" } ] }, { "title": "PKC\u03b1 is required for Akt-mTORC1 activation in non-small cell lung carcinoma (NSCLC) with EGFR mutation.", "journal": "Oncogene", "date": "2019-11", "authors": "Salama Mohamed F, Liu Mengling, Clarke Christopher J, Espaillat Mel Pilar, Haley John D, Jin Ting, Wang Daifeng, Obeid Lina M, Hannun Yusuf A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31420605", "url": "https://glygen.org/publication/PubMed/31420605" } ] }, { "title": "LSD1 Activates PI3K/AKT Signaling Through Regulating p85 Expression in Prostate Cancer Cells.", "journal": "Frontiers in oncology", "date": "2019", "authors": "Wang Zifeng, Gao Shuai, Han Dong, Han Wanting, Li Muqing, Cai Changmeng", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31428587", "url": "https://glygen.org/publication/PubMed/31428587" } ] }, { "title": "Microgravity inhibits decidualization via decreasing Akt activity and FOXO3a expression in human endometrial stromal cells.", "journal": "Scientific reports", "date": "2019", "authors": "Cho HJ, Baek MO, Khaliq SA, Chon SJ, Son KH, Lee SH, Yoon MS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31431660", "url": "https://glygen.org/publication/PubMed/31431660" } ] }, { "title": "Elucidating essential kinases of endothelin signalling by logic modelling of phosphoproteomics data.", "journal": "Molecular systems biology", "date": "2019", "authors": "Schafer A, Gjerga E, Welford RW, Renz I, Lehembre F, Groenen PM, Saez-Rodriguez J, Aebersold R, Gstaiger M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31464372", "url": "https://glygen.org/publication/PubMed/31464372" } ] }, { "title": "FAK-Copy-Gain Is a Predictive Marker for Sensitivity to FAK Inhibition in Breast Cancer.", "journal": "Cancers", "date": "2019-09-02", "authors": "Kim Young-Ho, Kim Hyun-Kyoung, Kim Hee Yeon, Gawk HyeRan, Bae Seung-Hyun, Sim Hye Won, Kang Eun-Kyung, Seoh Ju-Young, Jang Hyonchol, Hong Kyeong-Man", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31480645", "url": "https://glygen.org/publication/PubMed/31480645" } ] }, { "title": "The E3 ligase MuRF2 plays a key role in the functional capacity of skeletal muscle fibroblasts.", "journal": "Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas", "date": "2019", "authors": "Silvestre J G, Baptista I L, Silva W J, Cruz A, Silva M T, Miyabara E H, Labeit S, Moriscot A S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31482977", "url": "https://glygen.org/publication/PubMed/31482977" } ] }, { "title": "Oxymatrine reverses epithelial-mesenchymal transition in breast cancer cells by depressing \u03b1\u2164\u03b23 integrin/FAK/PI3K/Akt signaling activation.", "journal": "OncoTargets and therapy", "date": "2019", "authors": "Chen Yan, Chen Lin, Zhang Jing-Yu, Chen Zong-Yue, Liu Ting-Ting, Zhang Yan-Yan, Fu Ling-Yun, Fan Shuang-Qin, Zhang Min-Qin, Gan Shi-Quan, Zhang Nen-Ling, Shen Xiang-Chun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31496729", "url": "https://glygen.org/publication/PubMed/31496729" } ] }, { "title": "Chinese Herbal Medicine Ganoderma tsugae Displays Potential Anti-Cancer Efficacy on Metastatic Prostate Cancer Cells.", "journal": "International journal of molecular sciences", "date": "2019-09-08", "authors": "Huang Wen-Chin, Chang Meng-Shiun, Huang Shih-Yin, Tsai Ching-Ju, Kuo Pin-Hung, Chang Han-Wen, Huang Sheng-Teng, Kuo Chao-Lin, Lee Shou-Lun, Kao Ming-Ching", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31500366", "url": "https://glygen.org/publication/PubMed/31500366" } ] }, { "title": "Stimulation of mTORC2 by integrin \u03b1IIb\u03b23 is required for PI3K\u03b2-dependent activation of Akt but is dispensable for platelet spreading on fibrinogen.", "journal": "Platelets", "date": "2020-05-18", "authors": "Torti Mauro, Manganaro Daria, Visconte Caterina, Zar\u00e0 Marta, Canino Jessica, Vismara Mauro, Canobbio Ilaria, Guidetti Gianni Francesco", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31509054", "url": "https://glygen.org/publication/PubMed/31509054" } ] }, { "title": "An Autocrine Wnt5a Loop Promotes NF-\u03baB Pathway Activation and Cytokine/Chemokine Secretion in Melanoma.", "journal": "Cells", "date": "2019-09-10", "authors": "Barbero Gast\u00f3n, Castro Mar\u00eda Victoria, Villanueva Mar\u00eda Bel\u00e9n, Quezada Mar\u00eda Josefina, Fern\u00e1ndez Natalia Brenda, DeMorrow Sharon, Lopez-Bergami Pablo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31510045", "url": "https://glygen.org/publication/PubMed/31510045" } ] }, { "title": "cAMP- and cGMP-elevating agents inhibit GPIb\u03b1-mediated aggregation but not GPIb\u03b1-stimulated Syk activation in human platelets.", "journal": "Cell communication and signaling : CCS", "date": "2019-09-13", "authors": "Makhoul Stephanie, Trabold Katharina, Gambaryan Stepan, Tenzer Stefan, Pillitteri Daniele, Walter Ulrich, Jurk Kerstin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31519182", "url": "https://glygen.org/publication/PubMed/31519182" } ] }, { "title": "CHL1 suppresses tumor growth and metastasis in nasopharyngeal carcinoma by repressing PI3K/AKT signaling pathway via interaction with Integrin \u03b21 and Merlin.", "journal": "International journal of biological sciences", "date": "2019", "authors": "Chen Juan, Jiang Chen, Fu Li, Zhu Cai-Lei, Xiang Yan-Qun, Jiang Ling-Xi, Chen Qian, Liu Wai Man, Chen Jin-Na, Zhang Li-Yi, Liu Ming, Chen Chao, Tang Hong, Wang Bo, Tsao Sai Wah, Kwong Dora Lai-Wan, Guan Xin-Yuan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31523184", "url": "https://glygen.org/publication/PubMed/31523184" } ] }, { "title": "Homer1 mediates CaSR-dependent activation of mTOR complex 2 and initiates a novel pathway for AKT-dependent \u03b2-catenin stabilization in osteoblasts.", "journal": "The Journal of biological chemistry", "date": "2019-11-01", "authors": "Rybchyn Mark S, Islam Kazi S, Brennan-Speranza Tara C, Cheng Zhiqiang, Brennan Sarah C, Chang Wenhan, Mason Rebecca S, Conigrave Arthur David", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31527082", "url": "https://glygen.org/publication/PubMed/31527082" } ] }, { "title": "Adipocytes promote ovarian cancer chemoresistance.", "journal": "Scientific reports", "date": "2019-09-16", "authors": "Yang Jiang, Zaman Munir M, Vlasakov Iliyan, Roy Roopali, Huang Lan, Martin Camilia R, Freedman Steven D, Serhan Charles N, Moses Marsha A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31527632", "url": "https://glygen.org/publication/PubMed/31527632" } ] }, { "title": "Allosteric AKT Inhibitors Target Synthetic Lethal Vulnerabilities in E-Cadherin-Deficient Cells.", "journal": "Cancers", "date": "2019-09-13", "authors": "Bougen-Zhukov Nicola, Nouri Yasmin, Godwin Tanis, Taylor Megan, Hakkaart Christopher, Single Andrew, Brew Tom, Permina Elizabeth, Chen Augustine, Black Michael A, Guilford Parry", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31540244", "url": "https://glygen.org/publication/PubMed/31540244" } ] }, { "title": "Mechanism of Action of the Tumor Vessel Targeting Agent NGR-hTNF: Role of Both NGR Peptide and hTNF in Cell Binding and Signaling.", "journal": "International journal of molecular sciences", "date": "2019-09-12", "authors": "Valentinis Barbara, Porcellini Simona, Asperti Claudia, Cota Manuela, Zhou Dan, Di Matteo Paola, Garau Gianpiero, Zucchelli Chiara, Avanzi Nilla Roberta, Rizzardi Gian Paolo, Degano Massimo, Musco Giovanna, Traversari Catia", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31547231", "url": "https://glygen.org/publication/PubMed/31547231" } ] }, { "title": "Assessment of the Molecular Mechanism of Action of SB3, a Trastuzumab Biosimilar.", "journal": "BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy", "date": "2019-12", "authors": "Paek Kyungyeol, Kim Go-Woon, Ahn So Yeong, Lim Joon Hyuk, Jung Dongkeum, Kim Seokkyun, Lee Jae Hee", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31549311", "url": "https://glygen.org/publication/PubMed/31549311" } ] }, { "title": "Identification of the PTEN-ARID4B-PI3K pathway reveals the dependency on ARID4B by PTEN-deficient prostate cancer.", "journal": "Nature communications", "date": "2019", "authors": "Wu RC, Young IC, Chen YF, Chuang ST, Toubaji A, Wu MY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31551414", "url": "https://glygen.org/publication/PubMed/31551414" } ] }, { "title": "Akt inhibition synergizes with polycomb repressive complex 2 inhibition in the treatment of multiple myeloma.", "journal": "Cancer science", "date": "2019-12", "authors": "Rizk Mohamed, Rizq Ola, Oshima Motohiko, Nakajima-Takagi Yaeko, Koide Shuhei, Saraya Atsunori, Isshiki Yusuke, Chiba Tetsuhiro, Yamazaki Satoshi, Ma Anqi, Jin Jian, Iwama Atsushi, Mimura Naoya", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31571328", "url": "https://glygen.org/publication/PubMed/31571328" } ] }, { "title": "Inhibition of esophageal cancer growth through the suppression of PI3K/AKT/mTOR signaling pathway.", "journal": "OncoTargets and therapy", "date": "2019", "authors": "Shi Ni, Yu Hao, Chen Tong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31571914", "url": "https://glygen.org/publication/PubMed/31571914" } ] }, { "title": "Upregulation of OTUD7B (Cezanne) Promotes Tumor Progression via AKT/VEGF Pathway in Lung Squamous Carcinoma and Adenocarcinoma.", "journal": "Frontiers in oncology", "date": "2019", "authors": "Lin Dan-Dan, Shen Yang, Qiao Shu, Liu Wen-Wen, Zheng Lishuang, Wang Ya-Nan, Cui Naipeng, Wang Yun-Fan, Zhao Shuli, Shi Jian-Hong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31572671", "url": "https://glygen.org/publication/PubMed/31572671" } ] }, { "title": "Downregulated miR-21 mediates matrine-induced apoptosis via the PTEN/Akt signaling pathway in FTC-133 human follicular thyroid cancer cells.", "journal": "Oncology letters", "date": "2019-10", "authors": "Li Quanliang, Zhang Shuya, Wang Mingyu, Dong Shouguang, Wang Yan, Liu Song, Lu Tiancheng, Fu Yuqin, Wang Xiuran, Chen Guihong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31579406", "url": "https://glygen.org/publication/PubMed/31579406" } ] }, { "title": "Hyperglycemia-Induced Oxidative Stress Abrogates Remifentanil Preconditioning-Mediated Cardioprotection in Diabetic Rats by Impairing Caveolin-3-Modulated PI3K/Akt and JAK2/STAT3 Signaling.", "journal": "Oxidative medicine and cellular longevity", "date": "2019", "authors": "Lei Shaoqing, Su Wating, Xia Zhong-Yuan, Wang Yafeng, Zhou Lu, Qiao Shigang, Zhao Bo, Xia Zhengyuan, Irwin Michael G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31583053", "url": "https://glygen.org/publication/PubMed/31583053" } ] }, { "title": "A key role for the novel coronary artery disease gene JCAD in atherosclerosis via shear stress mechanotransduction.", "journal": "Cardiovascular research", "date": "2020", "authors": "Douglas G, Mehta V, Al Haj Zen A, Akoumianakis I, Goel A, Rashbrook VS, Trelfa L, Donovan L, Drydale E, Chuaiphichai S, Antoniades C, Watkins H, Kyriakou T, Tzima E, Channon KM", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31584065", "url": "https://glygen.org/publication/PubMed/31584065" } ] }, { "title": "d-a-Tocopheryl Polyethylene Glycol 1000 Succinate and a small-molecule Survivin suppressant synergistically induce apoptosis in SKBR3 breast cancer cells.", "journal": "Scientific reports", "date": "2019-10-07", "authors": "Neophytou Christiana M, Mesaritis Avgoustinos, Gregoriou Gregoria, Constantinou Andreas I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31591437", "url": "https://glygen.org/publication/PubMed/31591437" } ] }, { "title": "Positive Effects of PI3K/Akt Signaling Inhibition on PTEN and P53 in Prevention of Acute Lymphoblastic Leukemia Tumor Cells.", "journal": "Advanced pharmaceutical bulletin", "date": "2019-08", "authors": "Naderali Elahe, Valipour Behnaz, Khaki Amir Afshin, Soleymani Rad Jafar, Alihemmati Alireza, Rahmati Mohammad, Nozad Charoudeh Hojjatollah", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31592121", "url": "https://glygen.org/publication/PubMed/31592121" } ] }, { "title": "Ninjurin 2 overexpression promotes human colorectal cancer cell growth in vitro and in vivo.", "journal": "Aging", "date": "2019-10-09", "authors": "Li Gang, Zhou Li-Na, Yang Han, He Xixi, Duan Yuxia, Wu Fang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31597121", "url": "https://glygen.org/publication/PubMed/31597121" } ] }, { "title": "PP2Ac upregulates PI3K-Akt signaling and induces hepatocyte apoptosis in liver donor after brain death.", "journal": "Apoptosis : an international journal on programmed cell death", "date": "2019-12", "authors": "Xiong Yan, Lan Jianan, Huang Kaixin, Zhang Yaruo, Zheng Lewei, Wang Yanfeng, Ye Qifa", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31605257", "url": "https://glygen.org/publication/PubMed/31605257" } ] }, { "title": "In silico chemical screening identifies epidermal growth factor receptor as a therapeutic target of drug-tolerant CD44v9-positive gastric cancer cells.", "journal": "British journal of cancer", "date": "2019-11", "authors": "Mashima Tetsuo, Iwasaki Risa, Kawata Naomi, Kawakami Ryuhei, Kumagai Koshi, Migita Toshiro, Sano Takeshi, Yamaguchi Kensei, Seimiya Hiroyuki", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31607750", "url": "https://glygen.org/publication/PubMed/31607750" } ] }, { "title": "Liraglutide Treatment Ameliorates Neurotoxicity Induced by Stable Silencing of Pin1.", "journal": "International journal of molecular sciences", "date": "2019-10-12", "authors": "Bianchi Marzia, D'Oria Valentina, Braghini Maria Rita, Petrini Stefania, Manco Melania", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31614723", "url": "https://glygen.org/publication/PubMed/31614723" } ] }, { "title": "TGF\u03b2 induces stemness through non-canonical AKT-FOXO3a axis in oral squamous cell carcinoma.", "journal": "EBioMedicine", "date": "2019-10", "authors": "Li Kan, Yang Le, Li Jingyuan, Guan Chenyu, Zhang Sien, Lao Xiaomei, Ouyang Daiqiao, Zheng Guangsen, Gao Siyong, Wang Dikan, Liang Yujie, Liao Guiqing", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31629677", "url": "https://glygen.org/publication/PubMed/31629677" } ] }, { "title": "The KLF6 splice variant KLF6-SV1 promotes proliferation and invasion of non-small cell lung cancer by up-regultating PI3K-AKT signaling pathway.", "journal": "Journal of Cancer", "date": "2019", "authors": "Zhang Nan, Yan Qian-Qian, Lu Lu, Shao Jing-Bo, Sun Zhi-Gang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31632477", "url": "https://glygen.org/publication/PubMed/31632477" } ] }, { "title": "Caveolin-1 Regulates P2Y2 Receptor Signaling during Mechanical Injury in Human 1321N1 Astrocytoma.", "journal": "Biomolecules", "date": "2019-10-18", "authors": "Mart\u00ednez Magdiel, Mart\u00ednez Namyr A, Miranda Jorge D, Maldonado H\u00e9ctor M, Silva Ortiz Walter I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31635212", "url": "https://glygen.org/publication/PubMed/31635212" } ] }, { "title": "Distinct Signaling Pathways Regulate TREM2 Phagocytic and NF\u03baB Antagonistic Activities.", "journal": "Frontiers in cellular neuroscience", "date": "2019", "authors": "Yao Hailan, Coppola Kyle, Schweig Jonas Elias, Crawford Fiona, Mullan Michael, Paris Daniel", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31649511", "url": "https://glygen.org/publication/PubMed/31649511" } ] }, { "title": "The Synthetic Dipeptide Pidotimod Shows a Chemokine-Like Activity through CXC Chemokine Receptor 3 (CXCR3).", "journal": "International journal of molecular sciences", "date": "2019-10-24", "authors": "Caccuri Francesca, Bugatti Antonella, Corbellini Silvia, Roversi Sara, Zani Alberto, Mazzuca Pietro, Marsico Stefania, Caruso Arnaldo, Giagulli Cinzia", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31653015", "url": "https://glygen.org/publication/PubMed/31653015" } ] }, { "title": "LncRNA NKILA integrates RXFP1/AKT and NF-\u03baB signalling to regulate osteogenesis of mesenchymal stem cells.", "journal": "Journal of cellular and molecular medicine", "date": "2020-01", "authors": "Zhang Ying, Cao Xiangyang, Li Peifeng, Fan Yanan, Zhang Leilei, Ma Xianghao, Sun Ruibo, Liu Youwen, Li Wuyin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31657882", "url": "https://glygen.org/publication/PubMed/31657882" } ] }, { "title": "miR\u2011593 inhibits proliferation and invasion and promotes apoptosis in non\u2011small cell lung cancer cells by targeting SLUG\u2011associated signaling pathways.", "journal": "Molecular medicine reports", "date": "2019-12", "authors": "Wei Fang, Wang Mofei, Li Zhen, Wang Yong, Zhou Yong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31661137", "url": "https://glygen.org/publication/PubMed/31661137" } ] }, { "title": "PRMT5 Promotes Human Lung Cancer Cell Apoptosis via Akt/Gsk3\u03b2 Signaling Induced by Resveratrol.", "journal": "Cell transplantation", "date": "2019-12", "authors": "Li Yong, Yang Yanxia, Liu Xiaoping, Long Yiwen, Zheng Yonghua", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31665911", "url": "https://glygen.org/publication/PubMed/31665911" } ] }, { "title": "Dexmedetomidine alleviates insulin resistance in hepatocytes by reducing endoplasmic reticulum stress.", "journal": "Endocrine", "date": "2020-01", "authors": "Liu Fanfan, Zhu Shaojun, Ni Lifeng, Huang Ling'er, Wang Kuirong, Zhou Yanfeng", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31679138", "url": "https://glygen.org/publication/PubMed/31679138" } ] }, { "title": "Akt Regulated Phosphorylation of GSK-3\u03b2/Cyclin D1, p21 and p27 Contributes to Cell Proliferation Through Cell Cycle Progression From G1 to S/G2M Phase in Low-Dose Arsenite Exposed HaCat Cells.", "journal": "Frontiers in pharmacology", "date": "2019", "authors": "Chen Yao, Liu Xudan, Wang Huanhuan, Liu Shiyi, Hu Nannan, Li Xin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31680960", "url": "https://glygen.org/publication/PubMed/31680960" } ] }, { "title": "Piperlongumine Inhibits Akt Phosphorylation to Reverse Resistance to Cisplatin in Human Non-Small Cell Lung Cancer Cells via ROS Regulation.", "journal": "Frontiers in pharmacology", "date": "2019", "authors": "Zhang Chao, He Lian-Jun, Zhu Yi-Bao, Fan Qing-Zhu, Miao Dong-Dong, Zhang Sheng-Peng, Zhao Wen-Ying, Liu Xiao-Ping", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31680961", "url": "https://glygen.org/publication/PubMed/31680961" } ] }, { "title": "Insulin-like growth factor 2 mRNA-binding protein 1 promotes cell proliferation via activation of AKT and is directly targeted by microRNA-494 in pancreatic cancer.", "journal": "World journal of gastroenterology", "date": "2019-10-28", "authors": "Wan Bai-Shun, Cheng Ming, Zhang Ling", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31686763", "url": "https://glygen.org/publication/PubMed/31686763" } ] }, { "title": "Protective autophagy or autophagic death: effects of BEZ235 on chronic myelogenous leukemia.", "journal": "Cancer management and research", "date": "2019", "authors": "Xin Pengliang, Xu Wenqian, Zhu Xiongpeng, Li Chuntuan, Zheng Yan, Zheng Tingjin, Cheng Wenzhao, Peng Qunyi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31686909", "url": "https://glygen.org/publication/PubMed/31686909" } ] }, { "title": "Quantitative Proteomics Reveal Peroxiredoxin Perturbation Upon Persistent Lymphocytic Choriomeningitis Virus Infection in Human Cells.", "journal": "Frontiers in microbiology", "date": "2019", "authors": "Benej Martin, Danchenko Maksym, Oveckova Ingrid, Cervenak Filip, Tomaska Lubomir, Grossmannova Katarina, Polcicova Katarina, Golias Tereza, Tomaskova Jana", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31708904", "url": "https://glygen.org/publication/PubMed/31708904" } ] }, { "title": "HIF-mediated Suppression of DEPTOR Confers Resistance to mTOR Kinase Inhibition in Renal Cancer.", "journal": "iScience", "date": "2019-11-22", "authors": "Doan Hong, Parsons Alexander, Devkumar Shruthi, Selvarajah Jogitha, Miralles Francesc, Carroll Veronica A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31710966", "url": "https://glygen.org/publication/PubMed/31710966" } ] }, { "title": "The inhibition of Bax activation-induced apoptosis by RasGRP2 via R-Ras-PI3K-Akt signaling pathway in the endothelial cells.", "journal": "Scientific reports", "date": "2019", "authors": "Takino JI, Sato T, Nagamine K, Hori T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31723205", "url": "https://glygen.org/publication/PubMed/31723205" } ] }, { "title": "Host signaling and EGR1 transcriptional control of human cytomegalovirus replication and latency.", "journal": "PLoS pathogens", "date": "2019-11", "authors": "Buehler Jason, Carpenter Ethan, Zeltzer Sebastian, Igarashi Suzu, Rak Michael, Mikell Iliyana, Nelson Jay A, Goodrum Felicia", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31725811", "url": "https://glygen.org/publication/PubMed/31725811" } ] }, { "title": "CDK5RAP3 inhibits angiogenesis in gastric neuroendocrine carcinoma by modulating AKT/HIF-1\u03b1/VEGFA signaling.", "journal": "Cancer cell international", "date": "2019", "authors": "Lin Jian-Xian, Weng Xiong-Feng, Xie Xin-Sheng, Lian Ning-Zi, Qiu Sheng-Liang, Wang Jia-Bin, Lu Jun, Chen Qi-Yue, Cao Long-Long, Lin Mi, Tu Ru-Hong, Yang Ying-Hong, Liu Si-Jia, Hu Min, Lin Yi-Ke, Huang Chang-Ming, Zheng Chao-Hui, Li Ping, Xie Jian-Wei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31728130", "url": "https://glygen.org/publication/PubMed/31728130" } ] }, { "title": "Aspirin enhances cisplatin sensitivity of resistant non-small cell lung carcinoma stem-like cells by targeting mTOR-Akt axis to repress migration.", "journal": "Scientific reports", "date": "2019-11-15", "authors": "Khan Poulami, Bhattacharya Apoorva, Sengupta Debomita, Banerjee Shruti, Adhikary Arghya, Das Tanya", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31729456", "url": "https://glygen.org/publication/PubMed/31729456" } ] }, { "title": "Integration of TGF-\u03b2-induced Smad signaling in the insulin-induced transcriptional response in endothelial cells.", "journal": "Scientific reports", "date": "2019-11-18", "authors": "Budi Erine H, Hoffman Steven, Gao Shaojian, Zhang Ying E, Derynck Rik", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31740700", "url": "https://glygen.org/publication/PubMed/31740700" } ] }, { "title": "Knockdown of ISOC1 inhibits the proliferation and migration and induces the apoptosis of colon cancer cells through the AKT/GSK-3beta pathway.", "journal": "Carcinogenesis", "date": "2020", "authors": "Gao B, Zhao L, Wang F, Bai H, Li J, Li M, Hu X, Cao J, Wang G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31740942", "url": "https://glygen.org/publication/PubMed/31740942" } ] }, { "title": "Dihydroartemisinin Induces Endothelial Cell Autophagy through Suppression of the Akt/mTOR Pathway.", "journal": "Journal of Cancer", "date": "2019", "authors": "Liu Jing, Ren Yanjun, Hou Yinglong, Zhang Caiqing, Wang Bei, Li Xiaorui, Sun Rong, Liu Ju", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31762815", "url": "https://glygen.org/publication/PubMed/31762815" } ] }, { "title": "Association of Extracellular Vesicle Protein Cargo with Race and Clinical Markers of Mortality.", "journal": "Scientific reports", "date": "2019-11-26", "authors": "Noren Hooten Nicole, McFarland Minna H, Freeman David W, Mode Nicolle A, Ezike Ngozi, Zonderman Alan B, Evans Michele K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31772226", "url": "https://glygen.org/publication/PubMed/31772226" } ] }, { "title": "In Vitro and In Vivo Antitumor Activity of Cucurbitacin C, a Novel Natural Product From Cucumber.", "journal": "Frontiers in pharmacology", "date": "2019", "authors": "Wu Dinglan, Wang Zhu, Lin Muqi, Shang Yi, Wang Fei, Zhou JiaYi, Wang Fei, Zhang Xiantong, Luo Xiaomin, Huang Weiren", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31780930", "url": "https://glygen.org/publication/PubMed/31780930" } ] }, { "title": "Role of PI3K/Akt and MEK/ERK Signalling in cAMP/Epac-Mediated Endothelial Barrier Stabilisation.", "journal": "Frontiers in physiology", "date": "2019", "authors": "G\u00fcnd\u00fcz Dursun, Troidl Christian, Tanislav Christian, Rohrbach Susanne, Hamm Christian, Aslam Muhammad", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31787905", "url": "https://glygen.org/publication/PubMed/31787905" } ] }, { "title": "Ginkgo biloba extract increases neurite outgrowth and activates the Akt/mTOR pathway.", "journal": "PloS one", "date": "2019", "authors": "Lejri Imane, Grimm Amandine, Eckert Anne", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31790465", "url": "https://glygen.org/publication/PubMed/31790465" } ] }, { "title": "Oxidative Stress-Induced Pentraxin 3 Expression Human Retinal Pigment Epithelial Cells is Involved in the Pathogenesis of Age-Related Macular Degeneration.", "journal": "International journal of molecular sciences", "date": "2019-11-29", "authors": "Hwang Narae, Kwon Min-Young, Woo Je Moon, Chung Su Wol", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31795454", "url": "https://glygen.org/publication/PubMed/31795454" } ] }, { "title": "Uev1A promotes breast cancer cell survival and chemoresistance through the AKT-FOXO1-BIM pathway.", "journal": "Cancer cell international", "date": "2019", "authors": "Wu Zhaojia, Niu Tong, Xiao Wei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31827405", "url": "https://glygen.org/publication/PubMed/31827405" } ] }, { "title": "Rho-associated kinase and zipper-interacting protein kinase, but not myosin light chain kinase, are involved in the regulation of myosin phosphorylation in serum-stimulated human arterial smooth muscle cells.", "journal": "PloS one", "date": "2019", "authors": "Deng Jing-Ti, Bhaidani Sabreena, Sutherland Cindy, MacDonald Justin A, Walsh Michael P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31834925", "url": "https://glygen.org/publication/PubMed/31834925" } ] }, { "title": "Glucose Depletion Enhances the Stem Cell Phenotype and Gemcitabine Resistance of Cholangiocarcinoma Organoids through AKT Phosphorylation and Reactive Oxygen Species.", "journal": "Cancers", "date": "2019-12-11", "authors": "Yoshikawa Nao, Saito Yoshimasa, Manabe Hiroki, Nakaoka Toshiaki, Uchida Ryoei, Furukawa Ryo, Muramatsu Toshihide, Sugiyama Yuko, Kimura Masaki, Saito Hidetsugu", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31835877", "url": "https://glygen.org/publication/PubMed/31835877" } ] }, { "title": "IL-17+ CD8+ T cell suppression by dimethyl fumarate associates with clinical response in multiple sclerosis.", "journal": "Nature communications", "date": "2019-12-16", "authors": "L\u00fcckel Christina, Picard Felix, Raifer Hartmann, Campos Carrascosa Lucia, Guralnik Anna, Zhang Yajuan, Klein Matthias, Bittner Stefan, Steffen Falk, Moos Sonja, Marini Federico, Gloury Renee, Kurschus Florian C, Chao Ying-Yin, Bertrams Wilhelm, Sexl Veronika, Schmeck Bernd, Bonetti Lynn, Grusdat Melanie, Lohoff Michael, Zielinski Christina E, Zipp Frauke, Kallies Axel, Brenner Dirk, Berger Michael, Bopp Tobias, Tackenberg Bj\u00f6rn, Huber Magdalena", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31844089", "url": "https://glygen.org/publication/PubMed/31844089" } ] }, { "title": "Up-regulation of IGF2BP2 by multiple mechanisms in pancreatic cancer promotes cancer proliferation by activating the PI3K/Akt signaling pathway.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2019", "authors": "Xu X, Yu Y, Zong K, Lv P, Gu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31852504", "url": "https://glygen.org/publication/PubMed/31852504" } ] }, { "title": "SKP2 attenuates autophagy through Beclin1-ubiquitination and its inhibition reduces MERS-Coronavirus infection.", "journal": "Nature communications", "date": "2019", "authors": "Gassen NC, Niemeyer D, Muth D, Corman VM, Martinelli S, Gassen A, Hafner K, Papies J, Mosbauer K, Zellner A, Zannas AS, Herrmann A, Holsboer F, Brack-Werner R, Boshart M, Muller-Myhsok B, Drosten C, Muller MA, Rein T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31852899", "url": "https://glygen.org/publication/PubMed/31852899" } ] }, { "title": "An ultrasensitive fiveplex activity assay for cellular kinases.", "journal": "Scientific reports", "date": "2019-12-19", "authors": "Smolko Christian M, Janes Kevin A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31857650", "url": "https://glygen.org/publication/PubMed/31857650" } ] }, { "title": "Gigantol Targets Cancer Stem Cells and Destabilizes Tumors via the Suppression of the PI3K/AKT and JAK/STAT Pathways in Ectopic Lung Cancer Xenografts.", "journal": "Cancers", "date": "2019-12-17", "authors": "Losuwannarak Nattanan, Maiuthed Arnatchai, Kitkumthorn Nakarin, Leelahavanichkul Asada, Roytrakul Sittiruk, Chanvorachote Pithi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31861050", "url": "https://glygen.org/publication/PubMed/31861050" } ] }, { "title": "The BET inhibitor GS-5829 targets chronic lymphocytic leukemia cells and their supportive microenvironment.", "journal": "Leukemia", "date": "2020-06", "authors": "Kim Ekaterina, Ten Hacken Elisa, Sivina Mariela, Clarke Astrid, Thompson Philip A, Jain Nitin, Ferrajoli Alessandra, Estrov Zeev, Keating Michael J, Wierda William G, Bhalla Kapil N, Burger Jan A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31862959", "url": "https://glygen.org/publication/PubMed/31862959" } ] }, { "title": "Metformin Inhibit Cervical Cancer Migration by Suppressing the FAK/Akt Signaling Pathway.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2019-12-01", "authors": "Hakimee Henna, Hutamekalin Pilaiwanwadee, Tanasawet Supita, Chonpathompikunlert Pennapa, Tipmanee Varomyalin, Sukketsiri Wanida", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31870092", "url": "https://glygen.org/publication/PubMed/31870092" } ] }, { "title": "NOX2-Dependent Reactive Oxygen Species Regulate Formyl-Peptide Receptor 1-Mediated TrkA Transactivation in SH-SY5Y Cells.", "journal": "Oxidative medicine and cellular longevity", "date": "2019", "authors": "Castaldo Martina, Zollo Cristiana, Esposito Gabriella, Ammendola Rosario, Cattaneo Fabio", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31871542", "url": "https://glygen.org/publication/PubMed/31871542" } ] }, { "title": "Bag-1 stimulates Bad phosphorylation through activation of Akt and Raf kinases to mediate cell survival in breast cancer.", "journal": "BMC cancer", "date": "2019", "authors": "Kizilboga T, Baskale EA, Yildiz J, Akcay IM, Zemheri E, Can ND, Ozden C, Demir S, Ezberci F, Dinler-Doganay G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31883527", "url": "https://glygen.org/publication/PubMed/31883527" } ] }, { "title": "Inhibition of the leucine-rich repeat protein lingo-1 enhances RGC survival in optic nerve injury.", "journal": "Experimental and therapeutic medicine", "date": "2020-01", "authors": "Quan Yadan, Wu Yali, Zhan Zongyi, Yang Yangfan, Chen Xiaotao, Wu Kaili, Yu Minbin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31885701", "url": "https://glygen.org/publication/PubMed/31885701" } ] }, { "title": "Casticin inhibits nasopharyngeal carcinoma growth by targeting phosphoinositide 3-kinase.", "journal": "Cancer cell international", "date": "2019", "authors": "Liu Jingxian, Yang Jinghong, Hou Yuhe, Zhu Zhenwei, He Jie, Zhao Hao, Ye Xidong, Li Dengke, Wu Zhaohui, Huang Zhongxi, Hao Bingtao, Yao Kaitai", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31889900", "url": "https://glygen.org/publication/PubMed/31889900" } ] }, { "title": "Integrative genomics reveal a role for MCPIP1 in adipogenesis and adipocyte metabolism.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2020", "authors": "Losko M, Dolicka D, Pydyn N, Jankowska U, Kedracka-Krok S, Kulecka M, Paziewska A, Mikula M, Major P, Winiarski M, Budzynski A, Jura J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31893310", "url": "https://glygen.org/publication/PubMed/31893310" } ] }, { "title": "Integrin-Linked Kinase Is Involved In the Proliferation and Invasion of Esophageal Squamous Cell Carcinoma.", "journal": "Journal of Cancer", "date": "2020", "authors": "Ning Z, Zhu X, Jiang Y, Gao A, Zou S, Gu C, He C, Chen Y, Ding WQ, Zhou J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31897228", "url": "https://glygen.org/publication/PubMed/31897228" } ] }, { "title": "A Ras-LSD1 axis activates PI3K signaling through PIK3IP1 suppression.", "journal": "Oncogenesis", "date": "2020-01-02", "authors": "Lee Kyunghee, Kitagawa Mayumi, Liao Pei Ju, Virshup David M, Lee Sang Hyun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31900384", "url": "https://glygen.org/publication/PubMed/31900384" } ] }, { "title": "Effects of CK2beta subunit down-regulation on Akt signalling in HK-2 renal cells.", "journal": "PloS one", "date": "2020", "authors": "Alcaraz E, Vilardell J, Borgo C, Sarro E, Plana M, Marin O, Pinna LA, Bayascas JR, Meseguer A, Salvi M, Itarte E, Ruzzene M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31910234", "url": "https://glygen.org/publication/PubMed/31910234" } ] }, { "title": "Oleic Acid Protects against Hepatic Ischemia and Reperfusion Injury in Mice by Inhibiting AKT/mTOR Pathways.", "journal": "Oxidative medicine and cellular longevity", "date": "2019", "authors": "Guo Jianrong, Zhang Tao, Gu Jian, Cai Kailin, Deng Xiuling, Chen Ke, Huang Kun, Wang Guobin, Li Huili, Wang Jiliang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31915509", "url": "https://glygen.org/publication/PubMed/31915509" } ] }, { "title": "GSK3\u03b2 is a key regulator of the ROS-dependent necrotic death induced by the quinone DMNQ.", "journal": "Cell death & disease", "date": "2020-01-02", "authors": "Ciotti Sonia, Iuliano Luca, Cefal\u00f9 Sebastiano, Comelli Marina, Mavelli Irene, Di Giorgio Eros, Brancolini Claudio", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31919413", "url": "https://glygen.org/publication/PubMed/31919413" } ] }, { "title": "Role and mechanism of PTEN in Burkitt's lymphoma.", "journal": "Oncology reports", "date": "2020-02", "authors": "Li Chuntuan, Xu Yahong, Xin Pengliang, Zheng Yan, Zhu Xiongpeng", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31922234", "url": "https://glygen.org/publication/PubMed/31922234" } ] }, { "title": "KDM4B facilitates colorectal cancer growth and glucose metabolism by stimulating TRAF6-mediated AKT activation.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2020", "authors": "Li H, Lan J, Wang G, Guo K, Han C, Li X, Hu J, Cao Z, Luo X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31931846", "url": "https://glygen.org/publication/PubMed/31931846" } ] }, { "title": "SIK2 enhances synthesis of fatty acid and cholesterol in ovarian cancer cells and tumor growth through PI3K/Akt signaling pathway.", "journal": "Cell death & disease", "date": "2020-01-13", "authors": "Zhao Jing, Zhang Xiaohong, Gao Tian, Wang Shanci, Hou Yiran, Yuan Peng, Yang Yi, Yang Tao, Xing Jinliang, Li Jibin, Liu Shujuan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31932581", "url": "https://glygen.org/publication/PubMed/31932581" } ] }, { "title": "Jejunal Insulin Signalling Is Increased in Morbidly Obese Subjects with High Insulin Resistance and Is Regulated by Insulin and Leptin.", "journal": "Journal of clinical medicine", "date": "2020-01-10", "authors": "Gutierrez-Repiso Carolina, Ho-Plagaro Ailec, Santiago-Fernandez Concepci\u00f3n, Garcia-Serrano Sara, Rodr\u00edguez-Pacheco Francisca, Valdes Sergio, Garrido-Sanchez Lourdes, Rodr\u00edguez-D\u00edaz Cristina, L\u00f3pez-G\u00f3mez Carlos, Moreno-Ruiz Francisco J, Alcain-Martinez Guillermo, Gautier-Stein Amandine, Mithieux Gilles, Garcia-Fuentes Eduardo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31936857", "url": "https://glygen.org/publication/PubMed/31936857" } ] }, { "title": "Licochalcone A Inhibits BDNF and TrkB Gene Expression and Hypoxic Growth of Human Tumor Cell Lines.", "journal": "International journal of molecular sciences", "date": "2020", "authors": "Arita M, Koike J, Yoshikawa N, Kondo M, Hemmi H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31941116", "url": "https://glygen.org/publication/PubMed/31941116" } ] }, { "title": "SPAG5-AS1 inhibited autophagy and aggravated apoptosis of podocytes via SPAG5/AKT/mTOR pathway.", "journal": "Cell proliferation", "date": "2020", "authors": "Xu J, Deng Y, Wang Y, Sun X, Chen S, Fu G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31957155", "url": "https://glygen.org/publication/PubMed/31957155" } ] }, { "title": "FGFRL1 affects chemoresistance of small-cell lung cancer by modulating the PI3K/Akt pathway via ENO1.", "journal": "Journal of cellular and molecular medicine", "date": "2020-02", "authors": "Chen Rui, Li Deyu, Zheng Meng, Chen Bin, Wei Ting, Wang Yu, Li Man, Huang Weimei, Tong Qin, Wang Qi, Zhu Yaru, Fang Wei, Guo Linlang, Fang Shun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31957179", "url": "https://glygen.org/publication/PubMed/31957179" } ] }, { "title": "Antitumor activity of celastrol by inhibition of proliferation, invasion, and migration in cholangiocarcinoma via PTEN/PI3K/Akt pathway.", "journal": "Cancer medicine", "date": "2020-01", "authors": "Zhu Biqiang, Wei Yunwei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31957323", "url": "https://glygen.org/publication/PubMed/31957323" } ] }, { "title": "Lipoic acid decreases breast cancer cell proliferation by inhibiting IGF-1R via furin downregulation.", "journal": "British journal of cancer", "date": "2020-03", "authors": "Farhat Diana, L\u00e9on Sophie, Ghayad Sandra E, Gadot Nicolas, Icard Philippe, Le Romancer Muriel, Hussein Nader, Lincet Hubert", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31988347", "url": "https://glygen.org/publication/PubMed/31988347" } ] }, { "title": "SYK is activated by mutated MYD88 and drives pro-survival signaling in MYD88 driven B-cell lymphomas.", "journal": "Blood cancer journal", "date": "2020", "authors": "Munshi M, Liu X, Chen JG, Xu L, Tsakmaklis N, Demos MG, Kofides A, Guerrera ML, Jimenez C, Chan GG, Hunter ZR, Palomba ML, Argyropoulos KV, Meid K, Keezer A, Gustine J, Dubeau T, Castillo JJ, Patterson CJ, Wang J, Buhrlage SJ, Gray NS, Treon SP, Yang G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32005797", "url": "https://glygen.org/publication/PubMed/32005797" } ] }, { "title": "Novel Sulfonanilide Inhibitors of SHIP2 Enhance Glucose Uptake into Cultured Myotubes.", "journal": "ACS omega", "date": "2020-01-28", "authors": "Berg Mika E A, Naams Jette-Britt, Hautala Laura C, Tolvanen Tuomas A, Ahonen Jari P, Lehtonen Sanna, W\u00e4h\u00e4l\u00e4 Kristiina", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32010815", "url": "https://glygen.org/publication/PubMed/32010815" } ] }, { "title": "Rosemary Extract Inhibits Proliferation, Survival, Akt, and mTOR Signaling in Triple-Negative Breast Cancer Cells.", "journal": "International journal of molecular sciences", "date": "2020-01-27", "authors": "Jaglanian Alina, Tsiani Evangelia", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32012648", "url": "https://glygen.org/publication/PubMed/32012648" } ] }, { "title": "Allylated Curcumin Analog CA6 Inhibits TrxR1 and Leads to ROS-Dependent Apoptotic Cell Death in Gastric Cancer Through Akt-FoxO3a.", "journal": "Cancer management and research", "date": "2020", "authors": "Rajamanickam Vinothkumar, Yan Tao, Wu Liangrong, Zhao Yanni, Xu Xiaohong, Zhu Heping, Chen Xi, Wang Meihong, Liu Zhoudi, Liu Zhiguo, Liang Guang, Wang Yi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32021440", "url": "https://glygen.org/publication/PubMed/32021440" } ] }, { "title": "Phosphorylation-Dependent Differences in CXCR4-LASP1-AKT1 Interaction between Breast Cancer and Chronic Myeloid Leukemia.", "journal": "Cells", "date": "2020-02-14", "authors": "Butt Elke, Stempfle Katrin, Lister Lorenz, Wolf Felix, Kraft Marcella, Herrmann Andreas B, Viciano Cristina Perpina, Weber Christian, Hochhaus Andreas, Ernst Thomas, Hoffmann Carsten, Zernecke Alma, Frietsch Jochen J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32075106", "url": "https://glygen.org/publication/PubMed/32075106" } ] }, { "title": "Deguelin suppresses non-small cell lung cancer by inhibiting EGFR signaling and promoting GSK3\u03b2/FBW7-mediated Mcl-1 destabilization.", "journal": "Cell death & disease", "date": "2020-02-21", "authors": "Gao Feng, Yu Xinfang, Li Ming, Zhou Li, Liu Wenbin, Li Wei, Liu Haidan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32081857", "url": "https://glygen.org/publication/PubMed/32081857" } ] }, { "title": "MiR-214 Mediates Cell Proliferation and Apoptosis of Nasopharyngeal Carcinoma Through Targeting Both WWOX and PTEN.", "journal": "Cancer biotherapy & radiopharmaceuticals", "date": "2020-10", "authors": "Han Ji-Bo, Huang Mao-Ling, Li Fen, Yang Rui, Chen Shi-Ming, Tao Ze-Zhang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32101017", "url": "https://glygen.org/publication/PubMed/32101017" } ] }, { "title": "rTMS Regulates the Balance Between Proliferation and Apoptosis of Spinal Cord Derived Neural Stem/Progenitor Cells.", "journal": "Frontiers in cellular neuroscience", "date": "2019", "authors": "Zhao Chen-Guang, Qin Jie, Sun Wei, Ju Fen, Zhao Yong-Lin, Wang Rui, Sun Xiao-Long, Mou Xiang, Yuan Hua", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32116552", "url": "https://glygen.org/publication/PubMed/32116552" } ] }, { "title": "Penicilazaphilone C, a New Azaphilone, Induces Apoptosis in Gastric Cancer by Blocking the Notch Signaling Pathway.", "journal": "Frontiers in oncology", "date": "2020", "authors": "Wang Ming, Zhao Huange, Hu Juanjuan, Xu Zhen, Lin Yingying, Zhou Songlin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32117763", "url": "https://glygen.org/publication/PubMed/32117763" } ] }, { "title": "Repurposing antimycotic ciclopirox olamine as a promising anti-ischemic stroke agent.", "journal": "Acta pharmaceutica Sinica. B", "date": "2020-03", "authors": "Feng Hongxuan, Hu Linghao, Zhu Hongwen, Tao Lingxue, Wu Lei, Zhao Qinyuan, Gao Yemi, Gong Qi, Mao Fei, Li Xiaokang, Zhou Hu, Li Jian, Zhang Haiyan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32140390", "url": "https://glygen.org/publication/PubMed/32140390" } ] }, { "title": "TNFAIP8 regulates autophagy, cell steatosis, and promotes hepatocellular carcinoma cell proliferation.", "journal": "Cell death & disease", "date": "2020-03-09", "authors": "Niture Suryakant, Gyamfi Maxwell A, Lin Minghui, Chimeh Uchechukwu, Dong Xialan, Zheng Weifan, Moore John, Kumar Deepak", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32152268", "url": "https://glygen.org/publication/PubMed/32152268" } ] }, { "title": "Lactic acidosis induces resistance to the pan-Akt inhibitor uprosertib in colon cancer cells.", "journal": "British journal of cancer", "date": "2020-04", "authors": "Barnes Emily M E, Xu Yitao, Benito Adrian, Herendi Lili, Siskos Alexandros P, Aboagye Eric O, Nijhuis Anke, Keun Hector C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32152504", "url": "https://glygen.org/publication/PubMed/32152504" } ] }, { "title": "Regulation of Autophagy in Chick Skeletal Muscle: Effect of mTOR Inhibition.", "journal": "The journal of poultry science", "date": "2020-01-25", "authors": "Nakashima Kazuki, Ishida Aiko", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32174768", "url": "https://glygen.org/publication/PubMed/32174768" } ] }, { "title": "Biallelic loss of FAM46C triggers tumor growth with concomitant activation of Akt signaling in multiple myeloma cells.", "journal": "Cancer science", "date": "2020", "authors": "Kanasugi J, Hanamura I, Ota A, Karnan S, Lam VQ, Mizuno S, Wahiduzzaman M, Rahman ML, Hyodo T, Konishi H, Tsuzuki S, Hosokawa Y, Takami A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32176823", "url": "https://glygen.org/publication/PubMed/32176823" } ] }, { "title": "MARCKSL1 promotes the proliferation, migration and invasion of lung adenocarcinoma cells.", "journal": "Oncology letters", "date": "2020-03", "authors": "Liang Wenjun, Gao Ruichen, Yang Mingxia, Wang Xiaohua, Cheng Kewei, Shi Xuejun, He Chen, Li Yemei, Wu Yuying, Shi Lei, Chen Jingtao, Yu Xiaowei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32194726", "url": "https://glygen.org/publication/PubMed/32194726" } ] }, { "title": "Ribosomal Protein S6 Hypofunction in Postmortem Human Brain Links mTORC1-Dependent Signaling and Schizophrenia.", "journal": "Frontiers in pharmacology", "date": "2020", "authors": "Ibarra-Lecue In\u00e9s, Diez-Alarcia Rebeca, Morentin Benito, Meana J Javier, Callado Luis F, Urig\u00fcen Leyre", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32265715", "url": "https://glygen.org/publication/PubMed/32265715" } ] }, { "title": "NO up-regulates migraine-related CGRP via activation of an Akt/GSK-3\u03b2/NF-\u03baB signaling cascade in trigeminal ganglion neurons.", "journal": "Aging", "date": "2020-04-10", "authors": "Yao Gang, Man Yu-Hong, Li An-Ran, Guo Yu, Dai Yun, Wang Ping, Zhou Yi-Fa", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32276265", "url": "https://glygen.org/publication/PubMed/32276265" } ] }, { "title": "MOB2 suppresses GBM cell migration and invasion via regulation of FAK/Akt and cAMP/PKA signaling.", "journal": "Cell death & disease", "date": "2020", "authors": "Jiang K, Yao G, Hu L, Yan Y, Liu J, Shi J, Chang Y, Zhang Y, Liang D, Shen D, Zhang G, Meng S, Piao H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32286266", "url": "https://glygen.org/publication/PubMed/32286266" } ] }, { "title": "Topical Ascorbic Acid Ameliorates Oxidative Stress-Induced Corneal Endothelial Damage via Suppression of Apoptosis and Autophagic Flux Blockage.", "journal": "Cells", "date": "2020-04-11", "authors": "Hsueh Yi-Jen, Meir Yaa-Jyuhn James, Yeh Lung-Kun, Wang Tze-Kai, Huang Chieh-Cheng, Lu Tsai-Te, Cheng Chao-Min, Wu Wei-Chi, Chen Hung-Chi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32290365", "url": "https://glygen.org/publication/PubMed/32290365" } ] }, { "title": "Human vtRNA1-1 Levels Modulate Signaling Pathways and Regulate Apoptosis in Human Cancer Cells.", "journal": "Biomolecules", "date": "2020-04-16", "authors": "Bracher Lisamaria, Ferro Iolanda, Pulido-Quetglas Carlos, Ruepp Marc-David, Johnson Rory, Polacek Norbert", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32316166", "url": "https://glygen.org/publication/PubMed/32316166" } ] }, { "title": "Low shear stress induces endothelial cell apoptosis and monocyte adhesion by upregulating PECAM\u20111 expression.", "journal": "Molecular medicine reports", "date": "2020-06", "authors": "Xie Xiangrong, Wang Feng, Zhu Linlin, Yang Hongfeng, Pan Daorong, Liu Yan, Qu Xinliang, Gu Yue, Li Xiaobo, Chen Shaoliang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32323830", "url": "https://glygen.org/publication/PubMed/32323830" } ] }, { "title": "Extracellular Matrix Derived from High Metastatic Human Breast Cancer Triggers Epithelial-Mesenchymal Transition in Epithelial Breast Cancer Cells through \u03b1v\u03b23 Integrin.", "journal": "International journal of molecular sciences", "date": "2020-04-23", "authors": "M Brand\u00e3o-Costa Renata, Helal-Neto Edward, M Vieira Andreza, Barcellos-de-Souza Pedro, Morgado-Diaz Jose, Barja-Fidalgo Christina", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32340328", "url": "https://glygen.org/publication/PubMed/32340328" } ] }, { "title": "Loss of tumor suppressor inositol polyphosphate 4-phosphatase type B impairs DNA double-strand break repair by destabilization of DNA tethering protein Rad50.", "journal": "Cell death & disease", "date": "2020-04-27", "authors": "Sun Yue, Ning Xuelian, Fan Jiankun, Hu Jiandong, Jiang Yanting, Hu Ziqi, Paulo Joao A, Liu Jichao, Qiu Xiaohong, Xu Hui, Fu Songbin, Gygi Steven P, Zhang Jinwei, Zhou Chunshui", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32341333", "url": "https://glygen.org/publication/PubMed/32341333" } ] }, { "title": "Small molecule H89 renders the phosphorylation of S6K1 and AKT resistant to mTOR inhibitors.", "journal": "The Biochemical journal", "date": "2020-05-29", "authors": "Melick Chase H, Jewell Jenna L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32347294", "url": "https://glygen.org/publication/PubMed/32347294" } ] }, { "title": "Pristimerin-induced uveal melanoma cell death via inhibiting PI3K/Akt/FoxO3a signalling pathway.", "journal": "Journal of cellular and molecular medicine", "date": "2020-06", "authors": "Yan Fengxia, Liao Rifang, Silva Marta, Li Shuai, Jiang Yizhou, Peng Tangming, Lazarovici Philip, Zheng Wenhua", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32347651", "url": "https://glygen.org/publication/PubMed/32347651" } ] }, { "title": "Constitutively active PIK3CA mutations are expressed by lymphatic and vascular endothelial cells in capillary lymphatic venous malformation.", "journal": "Angiogenesis", "date": "2020-08", "authors": "Le Cras Timothy D, Goines Jillian, Lakes Nora, Pastura Patricia, Hammill Adrienne M, Adams Denise M, Boscolo Elisa", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32350708", "url": "https://glygen.org/publication/PubMed/32350708" } ] }, { "title": "FOXK1 Promotes Proliferation and Metastasis of Gallbladder Cancer by Activating AKT/mTOR Signaling Pathway.", "journal": "Frontiers in oncology", "date": "2020", "authors": "Wencong Ma, Jinghan Wang, Yong Yu, Jianyang Ao, Bin Li, Qingbao Cheng, Chen Liu, Xiaoqing Jiang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32363163", "url": "https://glygen.org/publication/PubMed/32363163" } ] }, { "title": "Interleukin-6 Treatment Results in GLUT4 Translocation and AMPK Phosphorylation in Neuronal SH-SY5Y Cells.", "journal": "Cells", "date": "2020-04-30", "authors": "Marko Daniel M, Foran Gregory, Vlavcheski Filip, Baron David C, Hayward Grant C, Baranowski Bradley J, Necakov Aleksander, Tsiani Evangelia, MacPherson Rebecca E K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32365859", "url": "https://glygen.org/publication/PubMed/32365859" } ] }, { "title": "The novel miR-1269b-regulated protein SVEP1 induces hepatocellular carcinoma proliferation and metastasis likely through the PI3K/Akt pathway.", "journal": "Cell death & disease", "date": "2020", "authors": "Chen L, Liu D, Yi X, Qi L, Tian X, Sun B, Dong Q, Han Z, Li Q, Song T, Guo M, Zhang W, Guo H, Zhang T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32371982", "url": "https://glygen.org/publication/PubMed/32371982" } ] }, { "title": "Expression and function of voltage gated proton channels (Hv1) in MDA-MB-231 cells.", "journal": "PloS one", "date": "2020", "authors": "Bare DJ, Cherny VV, DeCoursey TE, Abukhdeir AM, Morgan D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32374759", "url": "https://glygen.org/publication/PubMed/32374759" } ] }, { "title": "Dysregulation of FOXO1 (Forkhead Box O1 Protein) Drives Calcification in Arterial Calcification due to Deficiency of CD73 and Is Present in Peripheral Artery Disease.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2020", "authors": "Moorhead WJ 3rd, Chu CC, Cuevas RA, Callahan J 4th, Wong R, Regan C, Boufford CK, Sur S, Liu M, Gomez D, MacTaggart JN, Kamenskiy A, Boehm M, St Hilaire C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32375544", "url": "https://glygen.org/publication/PubMed/32375544" } ] }, { "title": "Circular RNA circBFAR promotes the progression of pancreatic ductal adenocarcinoma via the miR-34b-5p/MET/Akt axis.", "journal": "Molecular cancer", "date": "2020-05-06", "authors": "Guo Xiaofeng, Zhou Quanbo, Su Dan, Luo Yuming, Fu Zhiqiang, Huang Leyi, Li Zhiguo, Jiang Decan, Kong Yao, Li Zhihua, Chen Rufu, Chen Changhao", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32375768", "url": "https://glygen.org/publication/PubMed/32375768" } ] }, { "title": "p85beta regulates autophagic degradation of AXL to activate oncogenic signaling.", "journal": "Nature communications", "date": "2020", "authors": "Rao L, Mak VCY, Zhou Y, Zhang D, Li X, Fung CCY, Sharma R, Gu C, Lu Y, Tipoe GL, Cheung ANY, Mills GB, Cheung LWT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32385243", "url": "https://glygen.org/publication/PubMed/32385243" } ] }, { "title": "Histone Acetyltransferase (HAT) P300/CBP Inhibitors Induce Synthetic Lethality in PTEN-Deficient Colorectal Cancer Cells through Destabilizing AKT.", "journal": "International journal of biological sciences", "date": "2020", "authors": "Liu Yifan, Yang Eun Ju, Shi Changxiang, Mou Pui Kei, Zhang Baoyuan, Wu Changjie, Lyu Junfang, Shim Joong Sup", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32398948", "url": "https://glygen.org/publication/PubMed/32398948" } ] }, { "title": "Promotion of ubiquitination-dependent survivin destruction contributes to xanthohumol-mediated tumor suppression and overcomes radioresistance in human oral squamous cell carcinoma.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2020-05-14", "authors": "Li Ming, Gao Feng, Yu Xinfang, Zhao Qing, Zhou Li, Liu Wenbin, Li Wei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32410646", "url": "https://glygen.org/publication/PubMed/32410646" } ] }, { "title": "Upregulation of pERK and c-JUN by \u03b3-tocotrienol and not \u03b1-tocopherol are essential to the differential effect on apoptosis in prostate cancer cells.", "journal": "BMC cancer", "date": "2020-05-15", "authors": "Moore Christine, Palau Victoria E, Mahboob Rashid, Lightner Janet, Stone William, Krishnan Koyamangalath", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32414345", "url": "https://glygen.org/publication/PubMed/32414345" } ] }, { "title": "PI3K-Akt-mTOR inhibition by GNE-477 inhibits renal cell carcinoma cell growth in vitro and in vivo.", "journal": "Aging", "date": "2020-05-18", "authors": "Ye Xueting, Ruan Jian-Wei, Huang Hang, Huang Wei-Ping, Zhang Yan, Zhang Fangyi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32421688", "url": "https://glygen.org/publication/PubMed/32421688" } ] }, { "title": "VEGF Production Is Regulated by the AKT/ERK1/2 Signaling Pathway and Controls the Proliferation of Toxoplasma gondii in ARPE-19 Cells.", "journal": "Frontiers in cellular and infection microbiology", "date": "2020", "authors": "Quan Juan-Hua, Ismail Hassan Ahmed Hassan Ahmed, Cha Guang-Ho, Jo Young-Joon, Gao Fei Fei, Choi In-Wook, Chu Jia-Qi, Yuk Jae-Min, Lee Young-Ha", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32432052", "url": "https://glygen.org/publication/PubMed/32432052" } ] }, { "title": "THP-1 macrophage cholesterol efflux is impaired by palmitoleate through Akt activation.", "journal": "PloS one", "date": "2020", "authors": "Marshall Jenika D, Courage Emily R, Elliott Ryan F, Fitzpatrick Madeline N, Kim Anne D, Lopez-Clavijo Andrea F, Woolfrey Bronwyn A, Ouimet Mireille, Wakelam Michael J O, Brown Robert J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32437392", "url": "https://glygen.org/publication/PubMed/32437392" } ] }, { "title": "A systematic molecular and pharmacologic evaluation of AKT inhibitors reveals new insight into their biological activity.", "journal": "British journal of cancer", "date": "2020-08", "authors": "Kostaras Eleftherios, Kaserer Teresa, Lazaro Glorianne, Heuss Sara Farrah, Hussain Aasia, Casado Pedro, Hayes Angela, Yandim Cihangir, Palaskas Nicolaos, Yu Yi, Schwartz Brian, Raynaud Florence, Chung Yuen-Li, Cutillas Pedro R, Vivanco Igor", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32439931", "url": "https://glygen.org/publication/PubMed/32439931" } ] }, { "title": "Targeting eIF3f Suppresses the Growth of Prostate Cancer Cells by Inhibiting Akt Signaling.", "journal": "OncoTargets and therapy", "date": "2020", "authors": "Li Junhong, Yu Wandong, Ge Jianchao, Zhang Jun, Wang Yang, Wang Pengyu, Shi Guowei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32440143", "url": "https://glygen.org/publication/PubMed/32440143" } ] }, { "title": "Hypoxia promotes Chlamydia trachomatis L2/434/Bu growth in immortal human epithelial cells via activation of the PI3K-AKT pathway and maintenance of a balanced NAD+/NADH ratio.", "journal": "Microbes and infection", "date": "2020-10", "authors": "Thapa Jeewan, Hashimoto Kent, Sugawara Saori, Tsujikawa Ryoya, Okubo Torahiko, Nakamura Shinji, Yamaguchi Hiroyuki", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32442683", "url": "https://glygen.org/publication/PubMed/32442683" } ] }, { "title": "CFTR promotes malignant glioma development via up-regulation of Akt/Bcl2-mediated anti-apoptosis pathway.", "journal": "Journal of cellular and molecular medicine", "date": "2020-07", "authors": "Zhao Mingyue, Zhang Jieting, Huang Wenqing, Dong Jianda, Guo Jinghui, U Kin Pong, Weng ZhiHui, Liu Si, Chan Hsiao Chang, Feng Hua, Jiang Xiaohua", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32463592", "url": "https://glygen.org/publication/PubMed/32463592" } ] }, { "title": "The Synergistic Anti-Cancer Effects of NVP-BEZ235 and Regorafenib in Hepatocellular Carcinoma.", "journal": "Molecules (Basel, Switzerland)", "date": "2020-05-25", "authors": "Yu Cheng-Chan, Huang Sung-Ying, Chang Shu-Fang, Liao Kuan-Fu, Chiu Sheng-Chun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32466169", "url": "https://glygen.org/publication/PubMed/32466169" } ] }, { "title": "Clinical-Grade Peptide-Based Inhibition of CK2 Blocks Viability and Proliferation of T-ALL Cells and Counteracts IL-7 Stimulation and Stromal Support.", "journal": "Cancers", "date": "2020-05-27", "authors": "Perera Yasser, Mel\u00e3o Alice, Ram\u00f3n Ailyn C, V\u00e1zquez Dania, Ribeiro Daniel, Perea Silvio E, Barata Jo\u00e3o T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32471246", "url": "https://glygen.org/publication/PubMed/32471246" } ] }, { "title": "PLAC1 is essential for FGF7/FGFRIIIb-induced Akt-mediated cancer cell proliferation.", "journal": "Oncotarget", "date": "2020-05-19", "authors": "Rold\u00e1n Diana Barea, Grimmler Matthias, Hartmann Christoph, Hubich-Rau Stefanie, Bei\u00dfert Tim, Paret Claudia, Cagna Giuseppe, Rohde Christoph, W\u00f6ll Stefan, Koslowski Michael, T\u00fcreci \u00d6zlem, Sahin Ugur", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32499871", "url": "https://glygen.org/publication/PubMed/32499871" } ] }, { "title": "Human herpesvirus 6A promotes glycolysis in infected T cells by activation of mTOR signaling.", "journal": "PLoS pathogens", "date": "2020-06", "authors": "Wu Zhisheng, Jia Junli, Xu Xianyi, Xu Mengyuan, Peng Guangyong, Ma Jingjing, Jiang Xuefeng, Yao Jialin, Yao Kun, Li Lingyun, Tang Huamin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32516328", "url": "https://glygen.org/publication/PubMed/32516328" } ] }, { "title": "Combined inhibition of ACK1 and AKT shows potential toward targeted therapy against KRAS-mutant non-small-cell lung cancer.", "journal": "Bosnian journal of basic medical sciences", "date": "2021-04-01", "authors": "Yu Xiangjing, Liu Jie, Qiu Huawei, Hao Huiting, Zhu Jinhong, Peng Shiyun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32530390", "url": "https://glygen.org/publication/PubMed/32530390" } ] }, { "title": "Dual Role of WISP1 in maintaining glioma stem cells and tumor-supportive macrophages in glioblastoma.", "journal": "Nature communications", "date": "2020", "authors": "Tao W, Chu C, Zhou W, Huang Z, Zhai K, Fang X, Huang Q, Zhang A, Wang X, Yu X, Huang H, Wu Q, Sloan AE, Yu JS, Li X, Stark GR, Rich JN, Bao S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32541784", "url": "https://glygen.org/publication/PubMed/32541784" } ] }, { "title": "Knockdown of FAM83D Enhances Radiosensitivity in Coordination with Irradiation by Inhibiting EMT via the Akt/GSK-3\u03b2/Snail Signaling Pathway in Human Esophageal Cancer Cells.", "journal": "OncoTargets and therapy", "date": "2020", "authors": "Yang Xing-Xiao, Ma Ming, Sang Mei-Xiang, Zhang Xue-Yuan, Zou Nai-Yi, Zhu Shu-Chai", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32547096", "url": "https://glygen.org/publication/PubMed/32547096" } ] }, { "title": "Insulin and Exendin-4 Reduced Mutated Huntingtin Accumulation in Neuronal Cells.", "journal": "Frontiers in pharmacology", "date": "2020", "authors": "Rea Silvia, Della-Morte David, Pacifici Francesca, Capuani Barbara, Pastore Donatella, Coppola Andrea, Arriga Roberto, Andreadi Aikaterini, Donadel Giulia, Di Daniele Nicola, Bellia Alfonso, Lauro Davide", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32547392", "url": "https://glygen.org/publication/PubMed/32547392" } ] }, { "title": "TGF-\u03b21 attenuates mitochondrial bioenergetics in pulmonary arterial endothelial cells via the disruption of carnitine homeostasis.", "journal": "Redox biology", "date": "2020-09", "authors": "Sun Xutong, Lu Qing, Yegambaram Manivannan, Kumar Sanjiv, Qu Ning, Srivastava Anup, Wang Ting, Fineman Jeffrey R, Black Stephen M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32554303", "url": "https://glygen.org/publication/PubMed/32554303" } ] }, { "title": "Bone marrow adipose tissue is a unique adipose subtype with distinct roles in glucose homeostasis.", "journal": "Nature communications", "date": "2020-06-18", "authors": "Suchacki Karla J, Tavares Adriana A S, Mattiucci Domenico, Scheller Erica L, Papanastasiou Giorgos, Gray Calum, Sinton Matthew C, Ramage Lynne E, McDougald Wendy A, Lovdel Andrea, Sulston Richard J, Thomas Benjamin J, Nicholson Bonnie M, Drake Amanda J, Alcaide-Corral Carlos J, Said Diana, Poloni Antonella, Cinti Saverio, Macpherson Gavin J, Dweck Marc R, Andrews Jack P M, Williams Michelle C, Wallace Robert J, van Beek Edwin J R, MacDougald Ormond A, Morton Nicholas M, Stimson Roland H, Cawthorn William P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32555194", "url": "https://glygen.org/publication/PubMed/32555194" } ] }, { "title": "Human Cytomegalovirus Mediates Unique Monocyte-to-Macrophage Differentiation through the PI3K/SHIP1/Akt Signaling Network.", "journal": "Viruses", "date": "2020", "authors": "Cojohari O, Mahmud J, Altman AM, Peppenelli MA, Miller MJ, Chan GC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32560319", "url": "https://glygen.org/publication/PubMed/32560319" } ] }, { "title": "ZNF322A-mediated protein phosphorylation induces autophagosome formation through modulation of IRS1-AKT glucose uptake and HSP-elicited UPR in lung cancer.", "journal": "Journal of biomedical science", "date": "2020", "authors": "Cheung CHY, Hsu CL, Lin TY, Chen WT, Wang YC, Huang HC, Juan HF", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32576196", "url": "https://glygen.org/publication/PubMed/32576196" } ] }, { "title": "A new human adipocyte model with PTEN haploinsufficiency.", "journal": "Adipocyte", "date": "2020-12", "authors": "K\u00e4ssner Franziska, Kirstein Anna, H\u00e4ndel Norman, Schmid Gordian L, Landgraf Kathrin, Berthold Antje, Tannert Astrid, Schaefer Michael, Wabitsch Martin, Kiess Wieland, K\u00f6rner Antje, Garten Antje", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32579864", "url": "https://glygen.org/publication/PubMed/32579864" } ] }, { "title": "Heat shock protein 47 promotes tumor survival and therapy resistance by modulating AKT signaling via PHLPP1 in colorectal cancer.", "journal": "Cancer biology & medicine", "date": "2020-05-15", "authors": "Chern Yijye, Zhang Peter, Ju Hyelim, Tai Isabella T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32587773", "url": "https://glygen.org/publication/PubMed/32587773" } ] }, { "title": "Cotargeting CHK1 and PI3K Synergistically Suppresses Tumor Growth of Oral Cavity Squamous Cell Carcinoma in Patient-Derived Xenografts.", "journal": "Cancers", "date": "2020-06-29", "authors": "Yang Chia-Yu, Liu Chiao-Rou, Chang Ian Yi-Feng, OuYang Chun-Nan, Hsieh Chia-Hsun, Huang Yen-Lin, Wang Chun-I, Jan Fei-Wen, Wang Wan-Ling, Tsai Ting-Lin, Liu Hsuan, Tseng Ching-Ping, Chang Yu-Sun, Wu Chih-Ching, Chang Kai-Ping", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32610557", "url": "https://glygen.org/publication/PubMed/32610557" } ] }, { "title": "Tubeimoside\u20111 induces apoptosis in human glioma U251 cells by suppressing PI3K/Akt\u2011mediated signaling pathways.", "journal": "Molecular medicine reports", "date": "2020-08", "authors": "Cao Li-Juan, Xie Hai-Tang, Chu Zhong-Xia, Ma Yue, Wang Ming-Ming, Shi Zhuang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32627020", "url": "https://glygen.org/publication/PubMed/32627020" } ] }, { "title": "Klotho modulates electrical activity and calcium homeostasis in pulmonary vein cardiomyocytes via PI3K/Akt signalling.", "journal": "Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology", "date": "2020-07-01", "authors": "Hung Yuan, Chen Yao-Chang, Huang Shih-Yu, Lu Yen-Yu, Lin Yung-Kuo, Kao Yu-Hsun, Lin Wei-Shiang, Chen Shih-Ann, Chen Yi-Jen", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32627831", "url": "https://glygen.org/publication/PubMed/32627831" } ] }, { "title": "A Novel Combination Treatment with Honokiol and Rapamycin Effectively Restricts c-Met-Induced Growth of Renal Cancer Cells, and also Inhibits the Expression of Tumor Cell PD-L1 Involved in Immune Escape.", "journal": "Cancers", "date": "2020-07-03", "authors": "Sabarwal Akash, Chakraborty Samik, Mahanta Simran, Banerjee Selina, Balan Murugabaskar, Pal Soumitro", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32635337", "url": "https://glygen.org/publication/PubMed/32635337" } ] }, { "title": "Proteomic and transcriptomic profiling identifies mediators of anchorage-independent growth and roles of inhibitor of differentiation proteins in invasive lobular carcinoma.", "journal": "Scientific reports", "date": "2020-07-13", "authors": "Tasdemir Nilgun, Ding Kai, Savariau Laura, Levine Kevin M, Du Tian, Elangovan Ashuvinee, Bossart Emily A, Lee Adrian V, Davidson Nancy E, Oesterreich Steffi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32661241", "url": "https://glygen.org/publication/PubMed/32661241" } ] }, { "title": "ATM-associated signalling triggers the unfolded protein response and cell death in response to stress.", "journal": "Communications biology", "date": "2020-07-14", "authors": "Hotokezaka Yuka, Katayama Ikuo, Nakamura Takashi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32665601", "url": "https://glygen.org/publication/PubMed/32665601" } ] }, { "title": "Downregulation of cAMP-Dependent Protein Kinase Inhibitor-b Promotes Preeclampsia by Decreasing Phosphorylated Akt.", "journal": "Reproductive sciences (Thousand Oaks, Calif.)", "date": "2021", "authors": "Liu C, Wang H, Yang M, Liang Y, Jiang L, Sun S, Fan S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32676926", "url": "https://glygen.org/publication/PubMed/32676926" } ] }, { "title": "Tetrahedral framework nucleic acids promote scarless healing of cutaneous wounds via the AKT-signaling pathway.", "journal": "Signal transduction and targeted therapy", "date": "2020-07-17", "authors": "Zhu Junyao, Zhang Mei, Gao Yang, Qin Xin, Zhang Tianxu, Cui Weitong, Mao Chenchen, Xiao Dexuan, Lin Yunfeng", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32678073", "url": "https://glygen.org/publication/PubMed/32678073" } ] }, { "title": "Insulin signaling and glucose metabolism in different hepatoma cell lines deviate from hepatocyte physiology toward a convergent aberrant phenotype.", "journal": "Scientific reports", "date": "2020-07-21", "authors": "Molinaro Angela, Becattini Barbara, Solinas Giovanni", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32694512", "url": "https://glygen.org/publication/PubMed/32694512" } ] }, { "title": "Retinoic acid induces differentiation in neuroblastoma via ROR1 by modulating retinoic acid response elements.", "journal": "Oncology reports", "date": "2020-09", "authors": "Illendula Abhinav, Fultang Norman, Peethambaran Bela", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32705280", "url": "https://glygen.org/publication/PubMed/32705280" } ] }, { "title": "Is there a connection between immunohistochemical markers and grading of lung cancer with apparent diffusion coefficient (ADC) and standardised uptake values (SUV) of hybrid 18F-FDG-PET/MRI?", "journal": "Journal of medical imaging and radiation oncology", "date": "2020-12", "authors": "Martin Ole, Bruckmann Nils-Martin, Kirchner Julian, Ullrich Tim, Ingenwerth Marc, Bogner Simon, Eze Chukwuka, Nensa Felix, Herrmann Ken, Umutlu Lale, Antoch Gerald, Sawicki Lino M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32705779", "url": "https://glygen.org/publication/PubMed/32705779" } ] }, { "title": "Modulated Electro-Hyperthermia Resolves Radioresistance of Panc1 Pancreas Adenocarcinoma and Promotes DNA Damage and Apoptosis In Vitro.", "journal": "International journal of molecular sciences", "date": "2020-07-19", "authors": "Forika Gertrud, Balogh Andrea, Vancsik Tamas, Zalatnai Attila, Petovari Gabor, Benyo Zoltan, Krenacs Tibor", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32707717", "url": "https://glygen.org/publication/PubMed/32707717" } ] }, { "title": "Ganglioneuromas are driven by activated AKT and can be therapeutically targeted with mTOR inhibitors.", "journal": "The Journal of experimental medicine", "date": "2020-10-05", "authors": "Tao Ting, Shi Hui, Wang Meng, Perez-Atayde Antonio R, London Wendy B, Gutierrez Alejandro, Lemos Bernardo, Durbin Adam D, Look A Thomas", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32728700", "url": "https://glygen.org/publication/PubMed/32728700" } ] }, { "title": "Insulin Stimulation of Protein Synthesis and mTOR Signaling in Chick Myotube Cultures.", "journal": "The journal of poultry science", "date": "2020-07-25", "authors": "Nakashima Kazuki, Ishida Aiko, Shimamoto Saki, Ijiri Daichi, Ohtsuka Akira", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32733154", "url": "https://glygen.org/publication/PubMed/32733154" } ] }, { "title": "Triptolide-induced apoptosis in non-small cell lung cancer via a novel miR204-5p/Caveolin-1/Akt-mediated pathway.", "journal": "Oncotarget", "date": "2020-07-14", "authors": "Philips Brian J, Kumar Ajay, Burki Sarah, Ryan John P, Noda Kentaro, D'Cunha Jonathan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32733649", "url": "https://glygen.org/publication/PubMed/32733649" } ] }, { "title": "The structural determinants of PH domain-mediated regulation of Akt revealed by segmental labeling.", "journal": "eLife", "date": "2020-08-03", "authors": "Chu Nam, Viennet Thibault, Bae Hwan, Salguero Antonieta, Boeszoermenyi Andras, Arthanari Haribabu, Cole Philip A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32744507", "url": "https://glygen.org/publication/PubMed/32744507" } ] }, { "title": "Downregulation of RRM2 Attenuates Retroperitoneal Liposarcoma Progression via the Akt/mTOR/4EBP1 Pathway: Clinical, Biological, and Therapeutic Significance.", "journal": "OncoTargets and therapy", "date": "2020", "authors": "Zhang Sha, Yan Liang, Cui Can, Wang Zhen, Wu Jianhui, Lv Ang, Zhao Min, Dong Bin, Zhang Wenlong, Guan Xiaoya, Tian Xiuyun, Hao Chunyi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32753891", "url": "https://glygen.org/publication/PubMed/32753891" } ] }, { "title": "lncRNA PCBP1-AS1 Aggravates the Progression of Hepatocellular Carcinoma via Regulating PCBP1/PRL-3/AKT Pathway.", "journal": "Cancer management and research", "date": "2020", "authors": "Luo Tianping, Gao Yuan, Zhangyuan Guangyan, Xu Xiaoliang, Xue Cailin, Jin Lei, Zhang Wenjie, Zhu Chunfu, Sun Beicheng, Qin Xihu", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32753957", "url": "https://glygen.org/publication/PubMed/32753957" } ] }, { "title": "Overexpression of Extradomain-B Fibronectin is Associated with Invasion of Breast Cancer Cells.", "journal": "Cells", "date": "2020-08-03", "authors": "Vaidya Amita, Wang Helen, Qian Victoria, Gilmore Hannah, Lu Zheng-Rong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32756405", "url": "https://glygen.org/publication/PubMed/32756405" } ] }, { "title": "Antagonists of the serotonin receptor 5A target human breast tumor initiating cells.", "journal": "BMC cancer", "date": "2020-08-05", "authors": "Gwynne William D, Shakeel Mirza S, Girgis-Gabardo Adele, Kim Kwang H, Ford Emily, Dvorkin-Gheva Anna, Aarts Craig, Isaac Methvin, Al-Awar Rima, Hassell John A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32758183", "url": "https://glygen.org/publication/PubMed/32758183" } ] }, { "title": "ALDHHIGH Population Is Regulated by the AKT/\u03b2-Catenin Pathway in a Cervical Cancer Model.", "journal": "Frontiers in oncology", "date": "2020", "authors": "Sarabia-S\u00e1nchez Miguel \u00c1ngel, Alvarado-Ortiz Eduardo, Toledo-Guzman Mariel Esperanza, Garc\u00eda-Carranc\u00e1 Alejandro, Ortiz-S\u00e1nchez Elizabeth", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32766133", "url": "https://glygen.org/publication/PubMed/32766133" } ] }, { "title": "Brain-Specific Serine-47 Modification of Cytochrome c Regulates Cytochrome c Oxidase Activity Attenuating ROS Production and Cell Death: Implications for Ischemia/Reperfusion Injury and Akt Signaling.", "journal": "Cells", "date": "2020-08-06", "authors": "Kalpage Hasini A, Wan Junmei, Morse Paul T, Lee Icksoo, H\u00fcttemann Maik", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32781572", "url": "https://glygen.org/publication/PubMed/32781572" } ] }, { "title": "TMBIM6/BI-1 contributes to cancer progression through assembly with mTORC2 and AKT activation.", "journal": "Nature communications", "date": "2020", "authors": "Kim HK, Bhattarai KR, Junjappa RP, Ahn JH, Pagire SH, Yoo HJ, Han J, Lee D, Kim KW, Kim HR, Chae HJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32782388", "url": "https://glygen.org/publication/PubMed/32782388" } ] }, { "title": "miR-150 regulates endothelial progenitor cell differentiation via Akt and promotes thrombus resolution.", "journal": "Stem cell research & therapy", "date": "2020-08-12", "authors": "Du Xiaolong, Hu Nan, Yu Huiying, Hong Lei, Ran Feng, Huang Dian, Zhou Min, Li Chenglong, Li Xiaoqiang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32787969", "url": "https://glygen.org/publication/PubMed/32787969" } ] }, { "title": "EGFR/FOXO3a/BIM signaling pathway determines chemosensitivity of BMP4-differentiated glioma stem cells to temozolomide.", "journal": "Experimental & molecular medicine", "date": "2020-08", "authors": "Ciechomska Iwona Anna, Gielniewski Bartlomiej, Wojtas Bartosz, Kaminska Bozena, Mieczkowski Jakub", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32788653", "url": "https://glygen.org/publication/PubMed/32788653" } ] }, { "title": "Homocysteine-induced decrease in HUVEC cells' resistance to oxidative stress is mediated by Akt-dependent changes in iron metabolism.", "journal": "European journal of nutrition", "date": "2021-04", "authors": "Borkowska Andzelika, Ziolkowski Wieslaw, Kaczor Katarzyna, Herman-Antosiewicz Anna, Knap Narcyz, Wronska Agata, Antosiewicz Jedrzej", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32794021", "url": "https://glygen.org/publication/PubMed/32794021" } ] }, { "title": "Melatonin suppresses chronic restraint stress-mediated metastasis of epithelial ovarian cancer via NE/AKT/\u03b2-catenin/SLUG axis.", "journal": "Cell death & disease", "date": "2020-08-18", "authors": "Bu Shixia, Wang Qian, Sun Junyan, Li Xiao, Gu Tingting, Lai Dongmei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32811805", "url": "https://glygen.org/publication/PubMed/32811805" } ] }, { "title": "Enforced C-Src Activation Causes Compartmental Dysregulation of PI3K and PTEN Molecules in Lipid Rafts of Tongue Squamous Carcinoma Cells by Attenuating Rac1-Akt-GLUT-1-Mediated Sphingolipid Synthesis.", "journal": "International journal of molecular sciences", "date": "2020-08-13", "authors": "Wu Chien-Wei, Wang Shyang-Guang, Lee Ching-Hsiao, Chan Wen-Ling, Lin Meng-Liang, Chen Shih-Shun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32823607", "url": "https://glygen.org/publication/PubMed/32823607" } ] }, { "title": "Dual Inhibition of Autophagy and PI3K/AKT/MTOR Pathway as a Therapeutic Strategy in Head and Neck Squamous Cell Carcinoma.", "journal": "Cancers", "date": "2020-08-21", "authors": "Bernard Monique, Cardin Guillaume B, Cahuzac Maxime, Ayad Tareck, Bissada Eric, Guertin Louis, Bahig Houda, Nguyen-Tan Phuc Felix, Filion Edith, Ballivy Olivier, Soulieres Denis, Rodier Francis, Christopoulos Apostolos", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32825725", "url": "https://glygen.org/publication/PubMed/32825725" } ] }, { "title": "[Effects of stomatin protein expression on proliferation and apoptosis of lung cancer cells].", "journal": "Zhonghua yi xue za zhi", "date": "2020-08-25", "authors": "An H Y, Li W, Ma Y Y, Yuan W, Ma J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32829599", "url": "https://glygen.org/publication/PubMed/32829599" } ] }, { "title": "Oxyresveratrol Inhibits IL-1\u03b2-Induced Inflammation via Suppressing AKT and ERK1/2 Activation in Human Microglia, HMC3.", "journal": "International journal of molecular sciences", "date": "2020-08-22", "authors": "Hankittichai Phateep, Lou Hua Jane, Wikan Nitwara, Smith Duncan R, Potikanond Saranyapin, Nimlamool Wutigri", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32842681", "url": "https://glygen.org/publication/PubMed/32842681" } ] }, { "title": "IGF-1R inhibition induces MEK phosphorylation to promote survival in colon carcinomas.", "journal": "Signal transduction and targeted therapy", "date": "2020-08-26", "authors": "Wang Qing, Zhang Yan, Zhu Jiang, Zheng Honggang, Chen Shuntai, Chen Li, Yang Hsin-Sheng", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32843616", "url": "https://glygen.org/publication/PubMed/32843616" } ] }, { "title": "Biological Landscape of Triple Negative Breast Cancers Expressing CTLA-4.", "journal": "Frontiers in oncology", "date": "2020", "authors": "Navarrete-Bernal Mar\u00eda G C, Cervantes-Badillo Mayte G, Mart\u00ednez-Herrera Jose Fabi\u00e1n, Lara-Torres C\u00e9sar O, Gerson-Cwilich Raquel, Zentella-Dehesa Alejandro, Ibarra-S\u00e1nchez Mar\u00eda de Jes\u00fas, Esparza-L\u00f3pez Jos\u00e9, Montesinos Juan J, Cort\u00e9s-Morales V\u00edctor Adri\u00e1n, Osorio-P\u00e9rez Diego, Villegas-Osorno Diana A, Reyes-S\u00e1nchez Eduardo, Salazar-Sojo Pablo, Tallabs-Utrilla Luis F, Romero-C\u00f3rdoba Sandra, Rocha-Zavaleta Leticia", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32850353", "url": "https://glygen.org/publication/PubMed/32850353" } ] }, { "title": "Polyphenolic Proanthocyanidin-B2 suppresses proliferation of liver cancer cells and hepatocellular carcinogenesis through directly binding and inhibiting AKT activity.", "journal": "Redox biology", "date": "2020-10", "authors": "Liu Guijun, Shi Aimin, Wang Ningning, Li Min, He Xuxiao, Yin Chunzhao, Tu Qiaochu, Shen Xia, Tao Yongzhen, Wang Qiang, Yin Huiyong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32863234", "url": "https://glygen.org/publication/PubMed/32863234" } ] }, { "title": "UBR-box containing protein, UBR5, is over-expressed in human lung adenocarcinoma and is a potential therapeutic target.", "journal": "BMC cancer", "date": "2020-08-31", "authors": "Saurabh Kumar, Shah Parag P, Doll Mark A, Siskind Leah J, Beverly Levi J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32867711", "url": "https://glygen.org/publication/PubMed/32867711" } ] }, { "title": "Pea-derived peptides, VLP, LLP, VA, and LL, improve insulin resistance in HepG2 cells via activating IRS-1/PI3K/AKT and blocking ROS-mediated p38MAPK signaling.", "journal": "Journal of food biochemistry", "date": "2020-11", "authors": "Zhu Yan, Zhang Haixin, Wei Ying, Cai Muyi, Gu Ruizeng, Wang Yuchen, Ma Yong, Chen Liang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32875583", "url": "https://glygen.org/publication/PubMed/32875583" } ] }, { "title": "Endoplasmic reticulum stress causes insulin resistance by inhibiting delivery of newly synthesized insulin receptors to the cell surface.", "journal": "Molecular biology of the cell", "date": "2020-11-01", "authors": "Brown Max, Dainty Samantha, Strudwick Natalie, Mihai Adina D, Watson Jamie N, Dendooven Robina, Paton Adrienne W, Paton James C, Schr\u00f6der Martin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32877278", "url": "https://glygen.org/publication/PubMed/32877278" } ] }, { "title": "P2 \u00d7 7 Receptor Inhibits Astroglial Autophagy via Regulating FAK- and PHLPP1/2-Mediated AKT-S473 Phosphorylation Following Kainic Acid-Induced Seizures.", "journal": "International journal of molecular sciences", "date": "2020-09-04", "authors": "Lee Duk-Shin, Kim Ji-Eun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32899862", "url": "https://glygen.org/publication/PubMed/32899862" } ] }, { "title": "Inhibition of PI3K-AKT Signaling Blocks PGE2-Induced COX-2 Expression in Lung Adenocarcinoma.", "journal": "OncoTargets and therapy", "date": "2020", "authors": "Yang Jianjian, Wang Xue, Gao Yi, Fang Can, Ye Fan, Huang Bing, Li Lequn", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32904445", "url": "https://glygen.org/publication/PubMed/32904445" } ] }, { "title": "Torin2 inhibits the EGFR-TKI resistant Non-Small Lung Cancer cell proliferation through negative feedback regulation of Akt/mTOR signaling.", "journal": "Journal of Cancer", "date": "2020", "authors": "Hu Yi, Zhang Ji, Liu Qun, Ke Mingyao, Li Jiurong, Suo Wenhao, Guo Weixi, Ma Aiping", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32913468", "url": "https://glygen.org/publication/PubMed/32913468" } ] }, { "title": "A hypothesis for insulin resistance in primary human adipocytes involving MRTF-A and suppression of PPAR\u03b3.", "journal": "Biochemical and biophysical research communications", "date": "2020-11-26", "authors": "Hansson Bj\u00f6rn, Schumacher Sara, Fryklund Claes, Mor\u00e9n Bj\u00f6rn, Bj\u00f6rkqvist Maria, Sw\u00e4rd Karl, Stenkula Karin G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32921413", "url": "https://glygen.org/publication/PubMed/32921413" } ] }, { "title": "CPA4 Promotes EMT in Pancreatic Cancer via Stimulating PI3K-AKT-mTOR Signaling.", "journal": "OncoTargets and therapy", "date": "2020", "authors": "Shao Qingliang, Zhang Zhiqiang, Cao Rongxian, Zang Hui, Pei Wanting, Sun Tian", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32922037", "url": "https://glygen.org/publication/PubMed/32922037" } ] }, { "title": "Sesamin inhibits cervical cancer cell proliferation by promoting p53/PTEN-mediated apoptosis.", "journal": "International journal of medical sciences", "date": "2020", "authors": "Kuo Tian-Ni, Lin Chun-Shiang, Li Guan-De, Kuo Cheng-Yi, Kao Shao-Hsuan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32922194", "url": "https://glygen.org/publication/PubMed/32922194" } ] }, { "title": "Resveratrol modulates the apoptosis and autophagic death of human lung adenocarcinoma A549 cells via a p53\u2011dependent pathway: Integrated bioinformatics analysis and experimental validation.", "journal": "International journal of oncology", "date": "2020-10", "authors": "Fan Yameng, Li Jiaqiao, Yang Yuxuan, Zhao Xiaodan, Liu Yamei, Jiang Yude, Zhou Long, Feng Yang, Yu Yan, Cheng Yilong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32945383", "url": "https://glygen.org/publication/PubMed/32945383" } ] }, { "title": "Inactivation of AKT/NF\u2011\u03baB signaling by eurycomalactone decreases human NSCLC cell viability and improves the chemosensitivity to cisplatin.", "journal": "Oncology reports", "date": "2020-10", "authors": "Dukaew Nahathai, Chairatvit Kongthawat, Pitchakarn Pornsiri, Imsumran Arisa, Karinchai Jirarat, Tuntiwechapikul Wirote, Wongnoppavich Ariyaphong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32945500", "url": "https://glygen.org/publication/PubMed/32945500" } ] }, { "title": "The membrane-associated form of cyclin D1 enhances cellular invasion.", "journal": "Oncogenesis", "date": "2020-09-18", "authors": "Chen Ke, Jiao Xuanmao, Ashton Anthony, Di Rocco Agnese, Pestell Timothy G, Sun Yunguang, Zhao Jun, Casimiro Mathew C, Li Zhiping, Lisanti Michael P, McCue Peter A, Shen Duanwen, Achilefu Samuel, Rui Hallgeir, Pestell Richard G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32948740", "url": "https://glygen.org/publication/PubMed/32948740" } ] }, { "title": "The Receptor Tyrosine Kinase TrkA Is Increased and Targetable in HER2-Positive Breast Cancer.", "journal": "Biomolecules", "date": "2020-09-17", "authors": "Griffin Nathan, Marsland Mark, Roselli Severine, Oldmeadow Christopher, Attia John, Walker Marjorie M, Hondermarck Hubert, Faulkner Sam", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32957504", "url": "https://glygen.org/publication/PubMed/32957504" } ] }, { "title": "High Sensitivity of Circulating Tumor Cells Derived from a Colorectal Cancer Patient for Dual Inhibition with AKT and mTOR Inhibitors.", "journal": "Cells", "date": "2020-09-20", "authors": "Smit Daniel J, Cayrefourcq Laure, Haider Marie-Therese, Hinz Nico, Pantel Klaus, Alix-Panabi\u00e8res Catherine, J\u00fccker Manfred", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32962206", "url": "https://glygen.org/publication/PubMed/32962206" } ] }, { "title": "A20 promotes melanoma progression via the activation of Akt pathway.", "journal": "Cell death & disease", "date": "2020-09-23", "authors": "Ma Jinyuan, Wang Huina, Guo Sen, Yi Xiuli, Zhao Tao, Liu Yu, Shi Qiong, Gao Tianwen, Li Chunying, Guo Weinan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32968045", "url": "https://glygen.org/publication/PubMed/32968045" } ] }, { "title": "Tick-Borne Flaviviruses Depress AKT Activity during Acute Infection by Modulating AKT1/2.", "journal": "Viruses", "date": "2020-09-23", "authors": "Kirsch Joshua M, Mlera Luwanika, Offerdahl Danielle K, VanSickle Marthe, Bloom Marshall E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32977414", "url": "https://glygen.org/publication/PubMed/32977414" } ] }, { "title": "BRD4 modulates vulnerability of triple-negative breast cancer to targeting of integrin-dependent signaling pathways.", "journal": "Cellular oncology (Dordrecht)", "date": "2020-12", "authors": "Zhang Yang, Xu Bingwei, Shi Junfeng, Li Jieming, Lu Xinlan, Xu Li, Yang Helen, Hamad Nevean, Wang Chi, Napier Dana, He Shuixiang, Liu Chunming, Liu Zeyi, Qian Hai, Chen Li, Wei Xiaowei, Zheng Xucai, Huang Jian-An, Thibault Olivier, Craven Rolf, Wei Dongping, Pan Yueyin, Zhou Binhua P, Wu Yadi, Yang Xiuwei H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33006750", "url": "https://glygen.org/publication/PubMed/33006750" } ] }, { "title": "Fumonisin B1 Epigenetically Regulates PTEN Expression and Modulates DNA Damage Checkpoint Regulation in HepG2 Liver Cells.", "journal": "Toxins", "date": "2020-09-30", "authors": "Arumugam Thilona, Ghazi Terisha, Chuturgoon Anil", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33007920", "url": "https://glygen.org/publication/PubMed/33007920" } ] }, { "title": "Combinatory Treatment of Canavanine and Arginine Deprivation Efficiently Targets Human Glioblastoma Cells via Pleiotropic Mechanisms.", "journal": "Cells", "date": "2020-09-30", "authors": "Karatsai Olena, Shliaha Pavel, Jensen Ole N, Stasyk Oleh, R\u0119dowicz Maria Jolanta", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33008000", "url": "https://glygen.org/publication/PubMed/33008000" } ] }, { "title": "The Botanical Drug PBI-05204, a Supercritical CO2 Extract of Nerium Oleander, Inhibits Growth of Human Glioblastoma, Reduces Akt/mTOR Activities, and Modulates GSC Cell-Renewal Properties.", "journal": "Frontiers in pharmacology", "date": "2020", "authors": "Colapietro Alessandro, Yang Peiying, Rossetti Alessandra, Mancini Andrea, Vitale Flora, Martellucci Stefano, Conway Tara L, Chakraborty Sharmistha, Marampon Francesco, Mattei Vincenzo, Gravina Giovanni Luca, Biordi Assunta Leda, Wei Daoyan, Newman Robert A, Festuccia Claudio", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33013390", "url": "https://glygen.org/publication/PubMed/33013390" } ] }, { "title": "Regulation of RLR-Mediated Antiviral Responses of Human Dendritic Cells by mTOR.", "journal": "Frontiers in immunology", "date": "2020", "authors": "Fekete T\u00fcnde, \u00c1gics Beatrix, Bencze D\u00f3ra, Bene Kriszti\u00e1n, Sz\u00e1nt\u00f3 Ant\u00f3nia, Tarr T\u00fcnde, Ver\u00e9b Zolt\u00e1n, B\u00e1csi Attila, P\u00e1zm\u00e1ndi Kitti", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33013932", "url": "https://glygen.org/publication/PubMed/33013932" } ] }, { "title": "Sustained Release of Magnesium Ions Mediated by a Dynamic Mechanical Hydrogel to Enhance BMSC Proliferation and Differentiation.", "journal": "ACS omega", "date": "2020-09-29", "authors": "Liu Jiayu, Zeng Hongli, Xiao Peng, Yang Anqun, Situ Xingxian, Wang Yao, Zhang Xiang, Li Wenqiang, Pan Weiyi, Wang Yulong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33015464", "url": "https://glygen.org/publication/PubMed/33015464" } ] }, { "title": "Repurposing Pimavanserin, an Anti-Parkinson Drug for Pancreatic Cancer Therapy.", "journal": "Molecular therapy oncolytics", "date": "2020-12-16", "authors": "Ramachandran Sharavan, Srivastava Sanjay K", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33024816", "url": "https://glygen.org/publication/PubMed/33024816" } ] }, { "title": "Direct stimulation of ERBB2 highlights a novel cytostatic signaling pathway driven by the receptor Thr701 phosphorylation.", "journal": "Scientific reports", "date": "2020-10-09", "authors": "Gaviraghi Marco, Rabellino Andrea, Andolfo Annapaola, Brand Matthias, Brombin Chiara, Bagnato Paola, De Feudis Giuseppina, Raimondi Andrea, Locatelli Alberta, Tosoni Daniela, Mazza Davide, Gianni Luca, Tonon Giovanni, Yarden Yosef, Tacchetti Carlo, Daniele Tiziana", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33037285", "url": "https://glygen.org/publication/PubMed/33037285" } ] }, { "title": "Re-expression of DIRAS3 and p53 induces apoptosis and impaired autophagy in head and neck squamous cell carcinoma.", "journal": "Military Medical Research", "date": "2020-10-11", "authors": "Liu Zhe, Hurst Douglas R, Qu Xing, Lu Li-Guang, Wu Chen-Zhou, Li Yu-Yu, Li Yi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33038921", "url": "https://glygen.org/publication/PubMed/33038921" } ] }, { "title": "USP7 mediates pathological hepatic de novo lipogenesis through promoting stabilization and transcription of ZNF638.", "journal": "Cell death & disease", "date": "2020", "authors": "Ni W, Lin S, Bian S, Zheng W, Qu L, Fan Y, Lu C, Xiao M, Zhou P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33040080", "url": "https://glygen.org/publication/PubMed/33040080" } ] }, { "title": "Ectopic fat accumulation in human astrocytes impairs insulin action.", "journal": "Royal Society open science", "date": "2020-09", "authors": "Heni Martin, Eckstein Sabine S, Schittenhelm Jens, B\u00f6hm Anja, Hogrefe Norbert, Irmler Martin, Beckers Johannes, Hrab\u011b de Angelis Martin, H\u00e4ring Hans-Ulrich, Fritsche Andreas, Staiger Harald", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33047031", "url": "https://glygen.org/publication/PubMed/33047031" } ] }, { "title": "RAL GTPases mediate multiple myeloma cell survival and are activated independently of oncogenic RAS.", "journal": "Haematologica", "date": "2020", "authors": "Seibold M, Stuhmer T, Kremer N, Mottok A, Scholz CJ, Schlosser A, Leich E, Holzgrabe U, Brunnert D, Barrio S, Kortum MK, Solimando AG, Chatterjee M, Einsele H, Rosenwald A, Bargou RC, Steinbrunn T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33054056", "url": "https://glygen.org/publication/PubMed/33054056" } ] }, { "title": "Evaluation of the RAS signaling network in response to MEK inhibition using organoids derived from a familial adenomatous polyposis patient.", "journal": "Scientific reports", "date": "2020-10-15", "authors": "Osumi Hiroki, Muroi Atsushi, Sakahara Mizuho, Kawachi Hiroshi, Okamoto Takuya, Natsume Yasuko, Yamanaka Hitomi, Takano Hiroshi, Kusama Daisuke, Shinozaki Eiji, Ooki Akira, Yamaguchi Kensei, Ueno Masashi, Takeuchi Kengo, Noda Tetsuo, Nagayama Satoshi, Koshikawa Naohiko, Yao Ryoji", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33060766", "url": "https://glygen.org/publication/PubMed/33060766" } ] }, { "title": "LncRNA RNCR3 Promotes the Progression of HCC by Activating the Akt/GSK3\u03b2 Signaling Pathway.", "journal": "Evidence-based complementary and alternative medicine : eCAM", "date": "2020", "authors": "Xie Qi, Ju Tongfa, Zhou Chunhua, Zhai Lulu", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33062024", "url": "https://glygen.org/publication/PubMed/33062024" } ] }, { "title": "Repurposing Ziyuglycoside II Against Colorectal Cancer via Orchestrating Apoptosis and Autophagy.", "journal": "Frontiers in pharmacology", "date": "2020", "authors": "Bai Can, Zhang Zhe, Zhou Li, Zhang Huan-Yu, Chen Yan, Tang Yong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33071789", "url": "https://glygen.org/publication/PubMed/33071789" } ] }, { "title": "A novel dual MEK/PDK1 inhibitor 9za retards the cell cycle at G0/G1 phase and induces mitochondrial apoptosis in non-small cell lung cancer cells.", "journal": "PeerJ", "date": "2020", "authors": "Liu Rangru, Yu Zutao, Chen Zhuo, Liu Danqi, Huang Fengying, Li Qianbin, Hu Gaoyun, Yi Xinan, Li Xi, Zhou Honghao, Liu Zhaoqian", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33072436", "url": "https://glygen.org/publication/PubMed/33072436" } ] }, { "title": "Corrigendum to `Inhibition of cAMP/PKA Pathway Protects Optic Nerve Head Astrocytes against Oxidative Stress by Akt/Bax Phosphorylation-Mediated Mfn1/2 Oligomerization`.", "journal": "Oxidative medicine and cellular longevity", "date": "2020", "authors": "Ju Won-Kyu, Shim Myoung Sup, Kim Keun-Young, Park Tae Lim, Ahn Sangphil, Edwards Genea, Weinreb Robert N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33082914", "url": "https://glygen.org/publication/PubMed/33082914" } ] }, { "title": "Ouabain Suppresses IL-6/STAT3 Signaling and Promotes Cytokine Secretion in Cultured Skeletal Muscle Cells.", "journal": "Frontiers in physiology", "date": "2020", "authors": "Pirkmajer Sergej, Bezjak Katja, Matkovi\u010d Ur\u0161ka, Dolinar Klemen, Jiang Lake Q, Mi\u0161 Katarina, Gros Katarina, Milovanova Kseniya, Pirkmajer Katja Perdan, Mar\u0161 Toma\u017e, Kapilevich Leonid, Chibalin Alexander V", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33101052", "url": "https://glygen.org/publication/PubMed/33101052" } ] }, { "title": "Resveratrol inhibits bile acid-induced gastric intestinal metaplasia via the PI3K/AKT/p-FoxO4 signalling pathway.", "journal": "Phytotherapy research : PTR", "date": "2021-03", "authors": "Lu Wenquan, Ni Zhen, Jiang Shuqin, Tong Mingfu, Zhang Jian, Zhao Jing, Feng Chenchen, Jia Qiaoyu, Wang Jingyun, Yao Tingting, Ning Hanbing, Shi Yongquan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33103284", "url": "https://glygen.org/publication/PubMed/33103284" } ] }, { "title": "Targeting SKA3 suppresses the proliferation and chemoresistance of laryngeal squamous cell carcinoma via impairing PLK1-AKT axis-mediated glycolysis.", "journal": "Cell death & disease", "date": "2020-10-26", "authors": "Gao Wei, Zhang Yuliang, Luo Hongjie, Niu Min, Zheng Xiwang, Hu Wanglai, Cui Jiajia, Xue Xuting, Bo Yunfeng, Dai Fengsheng, Lu Yan, Yang Dongli, Guo Yujia, Guo Huina, Li Huizheng, Zhang Yu, Yang Tao, Li Li, Zhang Linshi, Hou Rui, Wen Shuxin, An Changming, Ma Teng, Jin Lei, Xu Wei, Wu Yongyan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33106477", "url": "https://glygen.org/publication/PubMed/33106477" } ] }, { "title": "White Adipose Tissue Expansion in Multiple Symmetric Lipomatosis Is Associated with Upregulation of CK2, AKT and ERK1/2.", "journal": "International journal of molecular sciences", "date": "2020-10-26", "authors": "Sanna Marta, Borgo Christian, Compagnin Chiara, Favaretto Francesca, Vindigni Vincenzo, Trento Mariangela, Bettini Silvia, Comin Alessandra, Belligoli Anna, Rugge Massimo, Bassetto Franco, Donella-Deana Arianna, Vettor Roberto, Busetto Luca, Milan Gabriella", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33114687", "url": "https://glygen.org/publication/PubMed/33114687" } ] }, { "title": "Indole hydrazide compound ZJQ-24 inhibits angiogenesis and induces apoptosis cell death through abrogation of AKT/mTOR pathway in hepatocellular carcinoma.", "journal": "Cell death & disease", "date": "2020-10-28", "authors": "Liu Jing, Liu Ying, Zhang Jianqiang, Liu Dan, Bao Yafeng, Chen Tianxing, Tang Tao, Lin Jun, Luo Ying, Jin Yi, Zhang Jihong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33116125", "url": "https://glygen.org/publication/PubMed/33116125" } ] }, { "title": "YTHDF2 mediates the mRNA degradation of the tumor suppressors to induce AKT phosphorylation in N6-methyladenosine-dependent way in prostate cancer.", "journal": "Molecular cancer", "date": "2020-10-29", "authors": "Li Jiangfeng, Xie Haiyun, Ying Yufan, Chen Hong, Yan Huaqing, He Liujia, Xu Mingjie, Xu Xin, Liang Zhen, Liu Ben, Wang Xiao, Zheng Xiangyi, Xie Liping", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33121495", "url": "https://glygen.org/publication/PubMed/33121495" } ] }, { "title": "PTH(1\u201134) activates the migration and adhesion of BMSCs through the rictor/mTORC2 pathway.", "journal": "International journal of molecular medicine", "date": "2020-12", "authors": "Lv Zhong, Muheremu Aikeremujiang, Bai Xiaochun, Zou Xuenong, Lin Tao, Chen Bailing", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33125102", "url": "https://glygen.org/publication/PubMed/33125102" } ] }, { "title": "Cholesterol-Rich Microdomains Contribute to PAR1 Signaling in Platelets Despite a Weak Localization of the Receptor in These Microdomains.", "journal": "International journal of molecular sciences", "date": "2020-10-29", "authors": "Rabani Vahideh, Lagoutte-Renosi Jennifer, Series Jennifer, Valot Benoit, Xuereb Jean-Marie, Davani Siamak", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33138025", "url": "https://glygen.org/publication/PubMed/33138025" } ] }, { "title": "Myostatin-1 Inhibits Cell Proliferation by Inhibiting the mTOR Signal Pathway and MRFs, and Activating the Ubiquitin-Proteasomal System in Skeletal Muscle Cells of Japanese Flounder Paralichthys olivaceus.", "journal": "Cells", "date": "2020-10-29", "authors": "Liu Jiahuan, Pan Mingzhu, Huang Dong, Guo Yanlin, Yang Mengxi, Zhang Wenbing, Mai Kangsen", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33138208", "url": "https://glygen.org/publication/PubMed/33138208" } ] }, { "title": "Copanlisib promotes growth inhibition and apoptosis by modulating the AKT/FoxO3a/PUMA axis in colorectal cancer.", "journal": "Cell death & disease", "date": "2020-11-02", "authors": "Yan Ji, Yang Shida, Tian Hong, Zhang Yang, Zhao Hongmei", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33139695", "url": "https://glygen.org/publication/PubMed/33139695" } ] }, { "title": "Guanine nucleotide binding protein like-1 (GNL1) promotes cancer cell proliferation and survival through AKT/p21 (CIP1) signaling cascade.", "journal": "Molecular biology of the cell", "date": "2020", "authors": "Krishnan R, Murugiah M, Lakshmi NP, Mahalingam S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33147101", "url": "https://glygen.org/publication/PubMed/33147101" } ] }, { "title": "KIF3C Promotes Proliferation, Migration, and Invasion of Glioma Cells by Activating the PI3K/AKT Pathway and Inducing EMT.", "journal": "BioMed research international", "date": "2020", "authors": "Gao Y, Zheng H, Li L, Zhou C, Chen X, Zhou X, Cao Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33150178", "url": "https://glygen.org/publication/PubMed/33150178" } ] }, { "title": "Characterization of Mutational Status, Spheroid Formation, and Drug Response of a New Genomically-Stable Human Ovarian Clear Cell Carcinoma Cell Line, 105C.", "journal": "Cells", "date": "2020-11-03", "authors": "Kolendowski Bart, Valdes Yudith Ramos, Hirte Hal, Itamochi Hiroaki, Lee Wonjae, Carey Mark, Shepherd Trevor G, DiMattia Gabriel E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33153119", "url": "https://glygen.org/publication/PubMed/33153119" } ] }, { "title": "Screening of a Panel of Low Molecular Weight Compounds That Inhibit Synovial Fibroblast Invasion in Rheumatoid Arthritis.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2020-12-15", "authors": "Sugiura Tomoko, Kamino Hiroki, Nariai Yuko, Murakawa Yohko, Kondo Masahiro, Kawakami Makoto, Ikeda Noboru, Uchio Yuji, Urano Takeshi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33177160", "url": "https://glygen.org/publication/PubMed/33177160" } ] }, { "title": "Correlation of PRL3 expression with colorectal cancer progression.", "journal": "Journal of surgical oncology", "date": "2021-01", "authors": "Leiphrakpam Premila D, Lazenby Audrey J, Smith Lynette M, Brattain Michael G, Black Jennifer D, Wang Jing, Are Chandrakanth", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33179291", "url": "https://glygen.org/publication/PubMed/33179291" } ] }, { "title": "DEPTOR is a direct p53 target that suppresses cell growth and chemosensitivity.", "journal": "Cell death & disease", "date": "2020-11-12", "authors": "Cui Danrui, Dai Xiaoqing, Gong Longyuan, Chen Xiaoyu, Wang Linchen, Xiong Xiufang, Zhao Yongchao", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33184290", "url": "https://glygen.org/publication/PubMed/33184290" } ] }, { "title": "Insulin Promotes Mitochondrial Respiration and Survival through PI3K/AKT/GSK3 Pathway in Human Embryonic Stem Cells.", "journal": "Stem cell reports", "date": "2020-12-08", "authors": "Ren Zhili, Zhong Hui, Song Chengcheng, Deng Chunhao, Hsieh Hsun-Ting, Liu Weiwei, Chen Guokai", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33186539", "url": "https://glygen.org/publication/PubMed/33186539" } ] }, { "title": "7-dehydrocholesterol suppresses melanoma cell proliferation and invasion via Akt1/NF-\u03baB signaling.", "journal": "Oncology letters", "date": "2020-12", "authors": "Liu Jia, Zhong Feiliang, Cao Lei, Zhu Ruiying, Qu Junze, Yang Lin, Chen Tingting, Hu Yunlong, Wang Ying, Yao Mingdong, Xiao Wenhai, Li Chun, Li Bo, Yuan Yingjin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33193858", "url": "https://glygen.org/publication/PubMed/33193858" } ] }, { "title": "The PI3K/AKT Pathway Is Activated by HGF in NT2D1 Non-Seminoma Cells and Has a Role in the Modulation of Their Malignant Behavior.", "journal": "International journal of molecular sciences", "date": "2020-11-17", "authors": "Gesualdi Luisa, Leonetti Erica, Cucina Alessandra, Scicchitano Bianca Maria, Sorrentino Silvia, Tarsitano Maria Grazia, Isidori Andrea, Bizzarri Mariano, Filippini Antonio, Riccioli Anna, Cammarota Marcella, Gigantino Vincenzo, Ricci Giulia, Catizone Angela", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33212946", "url": "https://glygen.org/publication/PubMed/33212946" } ] }, { "title": "Vascular endothelial growth factor encoded by Parapoxviruses can regulate metabolism and survival of triple negative breast cancer cells.", "journal": "Cell death & disease", "date": "2020-11-20", "authors": "Bose Dipayan, Banerjee Sagarika, Singh Rajnish Kumar, Wise Lyn M, Robertson Erle S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33219203", "url": "https://glygen.org/publication/PubMed/33219203" } ] }, { "title": "Aberrant methylation of GADD45A is associated with decreased radiosensitivity in cervical cancer through the PI3K/AKT signaling pathway.", "journal": "Oncology letters", "date": "2021-01", "authors": "Lou Meng, Li Rong, Lang Ting-Yuan, Zhang Li-Ying, Zhou Qi, Li Li", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33240414", "url": "https://glygen.org/publication/PubMed/33240414" } ] }, { "title": "Isobacachalcone induces autophagy and improves the outcome of immunogenic chemotherapy.", "journal": "Cell death & disease", "date": "2020-11-26", "authors": "Wu Qi, Tian Ai-Ling, Durand Sylv\u00e8re, Aprahamian Fanny, Nirmalathasan Nitharsshini, Xie Wei, Liu Peng, Zhao Liwei, Zhang Shuai, Pan Hui, Carmona-Gutierrez Didac, Madeo Frank, Tu Yi, Kepp Oliver, Kroemer Guido", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33243998", "url": "https://glygen.org/publication/PubMed/33243998" } ] }, { "title": "Sitagliptin Modulates the Response of Ovarian Cancer Cells to Chemotherapeutic Agents.", "journal": "International journal of molecular sciences", "date": "2020-11-26", "authors": "Kosowska Agnieszka, Garczorz Wojciech, K\u0142ych-Ratuszny Agnieszka, Aghdam Mohammad Reza F, Kimsa-Furdzik Ma\u0142gorzata, Simka-Lampa Klaudia, Francuz Tomasz", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33256016", "url": "https://glygen.org/publication/PubMed/33256016" } ] }, { "title": "Inhibition of AKT-Signaling Sensitizes Soft Tissue Sarcomas (STS) and Gastrointestinal Stromal Tumors (GIST) to Doxorubicin via Targeting of Homology-Mediated DNA Repair.", "journal": "International journal of molecular sciences", "date": "2020-11-22", "authors": "Boichuk Sergei, Bikinieva Firuza, Nurgatina Ilmira, Dunaev Pavel, Valeeva Elena, Aukhadieva Aida, Sabirov Alexey, Galembikova Aigul", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33266502", "url": "https://glygen.org/publication/PubMed/33266502" } ] }, { "title": "Design and development of Tetrahydro-Quinoline derivatives as dual mTOR-C1/C2 inhibitors for the treatment of lung cancer.", "journal": "Bioorganic chemistry", "date": "2021-01", "authors": "Chaube Udit J, Rawal Rakesh, Jha Abhishek B, Variya Bhavesh, Bhatt Hardik G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33280832", "url": "https://glygen.org/publication/PubMed/33280832" } ] }, { "title": "Effects of Inonotus obliquus Polysaccharides on Proliferation, Invasion, Migration, and Apoptosis of Osteosarcoma Cells.", "journal": "Analytical cellular pathology (Amsterdam)", "date": "2020", "authors": "Su Baohui, Yan Xuezhi, Li Yuezhong, Zhang Junshan, Xia Xiaoyan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33282634", "url": "https://glygen.org/publication/PubMed/33282634" } ] }, { "title": "Cytotoxic and Antiproliferative Effects of \u03b2-Mangostin on Rat C6 Glioma Cells Depend on Oxidative Stress Induction via PI3K/AKT/mTOR Pathway Inhibition.", "journal": "Drug design, development and therapy", "date": "2020", "authors": "Li Kaiqiang, Wu Lingling, Chen Yili, Li Yuanyuan, Wang Qianni, Li Min, Hao Ke, Zhang Wei, Jiang Shanshan, Wang Zhen", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33293793", "url": "https://glygen.org/publication/PubMed/33293793" } ] }, { "title": "Combination treatment with a PI3K/Akt/mTOR pathway inhibitor overcomes resistance to anti-HER2 therapy in PIK3CA-mutant HER2-positive breast cancer cells.", "journal": "Scientific reports", "date": "2020-12-10", "authors": "Fujimoto Yumi, Morita Tomoko Yamamori, Ohashi Akihiro, Haeno Hiroshi, Hakozaki Yumi, Fujii Masanori, Kashima Yukie, Kobayashi Susumu S, Mukohara Toru", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33303839", "url": "https://glygen.org/publication/PubMed/33303839" } ] }, { "title": "An autoregulatory feedback loop of miR-21/VMP1 is responsible for the abnormal expression of miR-21 in colorectal cancer cells.", "journal": "Cell death & disease", "date": "2020-12-14", "authors": "Wang Caixia, Peng Rui, Zeng Min, Zhang Zhenhua, Liu Shengpeng, Jiang Dan, Lu Yuanyuan, Zou Fangdong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33318473", "url": "https://glygen.org/publication/PubMed/33318473" } ] }, { "title": "Combined PI3K\u03b1-mTOR Targeting of Glioma Stem Cells.", "journal": "Scientific reports", "date": "2020-12-14", "authors": "Eckerdt Frank D, Bell Jonathan B, Gonzalez Christopher, Oh Michael S, Perez Ricardo E, Mazewski Candice, Fischietti Mariafausta, Goldman Stewart, Nakano Ichiro, Platanias Leonidas C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33318517", "url": "https://glygen.org/publication/PubMed/33318517" } ] }, { "title": "Differential Regulation of mTOR Complexes with miR-302a Attenuates Myocardial Reperfusion Injury in Diabetes.", "journal": "iScience", "date": "2020-12-18", "authors": "Samidurai Arun, Ockaili Ramzi, Cain Chad, Roh Sean K, Filippone Scott M, Kraskauskas Donatas, Kukreja Rakesh C, Das Anindita", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33319180", "url": "https://glygen.org/publication/PubMed/33319180" } ] }, { "title": "Hexameric procyanidins inhibit colorectal cancer cell growth through both redox and non-redox regulation of the epidermal growth factor signaling pathway.", "journal": "Redox biology", "date": "2021-01", "authors": "Daveri Elena, Adamo Ana M, Alfine Eugenia, Zhu Wei, Oteiza Patricia I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33338921", "url": "https://glygen.org/publication/PubMed/33338921" } ] }, { "title": "Prognostic Role of the Activated p-AKT Molecule in Various Hematologic Malignancies and Solid Tumors: A Meta-Analysis.", "journal": "Frontiers in oncology", "date": "2020", "authors": "Yao Zhen, Gao Guangyu, Yang Jiawen, Long Yuming, Wang Zhenzhen, Hu Wentao, Liu Yulong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33363017", "url": "https://glygen.org/publication/PubMed/33363017" } ] }, { "title": "The efficacy of the anticancer 3-bromopyruvate is potentiated by antimycin and menadione by unbalancing mitochondrial ROS production and disposal in U118 glioblastoma cells.", "journal": "Heliyon", "date": "2020-12", "authors": "Petricciuolo Maya, Davidescu Magdalena, Fettucciari Katia, Gatticchi Leonardo, Brancorsini Stefano, Roberti Rita, Corazzi Lanfranco, Macchioni Lara", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33364504", "url": "https://glygen.org/publication/PubMed/33364504" } ] }, { "title": "Perphenazine exerts antitumor effects on HUT78 cells through Akt dephosphorylation by protein phosphatase 2A.", "journal": "Oncology letters", "date": "2021-02", "authors": "Tsuji Shunya, Kohyanagi Naoki, Mizuno Takuya, Ohama Takashi, Sato Koichi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33376545", "url": "https://glygen.org/publication/PubMed/33376545" } ] }, { "title": "Comparing mTOR inhibitor Rapamycin with Torin-2 within the RIST molecular-targeted regimen in neuroblastoma cells.", "journal": "International journal of medical sciences", "date": "2021", "authors": "Waetzig Rebecca, Matthes Marie, Leister Johannes, Penkivech Gina, Heise Tilman, Corbacioglu Selim, Sommer Gunhild", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33390782", "url": "https://glygen.org/publication/PubMed/33390782" } ] }, { "title": "Sex Differences in the Pro-Angiogenic Response of Human Endothelial Cells: Focus on PFKFB3 and FAK Activation.", "journal": "Frontiers in pharmacology", "date": "2020", "authors": "Boscaro Carlotta, Trenti Annalisa, Baggio Chiara, Scapin Chiara, Trevisi Lucia, Cignarella Andrea, Bolego Chiara", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33390959", "url": "https://glygen.org/publication/PubMed/33390959" } ] }, { "title": "Safrana l Prevents Prostate Cancer Recurrence by Blocking the Re-activation of Quiescent Cancer Cells via Downregulation of S-Phase Kinase-Associated Protein 2.", "journal": "Frontiers in cell and developmental biology", "date": "2020", "authors": "Jiang Xue, Li Yang, Feng Ji-Ling, Nik Nabil Wan Najbah, Wu Rong, Lu Yue, Liu Hua, Xi Zhi-Chao, Xu Hong-Xi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33392189", "url": "https://glygen.org/publication/PubMed/33392189" } ] }, { "title": "Synergism between the phosphatidylinositol 3-kinase p110\u03b2 isoform inhibitor AZD6482 and the mixed lineage kinase 3 inhibitor URMC-099 on the blockade of glioblastoma cell motility and focal adhesion formation.", "journal": "Cancer cell international", "date": "2021-01-06", "authors": "Zhao Hua-Fu, Wu Chang-Peng, Zhou Xiu-Ming, Diao Peng-Yu, Xu Yan-Wen, Liu Jing, Wang Jing, Huang Xian-Jian, Liu Wen-Lan, Chen Zhong-Ping, Huang Guo-Dong, Li Wei-Ping", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33407478", "url": "https://glygen.org/publication/PubMed/33407478" } ] }, { "title": "Inflammatory M1-like macrophages polarized by NK-4 undergo enhanced phenotypic switching to an anti-inflammatory M2-like phenotype upon co-culture with apoptotic cells.", "journal": "Journal of inflammation (London, England)", "date": "2021-01-07", "authors": "Kohno Keizo, Koya-Miyata Satomi, Harashima Akira, Tsukuda Takahiko, Katakami Masataka, Ariyasu Toshio, Ushio Shimpei, Iwaki Kanso", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33413430", "url": "https://glygen.org/publication/PubMed/33413430" } ] }, { "title": "MIEF2 reprograms lipid metabolism to drive progression of ovarian cancer through ROS/AKT/mTOR signaling pathway.", "journal": "Cell death & disease", "date": "2021", "authors": "Zhao S, Cheng L, Shi Y, Li J, Yun Q, Yang H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33414447", "url": "https://glygen.org/publication/PubMed/33414447" } ] }, { "title": "KNSTRN promotes tumorigenesis and gemcitabine resistance by activating AKT in bladder cancer.", "journal": "Oncogene", "date": "2021", "authors": "Xiong Y, Ju L, Yuan L, Chen L, Wang G, Xu H, Peng T, Luo Y, Xiao Y, Wang X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33452459", "url": "https://glygen.org/publication/PubMed/33452459" } ] }, { "title": "Expression of HYOU1 via Reciprocal Crosstalk between NSCLC Cells and HUVECs Control Cancer Progression and Chemoresistance in Tumor Spheroids.", "journal": "Molecules and cells", "date": "2021", "authors": "Lee M, Song Y, Choi I, Lee SY, Kim S, Kim SH, Kim J, Seo HR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33455947", "url": "https://glygen.org/publication/PubMed/33455947" } ] }, { "title": "PI3K/Akt pathway and Nanog maintain cancer stem cells in sarcomas.", "journal": "Oncogenesis", "date": "2021-01-19", "authors": "Yoon Changhwan, Lu Jun, Yi Brendan C, Chang Kevin K, Simon M Celeste, Ryeom Sandra, Yoon Sam S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33468992", "url": "https://glygen.org/publication/PubMed/33468992" } ] }, { "title": "Virtual Screening of Natural Compounds as Potential PI3K-AKT1 Signaling Pathway Inhibitors and Experimental Validation.", "journal": "Molecules (Basel, Switzerland)", "date": "2021-01-18", "authors": "Dotolo Serena, Cervellera Carmen, Russo Maria, Russo Gian Luigi, Facchiano Angelo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33477701", "url": "https://glygen.org/publication/PubMed/33477701" } ] }, { "title": "TROAP switches DYRK1 activity to drive hepatocellular carcinoma progression.", "journal": "Cell death & disease", "date": "2021", "authors": "Li L, Wei JR, Song Y, Fang S, Du Y, Li Z, Zeng TT, Zhu YH, Li Y, Guan XY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33500384", "url": "https://glygen.org/publication/PubMed/33500384" } ] }, { "title": "PI3K/AKT signaling drives titanium-induced angiogenic stimulus.", "journal": "Journal of materials science. Materials in medicine", "date": "2021-01-27", "authors": "Martins Bruna Rodrigues, Pinto Thais Silva, da Costa Fernandes C\u00e9lio Junior, Bezerra F\u00e1bio, Zambuzzi Willian Fernando", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33506378", "url": "https://glygen.org/publication/PubMed/33506378" } ] }, { "title": "Desialylation of Atg5 by sialidase (Neu2) enhances autophagosome formation to induce anchorage-dependent cell death in ovarian cancer cells.", "journal": "Cell death discovery", "date": "2021-02-01", "authors": "Satyavarapu Eswara Murali, Nath Shalini, Mandal Chitra", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33526785", "url": "https://glygen.org/publication/PubMed/33526785" } ] }, { "title": "Ovalitenone Inhibits the Migration of Lung Cancer Cells via the Suppression of AKT/mTOR and Epithelial-to-Mesenchymal Transition.", "journal": "Molecules (Basel, Switzerland)", "date": "2021-01-26", "authors": "Sanookpan Kittipong, Nonpanya Nongyao, Sritularak Boonchoo, Chanvorachote Pithi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33530617", "url": "https://glygen.org/publication/PubMed/33530617" } ] }, { "title": "Phosphatidic Acid Stimulates Myoblast Proliferation through Interaction with LPA1 and LPA2 Receptors.", "journal": "International journal of molecular sciences", "date": "2021-02-01", "authors": "Gomez-Larrauri Ana, Gangoiti Patricia, Presa Natalia, Dominguez-Herrera Asier, Donati Chiara, Bruni Paola, Trueba Miguel, Gomez-Mu\u00f1oz Antonio, Ouro Alberto", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33535610", "url": "https://glygen.org/publication/PubMed/33535610" } ] }, { "title": "CDK6 is stimulated by hyperthermia and protects gastric cancer cells from hyperthermia\u2011induced damage.", "journal": "Molecular medicine reports", "date": "2021-04", "authors": "Liu Guanghui, Zhao Hongchao, Ding Qingqing, Li Haohao, Liu Tao, Yang Hongwei, Liu Yuanhua", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33537819", "url": "https://glygen.org/publication/PubMed/33537819" } ] }, { "title": "Rictor/mTORC2 involves mitochondrial function in ES cells derived cardiomyocytes via mitochondrial Connexin 43.", "journal": "Acta pharmacologica Sinica", "date": "2021-11", "authors": "Wang Jia-Dan, Shao Ying, Liu Dan, Liu Nuo-Ya, Zhu Dan-Yan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33547375", "url": "https://glygen.org/publication/PubMed/33547375" } ] }, { "title": "Helicobacter pylori induces epithelial-mesenchymal transition in gastric carcinogenesis via the AKT/GSK3\u03b2 signaling pathway.", "journal": "Oncology letters", "date": "2021-02", "authors": "Ouyang Yaobin, Liu Gongmeizi, Xu Wenting, Yang Zhen, Li Nianshuang, Xie Chuan, Zhou Chun, Chen Jiang, Zhu Yin, Hong Junbo, Lu Nonghua", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33552283", "url": "https://glygen.org/publication/PubMed/33552283" } ] }, { "title": "The Increased Expression of Regulator of G-Protein Signaling 2 (RGS2) Inhibits Insulin-Induced Akt Phosphorylation and Is Associated with Uncontrolled Glycemia in Patients with Type 2 Diabetes.", "journal": "Metabolites", "date": "2021-02-05", "authors": "Vazquez-Jimenez J Gustavo, Corpus-Navarro M Stephanie, Rodriguez-Chavez J Miguel, Jaramillo-Ramirez Hiram J, Hernandez-Aranda Judith, Galindo-Hernandez Octavio, Machado-Contreras J Rene, Trejo-Trejo Marina, Guerrero-Hernandez Agustin, Olivares-Reyes J Alberto", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33562475", "url": "https://glygen.org/publication/PubMed/33562475" } ] }, { "title": "MG53 is not a critical regulator of insulin signaling pathway in skeletal muscle.", "journal": "PloS one", "date": "2021", "authors": "Philouze C, Turban S, Cremers B, Caliez A, Lamarche G, Bernard C, Provost N, Delerive P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33566837", "url": "https://glygen.org/publication/PubMed/33566837" } ] }, { "title": "The high expression of NUDT5 indicates poor prognosis of breast cancer by modulating AKT / Cyclin D signaling.", "journal": "PloS one", "date": "2021", "authors": "Zhang H, Zhang LQ, Yang CC, Li J, Tian XY, Li DN, Cui J, Cai JP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33571243", "url": "https://glygen.org/publication/PubMed/33571243" } ] }, { "title": "Therapeutic potential of IBP as an autophagy inducer for treating lung cancer via blocking PAK1/Akt/mTOR signaling.", "journal": "Molecular therapy oncolytics", "date": "2021-03-26", "authors": "Bu Huimin, Tan Shirui, Yuan Bo, Huang Xiaomei, Jiang Jiebang, Wu Yejiao, Jiang Jihong, Li Rongpeng", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33575473", "url": "https://glygen.org/publication/PubMed/33575473" } ] }, { "title": "Morusin inhibits the growth of human colorectal cancer HCT116\u2011derived sphere\u2011forming cells via the inactivation of Akt pathway.", "journal": "International journal of molecular medicine", "date": "2021-04", "authors": "Zhou Yuqi, Li Xiangyong, Ye Min", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33576447", "url": "https://glygen.org/publication/PubMed/33576447" } ] }, { "title": "Fibronectin mediates activation of stromal fibroblasts by SPARC in endometrial cancer cells.", "journal": "BMC cancer", "date": "2021-02-12", "authors": "Yoshida Sachiko, Asanoma Kazuo, Yagi Hiroshi, Onoyama Ichiro, Hori Emiko, Matsumura Yumiko, Okugawa Kaoru, Yahata Hideaki, Kato Kiyoko", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33579227", "url": "https://glygen.org/publication/PubMed/33579227" } ] }, { "title": "Long Non-coding RNA BTG3-7:1 and JUND Co-regulate C21ORF91 to Promote Triple-Negative Breast Cancer Progress.", "journal": "Frontiers in molecular biosciences", "date": "2020", "authors": "Dan Zheng, Xiujing He, Ting Luo, Xiaorong Zhong, Hong Zheng, Jiqiao Yang, Yanchu Li, Jing Jing", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33585557", "url": "https://glygen.org/publication/PubMed/33585557" } ] }, { "title": "Loss of PR55\u03b1 promotes proliferation and metastasis by activating MAPK/AKT signaling in hepatocellular carcinoma.", "journal": "Cancer cell international", "date": "2021-02-15", "authors": "Zhao JiangSheng, Chen GuoFeng, Li Jingqi, Liu Shiqi, Jin Quan, Zhang ZhengWei, Qi Fuzhen, Zhang JianHuai, Xu JianBo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33588847", "url": "https://glygen.org/publication/PubMed/33588847" } ] }, { "title": "Toxicarioside O Inhibits Cell Proliferation and Epithelial-Mesenchymal Transition by Downregulation of Trop2 in Lung Cancer Cells.", "journal": "Frontiers in oncology", "date": "2020", "authors": "Zheng Wu-Ping, Huang Feng-Ying, Dai Shu-Zhen, Wang Jin-Yan, Lin Ying-Ying, Sun Yan, Tan Guang-Hong, Huang Yong-Hao", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33614493", "url": "https://glygen.org/publication/PubMed/33614493" } ] }, { "title": "Phospho-Form Specific Substrates of Protein Kinase B (AKT1).", "journal": "Frontiers in bioengineering and biotechnology", "date": "2020", "authors": "McKenna McShane, Balasuriya Nileeka, Zhong Shanshan, Li Shawn Shun-Cheng, O'Donoghue Patrick", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33614606", "url": "https://glygen.org/publication/PubMed/33614606" } ] }, { "title": "Rituximab and obinutuzumab differentially hijack the B cell receptor and NOTCH1 signaling pathways.", "journal": "iScience", "date": "2021-02-19", "authors": "Edelmann Jennifer, Dokal Arran D, Vilventhraraja Emma, Holzmann Karlheinz, Britton David, Klymenko Tetyana, D\u00f6hner Hartmut, Cragg Mark, Braun Andrejs, Cutillas Pedro, Gribben John G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33615197", "url": "https://glygen.org/publication/PubMed/33615197" } ] }, { "title": "Akt-independent effects of triciribine on ACE2 expression in human lung epithelial cells: Potential benefits in restricting SARS-CoV2 infection.", "journal": "Journal of cellular physiology", "date": "2021-09", "authors": "Adil Mir S, Verma Arti, Rudraraju Madhuri, Narayanan S Priya, Somanath Payaningal R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33624300", "url": "https://glygen.org/publication/PubMed/33624300" } ] }, { "title": "CircWAC induces chemotherapeutic resistance in triple-negative breast cancer by targeting miR-142, upregulating WWP1 and activating the PI3K/AKT pathway.", "journal": "Molecular cancer", "date": "2021", "authors": "Wang L, Zhou Y, Jiang L, Lu L, Dai T, Li A, Chen Y, Zhang L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33648498", "url": "https://glygen.org/publication/PubMed/33648498" } ] }, { "title": "Pictilisib Enhances the Antitumor Effect of Doxorubicin and Prevents Tumor-Mediated Bone Destruction by Blockade of PI3K/AKT Pathway.", "journal": "Frontiers in oncology", "date": "2020", "authors": "Liang Chao, Yu Xijiao, Xiong Naping, Zhang Zhichang, Sun Zhenyu, Dong Yang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33659212", "url": "https://glygen.org/publication/PubMed/33659212" } ] }, { "title": "Akt Is S-Palmitoylated: A New Layer of Regulation for Akt.", "journal": "Frontiers in cell and developmental biology", "date": "2021", "authors": "Blaustein Mat\u00edas, Piegari Estefan\u00eda, Mart\u00ednez Calejman Camila, Vila Antonella, Amante Anal\u00eda, Manese Mar\u00eda Victoria, Zeida Ari, Abrami Laurence, Veggetti Mariela, Guertin David A, van der Goot F Gisou, Corvi Mar\u00eda Martha, Colman-Lerner Alejandro", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33659252", "url": "https://glygen.org/publication/PubMed/33659252" } ] }, { "title": "Prolonged cetuximab treatment promotes p27Kip1-mediated G1 arrest and autophagy in head and neck squamous cell carcinoma.", "journal": "Scientific reports", "date": "2021-03-04", "authors": "Okuyama Kohei, Suzuki Keiji, Naruse Tomofumi, Tsuchihashi Hiroki, Yanamoto Souichi, Kaida Atsushi, Miura Masahiko, Umeda Masahiro, Yamashita Shunichi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33664437", "url": "https://glygen.org/publication/PubMed/33664437" } ] }, { "title": "Vitamin C sensitizes triple negative breast cancer to PI3K inhibition therapy.", "journal": "Theranostics", "date": "2021", "authors": "Mustafi Sushmita, Camarena Vladimir, Qureshi Rehana, Sant David W, Wilkes Zachary, Bilbao Daniel, Slingerland Joyce, Kesmodel Susan B, Wang Gaofeng", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33664847", "url": "https://glygen.org/publication/PubMed/33664847" } ] }, { "title": "Knockdown of AKT3 Activates HER2 and DDR Kinases in Bone-Seeking Breast Cancer Cells, Promotes Metastasis In Vivo and Attenuates the TGF\u03b2/CTGF Axis.", "journal": "Cells", "date": "2021-02-18", "authors": "Hinz Nico, Baranowsky Anke, Horn Michael, Kriegs Malte, Sibbertsen Freya, Smit Daniel J, Clezardin Philippe, Lange Tobias, Schinke Thorsten, J\u00fccker Manfred", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33670586", "url": "https://glygen.org/publication/PubMed/33670586" } ] }, { "title": "ERK and mTORC1 Inhibitors Enhance the Anti-Cancer Capacity of the Octpep-1 Venom-Derived Peptide in Melanoma BRAF(V600E) Mutations.", "journal": "Toxins", "date": "2021-02-14", "authors": "Moral-Sanz Javier, Fernandez-Rojo Manuel A, Potriquet Jeremy, Mukhopadhyay Pamela, Brust Andreas, Wilhelm Patrick, Smallwood Taylor B, Clark Richard J, Fry Bryan G, Alewood Paul F, Waddell Nicola, Miles John J, Mulvenna Jason P, Ikonomopoulou Maria P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33672955", "url": "https://glygen.org/publication/PubMed/33672955" } ] }, { "title": "Cannabidiol induces autophagy via ERK1/2 activation in neural cells.", "journal": "Scientific reports", "date": "2021-03-08", "authors": "Vrechi Talita A M, Le\u00e3o Anderson H F F, Morais Ingrid B M, Ab\u00edlio Vanessa C, Zuardi Antonio W, Hallak Jaime Eduardo C, Crippa Jos\u00e9 Alexandre, Bincoletto Claudia, Ureshino Rodrigo P, Smaili Soraya S, Pereira Gustavo J S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33686185", "url": "https://glygen.org/publication/PubMed/33686185" } ] }, { "title": "AKT-dependent signaling of extracellular cues through telomeres impact on tumorigenesis.", "journal": "PLoS genetics", "date": "2021-03", "authors": "S\u00e1nchez-V\u00e1zquez Ra\u00fal, Mart\u00ednez Paula, Blasco Maria A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33690611", "url": "https://glygen.org/publication/PubMed/33690611" } ] }, { "title": "Rapamycin-Loaded Lipid Nanocapsules Induce Selective Inhibition of the mTORC1-Signaling Pathway in Glioblastoma Cells.", "journal": "Frontiers in bioengineering and biotechnology", "date": "2020", "authors": "S\u00e9h\u00e9dic Delphine, Roncali Loris, Djoudi Amel, Buchtova Nela, Avril Sylvie, Ch\u00e9rel Michel, Boury Frank, Lacoeuille Franck, Hindr\u00e9 Fran\u00e7ois, Garcion Emmanuel", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33718332", "url": "https://glygen.org/publication/PubMed/33718332" } ] }, { "title": "CircRNA circ_0124554 blocked the ubiquitination of AKT promoting the skip lymphovascular invasion on hepatic metastasis in colorectal cancer.", "journal": "Cell death & disease", "date": "2021-03-15", "authors": "Tang Junwei, Zhang Chuan, Huang Yuanjian, Wang Lu, Xu Ziwei, Zhang Dongsheng, Zhang Yue, Peng Wen, Feng Yifei, Sun Yueming", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33723214", "url": "https://glygen.org/publication/PubMed/33723214" } ] }, { "title": "FoxP3-miR-150-5p/3p suppresses ovarian tumorigenesis via an IGF1R/IRS1 pathway feedback loop.", "journal": "Cell death & disease", "date": "2021-03-15", "authors": "Zhang Qinkai, Zhou Xunzhu, Wan Maoping, Zeng Xixi, Luo Jiarong, Xu Yesha, Ji Liying, Zhang Jian-An, Fan Pei, Zhong Jianing, Wu Jianmin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33723215", "url": "https://glygen.org/publication/PubMed/33723215" } ] }, { "title": "Targeting the autophagy promoted antitumor effect of T-DM1 on HER2-positive gastric cancer.", "journal": "Cell death & disease", "date": "2021-03-17", "authors": "Zhang Jinghui, Fan Jiajun, Zeng Xian, Nie Mingming, Chen Wei, Wang Yichen, Luan Jingyun, Zhu Zeguo, Chang Xusheng, Ju Dianwen, Feng Li, Yin Kai", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33731670", "url": "https://glygen.org/publication/PubMed/33731670" } ] }, { "title": "MicroRNA-185 inhibits the proliferation and migration of HaCaT keratinocytes by targeting peroxisome proliferator-activated receptor \u03b2.", "journal": "Experimental and therapeutic medicine", "date": "2021-04", "authors": "Yang Jingzhe, Deng Pingyang, Qi Yonggang, Feng Xinshu, Wen Hailing, Chen Fengping", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33732339", "url": "https://glygen.org/publication/PubMed/33732339" } ] }, { "title": "Transmembrane and coiled-coil domain family 3 (TMCC3) regulates breast cancer stem cell and AKT activation.", "journal": "Oncogene", "date": "2021", "authors": "Wang YH, Chan YT, Hung TH, Hung JT, Kuo MW, Wang SH, Huang Y, Lin YJ, Chen SC, Yu JC, Wu JC, Yu J, Yu AL", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33742122", "url": "https://glygen.org/publication/PubMed/33742122" } ] }, { "title": "Erianthridin suppresses non-small-cell lung cancer cell metastasis through inhibition of Akt/mTOR/p70S6K signaling pathway.", "journal": "Scientific reports", "date": "2021-03-23", "authors": "Pothongsrisit Sutthaorn, Arunrungvichian Kuntarat, Hayakawa Yoshihiro, Sritularak Boonchoo, Mangmool Supachoke, Pongrakhananon Varisa", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33758209", "url": "https://glygen.org/publication/PubMed/33758209" } ] }, { "title": "In oxygen-deprived tumor cells ERp57 provides radioprotection and ensures proliferation via c-Myc, PLK1 and the AKT pathway.", "journal": "Scientific reports", "date": "2021-03-30", "authors": "Ocklenburg Tobias, Neumann Fabian, Wolf Alexandra, Vogel Julia, G\u00f6pelt Kirsten, Baumann Melanie, Baumann Jennifer, Kranz Philip, Metzen Eric, Brockmeier Ulf", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33785835", "url": "https://glygen.org/publication/PubMed/33785835" } ] }, { "title": "Theasaponin E1 Inhibits Platinum-Resistant Ovarian Cancer Cells through Activating Apoptosis and Suppressing Angiogenesis.", "journal": "Molecules (Basel, Switzerland)", "date": "2021-03-17", "authors": "Li Bo, Tong Tuantuan, Ren Ning, Rankin Gary O, Rojanasakul Yon, Tu Youying, Chen Yi Charlie", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33802884", "url": "https://glygen.org/publication/PubMed/33802884" } ] }, { "title": "Growth and Viability of Cutaneous Squamous Cell Carcinoma Cell Lines Display Different Sensitivities to Isoform-Specific Phosphoinositide 3-Kinase Inhibitors.", "journal": "International journal of molecular sciences", "date": "2021-03-30", "authors": "Mannella Viviana, Boehm Kira, Celik Suheyla, Ali Tasnim, Mirza Amnah N, El Hasnaouy Mariam, Kaffa Andreas, Lyu Yanshuang, Kafaei Golahmadi Donya, Leigh Irene M, Bergamaschi Daniele, Harwood Catherine A, Maffucci Tania", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33808215", "url": "https://glygen.org/publication/PubMed/33808215" } ] }, { "title": "Lactate Overload Inhibits Myogenic Activity in C2C12 Myotubes.", "journal": "Open life sciences", "date": "2019-01", "authors": "Oh Sarah Se-Jung, Kim Sujin, Moon Sohee, Park Dong-Ho, Kang Ju-Hee", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33817134", "url": "https://glygen.org/publication/PubMed/33817134" } ] }, { "title": "Bracovirus-mediated innexin hemichannel closure in cell disassembly.", "journal": "iScience", "date": "2021-04-23", "authors": "Chen Chang-Xu, He Hao-Juan, Cai Qiu-Chen, Zhang Wei, Kou Tian-Chao, Zhang Xue-Wen, You Shan, Chen Ya-Bin, Liu Tian, Xiao Wei, Zhu Qi-Shun, Luo Kai-Jun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33817584", "url": "https://glygen.org/publication/PubMed/33817584" } ] }, { "title": "miR-30d suppresses proliferation and invasiveness of pancreatic cancer by targeting the SOX4/PI3K-AKT axis and predicts poor outcome.", "journal": "Cell death & disease", "date": "2021-04-06", "authors": "Xu Xiaodong, Zong Ke, Wang Xinxing, Dou Dongwei, Lv Pengwei, Zhang Zhe, Li Hongwen", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33824274", "url": "https://glygen.org/publication/PubMed/33824274" } ] }, { "title": "PRMT5 Promotes EMT Through Regulating Akt Activity in Human Lung Cancer.", "journal": "Cell transplantation", "date": "2021", "authors": "Huang Jianhao, Zheng Yonghua, Zheng Xiao, Qian Bao, Yin Qi, Lu Jingjing, Lei Han", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33829865", "url": "https://glygen.org/publication/PubMed/33829865" } ] }, { "title": "SOX4 and SMARCA4 cooperatively regulate PI3k signaling through transcriptional activation of TGFBR2.", "journal": "NPJ breast cancer", "date": "2021-04-09", "authors": "Mehta Gaurav A, Angus Steven P, Khella Christen A, Tong Kevin, Khanna Pooja, Dixon Shelley A H, Verzi Michael P, Johnson Gary L, Gatza Michael L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33837205", "url": "https://glygen.org/publication/PubMed/33837205" } ] }, { "title": "NET1 promotes HCC growth and metastasis in vitro and in vivo via activating the Akt signaling pathway.", "journal": "Aging", "date": "2021", "authors": "Chen ZH, Ni QZ, Zhang XP, Ma N, Feng JK, Wang K, Li JJ, Xie D, Ma XY, Cheng SQ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33839702", "url": "https://glygen.org/publication/PubMed/33839702" } ] }, { "title": "Kaempferol induces ROS-dependent apoptosis in pancreatic cancer cells via TGM2-mediated Akt/mTOR signaling.", "journal": "BMC cancer", "date": "2021-04-12", "authors": "Wang Fengjiao, Wang Lai, Qu Chao, Chen Lianyu, Geng Yawen, Cheng Chienshan, Yu Shulin, Wang Dan, Yang Lina, Meng Zhiqiang, Chen Zhen", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33845796", "url": "https://glygen.org/publication/PubMed/33845796" } ] }, { "title": "lncRNA LOC102724169 plus cisplatin exhibit the synergistic anti-tumor effect in ovarian cancer with chronic stress.", "journal": "Molecular therapy. Nucleic acids", "date": "2021-06-04", "authors": "Zhou Xiaofang, Liu Mu, Deng Guanming, Chen Le, Sun Lijuan, Zhang Yun, Luo Chenhui, Tang Jie", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33850634", "url": "https://glygen.org/publication/PubMed/33850634" } ] }, { "title": "TRPC1 Inhibits Cell Proliferation/Invasion and Is Predictive of a Better Prognosis of Esophageal Squamous Cell Carcinoma.", "journal": "Frontiers in oncology", "date": "2021", "authors": "Zeng Yun-Zhu, Zhang Yong-Qu, Chen Jiong-Yu, Zhang Li-Ying, Gao Wen-Liang, Lin Xue-Qiong, Huang Shao-Min, Zhang Fan, Wei Xiao-Long", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33854967", "url": "https://glygen.org/publication/PubMed/33854967" } ] }, { "title": "Brain insulin signaling and cerebrovascular disease in human postmortem brain.", "journal": "Acta neuropathologica communications", "date": "2021-04-15", "authors": "Arvanitakis Zoe, Capuano Ana W, Wang Hoau-Yan, Schneider Julie A, Kapasi Alifiya, Bennett David A, Ahima Rexford S, Arnold Steven E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33858515", "url": "https://glygen.org/publication/PubMed/33858515" } ] }, { "title": "Isochromanoindolenines suppress triple-negative breast cancer cell proliferation partially via inhibiting Akt activation.", "journal": "International journal of biological sciences", "date": "2021", "authors": "Jiang Xiaoyan, Zhi Xu, Zhang Peixia, Zhou Zhongmei, Ye Jinxiang, Gao Yu, Wang Xinye, Yang Chuanyu, Chen Haijun, Liu Rong, Chen Ceshi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33867823", "url": "https://glygen.org/publication/PubMed/33867823" } ] }, { "title": "Non-Genomic AhR-Signaling Modulates the Immune Response in Endotoxin-Activated Macrophages After Activation by the Environmental Stressor BaP.", "journal": "Frontiers in immunology", "date": "2021", "authors": "Gro\u00dfkopf Henning, Walter Katharina, Karkossa Isabel, von Bergen Martin, Schubert Kristin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33868237", "url": "https://glygen.org/publication/PubMed/33868237" } ] }, { "title": "Lentivirus-mediated silencing of CNTN1 enhances gefitinib sensitivity by reversing epithelial-mesenchymal transition in lung adenocarcinoma A549 cells.", "journal": "Oncology letters", "date": "2021-06", "authors": "Hu Chun-Sheng, Huang Jiu-Hong, Yang Dong-Lin, Xu Chuan, Xu Zhi-Gang, Tan Hong-Bo, Chen Zhong-Zhu", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33868471", "url": "https://glygen.org/publication/PubMed/33868471" } ] }, { "title": "PTEN loss correlates with T cell exclusion across human cancers.", "journal": "BMC cancer", "date": "2021-04-19", "authors": "Lin Ziying, Huang Lixia, Li Shao Li, Gu Jincui, Cui Xiaoxian, Zhou Yanbin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33874915", "url": "https://glygen.org/publication/PubMed/33874915" } ] }, { "title": "Anticancer Activity of Triazolo-Thiadiazole Derivatives and Inhibition of AKT1 and AKT2 Activation.", "journal": "Pharmaceutics", "date": "2021-04-05", "authors": "Trafalis Dimitrios T, Sagredou Sofia, Dalezis Panayiotis, Voura Maria, Fountoulaki Stella, Nikoleousakos Nikolaos, Almpanakis Konstantinos, Deligiorgi Maria V, Sarli Vasiliki", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33916378", "url": "https://glygen.org/publication/PubMed/33916378" } ] }, { "title": "MAZ51 Blocks the Tumor Growth of Prostate Cancer by Inhibiting Vascular Endothelial Growth Factor Receptor 3.", "journal": "Frontiers in pharmacology", "date": "2021", "authors": "Yamamura Aya, Nayeem Md Junayed, Muramatsu Hiroyuki, Nakamura Kogenta, Sato Motohiko", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33959030", "url": "https://glygen.org/publication/PubMed/33959030" } ] }, { "title": "DHCR24 Knock-Down Induced Tau Hyperphosphorylation at Thr181, Ser199, Thr231, Ser262, Ser396 Epitopes and Inhibition of Autophagy by Overactivation of GSK3\u03b2/mTOR Signaling.", "journal": "Frontiers in aging neuroscience", "date": "2021", "authors": "Bai Xiaojing, Wu Junfeng, Zhang Mengqi, Xu Yixuan, Duan Lijie, Yao Kai, Zhang Jianfeng, Bo Jimei, Zhao Yongfei, Xu Guoxiong, Zu Hengbing", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33967735", "url": "https://glygen.org/publication/PubMed/33967735" } ] }, { "title": "An AKT/PRMT5/SREBP1 axis in lung adenocarcinoma regulates de novo lipogenesis and tumor growth.", "journal": "Cancer science", "date": "2021-08", "authors": "Liu Liu, Yan Hui, Ruan Maomei, Yang Hao, Wang Lihua, Lei Bei, Sun Xiaoyan, Chang Cheng, Huang Gang, Xie Wenhui", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "34033176", "url": "https://glygen.org/publication/PubMed/34033176" } ] }, { "title": "\u03b2-Sitosterol-D-Glucopyranoside Mimics Estrogenic Properties and Stimulates Glucose Utilization in Skeletal Muscle Cells.", "journal": "Molecules (Basel, Switzerland)", "date": "2021-05-24", "authors": "Pandey Jyotsana, Dev Kapil, Chattopadhyay Sourav, Kadan Sleman, Sharma Tanuj, Maurya Rakesh, Sanyal Sabyasachi, Siddiqi Mohammad Imran, Zaid Hilal, Tamrakar Akhilesh Kumar", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "34073781", "url": "https://glygen.org/publication/PubMed/34073781" } ] }, { "title": "Yes-Associated Protein (Yap) Is Up-Regulated in Heart Failure and Promotes Cardiac Fibroblast Proliferation.", "journal": "International journal of molecular sciences", "date": "2021-06-07", "authors": "Sharifi-Sanjani Maryam, Berman Mariah, Goncharov Dmitry, Alhamaydeh Mohammad, Avolio Theodore Guy, Baust Jeffrey, Chang Baojun, Kobir Ahasanul, Ross Mark, St Croix Claudette, Nouraie Seyed Mehdi, McTiernan Charles F, Moravec Christine S, Goncharova Elena, Al Ghouleh Imad", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "34200497", "url": "https://glygen.org/publication/PubMed/34200497" } ] }, { "title": "Phenotypic characterization of patients with activated PI3K\u03b4 syndrome 1 presenting with features of systemic lupus erythematosus.", "journal": "Genes & diseases", "date": "2021-11", "authors": "Wang Yanping, Yang Qiuyun, Chen Xuemei, Tang Wenjing, Zhou Lina, Chen Zhi, An Yunfei, Zhang Zhiyong, Tang Xuemei, Zhao Xiaodong", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "34522717", "url": "https://glygen.org/publication/PubMed/34522717" } ] }, { "title": "Src-Homology 2 Domain-Containing Phosphatase 2 in Resected EGFR Mutation-Positive Lung Adenocarcinoma.", "journal": "JTO clinical and research reports", "date": "2020-11", "authors": "Ito Masaoki, Codony-Servat Jordi, Gim\u00e9nez-Capit\u00e1n Ana, Serra-Mitjans Mireia, P\u00e9rez-Ochoa Francisco, Llige David, Chaib Imane, Rami-Porta Ram\u00f3n, Obiols Carme, Call Sergi, Iglesias Manuela, Belda-Sanchis Jos\u00e9, Tarroch-Sarasa Xavier, Karachaliou Niki, Molina-Vila Miguel Angel, Okada Morihito, Rosell Rafael", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "34589963", "url": "https://glygen.org/publication/PubMed/34589963" } ] }, { "title": "Antiproliferative activity of CD44 siRNA-PEI-PEG nanoparticles in glioblastoma: involvement of AKT signaling.", "journal": "Research in pharmaceutical sciences", "date": "2022-02", "authors": "Mahinfar Parvaneh, Mokhtarzadeh Ahad, Baradaran Behzad, Siasi Torbati Elham", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "34909046", "url": "https://glygen.org/publication/PubMed/34909046" } ] }, { "title": "PARK7/DJ-1 inhibition decreases invasion and proliferation of uveal melanoma cells.", "journal": "Tumori", "date": "2021-12-17", "authors": "Lago-Baameiro Nerea, Santiago-Varela Maria, Camino Tamara, Silva-Rodr\u00edguez Paula, Bande Manuel, Blanco-Teijeiro Maria Jose, Pardo Maria, Pi\u00f1eiro Antonio", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "34918581", "url": "https://glygen.org/publication/PubMed/34918581" } ] }, { "title": "circPTEN suppresses colorectal cancer progression through regulating PTEN/AKT pathway.", "journal": "Molecular therapy. Nucleic acids", "date": "2021-12-03", "authors": "Li Chen, Li Xu", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "34938598", "url": "https://glygen.org/publication/PubMed/34938598" } ] }, { "title": "Mevalonate pathway orchestrates insulin signaling via RAB14 geranylgeranylation-mediated phosphorylation of AKT to regulate hepatic glucose metabolism.", "journal": "Metabolism: clinical and experimental", "date": "2022", "authors": "Wang L, Zhu L, Zheng Z, Meng L, Liu H, Wang K, Chen J, Li P, Yang H", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "34995578", "url": "https://glygen.org/publication/PubMed/34995578" } ] }, { "title": "Akt Inhibition as Preconditioning Treatment to Protect Kidney Cells against Anoxia.", "journal": "International journal of molecular sciences", "date": "2021-12-23", "authors": "Melis Nicolas, Carcy Romain, Rubera Isabelle, Cougnon Marc, Duranton Christophe, Tauc Michel, Pisani Didier F", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35008578", "url": "https://glygen.org/publication/PubMed/35008578" } ] }, { "title": "Harmine reinforces the effects of regorafenib on suppressing cell proliferation and inducing apoptosis in liver cancer cells.", "journal": "Experimental and therapeutic medicine", "date": "2022-03", "authors": "Chen Zi-Yi, Li Jie, Zhu Shu-Di, Li Zhi-Di, Yu Jia-Lin, Wu Jie, Zhang Chong, Zeng Ling-Hui", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35126712", "url": "https://glygen.org/publication/PubMed/35126712" } ] }, { "title": "Hedgehog Suppresses Paclitaxel Sensitivity by Regulating Akt-Mediated Phosphorylation of Bax in EGFR Wild-Type Non-Small Cell Lung Cancer Cells.", "journal": "Frontiers in pharmacology", "date": "2022", "authors": "Tu Yun-Chieh, Yeh Wei-Chen, Yu Hsin-Hsien, Lee Yu-Cheng, Su Bor-Chyuan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35250564", "url": "https://glygen.org/publication/PubMed/35250564" } ] }, { "title": "miRNA-Dependent Regulation of AKT1 Phosphorylation.", "journal": "Cells", "date": "2022-02-26", "authors": "Frederick Mallory I, Siddika Tarana, Zhang Pengcheng, Balasuriya Nileeka, Turk Matthew A, O'Donoghue Patrick, Heinemann Ilka U", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35269443", "url": "https://glygen.org/publication/PubMed/35269443" } ] }, { "title": "Calcium/calmodulin-dependent protein kinase kinase 2 mediates pleiotropic effects of epidermal growth factor in cancer cells.", "journal": "Biochimica et biophysica acta. Molecular cell research", "date": "2022-07", "authors": "Dai Shuhang, Venturini Elisa, Yadav Saveg, Lin Xiaoxuan, Clapp Dylan, Steckiewicz Martin, Gocher-Demske Angela M, Hardie D Grahame, Edelman Arthur M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35271909", "url": "https://glygen.org/publication/PubMed/35271909" } ] }, { "title": "The cancer/testis antigen HORMAD1 mediates epithelial-mesenchymal transition to promote tumor growth and metastasis by activating the Wnt/\u03b2-catenin signaling pathway in lung cancer.", "journal": "Cell death discovery", "date": "2022-03-28", "authors": "Liu Kang, Cheng Li, Zhu Kun, Wang Jinhu, Shu Qiang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35347116", "url": "https://glygen.org/publication/PubMed/35347116" } ] }, { "title": "Interaction of TLK1 and AKTIP as a Potential Regulator of AKT Activation in Castration-Resistant Prostate Cancer Progression.", "journal": "Pathophysiology : the official journal of the International Society for Pathophysiology", "date": "2021-07-20", "authors": "Khalil Md Imtiaz, Madere Christopher, Ghosh Ishita, Adam Rosalyn M, De Benedetti Arrigo", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35366279", "url": "https://glygen.org/publication/PubMed/35366279" } ] }, { "title": "Evidence for a PI3-kinase independent pathway in the regulation of Rap1b activation downstream of the P2Y12 receptor in platelets.", "journal": "Platelets", "date": "2022-11-17", "authors": "Dangelmaier Carol, Kunapuli Satya P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35514261", "url": "https://glygen.org/publication/PubMed/35514261" } ] }, { "title": "Insulin-like growth factor 2 promotes osteoclastogenesis increasing inflammatory cytokine levels under hypoxia.", "journal": "Journal of pharmacological sciences", "date": "2022", "authors": "Kondo T, Aoki H, Otsuka Y, Kawaguchi Y, Waguri-Nagaya Y, Aoyama M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35641033", "url": "https://glygen.org/publication/PubMed/35641033" } ] }, { "title": "Ginsenoside Rb1 inhibits oxidative stress-induced ovarian granulosa cell injury through Akt-FoxO1 interaction.", "journal": "Science China. Life sciences", "date": "2022-11", "authors": "Zhou Ping, Deng Feng, Yang Zi, Cao Canhui, Zhao Hongcui, Liu Fenting, Zhong Ke, Fu Lin, Peng Tianliu, Sun Di, Liu Hui, Li Rong, Yu Yang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35661967", "url": "https://glygen.org/publication/PubMed/35661967" } ] }, { "title": "Combination of mTOR inhibitor PP242 and AMPK activator metformin exerts enhanced inhibitory effects on colorectal carcinoma cells in\u00a0vitro by blocking multiple kinase pathways.", "journal": "Journal of chemotherapy (Florence, Italy)", "date": "2022-06-22", "authors": "Sun Cuicui, Yang Xiaoyan, Jin Zhi, Gao Zuhua", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35731713", "url": "https://glygen.org/publication/PubMed/35731713" } ] }, { "title": "Loquat Leaf Extract Enhances Muscle Contraction-Induced Activation of Protein Synthesis Signaling in Rat Skeletal Muscle.", "journal": "Evidence-based complementary and alternative medicine : eCAM", "date": "2022", "authors": "Hung Yung-Li, Kosugi Riki, Natsume Toshiharu, Machida Shuichi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35783523", "url": "https://glygen.org/publication/PubMed/35783523" } ] }, { "title": "AKT phosphorylation as a predictive biomarker for PI3K/mTOR dual inhibition-induced proteolytic cleavage of mTOR companion proteins in small cell lung cancer.", "journal": "Cell & bioscience", "date": "2022-08-02", "authors": "Hung Ming-Chun, Wang Wan-Ping, Chi Ya-Hui", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35918763", "url": "https://glygen.org/publication/PubMed/35918763" } ] }, { "title": "Near-infrared II photobiomodulation augments nitric oxide bioavailability via phosphorylation of endothelial nitric oxide synthase.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2022-09", "authors": "Yokomizo Shinya, Roessing Malte, Morita Atsuyo, Kopp Timo, Ogawa Emiyu, Katagiri Wataru, Feil Susanne, Huang Paul L, Atochin Dmitriy N, Kashiwagi Satoshi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35929438", "url": "https://glygen.org/publication/PubMed/35929438" } ] }, { "title": "Piezo1 Channel Activation Reverses Pulmonary Artery Vasoconstriction in an Early Rat Model of Pulmonary Hypertension: The Role of Ca2+ Influx and Akt-eNOS Pathway.", "journal": "Cells", "date": "2022-07-30", "authors": "Porto Ribeiro Thais, Barbeau Sol\u00e8ne, Baudrimont Isabelle, Vacher Pierre, Freund-Michel V\u00e9ronique, Cardouat Guillaume, Berger Patrick, Guibert Christelle, Ducret Thomas, Quignard Jean-Fran\u00e7ois", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35954193", "url": "https://glygen.org/publication/PubMed/35954193" } ] }, { "title": "S-palmitoylation of PCSK9 induces sorafenib resistance in liver cancer by activating the PI3K/AKT pathway.", "journal": "Cell reports", "date": "2022-08-16", "authors": "Sun Yan, Zhang Huan, Meng Junpeng, Guo Feng, Ren Dianyun, Wu Heshui, Jin Xin", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35977495", "url": "https://glygen.org/publication/PubMed/35977495" } ] }, { "title": "The RNA-binding protein AUF1 facilitates Akt phosphorylation at the membrane.", "journal": "The Journal of biological chemistry", "date": "2022-10", "authors": "Li Mei-Ling, Ragupathi Aparna, Patel Nikhil, Hernandez Tatiana, Magsino Jedrick, Werlen Guy, Brewer Gary, Jacinto Estela", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36041631", "url": "https://glygen.org/publication/PubMed/36041631" } ] }, { "title": "CircSEMA4B inhibits the progression of breast cancer by encoding a novel protein SEMA4B-211aa and regulating AKT phosphorylation.", "journal": "Cell death & disease", "date": "2022", "authors": "Wang X, Jian W, Luo Q, Fang L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36115854", "url": "https://glygen.org/publication/PubMed/36115854" } ] }, { "title": "Identification of NHLRC1 as a Novel AKT Activator from a Lung Cancer Epigenome-Wide Association Study (EWAS).", "journal": "International journal of molecular sciences", "date": "2022-09-14", "authors": "Faltus Christian, Lahnsteiner Angelika, Barrdahl Myrto, Assenov Yassen, H\u00fcsing Anika, Bogatyrova Olga, Laplana Marina, Johnson Theron, Muley Thomas, Meister Michael, Warth Arne, Thomas Michael, Plass Christoph, Kaaks Rudolf, Risch Angela", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36142605", "url": "https://glygen.org/publication/PubMed/36142605" } ] }, { "title": "Euonymine inhibits in-stent restenosis through enhancing contractile phenotype of vascular smooth muscle cells via modulating the PTEN/AKT/mTOR signaling pathway.", "journal": "Phytomedicine : international journal of phytotherapy and phytopharmacology", "date": "2022-12", "authors": "Zhang Li, Tao YiTing, Yang RenHua, Hu Qin, Jia Jia, Yu MingYang, He Bo, Shen ZhiQiang, Qin HongTao, Yu Zhuo, Chen Peng", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36174454", "url": "https://glygen.org/publication/PubMed/36174454" } ] }, { "title": "CRISPR-based kinome-screening revealed MINK1 as a druggable player to rewire 5FU-resistance in OSCC through AKT/MDM2/p53 axis.", "journal": "Oncogene", "date": "2022-11", "authors": "Mohanty Sibasish, Mohapatra Pallavi, Shriwas Omprakash, Ansari Shamima Azma, Priyadarshini Manashi, Priyadarsini Swatismita, Rath Rachna, Sultania Mahesh, Das Majumdar Saroj Kumar, Swain Rajeeb K, Dash Rupesh", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36182968", "url": "https://glygen.org/publication/PubMed/36182968" } ] }, { "title": "Silibinin suppresses TGF\u03b22-induced lens epithelial cell migration and epithelial-mesenchymal transition.", "journal": "Journal of biosciences", "date": "2022", "authors": "Malaviya Pooja B, Shukal Dhaval K, Sharma Tusha, Vasavada Abhay R, Sr Kaid Johar", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36222151", "url": "https://glygen.org/publication/PubMed/36222151" } ] }, { "title": "Suramin enhances chondrogenic properties by regulating the p67phox/PI3K/AKT/SOX9 signalling pathway.", "journal": "Bone & joint research", "date": "2022-10", "authors": "Liu Zi-Miao, Shen Po-Chih, Lu Cheng-Chang, Chou Shih-Hsiang, Tien Yin-Chun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36222195", "url": "https://glygen.org/publication/PubMed/36222195" } ] }, { "title": "The Significance of p-AKT1 as a Prognostic Marker and Therapeutic Target in Patients With Hormone Receptor-Positive and Human Epidermal Growth Factor Receptor-2-Positive Early Breast Cancer.", "journal": "Journal of breast cancer", "date": "2022-10", "authors": "Kim Ji Yea, Park Chan Sub, Jang Se-Kyeong, Seol Hyesil, Seong Min-Ki, Noh Woo Chul, Park In-Chul, Kim Hyun-Ah", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36314765", "url": "https://glygen.org/publication/PubMed/36314765" } ] }, { "title": "Helicobacter pylori promotes epithelial-to-mesenchymal transition by downregulating CK2\u03b2 in gastric cancer cells.", "journal": "Biochimica et biophysica acta. Molecular basis of disease", "date": "2022-10-29", "authors": "Lee So Dam, Jeong Haengdueng, Hwang Bo Ram, Yu Byeong Min, Cho Yejin, Nam Ki Teak, Kim Hyunki, Lee Yong Chan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36404440", "url": "https://glygen.org/publication/PubMed/36404440" } ] }, { "title": "Vincosamide Has a Function for Inhibiting Malignant Behaviors of Hepatocellular Carcinoma Cells.", "journal": "World journal of oncology", "date": "2022-10", "authors": "Zhu Ming Yue, Gong Zhi Sun, Feng Hai Peng, Zhang Qiu Yue, Liu Kun, Lin Bo, Zhang Min Ni, Lin Hai Feng, Li Meng Sen", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36406198", "url": "https://glygen.org/publication/PubMed/36406198" } ] }, { "title": "N6-methyladenosine plays a dual role in arsenic carcinogenesis by temporal-specific control of core target AKT1.", "journal": "Journal of hazardous materials", "date": "2022-11-24", "authors": "Zhao Tianhe, Sun Donglei, Xiong Wenxiao, Man Jin, Zhang Qian, Zhao Manyu, Zhang Zunzhen", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36444808", "url": "https://glygen.org/publication/PubMed/36444808" } ] }, { "title": "Characterization of a 3-phosphoinositide-dependent protein kinase which phosphorylates and activates protein kinase Balpha.", "journal": "Current biology : CB", "date": "1997", "authors": "Alessi DR, James SR, Downes CP, Holmes AB, Gaffney PR, Reese CB, Cohen P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "9094314", "url": "https://glygen.org/publication/PubMed/9094314" } ] }, { "title": "mu-Opioid receptor activates signaling pathways implicated in cell survival and translational control.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Polakiewicz RD, Schieferl SM, Gingras AC, Sonenberg N, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "9722592", "url": "https://glygen.org/publication/PubMed/9722592" } ] }, { "title": "Adenoviral transgene expression of MMAC/PTEN in human glioma cells inhibits Akt activation and induces anoikis.", "journal": "Cancer research", "date": "1998-12-01", "authors": "Davies M A, Lu Y, Sano T, Fang X, Tang P, LaPushin R, Koul D, Bookstein R, Stokoe D, Yung W K, Mills G B, Steck P A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "9850049", "url": "https://glygen.org/publication/PubMed/9850049" } ] }, { "title": "Inactivation and dephosphorylation of protein kinase Balpha (PKBalpha) promoted by hyperosmotic stress.", "journal": "The EMBO journal", "date": "1998", "authors": "Meier R, Thelen M, Hemmings BA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "9857186", "url": "https://glygen.org/publication/PubMed/9857186" } ] }, { "title": "LGI1, a putative tumor metastasis suppressor gene, controls in vitro invasiveness and expression of matrix metalloproteinases in glioma cells through the ERK1/2 pathway.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kunapuli P, Kasyapa CS, Hawthorn L, Cowell JK", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15047712", "url": "https://glygen.org/publication/PubMed/15047712" } ] }, { "title": "Constitutive activation of Akt by Flt3 internal tandem duplications is necessary for increased survival, proliferation, and myeloid transformation.", "journal": "Cancer research", "date": "2005", "authors": "Brandts CH, Sargin B, Rode M, Biermann C, Lindtner B, Schwable J, Buerger H, Muller-Tidow C, Choudhary C, McMahon M, Berdel WE, Serve H", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "Reactome", "id": "R-HSA-9607240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9607240" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16266983", "url": "https://glygen.org/publication/PubMed/16266983" } ] }, { "title": "Ack1 mediated AKT/PKB tyrosine 176 phosphorylation regulates its activation.", "journal": "PloS one", "date": "2010", "authors": "Mahajan K, Coppola D, Challa S, Fang B, Chen YA, Zhu W, Lopez AS, Koomen J, Engelman RW, Rivera C, Muraoka-Cook RS, Cheng JQ, Schonbrunn E, Sebti SM, Earp HS, Mahajan NP", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20333297", "url": "https://glygen.org/publication/PubMed/20333297" } ] }, { "title": "A novel human dynactin-associated protein, dynAP, promotes activation of Akt, and ergosterol-related compounds induce dynAP-dependent apoptosis of human cancer cells.", "journal": "Molecular cancer therapeutics", "date": "2010", "authors": "Kunoh T, Noda T, Koseki K, Sekigawa M, Takagi M, Shin-ya K, Goshima N, Iemura S, Natsume T, Wada S, Mukai Y, Ohta S, Sasaki R, Mizukami T", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20978158", "url": "https://glygen.org/publication/PubMed/20978158" } ] }, { "title": "PIKE (phosphatidylinositol 3-kinase enhancer)-A GTPase stimulates Akt activity and mediates cellular invasion.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Ahn JY, Rong R, Kroll TG, Van Meir EG, Snyder SH, Ye K", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14761976", "url": "https://glygen.org/publication/PubMed/14761976" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18728220", "url": "https://glygen.org/publication/PubMed/18728220", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32830957", "url": "https://glygen.org/publication/PubMed/32830957", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32892442", "url": "https://glygen.org/publication/PubMed/32892442", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26412745", "url": "https://glygen.org/publication/PubMed/26412745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16684529", "url": "https://glygen.org/publication/PubMed/16684529", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30100348", "url": "https://glygen.org/publication/PubMed/30100348", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22564745", "url": "https://glygen.org/publication/PubMed/22564745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20668475", "url": "https://glygen.org/publication/PubMed/20668475", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29706631", "url": "https://glygen.org/publication/PubMed/29706631", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22687243", "url": "https://glygen.org/publication/PubMed/22687243", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://oglcnac.org/atlas/detail/P31749", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "26333304", "url": "https://glygen.org/publication/PubMed/26333304", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "34941261", "url": "https://glygen.org/publication/PubMed/34941261", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12244301", "url": "https://glygen.org/publication/PubMed/12244301", "database": "PubMed", "categories": [ "Other" ] }, { "id": "8978681", "url": "https://glygen.org/publication/PubMed/8978681", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "10226025", "url": "https://glygen.org/publication/PubMed/10226025", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10874027", "url": "https://glygen.org/publication/PubMed/10874027", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19686698", "url": "https://glygen.org/publication/PubMed/19686698", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17634416", "url": "https://glygen.org/publication/PubMed/17634416", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25719244", "url": "https://glygen.org/publication/PubMed/25719244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15718470", "url": "https://glygen.org/publication/PubMed/15718470", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21157483", "url": "https://glygen.org/publication/PubMed/21157483", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21592956", "url": "https://glygen.org/publication/PubMed/21592956", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15678105", "url": "https://glygen.org/publication/PubMed/15678105", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19144640", "url": "https://glygen.org/publication/PubMed/19144640", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18439899", "url": "https://glygen.org/publication/PubMed/18439899", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25678401", "url": "https://glygen.org/publication/PubMed/25678401", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18054038", "url": "https://glygen.org/publication/PubMed/18054038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9736715", "url": "https://glygen.org/publication/PubMed/9736715", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11313365", "url": "https://glygen.org/publication/PubMed/11313365", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23840605", "url": "https://glygen.org/publication/PubMed/23840605", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21464307", "url": "https://glygen.org/publication/PubMed/21464307", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11278835", "url": "https://glygen.org/publication/PubMed/11278835", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21658387", "url": "https://glygen.org/publication/PubMed/21658387", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24916379", "url": "https://glygen.org/publication/PubMed/24916379", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16098514", "url": "https://glygen.org/publication/PubMed/16098514", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21996732", "url": "https://glygen.org/publication/PubMed/21996732", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21106850", "url": "https://glygen.org/publication/PubMed/21106850", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21329883", "url": "https://glygen.org/publication/PubMed/21329883", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11445557", "url": "https://glygen.org/publication/PubMed/11445557", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11723139", "url": "https://glygen.org/publication/PubMed/11723139", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12149249", "url": "https://glygen.org/publication/PubMed/12149249", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12176337", "url": "https://glygen.org/publication/PubMed/12176337", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14500673", "url": "https://glygen.org/publication/PubMed/14500673", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16253990", "url": "https://glygen.org/publication/PubMed/16253990", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16603397", "url": "https://glygen.org/publication/PubMed/16603397", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16917505", "url": "https://glygen.org/publication/PubMed/16917505", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16260598", "url": "https://glygen.org/publication/PubMed/16260598", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://www.ebi.ac.uk/intact/interactors/id:P31749*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "18650932", "url": "https://glygen.org/publication/PubMed/18650932", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16437163", "url": "https://glygen.org/publication/PubMed/16437163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21965657", "url": "https://glygen.org/publication/PubMed/21965657", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P31749", "database": "PRO", "categories": [ "Other" ] }, { "id": "16549426", "url": "https://glygen.org/publication/PubMed/16549426", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10226029", "url": "https://glygen.org/publication/PubMed/10226029", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10477751", "url": "https://glygen.org/publication/PubMed/10477751", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10488096", "url": "https://glygen.org/publication/PubMed/10488096", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10579725", "url": "https://glygen.org/publication/PubMed/10579725", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10601235", "url": "https://glygen.org/publication/PubMed/10601235", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10716737", "url": "https://glygen.org/publication/PubMed/10716737", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10722653", "url": "https://glygen.org/publication/PubMed/10722653", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10746662", "url": "https://glygen.org/publication/PubMed/10746662", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10825497", "url": "https://glygen.org/publication/PubMed/10825497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10827191", "url": "https://glygen.org/publication/PubMed/10827191", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10898514", "url": "https://glygen.org/publication/PubMed/10898514", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10908564", "url": "https://glygen.org/publication/PubMed/10908564", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10949937", "url": "https://glygen.org/publication/PubMed/10949937", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10958690", "url": "https://glygen.org/publication/PubMed/10958690", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10986289", "url": "https://glygen.org/publication/PubMed/10986289", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10994851", "url": "https://glygen.org/publication/PubMed/10994851", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11003625", "url": "https://glygen.org/publication/PubMed/11003625", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11007949", "url": "https://glygen.org/publication/PubMed/11007949", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11027222", "url": "https://glygen.org/publication/PubMed/11027222", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11029403", "url": "https://glygen.org/publication/PubMed/11029403", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11042204", "url": "https://glygen.org/publication/PubMed/11042204", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11162573", "url": "https://glygen.org/publication/PubMed/11162573", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11162641", "url": "https://glygen.org/publication/PubMed/11162641", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11162904", "url": "https://glygen.org/publication/PubMed/11162904", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11208609", "url": "https://glygen.org/publication/PubMed/11208609", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11278269", "url": "https://glygen.org/publication/PubMed/11278269", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11289110", "url": "https://glygen.org/publication/PubMed/11289110", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11311245", "url": "https://glygen.org/publication/PubMed/11311245", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11323521", "url": "https://glygen.org/publication/PubMed/11323521", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11340092", "url": "https://glygen.org/publication/PubMed/11340092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11350959", "url": "https://glygen.org/publication/PubMed/11350959", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11358816", "url": "https://glygen.org/publication/PubMed/11358816", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11359783", "url": "https://glygen.org/publication/PubMed/11359783", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11389054", "url": "https://glygen.org/publication/PubMed/11389054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11409731", "url": "https://glygen.org/publication/PubMed/11409731", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11602740", "url": "https://glygen.org/publication/PubMed/11602740", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11679435", "url": "https://glygen.org/publication/PubMed/11679435", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11711890", "url": "https://glygen.org/publication/PubMed/11711890", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11731021", "url": "https://glygen.org/publication/PubMed/11731021", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11731414", "url": "https://glygen.org/publication/PubMed/11731414", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11752635", "url": "https://glygen.org/publication/PubMed/11752635", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11756242", "url": "https://glygen.org/publication/PubMed/11756242", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11777539", "url": "https://glygen.org/publication/PubMed/11777539", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11818508", "url": "https://glygen.org/publication/PubMed/11818508", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11825911", "url": "https://glygen.org/publication/PubMed/11825911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11902114", "url": "https://glygen.org/publication/PubMed/11902114", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11960368", "url": "https://glygen.org/publication/PubMed/11960368", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12000750", "url": "https://glygen.org/publication/PubMed/12000750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12000752", "url": "https://glygen.org/publication/PubMed/12000752", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12034358", "url": "https://glygen.org/publication/PubMed/12034358", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12060641", "url": "https://glygen.org/publication/PubMed/12060641", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12070228", "url": "https://glygen.org/publication/PubMed/12070228", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12089369", "url": "https://glygen.org/publication/PubMed/12089369", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12105188", "url": "https://glygen.org/publication/PubMed/12105188", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12115344", "url": "https://glygen.org/publication/PubMed/12115344", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12164932", "url": "https://glygen.org/publication/PubMed/12164932", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12171932", "url": "https://glygen.org/publication/PubMed/12171932", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12181443", "url": "https://glygen.org/publication/PubMed/12181443", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12198650", "url": "https://glygen.org/publication/PubMed/12198650", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12208782", "url": "https://glygen.org/publication/PubMed/12208782", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12210737", "url": "https://glygen.org/publication/PubMed/12210737", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12351701", "url": "https://glygen.org/publication/PubMed/12351701", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12370495", "url": "https://glygen.org/publication/PubMed/12370495", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12373610", "url": "https://glygen.org/publication/PubMed/12373610", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12401518", "url": "https://glygen.org/publication/PubMed/12401518", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12429987", "url": "https://glygen.org/publication/PubMed/12429987", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12438236", "url": "https://glygen.org/publication/PubMed/12438236", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12446602", "url": "https://glygen.org/publication/PubMed/12446602", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12466352", "url": "https://glygen.org/publication/PubMed/12466352", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12504922", "url": "https://glygen.org/publication/PubMed/12504922", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12556562", "url": "https://glygen.org/publication/PubMed/12556562", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12606948", "url": "https://glygen.org/publication/PubMed/12606948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12644590", "url": "https://glygen.org/publication/PubMed/12644590", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12644839", "url": "https://glygen.org/publication/PubMed/12644839", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12649200", "url": "https://glygen.org/publication/PubMed/12649200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12654898", "url": "https://glygen.org/publication/PubMed/12654898", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12657951", "url": "https://glygen.org/publication/PubMed/12657951", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12682057", "url": "https://glygen.org/publication/PubMed/12682057", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12686550", "url": "https://glygen.org/publication/PubMed/12686550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12763754", "url": "https://glygen.org/publication/PubMed/12763754", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12801607", "url": "https://glygen.org/publication/PubMed/12801607", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12835332", "url": "https://glygen.org/publication/PubMed/12835332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12838322", "url": "https://glygen.org/publication/PubMed/12838322", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12839924", "url": "https://glygen.org/publication/PubMed/12839924", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12869408", "url": "https://glygen.org/publication/PubMed/12869408", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12876303", "url": "https://glygen.org/publication/PubMed/12876303", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12939297", "url": "https://glygen.org/publication/PubMed/12939297", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14550274", "url": "https://glygen.org/publication/PubMed/14550274", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14551191", "url": "https://glygen.org/publication/PubMed/14551191", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14568991", "url": "https://glygen.org/publication/PubMed/14568991", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14603261", "url": "https://glygen.org/publication/PubMed/14603261", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14660586", "url": "https://glygen.org/publication/PubMed/14660586", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14668339", "url": "https://glygen.org/publication/PubMed/14668339", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14707121", "url": "https://glygen.org/publication/PubMed/14707121", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14727512", "url": "https://glygen.org/publication/PubMed/14727512", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14747535", "url": "https://glygen.org/publication/PubMed/14747535", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14767876", "url": "https://glygen.org/publication/PubMed/14767876", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14769856", "url": "https://glygen.org/publication/PubMed/14769856", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14971662", "url": "https://glygen.org/publication/PubMed/14971662", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14971663", "url": "https://glygen.org/publication/PubMed/14971663", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14981538", "url": "https://glygen.org/publication/PubMed/14981538", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14990993", "url": "https://glygen.org/publication/PubMed/14990993", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15010337", "url": "https://glygen.org/publication/PubMed/15010337", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15026145", "url": "https://glygen.org/publication/PubMed/15026145", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15044083", "url": "https://glygen.org/publication/PubMed/15044083", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15047168", "url": "https://glygen.org/publication/PubMed/15047168", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15048882", "url": "https://glygen.org/publication/PubMed/15048882", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15050414", "url": "https://glygen.org/publication/PubMed/15050414", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15084475", "url": "https://glygen.org/publication/PubMed/15084475", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15122336", "url": "https://glygen.org/publication/PubMed/15122336", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15138635", "url": "https://glygen.org/publication/PubMed/15138635", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15150572", "url": "https://glygen.org/publication/PubMed/15150572", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15157674", "url": "https://glygen.org/publication/PubMed/15157674", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15176055", "url": "https://glygen.org/publication/PubMed/15176055", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15183529", "url": "https://glygen.org/publication/PubMed/15183529", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15289328", "url": "https://glygen.org/publication/PubMed/15289328", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15289499", "url": "https://glygen.org/publication/PubMed/15289499", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15309026", "url": "https://glygen.org/publication/PubMed/15309026", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15319269", "url": "https://glygen.org/publication/PubMed/15319269", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15327518", "url": "https://glygen.org/publication/PubMed/15327518", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15339992", "url": "https://glygen.org/publication/PubMed/15339992", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15353558", "url": "https://glygen.org/publication/PubMed/15353558", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15364809", "url": "https://glygen.org/publication/PubMed/15364809", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15364915", "url": "https://glygen.org/publication/PubMed/15364915", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15372623", "url": "https://glygen.org/publication/PubMed/15372623", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15456405", "url": "https://glygen.org/publication/PubMed/15456405", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15475446", "url": "https://glygen.org/publication/PubMed/15475446", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15489214", "url": "https://glygen.org/publication/PubMed/15489214", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15505622", "url": "https://glygen.org/publication/PubMed/15505622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15546863", "url": "https://glygen.org/publication/PubMed/15546863", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15574783", "url": "https://glygen.org/publication/PubMed/15574783", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15657900", "url": "https://glygen.org/publication/PubMed/15657900", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15671247", "url": "https://glygen.org/publication/PubMed/15671247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15684397", "url": "https://glygen.org/publication/PubMed/15684397", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15706421", "url": "https://glygen.org/publication/PubMed/15706421", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15733940", "url": "https://glygen.org/publication/PubMed/15733940", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15738003", "url": "https://glygen.org/publication/PubMed/15738003", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15755769", "url": "https://glygen.org/publication/PubMed/15755769", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15782140", "url": "https://glygen.org/publication/PubMed/15782140", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15805282", "url": "https://glygen.org/publication/PubMed/15805282", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15805287", "url": "https://glygen.org/publication/PubMed/15805287", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15862750", "url": "https://glygen.org/publication/PubMed/15862750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15867245", "url": "https://glygen.org/publication/PubMed/15867245", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15867390", "url": "https://glygen.org/publication/PubMed/15867390", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15870708", "url": "https://glygen.org/publication/PubMed/15870708", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15870831", "url": "https://glygen.org/publication/PubMed/15870831", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15919790", "url": "https://glygen.org/publication/PubMed/15919790", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15942714", "url": "https://glygen.org/publication/PubMed/15942714", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15943787", "url": "https://glygen.org/publication/PubMed/15943787", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15944217", "url": "https://glygen.org/publication/PubMed/15944217", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15987444", "url": "https://glygen.org/publication/PubMed/15987444", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15998799", "url": "https://glygen.org/publication/PubMed/15998799", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16009706", "url": "https://glygen.org/publication/PubMed/16009706", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16009726", "url": "https://glygen.org/publication/PubMed/16009726", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16018579", "url": "https://glygen.org/publication/PubMed/16018579", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16049961", "url": "https://glygen.org/publication/PubMed/16049961", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16100524", "url": "https://glygen.org/publication/PubMed/16100524", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16133873", "url": "https://glygen.org/publication/PubMed/16133873", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16166302", "url": "https://glygen.org/publication/PubMed/16166302", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16168102", "url": "https://glygen.org/publication/PubMed/16168102", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16168126", "url": "https://glygen.org/publication/PubMed/16168126", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16169930", "url": "https://glygen.org/publication/PubMed/16169930", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16172130", "url": "https://glygen.org/publication/PubMed/16172130", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16182322", "url": "https://glygen.org/publication/PubMed/16182322", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16195476", "url": "https://glygen.org/publication/PubMed/16195476", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16210322", "url": "https://glygen.org/publication/PubMed/16210322", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16221682", "url": "https://glygen.org/publication/PubMed/16221682", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16224792", "url": "https://glygen.org/publication/PubMed/16224792", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16275989", "url": "https://glygen.org/publication/PubMed/16275989", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16287065", "url": "https://glygen.org/publication/PubMed/16287065", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16288304", "url": "https://glygen.org/publication/PubMed/16288304", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16299382", "url": "https://glygen.org/publication/PubMed/16299382", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16306364", "url": "https://glygen.org/publication/PubMed/16306364", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16322209", "url": "https://glygen.org/publication/PubMed/16322209", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16330671", "url": "https://glygen.org/publication/PubMed/16330671", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16341040", "url": "https://glygen.org/publication/PubMed/16341040", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16397250", "url": "https://glygen.org/publication/PubMed/16397250", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16475687", "url": "https://glygen.org/publication/PubMed/16475687", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16497409", "url": "https://glygen.org/publication/PubMed/16497409", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16505097", "url": "https://glygen.org/publication/PubMed/16505097", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16531397", "url": "https://glygen.org/publication/PubMed/16531397", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16537601", "url": "https://glygen.org/publication/PubMed/16537601", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16543232", "url": "https://glygen.org/publication/PubMed/16543232", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16545678", "url": "https://glygen.org/publication/PubMed/16545678", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16546978", "url": "https://glygen.org/publication/PubMed/16546978", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16546979", "url": "https://glygen.org/publication/PubMed/16546979", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16567092", "url": "https://glygen.org/publication/PubMed/16567092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16585200", "url": "https://glygen.org/publication/PubMed/16585200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16619521", "url": "https://glygen.org/publication/PubMed/16619521", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16636132", "url": "https://glygen.org/publication/PubMed/16636132", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16636147", "url": "https://glygen.org/publication/PubMed/16636147", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16722146", "url": "https://glygen.org/publication/PubMed/16722146", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16731842", "url": "https://glygen.org/publication/PubMed/16731842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16759849", "url": "https://glygen.org/publication/PubMed/16759849", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16763108", "url": "https://glygen.org/publication/PubMed/16763108", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16785234", "url": "https://glygen.org/publication/PubMed/16785234", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16785763", "url": "https://glygen.org/publication/PubMed/16785763", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16886599", "url": "https://glygen.org/publication/PubMed/16886599", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16895802", "url": "https://glygen.org/publication/PubMed/16895802", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16940331", "url": "https://glygen.org/publication/PubMed/16940331", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16942862", "url": "https://glygen.org/publication/PubMed/16942862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16951134", "url": "https://glygen.org/publication/PubMed/16951134", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16962287", "url": "https://glygen.org/publication/PubMed/16962287", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16962653", "url": "https://glygen.org/publication/PubMed/16962653", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16987028", "url": "https://glygen.org/publication/PubMed/16987028", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16987514", "url": "https://glygen.org/publication/PubMed/16987514", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17003457", "url": "https://glygen.org/publication/PubMed/17003457", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17007924", "url": "https://glygen.org/publication/PubMed/17007924", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17013611", "url": "https://glygen.org/publication/PubMed/17013611", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17016648", "url": "https://glygen.org/publication/PubMed/17016648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17028898", "url": "https://glygen.org/publication/PubMed/17028898", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17041888", "url": "https://glygen.org/publication/PubMed/17041888", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17062729", "url": "https://glygen.org/publication/PubMed/17062729", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17077344", "url": "https://glygen.org/publication/PubMed/17077344", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17096325", "url": "https://glygen.org/publication/PubMed/17096325", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17106060", "url": "https://glygen.org/publication/PubMed/17106060", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17156483", "url": "https://glygen.org/publication/PubMed/17156483", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17158952", "url": "https://glygen.org/publication/PubMed/17158952", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17178855", "url": "https://glygen.org/publication/PubMed/17178855", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17196679", "url": "https://glygen.org/publication/PubMed/17196679", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17196933", "url": "https://glygen.org/publication/PubMed/17196933", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17234785", "url": "https://glygen.org/publication/PubMed/17234785", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17237292", "url": "https://glygen.org/publication/PubMed/17237292", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17259384", "url": "https://glygen.org/publication/PubMed/17259384", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17300726", "url": "https://glygen.org/publication/PubMed/17300726", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17308356", "url": "https://glygen.org/publication/PubMed/17308356", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17309805", "url": "https://glygen.org/publication/PubMed/17309805", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17334390", "url": "https://glygen.org/publication/PubMed/17334390", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17339610", "url": "https://glygen.org/publication/PubMed/17339610", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17342093", "url": "https://glygen.org/publication/PubMed/17342093", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17342096", "url": "https://glygen.org/publication/PubMed/17342096", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17342203", "url": "https://glygen.org/publication/PubMed/17342203", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17372251", "url": "https://glygen.org/publication/PubMed/17372251", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17400190", "url": "https://glygen.org/publication/PubMed/17400190", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17407381", "url": "https://glygen.org/publication/PubMed/17407381", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17442374", "url": "https://glygen.org/publication/PubMed/17442374", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17468516", "url": "https://glygen.org/publication/PubMed/17468516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17545609", "url": "https://glygen.org/publication/PubMed/17545609", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17548608", "url": "https://glygen.org/publication/PubMed/17548608", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17549359", "url": "https://glygen.org/publication/PubMed/17549359", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17556533", "url": "https://glygen.org/publication/PubMed/17556533", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17562705", "url": "https://glygen.org/publication/PubMed/17562705", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17594810", "url": "https://glygen.org/publication/PubMed/17594810", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17615157", "url": "https://glygen.org/publication/PubMed/17615157", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17622239", "url": "https://glygen.org/publication/PubMed/17622239", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17623090", "url": "https://glygen.org/publication/PubMed/17623090", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17640984", "url": "https://glygen.org/publication/PubMed/17640984", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17646396", "url": "https://glygen.org/publication/PubMed/17646396", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17646428", "url": "https://glygen.org/publication/PubMed/17646428", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17652589", "url": "https://glygen.org/publication/PubMed/17652589", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17684018", "url": "https://glygen.org/publication/PubMed/17684018", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17684102", "url": "https://glygen.org/publication/PubMed/17684102", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17707343", "url": "https://glygen.org/publication/PubMed/17707343", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17720802", "url": "https://glygen.org/publication/PubMed/17720802", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17721885", "url": "https://glygen.org/publication/PubMed/17721885", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17721914", "url": "https://glygen.org/publication/PubMed/17721914", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17724478", "url": "https://glygen.org/publication/PubMed/17724478", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17822324", "url": "https://glygen.org/publication/PubMed/17822324", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17848732", "url": "https://glygen.org/publication/PubMed/17848732", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17848913", "url": "https://glygen.org/publication/PubMed/17848913", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17875968", "url": "https://glygen.org/publication/PubMed/17875968", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17883592", "url": "https://glygen.org/publication/PubMed/17883592", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17910952", "url": "https://glygen.org/publication/PubMed/17910952", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17922342", "url": "https://glygen.org/publication/PubMed/17922342", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17923279", "url": "https://glygen.org/publication/PubMed/17923279", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17935137", "url": "https://glygen.org/publication/PubMed/17935137", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17941081", "url": "https://glygen.org/publication/PubMed/17941081", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17960559", "url": "https://glygen.org/publication/PubMed/17960559", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17961125", "url": "https://glygen.org/publication/PubMed/17961125", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17967879", "url": "https://glygen.org/publication/PubMed/17967879", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17971124", "url": "https://glygen.org/publication/PubMed/17971124", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17974987", "url": "https://glygen.org/publication/PubMed/17974987", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17977950", "url": "https://glygen.org/publication/PubMed/17977950", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17983605", "url": "https://glygen.org/publication/PubMed/17983605", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18006275", "url": "https://glygen.org/publication/PubMed/18006275", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18006659", "url": "https://glygen.org/publication/PubMed/18006659", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18041091", "url": "https://glygen.org/publication/PubMed/18041091", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18059161", "url": "https://glygen.org/publication/PubMed/18059161", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18068336", "url": "https://glygen.org/publication/PubMed/18068336", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18159236", "url": "https://glygen.org/publication/PubMed/18159236", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18197291", "url": "https://glygen.org/publication/PubMed/18197291", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18199958", "url": "https://glygen.org/publication/PubMed/18199958", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18204829", "url": "https://glygen.org/publication/PubMed/18204829", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18215105", "url": "https://glygen.org/publication/PubMed/18215105", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18235224", "url": "https://glygen.org/publication/PubMed/18235224", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18256540", "url": "https://glygen.org/publication/PubMed/18256540", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18261725", "url": "https://glygen.org/publication/PubMed/18261725", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18262492", "url": "https://glygen.org/publication/PubMed/18262492", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18305032", "url": "https://glygen.org/publication/PubMed/18305032", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18321849", "url": "https://glygen.org/publication/PubMed/18321849", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18332867", "url": "https://glygen.org/publication/PubMed/18332867", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18339839", "url": "https://glygen.org/publication/PubMed/18339839", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18349842", "url": "https://glygen.org/publication/PubMed/18349842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18356579", "url": "https://glygen.org/publication/PubMed/18356579", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18363844", "url": "https://glygen.org/publication/PubMed/18363844", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18370992", "url": "https://glygen.org/publication/PubMed/18370992", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18381446", "url": "https://glygen.org/publication/PubMed/18381446", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18391071", "url": "https://glygen.org/publication/PubMed/18391071", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18397976", "url": "https://glygen.org/publication/PubMed/18397976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18409144", "url": "https://glygen.org/publication/PubMed/18409144", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18426604", "url": "https://glygen.org/publication/PubMed/18426604", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18443205", "url": "https://glygen.org/publication/PubMed/18443205", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18455702", "url": "https://glygen.org/publication/PubMed/18455702", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18477468", "url": "https://glygen.org/publication/PubMed/18477468", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18480058", "url": "https://glygen.org/publication/PubMed/18480058", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18487214", "url": "https://glygen.org/publication/PubMed/18487214", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18498165", "url": "https://glygen.org/publication/PubMed/18498165", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18508192", "url": "https://glygen.org/publication/PubMed/18508192", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18519679", "url": "https://glygen.org/publication/PubMed/18519679", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18535836", "url": "https://glygen.org/publication/PubMed/18535836", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18556572", "url": "https://glygen.org/publication/PubMed/18556572", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18557931", "url": "https://glygen.org/publication/PubMed/18557931", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18565837", "url": "https://glygen.org/publication/PubMed/18565837", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18577685", "url": "https://glygen.org/publication/PubMed/18577685", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18586515", "url": "https://glygen.org/publication/PubMed/18586515", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18615850", "url": "https://glygen.org/publication/PubMed/18615850", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18632646", "url": "https://glygen.org/publication/PubMed/18632646", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18665222", "url": "https://glygen.org/publication/PubMed/18665222", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18670617", "url": "https://glygen.org/publication/PubMed/18670617", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18678787", "url": "https://glygen.org/publication/PubMed/18678787", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18687633", "url": "https://glygen.org/publication/PubMed/18687633", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18691227", "url": "https://glygen.org/publication/PubMed/18691227", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18694847", "url": "https://glygen.org/publication/PubMed/18694847", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18725386", "url": "https://glygen.org/publication/PubMed/18725386", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18725974", "url": "https://glygen.org/publication/PubMed/18725974", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18728666", "url": "https://glygen.org/publication/PubMed/18728666", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18805899", "url": "https://glygen.org/publication/PubMed/18805899", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18812223", "url": "https://glygen.org/publication/PubMed/18812223", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18818526", "url": "https://glygen.org/publication/PubMed/18818526", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18821707", "url": "https://glygen.org/publication/PubMed/18821707", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18831768", "url": "https://glygen.org/publication/PubMed/18831768", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18832563", "url": "https://glygen.org/publication/PubMed/18832563", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18838385", "url": "https://glygen.org/publication/PubMed/18838385", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18838554", "url": "https://glygen.org/publication/PubMed/18838554", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18854827", "url": "https://glygen.org/publication/PubMed/18854827", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18931031", "url": "https://glygen.org/publication/PubMed/18931031", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18931700", "url": "https://glygen.org/publication/PubMed/18931700", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19011679", "url": "https://glygen.org/publication/PubMed/19011679", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19018257", "url": "https://glygen.org/publication/PubMed/19018257", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19036927", "url": "https://glygen.org/publication/PubMed/19036927", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19039330", "url": "https://glygen.org/publication/PubMed/19039330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19055752", "url": "https://glygen.org/publication/PubMed/19055752", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19055754", "url": "https://glygen.org/publication/PubMed/19055754", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19057672", "url": "https://glygen.org/publication/PubMed/19057672", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19064616", "url": "https://glygen.org/publication/PubMed/19064616", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19074832", "url": "https://glygen.org/publication/PubMed/19074832", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19079341", "url": "https://glygen.org/publication/PubMed/19079341", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19109987", "url": "https://glygen.org/publication/PubMed/19109987", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19114562", "url": "https://glygen.org/publication/PubMed/19114562", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19117990", "url": "https://glygen.org/publication/PubMed/19117990", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19133120", "url": "https://glygen.org/publication/PubMed/19133120", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19134195", "url": "https://glygen.org/publication/PubMed/19134195", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19134226", "url": "https://glygen.org/publication/PubMed/19134226", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19158829", "url": "https://glygen.org/publication/PubMed/19158829", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19164772", "url": "https://glygen.org/publication/PubMed/19164772", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19166270", "url": "https://glygen.org/publication/PubMed/19166270", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19166928", "url": "https://glygen.org/publication/PubMed/19166928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19171933", "url": "https://glygen.org/publication/PubMed/19171933", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19175524", "url": "https://glygen.org/publication/PubMed/19175524", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19183465", "url": "https://glygen.org/publication/PubMed/19183465", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19209957", "url": "https://glygen.org/publication/PubMed/19209957", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19211028", "url": "https://glygen.org/publication/PubMed/19211028", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19216748", "url": "https://glygen.org/publication/PubMed/19216748", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19238332", "url": "https://glygen.org/publication/PubMed/19238332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19244117", "url": "https://glygen.org/publication/PubMed/19244117", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19255520", "url": "https://glygen.org/publication/PubMed/19255520", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19262695", "url": "https://glygen.org/publication/PubMed/19262695", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19284309", "url": "https://glygen.org/publication/PubMed/19284309", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19293927", "url": "https://glygen.org/publication/PubMed/19293927", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19320971", "url": "https://glygen.org/publication/PubMed/19320971", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19323821", "url": "https://glygen.org/publication/PubMed/19323821", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19331694", "url": "https://glygen.org/publication/PubMed/19331694", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19349584", "url": "https://glygen.org/publication/PubMed/19349584", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19372546", "url": "https://glygen.org/publication/PubMed/19372546", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19388003", "url": "https://glygen.org/publication/PubMed/19388003", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19402821", "url": "https://glygen.org/publication/PubMed/19402821", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19422047", "url": "https://glygen.org/publication/PubMed/19422047", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19424604", "url": "https://glygen.org/publication/PubMed/19424604", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19448664", "url": "https://glygen.org/publication/PubMed/19448664", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19462258", "url": "https://glygen.org/publication/PubMed/19462258", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19463178", "url": "https://glygen.org/publication/PubMed/19463178", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19465931", "url": "https://glygen.org/publication/PubMed/19465931", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19472218", "url": "https://glygen.org/publication/PubMed/19472218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19483721", "url": "https://glygen.org/publication/PubMed/19483721", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19492080", "url": "https://glygen.org/publication/PubMed/19492080", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19505958", "url": "https://glygen.org/publication/PubMed/19505958", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19517019", "url": "https://glygen.org/publication/PubMed/19517019", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19550420", "url": "https://glygen.org/publication/PubMed/19550420", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19564927", "url": "https://glygen.org/publication/PubMed/19564927", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19568785", "url": "https://glygen.org/publication/PubMed/19568785", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19574087", "url": "https://glygen.org/publication/PubMed/19574087", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19574502", "url": "https://glygen.org/publication/PubMed/19574502", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19602055", "url": "https://glygen.org/publication/PubMed/19602055", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19602587", "url": "https://glygen.org/publication/PubMed/19602587", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19615971", "url": "https://glygen.org/publication/PubMed/19615971", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19616927", "url": "https://glygen.org/publication/PubMed/19616927", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19633130", "url": "https://glygen.org/publication/PubMed/19633130", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19636556", "url": "https://glygen.org/publication/PubMed/19636556", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19638206", "url": "https://glygen.org/publication/PubMed/19638206", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19644030", "url": "https://glygen.org/publication/PubMed/19644030", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19661305", "url": "https://glygen.org/publication/PubMed/19661305", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19661333", "url": "https://glygen.org/publication/PubMed/19661333", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19676105", "url": "https://glygen.org/publication/PubMed/19676105", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690545", "url": "https://glygen.org/publication/PubMed/19690545", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19701246", "url": "https://glygen.org/publication/PubMed/19701246", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19703998", "url": "https://glygen.org/publication/PubMed/19703998", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19720745", "url": "https://glygen.org/publication/PubMed/19720745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19720798", "url": "https://glygen.org/publication/PubMed/19720798", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19724902", "url": "https://glygen.org/publication/PubMed/19724902", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19757038", "url": "https://glygen.org/publication/PubMed/19757038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19762915", "url": "https://glygen.org/publication/PubMed/19762915", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19779850", "url": "https://glygen.org/publication/PubMed/19779850", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19786063", "url": "https://glygen.org/publication/PubMed/19786063", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19789339", "url": "https://glygen.org/publication/PubMed/19789339", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19796390", "url": "https://glygen.org/publication/PubMed/19796390", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19834495", "url": "https://glygen.org/publication/PubMed/19834495", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19855434", "url": "https://glygen.org/publication/PubMed/19855434", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19863783", "url": "https://glygen.org/publication/PubMed/19863783", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19891769", "url": "https://glygen.org/publication/PubMed/19891769", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19902931", "url": "https://glygen.org/publication/PubMed/19902931", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19922411", "url": "https://glygen.org/publication/PubMed/19922411", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19943972", "url": "https://glygen.org/publication/PubMed/19943972", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19946332", "url": "https://glygen.org/publication/PubMed/19946332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19956873", "url": "https://glygen.org/publication/PubMed/19956873", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19996208", "url": "https://glygen.org/publication/PubMed/19996208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19997600", "url": "https://glygen.org/publication/PubMed/19997600", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20011604", "url": "https://glygen.org/publication/PubMed/20011604", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20014066", "url": "https://glygen.org/publication/PubMed/20014066", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20026151", "url": "https://glygen.org/publication/PubMed/20026151", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20038548", "url": "https://glygen.org/publication/PubMed/20038548", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20039275", "url": "https://glygen.org/publication/PubMed/20039275", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20042122", "url": "https://glygen.org/publication/PubMed/20042122", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20046351", "url": "https://glygen.org/publication/PubMed/20046351", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20046837", "url": "https://glygen.org/publication/PubMed/20046837", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20049209", "url": "https://glygen.org/publication/PubMed/20049209", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20051961", "url": "https://glygen.org/publication/PubMed/20051961", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20054000", "url": "https://glygen.org/publication/PubMed/20054000", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20054340", "url": "https://glygen.org/publication/PubMed/20054340", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068168", "url": "https://glygen.org/publication/PubMed/20068168", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20081374", "url": "https://glygen.org/publication/PubMed/20081374", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20084057", "url": "https://glygen.org/publication/PubMed/20084057", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20090934", "url": "https://glygen.org/publication/PubMed/20090934", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20106927", "url": "https://glygen.org/publication/PubMed/20106927", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20112989", "url": "https://glygen.org/publication/PubMed/20112989", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20126311", "url": "https://glygen.org/publication/PubMed/20126311", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20130777", "url": "https://glygen.org/publication/PubMed/20130777", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20150288", "url": "https://glygen.org/publication/PubMed/20150288", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20152809", "url": "https://glygen.org/publication/PubMed/20152809", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20163786", "url": "https://glygen.org/publication/PubMed/20163786", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20167101", "url": "https://glygen.org/publication/PubMed/20167101", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20167420", "url": "https://glygen.org/publication/PubMed/20167420", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20169162", "url": "https://glygen.org/publication/PubMed/20169162", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20183800", "url": "https://glygen.org/publication/PubMed/20183800", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20186153", "url": "https://glygen.org/publication/PubMed/20186153", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20205745", "url": "https://glygen.org/publication/PubMed/20205745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20216949", "url": "https://glygen.org/publication/PubMed/20216949", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20217555", "url": "https://glygen.org/publication/PubMed/20217555", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20224651", "url": "https://glygen.org/publication/PubMed/20224651", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20332342", "url": "https://glygen.org/publication/PubMed/20332342", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20333467", "url": "https://glygen.org/publication/PubMed/20333467", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20334367", "url": "https://glygen.org/publication/PubMed/20334367", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20361045", "url": "https://glygen.org/publication/PubMed/20361045", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20362557", "url": "https://glygen.org/publication/PubMed/20362557", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20364113", "url": "https://glygen.org/publication/PubMed/20364113", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20371728", "url": "https://glygen.org/publication/PubMed/20371728", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20375905", "url": "https://glygen.org/publication/PubMed/20375905", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20383279", "url": "https://glygen.org/publication/PubMed/20383279", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20384568", "url": "https://glygen.org/publication/PubMed/20384568", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20385969", "url": "https://glygen.org/publication/PubMed/20385969", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20400975", "url": "https://glygen.org/publication/PubMed/20400975", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20412566", "url": "https://glygen.org/publication/PubMed/20412566", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20418907", "url": "https://glygen.org/publication/PubMed/20418907", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20421190", "url": "https://glygen.org/publication/PubMed/20421190", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20451318", "url": "https://glygen.org/publication/PubMed/20451318", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20454577", "url": "https://glygen.org/publication/PubMed/20454577", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20463894", "url": "https://glygen.org/publication/PubMed/20463894", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20470857", "url": "https://glygen.org/publication/PubMed/20470857", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20489726", "url": "https://glygen.org/publication/PubMed/20489726", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20492449", "url": "https://glygen.org/publication/PubMed/20492449", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20494139", "url": "https://glygen.org/publication/PubMed/20494139", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20507646", "url": "https://glygen.org/publication/PubMed/20507646", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20517722", "url": "https://glygen.org/publication/PubMed/20517722", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20520724", "url": "https://glygen.org/publication/PubMed/20520724", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20527022", "url": "https://glygen.org/publication/PubMed/20527022", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20530982", "url": "https://glygen.org/publication/PubMed/20530982", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20537156", "url": "https://glygen.org/publication/PubMed/20537156", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20540782", "url": "https://glygen.org/publication/PubMed/20540782", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20543991", "url": "https://glygen.org/publication/PubMed/20543991", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20547325", "url": "https://glygen.org/publication/PubMed/20547325", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20555032", "url": "https://glygen.org/publication/PubMed/20555032", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20585660", "url": "https://glygen.org/publication/PubMed/20585660", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20597130", "url": "https://glygen.org/publication/PubMed/20597130", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20628892", "url": "https://glygen.org/publication/PubMed/20628892", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20663232", "url": "https://glygen.org/publication/PubMed/20663232", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20679434", "url": "https://glygen.org/publication/PubMed/20679434", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20685965", "url": "https://glygen.org/publication/PubMed/20685965", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20686120", "url": "https://glygen.org/publication/PubMed/20686120", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20691662", "url": "https://glygen.org/publication/PubMed/20691662", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20704701", "url": "https://glygen.org/publication/PubMed/20704701", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20716939", "url": "https://glygen.org/publication/PubMed/20716939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20729916", "url": "https://glygen.org/publication/PubMed/20729916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20736160", "url": "https://glygen.org/publication/PubMed/20736160", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20804500", "url": "https://glygen.org/publication/PubMed/20804500", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20811673", "url": "https://glygen.org/publication/PubMed/20811673", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20817061", "url": "https://glygen.org/publication/PubMed/20817061", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20836557", "url": "https://glygen.org/publication/PubMed/20836557", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20844023", "url": "https://glygen.org/publication/PubMed/20844023", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20860815", "url": "https://glygen.org/publication/PubMed/20860815", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20863384", "url": "https://glygen.org/publication/PubMed/20863384", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20863403", "url": "https://glygen.org/publication/PubMed/20863403", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20920357", "url": "https://glygen.org/publication/PubMed/20920357", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20926588", "url": "https://glygen.org/publication/PubMed/20926588", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20927395", "url": "https://glygen.org/publication/PubMed/20927395", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20941790", "url": "https://glygen.org/publication/PubMed/20941790", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20950443", "url": "https://glygen.org/publication/PubMed/20950443", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20952497", "url": "https://glygen.org/publication/PubMed/20952497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20953381", "url": "https://glygen.org/publication/PubMed/20953381", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20957047", "url": "https://glygen.org/publication/PubMed/20957047", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20975834", "url": "https://glygen.org/publication/PubMed/20975834", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20980511", "url": "https://glygen.org/publication/PubMed/20980511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21040800", "url": "https://glygen.org/publication/PubMed/21040800", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21049033", "url": "https://glygen.org/publication/PubMed/21049033", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21059203", "url": "https://glygen.org/publication/PubMed/21059203", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21072193", "url": "https://glygen.org/publication/PubMed/21072193", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21078168", "url": "https://glygen.org/publication/PubMed/21078168", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21080918", "url": "https://glygen.org/publication/PubMed/21080918", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21081844", "url": "https://glygen.org/publication/PubMed/21081844", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21086135", "url": "https://glygen.org/publication/PubMed/21086135", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21097843", "url": "https://glygen.org/publication/PubMed/21097843", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21128248", "url": "https://glygen.org/publication/PubMed/21128248", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21131356", "url": "https://glygen.org/publication/PubMed/21131356", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21134280", "url": "https://glygen.org/publication/PubMed/21134280", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21144036", "url": "https://glygen.org/publication/PubMed/21144036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21148296", "url": "https://glygen.org/publication/PubMed/21148296", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21152033", "url": "https://glygen.org/publication/PubMed/21152033", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21177249", "url": "https://glygen.org/publication/PubMed/21177249", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21183727", "url": "https://glygen.org/publication/PubMed/21183727", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21192818", "url": "https://glygen.org/publication/PubMed/21192818", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21193562", "url": "https://glygen.org/publication/PubMed/21193562", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21204013", "url": "https://glygen.org/publication/PubMed/21204013", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21209911", "url": "https://glygen.org/publication/PubMed/21209911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21212404", "url": "https://glygen.org/publication/PubMed/21212404", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21215240", "url": "https://glygen.org/publication/PubMed/21215240", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21253589", "url": "https://glygen.org/publication/PubMed/21253589", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21266528", "url": "https://glygen.org/publication/PubMed/21266528", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21278786", "url": "https://glygen.org/publication/PubMed/21278786", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21283818", "url": "https://glygen.org/publication/PubMed/21283818", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21284537", "url": "https://glygen.org/publication/PubMed/21284537", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21291561", "url": "https://glygen.org/publication/PubMed/21291561", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21296133", "url": "https://glygen.org/publication/PubMed/21296133", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21297971", "url": "https://glygen.org/publication/PubMed/21297971", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21300751", "url": "https://glygen.org/publication/PubMed/21300751", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21307779", "url": "https://glygen.org/publication/PubMed/21307779", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21309701", "url": "https://glygen.org/publication/PubMed/21309701", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21310961", "url": "https://glygen.org/publication/PubMed/21310961", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21321111", "url": "https://glygen.org/publication/PubMed/21321111", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21321187", "url": "https://glygen.org/publication/PubMed/21321187", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21325624", "url": "https://glygen.org/publication/PubMed/21325624", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21326806", "url": "https://glygen.org/publication/PubMed/21326806", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21333374", "url": "https://glygen.org/publication/PubMed/21333374", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21350947", "url": "https://glygen.org/publication/PubMed/21350947", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21364639", "url": "https://glygen.org/publication/PubMed/21364639", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21396911", "url": "https://glygen.org/publication/PubMed/21396911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21402788", "url": "https://glygen.org/publication/PubMed/21402788", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21415306", "url": "https://glygen.org/publication/PubMed/21415306", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21425139", "url": "https://glygen.org/publication/PubMed/21425139", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21436253", "url": "https://glygen.org/publication/PubMed/21436253", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21437771", "url": "https://glygen.org/publication/PubMed/21437771", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21445305", "url": "https://glygen.org/publication/PubMed/21445305", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21447180", "url": "https://glygen.org/publication/PubMed/21447180", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21461637", "url": "https://glygen.org/publication/PubMed/21461637", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21471536", "url": "https://glygen.org/publication/PubMed/21471536", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21472003", "url": "https://glygen.org/publication/PubMed/21472003", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21490677", "url": "https://glygen.org/publication/PubMed/21490677", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21496273", "url": "https://glygen.org/publication/PubMed/21496273", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21499296", "url": "https://glygen.org/publication/PubMed/21499296", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21505451", "url": "https://glygen.org/publication/PubMed/21505451", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21514425", "url": "https://glygen.org/publication/PubMed/21514425", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21538438", "url": "https://glygen.org/publication/PubMed/21538438", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21559284", "url": "https://glygen.org/publication/PubMed/21559284", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21559502", "url": "https://glygen.org/publication/PubMed/21559502", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21600017", "url": "https://glygen.org/publication/PubMed/21600017", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21600875", "url": "https://glygen.org/publication/PubMed/21600875", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21625516", "url": "https://glygen.org/publication/PubMed/21625516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21625639", "url": "https://glygen.org/publication/PubMed/21625639", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21644050", "url": "https://glygen.org/publication/PubMed/21644050", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21647420", "url": "https://glygen.org/publication/PubMed/21647420", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21655183", "url": "https://glygen.org/publication/PubMed/21655183", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21660042", "url": "https://glygen.org/publication/PubMed/21660042", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21666717", "url": "https://glygen.org/publication/PubMed/21666717", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21668414", "url": "https://glygen.org/publication/PubMed/21668414", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21672148", "url": "https://glygen.org/publication/PubMed/21672148", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21682918", "url": "https://glygen.org/publication/PubMed/21682918", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21687633", "url": "https://glygen.org/publication/PubMed/21687633", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21698202", "url": "https://glygen.org/publication/PubMed/21698202", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21704120", "url": "https://glygen.org/publication/PubMed/21704120", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21722370", "url": "https://glygen.org/publication/PubMed/21722370", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21723633", "url": "https://glygen.org/publication/PubMed/21723633", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21724622", "url": "https://glygen.org/publication/PubMed/21724622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21741919", "url": "https://glygen.org/publication/PubMed/21741919", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21747918", "url": "https://glygen.org/publication/PubMed/21747918", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21750652", "url": "https://glygen.org/publication/PubMed/21750652", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21763075", "url": "https://glygen.org/publication/PubMed/21763075", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21763421", "url": "https://glygen.org/publication/PubMed/21763421", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21767636", "url": "https://glygen.org/publication/PubMed/21767636", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21775480", "url": "https://glygen.org/publication/PubMed/21775480", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21789189", "url": "https://glygen.org/publication/PubMed/21789189", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21795477", "url": "https://glygen.org/publication/PubMed/21795477", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21796074", "url": "https://glygen.org/publication/PubMed/21796074", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21804606", "url": "https://glygen.org/publication/PubMed/21804606", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21818627", "url": "https://glygen.org/publication/PubMed/21818627", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21821012", "url": "https://glygen.org/publication/PubMed/21821012", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21837363", "url": "https://glygen.org/publication/PubMed/21837363", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21840189", "url": "https://glygen.org/publication/PubMed/21840189", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21864408", "url": "https://glygen.org/publication/PubMed/21864408", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21867682", "url": "https://glygen.org/publication/PubMed/21867682", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21871173", "url": "https://glygen.org/publication/PubMed/21871173", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21871446", "url": "https://glygen.org/publication/PubMed/21871446", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21874045", "url": "https://glygen.org/publication/PubMed/21874045", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21887250", "url": "https://glygen.org/publication/PubMed/21887250", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21898122", "url": "https://glygen.org/publication/PubMed/21898122", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21900500", "url": "https://glygen.org/publication/PubMed/21900500", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21901254", "url": "https://glygen.org/publication/PubMed/21901254", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21904110", "url": "https://glygen.org/publication/PubMed/21904110", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21908613", "url": "https://glygen.org/publication/PubMed/21908613", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21943213", "url": "https://glygen.org/publication/PubMed/21943213", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21952497", "url": "https://glygen.org/publication/PubMed/21952497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21956113", "url": "https://glygen.org/publication/PubMed/21956113", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21984893", "url": "https://glygen.org/publication/PubMed/21984893", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21991327", "url": "https://glygen.org/publication/PubMed/21991327", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22012613", "url": "https://glygen.org/publication/PubMed/22012613", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22016349", "url": "https://glygen.org/publication/PubMed/22016349", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22025163", "url": "https://glygen.org/publication/PubMed/22025163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22029423", "url": "https://glygen.org/publication/PubMed/22029423", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22039466", "url": "https://glygen.org/publication/PubMed/22039466", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22046442", "url": "https://glygen.org/publication/PubMed/22046442", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22060274", "url": "https://glygen.org/publication/PubMed/22060274", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22071574", "url": "https://glygen.org/publication/PubMed/22071574", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22073312", "url": "https://glygen.org/publication/PubMed/22073312", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22084251", "url": "https://glygen.org/publication/PubMed/22084251", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22107784", "url": "https://glygen.org/publication/PubMed/22107784", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22110663", "url": "https://glygen.org/publication/PubMed/22110663", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22116303", "url": "https://glygen.org/publication/PubMed/22116303", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22131882", "url": "https://glygen.org/publication/PubMed/22131882", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22139837", "url": "https://glygen.org/publication/PubMed/22139837", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22142888", "url": "https://glygen.org/publication/PubMed/22142888", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22155350", "url": "https://glygen.org/publication/PubMed/22155350", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22173835", "url": "https://glygen.org/publication/PubMed/22173835", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22184107", "url": "https://glygen.org/publication/PubMed/22184107", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22184110", "url": "https://glygen.org/publication/PubMed/22184110", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22185378", "url": "https://glygen.org/publication/PubMed/22185378", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22194965", "url": "https://glygen.org/publication/PubMed/22194965", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22204954", "url": "https://glygen.org/publication/PubMed/22204954", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22207758", "url": "https://glygen.org/publication/PubMed/22207758", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22211100", "url": "https://glygen.org/publication/PubMed/22211100", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22235305", "url": "https://glygen.org/publication/PubMed/22235305", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22245935", "url": "https://glygen.org/publication/PubMed/22245935", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22248929", "url": "https://glygen.org/publication/PubMed/22248929", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22253197", "url": "https://glygen.org/publication/PubMed/22253197", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22253983", "url": "https://glygen.org/publication/PubMed/22253983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22259221", "url": "https://glygen.org/publication/PubMed/22259221", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22262182", "url": "https://glygen.org/publication/PubMed/22262182", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22280833", "url": "https://glygen.org/publication/PubMed/22280833", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22289259", "url": "https://glygen.org/publication/PubMed/22289259", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22293289", "url": "https://glygen.org/publication/PubMed/22293289", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22305966", "url": "https://glygen.org/publication/PubMed/22305966", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22322917", "url": "https://glygen.org/publication/PubMed/22322917", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22337773", "url": "https://glygen.org/publication/PubMed/22337773", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22347457", "url": "https://glygen.org/publication/PubMed/22347457", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22363436", "url": "https://glygen.org/publication/PubMed/22363436", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22363598", "url": "https://glygen.org/publication/PubMed/22363598", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22374978", "url": "https://glygen.org/publication/PubMed/22374978", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22384145", "url": "https://glygen.org/publication/PubMed/22384145", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22388104", "url": "https://glygen.org/publication/PubMed/22388104", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22391563", "url": "https://glygen.org/publication/PubMed/22391563", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22415553", "url": "https://glygen.org/publication/PubMed/22415553", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22422409", "url": "https://glygen.org/publication/PubMed/22422409", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22431710", "url": "https://glygen.org/publication/PubMed/22431710", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22458600", "url": "https://glygen.org/publication/PubMed/22458600", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22460505", "url": "https://glygen.org/publication/PubMed/22460505", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22473959", "url": "https://glygen.org/publication/PubMed/22473959", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22476852", "url": "https://glygen.org/publication/PubMed/22476852", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22487004", "url": "https://glygen.org/publication/PubMed/22487004", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22492939", "url": "https://glygen.org/publication/PubMed/22492939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22493067", "url": "https://glygen.org/publication/PubMed/22493067", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22509246", "url": "https://glygen.org/publication/PubMed/22509246", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22510297", "url": "https://glygen.org/publication/PubMed/22510297", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22511762", "url": "https://glygen.org/publication/PubMed/22511762", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22523681", "url": "https://glygen.org/publication/PubMed/22523681", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22530768", "url": "https://glygen.org/publication/PubMed/22530768", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22532249", "url": "https://glygen.org/publication/PubMed/22532249", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22536436", "url": "https://glygen.org/publication/PubMed/22536436", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22550181", "url": "https://glygen.org/publication/PubMed/22550181", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22569334", "url": "https://glygen.org/publication/PubMed/22569334", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22570727", "url": "https://glygen.org/publication/PubMed/22570727", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22590625", "url": "https://glygen.org/publication/PubMed/22590625", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22590634", "url": "https://glygen.org/publication/PubMed/22590634", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22614157", "url": "https://glygen.org/publication/PubMed/22614157", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22623960", "url": "https://glygen.org/publication/PubMed/22623960", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22634313", "url": "https://glygen.org/publication/PubMed/22634313", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22657251", "url": "https://glygen.org/publication/PubMed/22657251", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22673183", "url": "https://glygen.org/publication/PubMed/22673183", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22675562", "url": "https://glygen.org/publication/PubMed/22675562", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22685542", "url": "https://glygen.org/publication/PubMed/22685542", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22690138", "url": "https://glygen.org/publication/PubMed/22690138", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22709426", "url": "https://glygen.org/publication/PubMed/22709426", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22710713", "url": "https://glygen.org/publication/PubMed/22710713", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22728270", "url": "https://glygen.org/publication/PubMed/22728270", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22728372", "url": "https://glygen.org/publication/PubMed/22728372", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22730174", "url": "https://glygen.org/publication/PubMed/22730174", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22733130", "url": "https://glygen.org/publication/PubMed/22733130", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22739265", "url": "https://glygen.org/publication/PubMed/22739265", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22739986", "url": "https://glygen.org/publication/PubMed/22739986", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22739988", "url": "https://glygen.org/publication/PubMed/22739988", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22745786", "url": "https://glygen.org/publication/PubMed/22745786", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22767580", "url": "https://glygen.org/publication/PubMed/22767580", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22771387", "url": "https://glygen.org/publication/PubMed/22771387", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22781553", "url": "https://glygen.org/publication/PubMed/22781553", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22785470", "url": "https://glygen.org/publication/PubMed/22785470", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22789858", "url": "https://glygen.org/publication/PubMed/22789858", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22799881", "url": "https://glygen.org/publication/PubMed/22799881", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22809628", "url": "https://glygen.org/publication/PubMed/22809628", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22824823", "url": "https://glygen.org/publication/PubMed/22824823", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22830422", "url": "https://glygen.org/publication/PubMed/22830422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22839755", "url": "https://glygen.org/publication/PubMed/22839755", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22864984", "url": "https://glygen.org/publication/PubMed/22864984", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22869144", "url": "https://glygen.org/publication/PubMed/22869144", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22872237", "url": "https://glygen.org/publication/PubMed/22872237", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22879882", "url": "https://glygen.org/publication/PubMed/22879882", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22880048", "url": "https://glygen.org/publication/PubMed/22880048", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22902327", "url": "https://glygen.org/publication/PubMed/22902327", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22902833", "url": "https://glygen.org/publication/PubMed/22902833", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22905202", "url": "https://glygen.org/publication/PubMed/22905202", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22909302", "url": "https://glygen.org/publication/PubMed/22909302", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22911700", "url": "https://glygen.org/publication/PubMed/22911700", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22911754", "url": "https://glygen.org/publication/PubMed/22911754", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22911820", "url": "https://glygen.org/publication/PubMed/22911820", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22912850", "url": "https://glygen.org/publication/PubMed/22912850", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22927331", "url": "https://glygen.org/publication/PubMed/22927331", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22928011", "url": "https://glygen.org/publication/PubMed/22928011", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22952709", "url": "https://glygen.org/publication/PubMed/22952709", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22956257", "url": "https://glygen.org/publication/PubMed/22956257", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22957045", "url": "https://glygen.org/publication/PubMed/22957045", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22975683", "url": "https://glygen.org/publication/PubMed/22975683", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23007634", "url": "https://glygen.org/publication/PubMed/23007634", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23011139", "url": "https://glygen.org/publication/PubMed/23011139", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23045700", "url": "https://glygen.org/publication/PubMed/23045700", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23049696", "url": "https://glygen.org/publication/PubMed/23049696", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23071583", "url": "https://glygen.org/publication/PubMed/23071583", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23072587", "url": "https://glygen.org/publication/PubMed/23072587", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23077590", "url": "https://glygen.org/publication/PubMed/23077590", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23082158", "url": "https://glygen.org/publication/PubMed/23082158", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23086641", "url": "https://glygen.org/publication/PubMed/23086641", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23091617", "url": "https://glygen.org/publication/PubMed/23091617", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23094058", "url": "https://glygen.org/publication/PubMed/23094058", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23100325", "url": "https://glygen.org/publication/PubMed/23100325", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23119004", "url": "https://glygen.org/publication/PubMed/23119004", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23127854", "url": "https://glygen.org/publication/PubMed/23127854", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23142241", "url": "https://glygen.org/publication/PubMed/23142241", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23142521", "url": "https://glygen.org/publication/PubMed/23142521", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23147412", "url": "https://glygen.org/publication/PubMed/23147412", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23151908", "url": "https://glygen.org/publication/PubMed/23151908", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23152054", "url": "https://glygen.org/publication/PubMed/23152054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23155381", "url": "https://glygen.org/publication/PubMed/23155381", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23165443", "url": "https://glygen.org/publication/PubMed/23165443", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23167739", "url": "https://glygen.org/publication/PubMed/23167739", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23176396", "url": "https://glygen.org/publication/PubMed/23176396", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23182460", "url": "https://glygen.org/publication/PubMed/23182460", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23183047", "url": "https://glygen.org/publication/PubMed/23183047", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23208610", "url": "https://glygen.org/publication/PubMed/23208610", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23209838", "url": "https://glygen.org/publication/PubMed/23209838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23220480", "url": "https://glygen.org/publication/PubMed/23220480", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23226094", "url": "https://glygen.org/publication/PubMed/23226094", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23237847", "url": "https://glygen.org/publication/PubMed/23237847", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23242584", "url": "https://glygen.org/publication/PubMed/23242584", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23243000", "url": "https://glygen.org/publication/PubMed/23243000", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23245988", "url": "https://glygen.org/publication/PubMed/23245988", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23250732", "url": "https://glygen.org/publication/PubMed/23250732", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23255002", "url": "https://glygen.org/publication/PubMed/23255002", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23259744", "url": "https://glygen.org/publication/PubMed/23259744", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23263555", "url": "https://glygen.org/publication/PubMed/23263555", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23272152", "url": "https://glygen.org/publication/PubMed/23272152", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23274898", "url": "https://glygen.org/publication/PubMed/23274898", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23284736", "url": "https://glygen.org/publication/PubMed/23284736", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23285096", "url": "https://glygen.org/publication/PubMed/23285096", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23291718", "url": "https://glygen.org/publication/PubMed/23291718", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23300339", "url": "https://glygen.org/publication/PubMed/23300339", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23300563", "url": "https://glygen.org/publication/PubMed/23300563", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23300998", "url": "https://glygen.org/publication/PubMed/23300998", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23303682", "url": "https://glygen.org/publication/PubMed/23303682", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23311938", "url": "https://glygen.org/publication/PubMed/23311938", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23319332", "url": "https://glygen.org/publication/PubMed/23319332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23326514", "url": "https://glygen.org/publication/PubMed/23326514", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23343403", "url": "https://glygen.org/publication/PubMed/23343403", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23349842", "url": "https://glygen.org/publication/PubMed/23349842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23349855", "url": "https://glygen.org/publication/PubMed/23349855", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23349989", "url": "https://glygen.org/publication/PubMed/23349989", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23380710", "url": "https://glygen.org/publication/PubMed/23380710", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23381805", "url": "https://glygen.org/publication/PubMed/23381805", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23383195", "url": "https://glygen.org/publication/PubMed/23383195", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23383252", "url": "https://glygen.org/publication/PubMed/23383252", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23383347", "url": "https://glygen.org/publication/PubMed/23383347", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23389114", "url": "https://glygen.org/publication/PubMed/23389114", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23396361", "url": "https://glygen.org/publication/PubMed/23396361", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23402310", "url": "https://glygen.org/publication/PubMed/23402310", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23408974", "url": "https://glygen.org/publication/PubMed/23408974", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23409093", "url": "https://glygen.org/publication/PubMed/23409093", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23415012", "url": "https://glygen.org/publication/PubMed/23415012", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23419269", "url": "https://glygen.org/publication/PubMed/23419269", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23420345", "url": "https://glygen.org/publication/PubMed/23420345", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23420486", "url": "https://glygen.org/publication/PubMed/23420486", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23426781", "url": "https://glygen.org/publication/PubMed/23426781", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23427269", "url": "https://glygen.org/publication/PubMed/23427269", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23437141", "url": "https://glygen.org/publication/PubMed/23437141", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23437184", "url": "https://glygen.org/publication/PubMed/23437184", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23437362", "url": "https://glygen.org/publication/PubMed/23437362", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23440515", "url": "https://glygen.org/publication/PubMed/23440515", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23440594", "url": "https://glygen.org/publication/PubMed/23440594", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23442976", "url": "https://glygen.org/publication/PubMed/23442976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23443110", "url": "https://glygen.org/publication/PubMed/23443110", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23460862", "url": "https://glygen.org/publication/PubMed/23460862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23466053", "url": "https://glygen.org/publication/PubMed/23466053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23468988", "url": "https://glygen.org/publication/PubMed/23468988", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23469007", "url": "https://glygen.org/publication/PubMed/23469007", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23497867", "url": "https://glygen.org/publication/PubMed/23497867", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23506355", "url": "https://glygen.org/publication/PubMed/23506355", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23509892", "url": "https://glygen.org/publication/PubMed/23509892", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23517112", "url": "https://glygen.org/publication/PubMed/23517112", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23520133", "url": "https://glygen.org/publication/PubMed/23520133", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23529222", "url": "https://glygen.org/publication/PubMed/23529222", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23552696", "url": "https://glygen.org/publication/PubMed/23552696", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23554999", "url": "https://glygen.org/publication/PubMed/23554999", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23555559", "url": "https://glygen.org/publication/PubMed/23555559", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23566222", "url": "https://glygen.org/publication/PubMed/23566222", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23570421", "url": "https://glygen.org/publication/PubMed/23570421", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23573286", "url": "https://glygen.org/publication/PubMed/23573286", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23580233", "url": "https://glygen.org/publication/PubMed/23580233", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23590596", "url": "https://glygen.org/publication/PubMed/23590596", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23596468", "url": "https://glygen.org/publication/PubMed/23596468", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23596569", "url": "https://glygen.org/publication/PubMed/23596569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23598299", "url": "https://glygen.org/publication/PubMed/23598299", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23618343", "url": "https://glygen.org/publication/PubMed/23618343", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23623869", "url": "https://glygen.org/publication/PubMed/23623869", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23623968", "url": "https://glygen.org/publication/PubMed/23623968", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23632475", "url": "https://glygen.org/publication/PubMed/23632475", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23644504", "url": "https://glygen.org/publication/PubMed/23644504", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23650507", "url": "https://glygen.org/publication/PubMed/23650507", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23652833", "url": "https://glygen.org/publication/PubMed/23652833", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23668972", "url": "https://glygen.org/publication/PubMed/23668972", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23671619", "url": "https://glygen.org/publication/PubMed/23671619", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23673367", "url": "https://glygen.org/publication/PubMed/23673367", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23676467", "url": "https://glygen.org/publication/PubMed/23676467", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23680186", "url": "https://glygen.org/publication/PubMed/23680186", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23681745", "url": "https://glygen.org/publication/PubMed/23681745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23682967", "url": "https://glygen.org/publication/PubMed/23682967", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23684622", "url": "https://glygen.org/publication/PubMed/23684622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23686305", "url": "https://glygen.org/publication/PubMed/23686305", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23693014", "url": "https://glygen.org/publication/PubMed/23693014", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23696823", "url": "https://glygen.org/publication/PubMed/23696823", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23705826", "url": "https://glygen.org/publication/PubMed/23705826", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23707764", "url": "https://glygen.org/publication/PubMed/23707764", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23725059", "url": "https://glygen.org/publication/PubMed/23725059", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23727661", "url": "https://glygen.org/publication/PubMed/23727661", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23732709", "url": "https://glygen.org/publication/PubMed/23732709", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23748344", "url": "https://glygen.org/publication/PubMed/23748344", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23760395", "url": "https://glygen.org/publication/PubMed/23760395", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23762398", "url": "https://glygen.org/publication/PubMed/23762398", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23764845", "url": "https://glygen.org/publication/PubMed/23764845", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23773626", "url": "https://glygen.org/publication/PubMed/23773626", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23776620", "url": "https://glygen.org/publication/PubMed/23776620", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23785417", "url": "https://glygen.org/publication/PubMed/23785417", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23792675", "url": "https://glygen.org/publication/PubMed/23792675", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23796957", "url": "https://glygen.org/publication/PubMed/23796957", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23799035", "url": "https://glygen.org/publication/PubMed/23799035", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23799852", "url": "https://glygen.org/publication/PubMed/23799852", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23802099", "url": "https://glygen.org/publication/PubMed/23802099", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23803188", "url": "https://glygen.org/publication/PubMed/23803188", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23803661", "url": "https://glygen.org/publication/PubMed/23803661", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23824064", "url": "https://glygen.org/publication/PubMed/23824064", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23824914", "url": "https://glygen.org/publication/PubMed/23824914", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23844554", "url": "https://glygen.org/publication/PubMed/23844554", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23845085", "url": "https://glygen.org/publication/PubMed/23845085", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23867201", "url": "https://glygen.org/publication/PubMed/23867201", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23872070", "url": "https://glygen.org/publication/PubMed/23872070", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23872419", "url": "https://glygen.org/publication/PubMed/23872419", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23874483", "url": "https://glygen.org/publication/PubMed/23874483", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23874694", "url": "https://glygen.org/publication/PubMed/23874694", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23874880", "url": "https://glygen.org/publication/PubMed/23874880", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23880825", "url": "https://glygen.org/publication/PubMed/23880825", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23895284", "url": "https://glygen.org/publication/PubMed/23895284", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23900743", "url": "https://glygen.org/publication/PubMed/23900743", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23902739", "url": "https://glygen.org/publication/PubMed/23902739", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23904987", "url": "https://glygen.org/publication/PubMed/23904987", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23912456", "url": "https://glygen.org/publication/PubMed/23912456", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23922669", "url": "https://glygen.org/publication/PubMed/23922669", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23922774", "url": "https://glygen.org/publication/PubMed/23922774", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23928696", "url": "https://glygen.org/publication/PubMed/23928696", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23933705", "url": "https://glygen.org/publication/PubMed/23933705", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23935944", "url": "https://glygen.org/publication/PubMed/23935944", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23938603", "url": "https://glygen.org/publication/PubMed/23938603", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23940416", "url": "https://glygen.org/publication/PubMed/23940416", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23940660", "url": "https://glygen.org/publication/PubMed/23940660", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23940704", "url": "https://glygen.org/publication/PubMed/23940704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23946798", "url": "https://glygen.org/publication/PubMed/23946798", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23950935", "url": "https://glygen.org/publication/PubMed/23950935", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23951036", "url": "https://glygen.org/publication/PubMed/23951036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23951353", "url": "https://glygen.org/publication/PubMed/23951353", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23958999", "url": "https://glygen.org/publication/PubMed/23958999", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23977025", "url": "https://glygen.org/publication/PubMed/23977025", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23979601", "url": "https://glygen.org/publication/PubMed/23979601", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23984323", "url": "https://glygen.org/publication/PubMed/23984323", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23989949", "url": "https://glygen.org/publication/PubMed/23989949", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23990921", "url": "https://glygen.org/publication/PubMed/23990921", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23995785", "url": "https://glygen.org/publication/PubMed/23995785", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23996929", "url": "https://glygen.org/publication/PubMed/23996929", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24006489", "url": "https://glygen.org/publication/PubMed/24006489", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24023012", "url": "https://glygen.org/publication/PubMed/24023012", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24023938", "url": "https://glygen.org/publication/PubMed/24023938", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24024143", "url": "https://glygen.org/publication/PubMed/24024143", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24036604", "url": "https://glygen.org/publication/PubMed/24036604", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24040255", "url": "https://glygen.org/publication/PubMed/24040255", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24042734", "url": "https://glygen.org/publication/PubMed/24042734", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24053190", "url": "https://glygen.org/publication/PubMed/24053190", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24053672", "url": "https://glygen.org/publication/PubMed/24053672", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24058557", "url": "https://glygen.org/publication/PubMed/24058557", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24070020", "url": "https://glygen.org/publication/PubMed/24070020", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24073922", "url": "https://glygen.org/publication/PubMed/24073922", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24079335", "url": "https://glygen.org/publication/PubMed/24079335", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24086535", "url": "https://glygen.org/publication/PubMed/24086535", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24086728", "url": "https://glygen.org/publication/PubMed/24086728", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24091816", "url": "https://glygen.org/publication/PubMed/24091816", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24094245", "url": "https://glygen.org/publication/PubMed/24094245", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24098375", "url": "https://glygen.org/publication/PubMed/24098375", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24098385", "url": "https://glygen.org/publication/PubMed/24098385", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24107614", "url": "https://glygen.org/publication/PubMed/24107614", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24113173", "url": "https://glygen.org/publication/PubMed/24113173", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24115733", "url": "https://glygen.org/publication/PubMed/24115733", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24117074", "url": "https://glygen.org/publication/PubMed/24117074", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24126619", "url": "https://glygen.org/publication/PubMed/24126619", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24131623", "url": "https://glygen.org/publication/PubMed/24131623", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24157493", "url": "https://glygen.org/publication/PubMed/24157493", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24159375", "url": "https://glygen.org/publication/PubMed/24159375", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24161930", "url": "https://glygen.org/publication/PubMed/24161930", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24169049", "url": "https://glygen.org/publication/PubMed/24169049", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24175297", "url": "https://glygen.org/publication/PubMed/24175297", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24176845", "url": "https://glygen.org/publication/PubMed/24176845", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24178756", "url": "https://glygen.org/publication/PubMed/24178756", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24179501", "url": "https://glygen.org/publication/PubMed/24179501", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24179530", "url": "https://glygen.org/publication/PubMed/24179530", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24188406", "url": "https://glygen.org/publication/PubMed/24188406", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24201812", "url": "https://glygen.org/publication/PubMed/24201812", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24217713", "url": "https://glygen.org/publication/PubMed/24217713", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24232099", "url": "https://glygen.org/publication/PubMed/24232099", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24236150", "url": "https://glygen.org/publication/PubMed/24236150", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24244481", "url": "https://glygen.org/publication/PubMed/24244481", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24244612", "url": "https://glygen.org/publication/PubMed/24244612", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24247980", "url": "https://glygen.org/publication/PubMed/24247980", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24260371", "url": "https://glygen.org/publication/PubMed/24260371", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24273605", "url": "https://glygen.org/publication/PubMed/24273605", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24280348", "url": "https://glygen.org/publication/PubMed/24280348", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24280901", "url": "https://glygen.org/publication/PubMed/24280901", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24282571", "url": "https://glygen.org/publication/PubMed/24282571", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24284390", "url": "https://glygen.org/publication/PubMed/24284390", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24302564", "url": "https://glygen.org/publication/PubMed/24302564", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24312263", "url": "https://glygen.org/publication/PubMed/24312263", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24316235", "url": "https://glygen.org/publication/PubMed/24316235", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24317467", "url": "https://glygen.org/publication/PubMed/24317467", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24325618", "url": "https://glygen.org/publication/PubMed/24325618", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24336406", "url": "https://glygen.org/publication/PubMed/24336406", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24337632", "url": "https://glygen.org/publication/PubMed/24337632", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24338765", "url": "https://glygen.org/publication/PubMed/24338765", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24349321", "url": "https://glygen.org/publication/PubMed/24349321", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24352480", "url": "https://glygen.org/publication/PubMed/24352480", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24354797", "url": "https://glygen.org/publication/PubMed/24354797", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24356956", "url": "https://glygen.org/publication/PubMed/24356956", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24358196", "url": "https://glygen.org/publication/PubMed/24358196", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24365180", "url": "https://glygen.org/publication/PubMed/24365180", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24372645", "url": "https://glygen.org/publication/PubMed/24372645", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24374242", "url": "https://glygen.org/publication/PubMed/24374242", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24377058", "url": "https://glygen.org/publication/PubMed/24377058", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24378649", "url": "https://glygen.org/publication/PubMed/24378649", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24379655", "url": "https://glygen.org/publication/PubMed/24379655", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24384983", "url": "https://glygen.org/publication/PubMed/24384983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24392034", "url": "https://glygen.org/publication/PubMed/24392034", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24396487", "url": "https://glygen.org/publication/PubMed/24396487", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24402647", "url": "https://glygen.org/publication/PubMed/24402647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24413065", "url": "https://glygen.org/publication/PubMed/24413065", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24416349", "url": "https://glygen.org/publication/PubMed/24416349", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24416418", "url": "https://glygen.org/publication/PubMed/24416418", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24428908", "url": "https://glygen.org/publication/PubMed/24428908", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24435307", "url": "https://glygen.org/publication/PubMed/24435307", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24446434", "url": "https://glygen.org/publication/PubMed/24446434", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24448243", "url": "https://glygen.org/publication/PubMed/24448243", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24448490", "url": "https://glygen.org/publication/PubMed/24448490", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24451322", "url": "https://glygen.org/publication/PubMed/24451322", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24452601", "url": "https://glygen.org/publication/PubMed/24452601", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24454800", "url": "https://glygen.org/publication/PubMed/24454800", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24462769", "url": "https://glygen.org/publication/PubMed/24462769", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24467442", "url": "https://glygen.org/publication/PubMed/24467442", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24479521", "url": "https://glygen.org/publication/PubMed/24479521", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24496460", "url": "https://glygen.org/publication/PubMed/24496460", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24521094", "url": "https://glygen.org/publication/PubMed/24521094", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24521217", "url": "https://glygen.org/publication/PubMed/24521217", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24523415", "url": "https://glygen.org/publication/PubMed/24523415", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24523904", "url": "https://glygen.org/publication/PubMed/24523904", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24525337", "url": "https://glygen.org/publication/PubMed/24525337", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24526702", "url": "https://glygen.org/publication/PubMed/24526702", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24535192", "url": "https://glygen.org/publication/PubMed/24535192", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24558442", "url": "https://glygen.org/publication/PubMed/24558442", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24561239", "url": "https://glygen.org/publication/PubMed/24561239", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24562770", "url": "https://glygen.org/publication/PubMed/24562770", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24571487", "url": "https://glygen.org/publication/PubMed/24571487", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24581231", "url": "https://glygen.org/publication/PubMed/24581231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24585214", "url": "https://glygen.org/publication/PubMed/24585214", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24605828", "url": "https://glygen.org/publication/PubMed/24605828", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24611062", "url": "https://glygen.org/publication/PubMed/24611062", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24612393", "url": "https://glygen.org/publication/PubMed/24612393", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24613353", "url": "https://glygen.org/publication/PubMed/24613353", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24615340", "url": "https://glygen.org/publication/PubMed/24615340", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24618420", "url": "https://glygen.org/publication/PubMed/24618420", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24625973", "url": "https://glygen.org/publication/PubMed/24625973", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24627641", "url": "https://glygen.org/publication/PubMed/24627641", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24628780", "url": "https://glygen.org/publication/PubMed/24628780", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24650522", "url": "https://glygen.org/publication/PubMed/24650522", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24654606", "url": "https://glygen.org/publication/PubMed/24654606", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24662831", "url": "https://glygen.org/publication/PubMed/24662831", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24669186", "url": "https://glygen.org/publication/PubMed/24669186", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24670043", "url": "https://glygen.org/publication/PubMed/24670043", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24675668", "url": "https://glygen.org/publication/PubMed/24675668", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24676635", "url": "https://glygen.org/publication/PubMed/24676635", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24699303", "url": "https://glygen.org/publication/PubMed/24699303", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24705275", "url": "https://glygen.org/publication/PubMed/24705275", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24727660", "url": "https://glygen.org/publication/PubMed/24727660", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24729100", "url": "https://glygen.org/publication/PubMed/24729100", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24743054", "url": "https://glygen.org/publication/PubMed/24743054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24759784", "url": "https://glygen.org/publication/PubMed/24759784", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24797310", "url": "https://glygen.org/publication/PubMed/24797310", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24797432", "url": "https://glygen.org/publication/PubMed/24797432", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24797434", "url": "https://glygen.org/publication/PubMed/24797434", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24804226", "url": "https://glygen.org/publication/PubMed/24804226", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24804268", "url": "https://glygen.org/publication/PubMed/24804268", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24810113", "url": "https://glygen.org/publication/PubMed/24810113", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24810758", "url": "https://glygen.org/publication/PubMed/24810758", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24812621", "url": "https://glygen.org/publication/PubMed/24812621", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24844349", "url": "https://glygen.org/publication/PubMed/24844349", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24868319", "url": "https://glygen.org/publication/PubMed/24868319", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24878056", "url": "https://glygen.org/publication/PubMed/24878056", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24899686", "url": "https://glygen.org/publication/PubMed/24899686", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24900620", "url": "https://glygen.org/publication/PubMed/24900620", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24905095", "url": "https://glygen.org/publication/PubMed/24905095", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24905466", "url": "https://glygen.org/publication/PubMed/24905466", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24918199", "url": "https://glygen.org/publication/PubMed/24918199", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24927123", "url": "https://glygen.org/publication/PubMed/24927123", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24933731", "url": "https://glygen.org/publication/PubMed/24933731", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24941119", "url": "https://glygen.org/publication/PubMed/24941119", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24944883", "url": "https://glygen.org/publication/PubMed/24944883", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24952732", "url": "https://glygen.org/publication/PubMed/24952732", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24955034", "url": "https://glygen.org/publication/PubMed/24955034", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24977346", "url": "https://glygen.org/publication/PubMed/24977346", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24979261", "url": "https://glygen.org/publication/PubMed/24979261", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24979463", "url": "https://glygen.org/publication/PubMed/24979463", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24984001", "url": "https://glygen.org/publication/PubMed/24984001", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24992302", "url": "https://glygen.org/publication/PubMed/24992302", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24996256", "url": "https://glygen.org/publication/PubMed/24996256", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25003810", "url": "https://glygen.org/publication/PubMed/25003810", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25026292", "url": "https://glygen.org/publication/PubMed/25026292", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25035961", "url": "https://glygen.org/publication/PubMed/25035961", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25040157", "url": "https://glygen.org/publication/PubMed/25040157", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25058613", "url": "https://glygen.org/publication/PubMed/25058613", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25063029", "url": "https://glygen.org/publication/PubMed/25063029", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25071759", "url": "https://glygen.org/publication/PubMed/25071759", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25085593", "url": "https://glygen.org/publication/PubMed/25085593", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25088800", "url": "https://glygen.org/publication/PubMed/25088800", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25096023", "url": "https://glygen.org/publication/PubMed/25096023", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25098276", "url": "https://glygen.org/publication/PubMed/25098276", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25109354", "url": "https://glygen.org/publication/PubMed/25109354", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25110549", "url": "https://glygen.org/publication/PubMed/25110549", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25111376", "url": "https://glygen.org/publication/PubMed/25111376", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25122478", "url": "https://glygen.org/publication/PubMed/25122478", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25136826", "url": "https://glygen.org/publication/PubMed/25136826", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25152245", "url": "https://glygen.org/publication/PubMed/25152245", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25153728", "url": "https://glygen.org/publication/PubMed/25153728", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25168062", "url": "https://glygen.org/publication/PubMed/25168062", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25177796", "url": "https://glygen.org/publication/PubMed/25177796", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25179402", "url": "https://glygen.org/publication/PubMed/25179402", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25190803", "url": "https://glygen.org/publication/PubMed/25190803", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25191523", "url": "https://glygen.org/publication/PubMed/25191523", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25196260", "url": "https://glygen.org/publication/PubMed/25196260", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25212826", "url": "https://glygen.org/publication/PubMed/25212826", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25221952", "url": "https://glygen.org/publication/PubMed/25221952", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25228590", "url": "https://glygen.org/publication/PubMed/25228590", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25231347", "url": "https://glygen.org/publication/PubMed/25231347", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25231727", "url": "https://glygen.org/publication/PubMed/25231727", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25243120", "url": "https://glygen.org/publication/PubMed/25243120", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25243186", "url": "https://glygen.org/publication/PubMed/25243186", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25245332", "url": "https://glygen.org/publication/PubMed/25245332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25248616", "url": "https://glygen.org/publication/PubMed/25248616", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25257523", "url": "https://glygen.org/publication/PubMed/25257523", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25273559", "url": "https://glygen.org/publication/PubMed/25273559", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25277204", "url": "https://glygen.org/publication/PubMed/25277204", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25283550", "url": "https://glygen.org/publication/PubMed/25283550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25288334", "url": "https://glygen.org/publication/PubMed/25288334", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25295093", "url": "https://glygen.org/publication/PubMed/25295093", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25296973", "url": "https://glygen.org/publication/PubMed/25296973", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25296981", "url": "https://glygen.org/publication/PubMed/25296981", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25302072", "url": "https://glygen.org/publication/PubMed/25302072", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25306901", "url": "https://glygen.org/publication/PubMed/25306901", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25311506", "url": "https://glygen.org/publication/PubMed/25311506", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25311616", "url": "https://glygen.org/publication/PubMed/25311616", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25313141", "url": "https://glygen.org/publication/PubMed/25313141", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25329617", "url": "https://glygen.org/publication/PubMed/25329617", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25339152", "url": "https://glygen.org/publication/PubMed/25339152", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25344208", "url": "https://glygen.org/publication/PubMed/25344208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25352995", "url": "https://glygen.org/publication/PubMed/25352995", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25360740", "url": "https://glygen.org/publication/PubMed/25360740", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25365190", "url": "https://glygen.org/publication/PubMed/25365190", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25365322", "url": "https://glygen.org/publication/PubMed/25365322", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25370471", "url": "https://glygen.org/publication/PubMed/25370471", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25373319", "url": "https://glygen.org/publication/PubMed/25373319", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25375133", "url": "https://glygen.org/publication/PubMed/25375133", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25376904", "url": "https://glygen.org/publication/PubMed/25376904", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25385184", "url": "https://glygen.org/publication/PubMed/25385184", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25388642", "url": "https://glygen.org/publication/PubMed/25388642", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25392303", "url": "https://glygen.org/publication/PubMed/25392303", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25398131", "url": "https://glygen.org/publication/PubMed/25398131", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25400915", "url": "https://glygen.org/publication/PubMed/25400915", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25409876", "url": "https://glygen.org/publication/PubMed/25409876", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25412313", "url": "https://glygen.org/publication/PubMed/25412313", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25424429", "url": "https://glygen.org/publication/PubMed/25424429", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25432075", "url": "https://glygen.org/publication/PubMed/25432075", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25454348", "url": "https://glygen.org/publication/PubMed/25454348", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25456951", "url": "https://glygen.org/publication/PubMed/25456951", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25466244", "url": "https://glygen.org/publication/PubMed/25466244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25483727", "url": "https://glygen.org/publication/PubMed/25483727", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25486524", "url": "https://glygen.org/publication/PubMed/25486524", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25490861", "url": "https://glygen.org/publication/PubMed/25490861", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25494980", "url": "https://glygen.org/publication/PubMed/25494980", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25495560", "url": "https://glygen.org/publication/PubMed/25495560", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25499217", "url": "https://glygen.org/publication/PubMed/25499217", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25502934", "url": "https://glygen.org/publication/PubMed/25502934", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25504433", "url": "https://glygen.org/publication/PubMed/25504433", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25521510", "url": "https://glygen.org/publication/PubMed/25521510", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25527452", "url": "https://glygen.org/publication/PubMed/25527452", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25528216", "url": "https://glygen.org/publication/PubMed/25528216", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25530715", "url": "https://glygen.org/publication/PubMed/25530715", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25531880", "url": "https://glygen.org/publication/PubMed/25531880", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25538040", "url": "https://glygen.org/publication/PubMed/25538040", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25543088", "url": "https://glygen.org/publication/PubMed/25543088", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25544763", "url": "https://glygen.org/publication/PubMed/25544763", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25551293", "url": "https://glygen.org/publication/PubMed/25551293", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25559258", "url": "https://glygen.org/publication/PubMed/25559258", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25564612", "url": "https://glygen.org/publication/PubMed/25564612", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25569743", "url": "https://glygen.org/publication/PubMed/25569743", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25575302", "url": "https://glygen.org/publication/PubMed/25575302", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25575882", "url": "https://glygen.org/publication/PubMed/25575882", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25590801", "url": "https://glygen.org/publication/PubMed/25590801", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25596738", "url": "https://glygen.org/publication/PubMed/25596738", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25596739", "url": "https://glygen.org/publication/PubMed/25596739", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25596747", "url": "https://glygen.org/publication/PubMed/25596747", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25603236", "url": "https://glygen.org/publication/PubMed/25603236", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25603341", "url": "https://glygen.org/publication/PubMed/25603341", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25622969", "url": "https://glygen.org/publication/PubMed/25622969", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25623055", "url": "https://glygen.org/publication/PubMed/25623055", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25624750", "url": "https://glygen.org/publication/PubMed/25624750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25639875", "url": "https://glygen.org/publication/PubMed/25639875", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25640278", "url": "https://glygen.org/publication/PubMed/25640278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25649767", "url": "https://glygen.org/publication/PubMed/25649767", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25654224", "url": "https://glygen.org/publication/PubMed/25654224", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25658447", "url": "https://glygen.org/publication/PubMed/25658447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25663935", "url": "https://glygen.org/publication/PubMed/25663935", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25673820", "url": "https://glygen.org/publication/PubMed/25673820", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25674039", "url": "https://glygen.org/publication/PubMed/25674039", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25686830", "url": "https://glygen.org/publication/PubMed/25686830", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25687330", "url": "https://glygen.org/publication/PubMed/25687330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25687876", "url": "https://glygen.org/publication/PubMed/25687876", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25691053", "url": "https://glygen.org/publication/PubMed/25691053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25701004", "url": "https://glygen.org/publication/PubMed/25701004", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25706943", "url": "https://glygen.org/publication/PubMed/25706943", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25714596", "url": "https://glygen.org/publication/PubMed/25714596", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25717186", "url": "https://glygen.org/publication/PubMed/25717186", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25722288", "url": "https://glygen.org/publication/PubMed/25722288", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25738366", "url": "https://glygen.org/publication/PubMed/25738366", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25744065", "url": "https://glygen.org/publication/PubMed/25744065", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25749514", "url": "https://glygen.org/publication/PubMed/25749514", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25749517", "url": "https://glygen.org/publication/PubMed/25749517", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25758096", "url": "https://glygen.org/publication/PubMed/25758096", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25760103", "url": "https://glygen.org/publication/PubMed/25760103", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25761241", "url": "https://glygen.org/publication/PubMed/25761241", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25762619", "url": "https://glygen.org/publication/PubMed/25762619", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25766325", "url": "https://glygen.org/publication/PubMed/25766325", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25767601", "url": "https://glygen.org/publication/PubMed/25767601", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25784113", "url": "https://glygen.org/publication/PubMed/25784113", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25792811", "url": "https://glygen.org/publication/PubMed/25792811", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25793261", "url": "https://glygen.org/publication/PubMed/25793261", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25793983", "url": "https://glygen.org/publication/PubMed/25793983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25797048", "url": "https://glygen.org/publication/PubMed/25797048", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25797258", "url": "https://glygen.org/publication/PubMed/25797258", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25805567", "url": "https://glygen.org/publication/PubMed/25805567", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25807261", "url": "https://glygen.org/publication/PubMed/25807261", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25812014", "url": "https://glygen.org/publication/PubMed/25812014", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25815363", "url": "https://glygen.org/publication/PubMed/25815363", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25823655", "url": "https://glygen.org/publication/PubMed/25823655", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25838434", "url": "https://glygen.org/publication/PubMed/25838434", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25841779", "url": "https://glygen.org/publication/PubMed/25841779", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25849580", "url": "https://glygen.org/publication/PubMed/25849580", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25851605", "url": "https://glygen.org/publication/PubMed/25851605", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25869208", "url": "https://glygen.org/publication/PubMed/25869208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25876175", "url": "https://glygen.org/publication/PubMed/25876175", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25888955", "url": "https://glygen.org/publication/PubMed/25888955", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25889839", "url": "https://glygen.org/publication/PubMed/25889839", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25894595", "url": "https://glygen.org/publication/PubMed/25894595", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25898313", "url": "https://glygen.org/publication/PubMed/25898313", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25902785", "url": "https://glygen.org/publication/PubMed/25902785", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25910265", "url": "https://glygen.org/publication/PubMed/25910265", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25912234", "url": "https://glygen.org/publication/PubMed/25912234", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25915159", "url": "https://glygen.org/publication/PubMed/25915159", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25915946", "url": "https://glygen.org/publication/PubMed/25915946", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25925728", "url": "https://glygen.org/publication/PubMed/25925728", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25926716", "url": "https://glygen.org/publication/PubMed/25926716", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25933112", "url": "https://glygen.org/publication/PubMed/25933112", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25935150", "url": "https://glygen.org/publication/PubMed/25935150", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25940338", "url": "https://glygen.org/publication/PubMed/25940338", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25943101", "url": "https://glygen.org/publication/PubMed/25943101", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25961827", "url": "https://glygen.org/publication/PubMed/25961827", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25962159", "url": "https://glygen.org/publication/PubMed/25962159", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25963408", "url": "https://glygen.org/publication/PubMed/25963408", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25965345", "url": "https://glygen.org/publication/PubMed/25965345", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25965823", "url": "https://glygen.org/publication/PubMed/25965823", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25965829", "url": "https://glygen.org/publication/PubMed/25965829", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25966642", "url": "https://glygen.org/publication/PubMed/25966642", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25969668", "url": "https://glygen.org/publication/PubMed/25969668", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25970784", "url": "https://glygen.org/publication/PubMed/25970784", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25974307", "url": "https://glygen.org/publication/PubMed/25974307", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25978653", "url": "https://glygen.org/publication/PubMed/25978653", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25980493", "url": "https://glygen.org/publication/PubMed/25980493", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25997619", "url": "https://glygen.org/publication/PubMed/25997619", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25997832", "url": "https://glygen.org/publication/PubMed/25997832", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25999352", "url": "https://glygen.org/publication/PubMed/25999352", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26014912", "url": "https://glygen.org/publication/PubMed/26014912", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26023079", "url": "https://glygen.org/publication/PubMed/26023079", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26023089", "url": "https://glygen.org/publication/PubMed/26023089", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26025205", "url": "https://glygen.org/publication/PubMed/26025205", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26033966", "url": "https://glygen.org/publication/PubMed/26033966", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26039541", "url": "https://glygen.org/publication/PubMed/26039541", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26043921", "url": "https://glygen.org/publication/PubMed/26043921", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26046303", "url": "https://glygen.org/publication/PubMed/26046303", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26053093", "url": "https://glygen.org/publication/PubMed/26053093", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26053620", "url": "https://glygen.org/publication/PubMed/26053620", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26061531", "url": "https://glygen.org/publication/PubMed/26061531", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26065894", "url": "https://glygen.org/publication/PubMed/26065894", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26068789", "url": "https://glygen.org/publication/PubMed/26068789", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26071201", "url": "https://glygen.org/publication/PubMed/26071201", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26073086", "url": "https://glygen.org/publication/PubMed/26073086", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26076587", "url": "https://glygen.org/publication/PubMed/26076587", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26078792", "url": "https://glygen.org/publication/PubMed/26078792", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26093985", "url": "https://glygen.org/publication/PubMed/26093985", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26104298", "url": "https://glygen.org/publication/PubMed/26104298", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26104664", "url": "https://glygen.org/publication/PubMed/26104664", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26110874", "url": "https://glygen.org/publication/PubMed/26110874", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26111001", "url": "https://glygen.org/publication/PubMed/26111001", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26111057", "url": "https://glygen.org/publication/PubMed/26111057", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26115086", "url": "https://glygen.org/publication/PubMed/26115086", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26121251", "url": "https://glygen.org/publication/PubMed/26121251", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26121643", "url": "https://glygen.org/publication/PubMed/26121643", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26124328", "url": "https://glygen.org/publication/PubMed/26124328", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26125228", "url": "https://glygen.org/publication/PubMed/26125228", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26126266", "url": "https://glygen.org/publication/PubMed/26126266", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26130968", "url": "https://glygen.org/publication/PubMed/26130968", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26134617", "url": "https://glygen.org/publication/PubMed/26134617", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26137449", "url": "https://glygen.org/publication/PubMed/26137449", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26137586", "url": "https://glygen.org/publication/PubMed/26137586", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26146988", "url": "https://glygen.org/publication/PubMed/26146988", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26151347", "url": "https://glygen.org/publication/PubMed/26151347", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26174628", "url": "https://glygen.org/publication/PubMed/26174628", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26178819", "url": "https://glygen.org/publication/PubMed/26178819", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26193288", "url": "https://glygen.org/publication/PubMed/26193288", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26198194", "url": "https://glygen.org/publication/PubMed/26198194", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26199094", "url": "https://glygen.org/publication/PubMed/26199094", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26204252", "url": "https://glygen.org/publication/PubMed/26204252", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26208478", "url": "https://glygen.org/publication/PubMed/26208478", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26212441", "url": "https://glygen.org/publication/PubMed/26212441", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26217307", "url": "https://glygen.org/publication/PubMed/26217307", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26222278", "url": "https://glygen.org/publication/PubMed/26222278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26235620", "url": "https://glygen.org/publication/PubMed/26235620", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26242183", "url": "https://glygen.org/publication/PubMed/26242183", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26243309", "url": "https://glygen.org/publication/PubMed/26243309", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26244501", "url": "https://glygen.org/publication/PubMed/26244501", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26245346", "url": "https://glygen.org/publication/PubMed/26245346", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26246284", "url": "https://glygen.org/publication/PubMed/26246284", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26246598", "url": "https://glygen.org/publication/PubMed/26246598", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26247730", "url": "https://glygen.org/publication/PubMed/26247730", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26248315", "url": "https://glygen.org/publication/PubMed/26248315", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26252009", "url": "https://glygen.org/publication/PubMed/26252009", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26260992", "url": "https://glygen.org/publication/PubMed/26260992", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26263002", "url": "https://glygen.org/publication/PubMed/26263002", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26269411", "url": "https://glygen.org/publication/PubMed/26269411", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26290457", "url": "https://glygen.org/publication/PubMed/26290457", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26295469", "url": "https://glygen.org/publication/PubMed/26295469", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26295809", "url": "https://glygen.org/publication/PubMed/26295809", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26297026", "url": "https://glygen.org/publication/PubMed/26297026", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26297582", "url": "https://glygen.org/publication/PubMed/26297582", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26300786", "url": "https://glygen.org/publication/PubMed/26300786", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26304753", "url": "https://glygen.org/publication/PubMed/26304753", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26311050", "url": "https://glygen.org/publication/PubMed/26311050", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26313911", "url": "https://glygen.org/publication/PubMed/26313911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26317515", "url": "https://glygen.org/publication/PubMed/26317515", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26323834", "url": "https://glygen.org/publication/PubMed/26323834", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26325371", "url": "https://glygen.org/publication/PubMed/26325371", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26345302", "url": "https://glygen.org/publication/PubMed/26345302", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26345416", "url": "https://glygen.org/publication/PubMed/26345416", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26345496", "url": "https://glygen.org/publication/PubMed/26345496", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26354606", "url": "https://glygen.org/publication/PubMed/26354606", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26356562", "url": "https://glygen.org/publication/PubMed/26356562", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26359868", "url": "https://glygen.org/publication/PubMed/26359868", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26377961", "url": "https://glygen.org/publication/PubMed/26377961", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26378810", "url": "https://glygen.org/publication/PubMed/26378810", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26379195", "url": "https://glygen.org/publication/PubMed/26379195", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26388843", "url": "https://glygen.org/publication/PubMed/26388843", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26402468", "url": "https://glygen.org/publication/PubMed/26402468", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26402673", "url": "https://glygen.org/publication/PubMed/26402673", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26408176", "url": "https://glygen.org/publication/PubMed/26408176", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26415504", "url": "https://glygen.org/publication/PubMed/26415504", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26418879", "url": "https://glygen.org/publication/PubMed/26418879", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26436418", "url": "https://glygen.org/publication/PubMed/26436418", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26437242", "url": "https://glygen.org/publication/PubMed/26437242", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26440416", "url": "https://glygen.org/publication/PubMed/26440416", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26446840", "url": "https://glygen.org/publication/PubMed/26446840", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26452025", "url": "https://glygen.org/publication/PubMed/26452025", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26465605", "url": "https://glygen.org/publication/PubMed/26465605", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26475209", "url": "https://glygen.org/publication/PubMed/26475209", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26483070", "url": "https://glygen.org/publication/PubMed/26483070", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26485768", "url": "https://glygen.org/publication/PubMed/26485768", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26489763", "url": "https://glygen.org/publication/PubMed/26489763", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26496029", "url": "https://glygen.org/publication/PubMed/26496029", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26496360", "url": "https://glygen.org/publication/PubMed/26496360", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26497580", "url": "https://glygen.org/publication/PubMed/26497580", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26497682", "url": "https://glygen.org/publication/PubMed/26497682", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26500282", "url": "https://glygen.org/publication/PubMed/26500282", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26503469", "url": "https://glygen.org/publication/PubMed/26503469", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26506516", "url": "https://glygen.org/publication/PubMed/26506516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26515499", "url": "https://glygen.org/publication/PubMed/26515499", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26517508", "url": "https://glygen.org/publication/PubMed/26517508", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26528819", "url": "https://glygen.org/publication/PubMed/26528819", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26535060", "url": "https://glygen.org/publication/PubMed/26535060", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26547929", "url": "https://glygen.org/publication/PubMed/26547929", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26551880", "url": "https://glygen.org/publication/PubMed/26551880", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26557719", "url": "https://glygen.org/publication/PubMed/26557719", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26563429", "url": "https://glygen.org/publication/PubMed/26563429", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26565813", "url": "https://glygen.org/publication/PubMed/26565813", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26573229", "url": "https://glygen.org/publication/PubMed/26573229", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26580610", "url": "https://glygen.org/publication/PubMed/26580610", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26582390", "url": "https://glygen.org/publication/PubMed/26582390", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26600389", "url": "https://glygen.org/publication/PubMed/26600389", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26613407", "url": "https://glygen.org/publication/PubMed/26613407", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26619345", "url": "https://glygen.org/publication/PubMed/26619345", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26622940", "url": "https://glygen.org/publication/PubMed/26622940", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26635480", "url": "https://glygen.org/publication/PubMed/26635480", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26646023", "url": "https://glygen.org/publication/PubMed/26646023", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26657290", "url": "https://glygen.org/publication/PubMed/26657290", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26657292", "url": "https://glygen.org/publication/PubMed/26657292", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26657992", "url": "https://glygen.org/publication/PubMed/26657992", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26674329", "url": "https://glygen.org/publication/PubMed/26674329", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26682007", "url": "https://glygen.org/publication/PubMed/26682007", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26686089", "url": "https://glygen.org/publication/PubMed/26686089", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26700664", "url": "https://glygen.org/publication/PubMed/26700664", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26708293", "url": "https://glygen.org/publication/PubMed/26708293", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26713606", "url": "https://glygen.org/publication/PubMed/26713606", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26714756", "url": "https://glygen.org/publication/PubMed/26714756", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26716408", "url": "https://glygen.org/publication/PubMed/26716408", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26716652", "url": "https://glygen.org/publication/PubMed/26716652", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26741489", "url": "https://glygen.org/publication/PubMed/26741489", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26746999", "url": "https://glygen.org/publication/PubMed/26746999", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26751215", "url": "https://glygen.org/publication/PubMed/26751215", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26756219", "url": "https://glygen.org/publication/PubMed/26756219", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26761017", "url": "https://glygen.org/publication/PubMed/26761017", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26762111", "url": "https://glygen.org/publication/PubMed/26762111", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26784926", "url": "https://glygen.org/publication/PubMed/26784926", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26801096", "url": "https://glygen.org/publication/PubMed/26801096", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26821070", "url": "https://glygen.org/publication/PubMed/26821070", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26821351", "url": "https://glygen.org/publication/PubMed/26821351", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26825989", "url": "https://glygen.org/publication/PubMed/26825989", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26832662", "url": "https://glygen.org/publication/PubMed/26832662", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26839558", "url": "https://glygen.org/publication/PubMed/26839558", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26840085", "url": "https://glygen.org/publication/PubMed/26840085", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26840401", "url": "https://glygen.org/publication/PubMed/26840401", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26848618", "url": "https://glygen.org/publication/PubMed/26848618", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26857837", "url": "https://glygen.org/publication/PubMed/26857837", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26859575", "url": "https://glygen.org/publication/PubMed/26859575", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26868304", "url": "https://glygen.org/publication/PubMed/26868304", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26876672", "url": "https://glygen.org/publication/PubMed/26876672", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26877709", "url": "https://glygen.org/publication/PubMed/26877709", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26879559", "url": "https://glygen.org/publication/PubMed/26879559", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26879868", "url": "https://glygen.org/publication/PubMed/26879868", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26883103", "url": "https://glygen.org/publication/PubMed/26883103", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26891914", "url": "https://glygen.org/publication/PubMed/26891914", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26901182", "url": "https://glygen.org/publication/PubMed/26901182", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26903300", "url": "https://glygen.org/publication/PubMed/26903300", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26909320", "url": "https://glygen.org/publication/PubMed/26909320", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26912358", "url": "https://glygen.org/publication/PubMed/26912358", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26913805", "url": "https://glygen.org/publication/PubMed/26913805", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26919095", "url": "https://glygen.org/publication/PubMed/26919095", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26919097", "url": "https://glygen.org/publication/PubMed/26919097", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26919102", "url": "https://glygen.org/publication/PubMed/26919102", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26919105", "url": "https://glygen.org/publication/PubMed/26919105", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26931119", "url": "https://glygen.org/publication/PubMed/26931119", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26937641", "url": "https://glygen.org/publication/PubMed/26937641", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26940018", "url": "https://glygen.org/publication/PubMed/26940018", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26942872", "url": "https://glygen.org/publication/PubMed/26942872", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26945062", "url": "https://glygen.org/publication/PubMed/26945062", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26958085", "url": "https://glygen.org/publication/PubMed/26958085", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26959555", "url": "https://glygen.org/publication/PubMed/26959555", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26959890", "url": "https://glygen.org/publication/PubMed/26959890", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26974310", "url": "https://glygen.org/publication/PubMed/26974310", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26974342", "url": "https://glygen.org/publication/PubMed/26974342", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26988603", "url": "https://glygen.org/publication/PubMed/26988603", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26988652", "url": "https://glygen.org/publication/PubMed/26988652", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26992218", "url": "https://glygen.org/publication/PubMed/26992218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26992219", "url": "https://glygen.org/publication/PubMed/26992219", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26993775", "url": "https://glygen.org/publication/PubMed/26993775", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26994872", "url": "https://glygen.org/publication/PubMed/26994872", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26998277", "url": "https://glygen.org/publication/PubMed/26998277", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27000941", "url": "https://glygen.org/publication/PubMed/27000941", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27002278", "url": "https://glygen.org/publication/PubMed/27002278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27004402", "url": "https://glygen.org/publication/PubMed/27004402", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27004406", "url": "https://glygen.org/publication/PubMed/27004406", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27004407", "url": "https://glygen.org/publication/PubMed/27004407", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27009203", "url": "https://glygen.org/publication/PubMed/27009203", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27012197", "url": "https://glygen.org/publication/PubMed/27012197", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27014421", "url": "https://glygen.org/publication/PubMed/27014421", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27015122", "url": "https://glygen.org/publication/PubMed/27015122", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27015152", "url": "https://glygen.org/publication/PubMed/27015152", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27020593", "url": "https://glygen.org/publication/PubMed/27020593", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27026523", "url": "https://glygen.org/publication/PubMed/27026523", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27027448", "url": "https://glygen.org/publication/PubMed/27027448", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27031247", "url": "https://glygen.org/publication/PubMed/27031247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27047993", "url": "https://glygen.org/publication/PubMed/27047993", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27048245", "url": "https://glygen.org/publication/PubMed/27048245", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27053161", "url": "https://glygen.org/publication/PubMed/27053161", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27054717", "url": "https://glygen.org/publication/PubMed/27054717", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27074558", "url": "https://glygen.org/publication/PubMed/27074558", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27076174", "url": "https://glygen.org/publication/PubMed/27076174", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27078847", "url": "https://glygen.org/publication/PubMed/27078847", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27084428", "url": "https://glygen.org/publication/PubMed/27084428", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27091625", "url": "https://glygen.org/publication/PubMed/27091625", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27099352", "url": "https://glygen.org/publication/PubMed/27099352", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27102434", "url": "https://glygen.org/publication/PubMed/27102434", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27119232", "url": "https://glygen.org/publication/PubMed/27119232", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27121055", "url": "https://glygen.org/publication/PubMed/27121055", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27121065", "url": "https://glygen.org/publication/PubMed/27121065", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27137757", "url": "https://glygen.org/publication/PubMed/27137757", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27138223", "url": "https://glygen.org/publication/PubMed/27138223", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27152946", "url": "https://glygen.org/publication/PubMed/27152946", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27163678", "url": "https://glygen.org/publication/PubMed/27163678", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27176505", "url": "https://glygen.org/publication/PubMed/27176505", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27180807", "url": "https://glygen.org/publication/PubMed/27180807", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27187380", "url": "https://glygen.org/publication/PubMed/27187380", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27191994", "url": "https://glygen.org/publication/PubMed/27191994", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27192118", "url": "https://glygen.org/publication/PubMed/27192118", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27200496", "url": "https://glygen.org/publication/PubMed/27200496", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27211495", "url": "https://glygen.org/publication/PubMed/27211495", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27220846", "url": "https://glygen.org/publication/PubMed/27220846", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27223432", "url": "https://glygen.org/publication/PubMed/27223432", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27239959", "url": "https://glygen.org/publication/PubMed/27239959", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27262235", "url": "https://glygen.org/publication/PubMed/27262235", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27274989", "url": "https://glygen.org/publication/PubMed/27274989", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27283899", "url": "https://glygen.org/publication/PubMed/27283899", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27285760", "url": "https://glygen.org/publication/PubMed/27285760", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27285995", "url": "https://glygen.org/publication/PubMed/27285995", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27290989", "url": "https://glygen.org/publication/PubMed/27290989", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27294151", "url": "https://glygen.org/publication/PubMed/27294151", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27294206", "url": "https://glygen.org/publication/PubMed/27294206", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27302366", "url": "https://glygen.org/publication/PubMed/27302366", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27304189", "url": "https://glygen.org/publication/PubMed/27304189", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27304216", "url": "https://glygen.org/publication/PubMed/27304216", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27308350", "url": "https://glygen.org/publication/PubMed/27308350", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27323778", "url": "https://glygen.org/publication/PubMed/27323778", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27323822", "url": "https://glygen.org/publication/PubMed/27323822", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27324222", "url": "https://glygen.org/publication/PubMed/27324222", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27328758", "url": "https://glygen.org/publication/PubMed/27328758", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27346647", "url": "https://glygen.org/publication/PubMed/27346647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27374081", "url": "https://glygen.org/publication/PubMed/27374081", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27379204", "url": "https://glygen.org/publication/PubMed/27379204", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27385333", "url": "https://glygen.org/publication/PubMed/27385333", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27387559", "url": "https://glygen.org/publication/PubMed/27387559", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27390173", "url": "https://glygen.org/publication/PubMed/27390173", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27391151", "url": "https://glygen.org/publication/PubMed/27391151", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27391443", "url": "https://glygen.org/publication/PubMed/27391443", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27412013", "url": "https://glygen.org/publication/PubMed/27412013", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27422524", "url": "https://glygen.org/publication/PubMed/27422524", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27447863", "url": "https://glygen.org/publication/PubMed/27447863", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27449083", "url": "https://glygen.org/publication/PubMed/27449083", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27451907", "url": "https://glygen.org/publication/PubMed/27451907", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27465688", "url": "https://glygen.org/publication/PubMed/27465688", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27467927", "url": "https://glygen.org/publication/PubMed/27467927", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27481183", "url": "https://glygen.org/publication/PubMed/27481183", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27481935", "url": "https://glygen.org/publication/PubMed/27481935", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27484721", "url": "https://glygen.org/publication/PubMed/27484721", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27486771", "url": "https://glygen.org/publication/PubMed/27486771", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27487122", "url": "https://glygen.org/publication/PubMed/27487122", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27487130", "url": "https://glygen.org/publication/PubMed/27487130", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27487157", "url": "https://glygen.org/publication/PubMed/27487157", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27489350", "url": "https://glygen.org/publication/PubMed/27489350", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27494022", "url": "https://glygen.org/publication/PubMed/27494022", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27494849", "url": "https://glygen.org/publication/PubMed/27494849", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27494886", "url": "https://glygen.org/publication/PubMed/27494886", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27494895", "url": "https://glygen.org/publication/PubMed/27494895", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27499633", "url": "https://glygen.org/publication/PubMed/27499633", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27506466", "url": "https://glygen.org/publication/PubMed/27506466", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27533087", "url": "https://glygen.org/publication/PubMed/27533087", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27543462", "url": "https://glygen.org/publication/PubMed/27543462", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27548722", "url": "https://glygen.org/publication/PubMed/27548722", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27551486", "url": "https://glygen.org/publication/PubMed/27551486", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27561791", "url": "https://glygen.org/publication/PubMed/27561791", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27566939", "url": "https://glygen.org/publication/PubMed/27566939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27601656", "url": "https://glygen.org/publication/PubMed/27601656", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27602585", "url": "https://glygen.org/publication/PubMed/27602585", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27602766", "url": "https://glygen.org/publication/PubMed/27602766", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27611696", "url": "https://glygen.org/publication/PubMed/27611696", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27613837", "url": "https://glygen.org/publication/PubMed/27613837", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27622707", "url": "https://glygen.org/publication/PubMed/27622707", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27627109", "url": "https://glygen.org/publication/PubMed/27627109", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27627761", "url": "https://glygen.org/publication/PubMed/27627761", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27634878", "url": "https://glygen.org/publication/PubMed/27634878", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27636107", "url": "https://glygen.org/publication/PubMed/27636107", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27642646", "url": "https://glygen.org/publication/PubMed/27642646", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27650895", "url": "https://glygen.org/publication/PubMed/27650895", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27652381", "url": "https://glygen.org/publication/PubMed/27652381", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27654866", "url": "https://glygen.org/publication/PubMed/27654866", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27656263", "url": "https://glygen.org/publication/PubMed/27656263", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27659207", "url": "https://glygen.org/publication/PubMed/27659207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27659528", "url": "https://glygen.org/publication/PubMed/27659528", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27661108", "url": "https://glygen.org/publication/PubMed/27661108", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27680387", "url": "https://glygen.org/publication/PubMed/27680387", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27688096", "url": "https://glygen.org/publication/PubMed/27688096", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27694961", "url": "https://glygen.org/publication/PubMed/27694961", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27694970", "url": "https://glygen.org/publication/PubMed/27694970", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27697523", "url": "https://glygen.org/publication/PubMed/27697523", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27698389", "url": "https://glygen.org/publication/PubMed/27698389", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27698667", "url": "https://glygen.org/publication/PubMed/27698667", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27757122", "url": "https://glygen.org/publication/PubMed/27757122", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27762303", "url": "https://glygen.org/publication/PubMed/27762303", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27764189", "url": "https://glygen.org/publication/PubMed/27764189", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27768588", "url": "https://glygen.org/publication/PubMed/27768588", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27769069", "url": "https://glygen.org/publication/PubMed/27769069", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27776559", "url": "https://glygen.org/publication/PubMed/27776559", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27784766", "url": "https://glygen.org/publication/PubMed/27784766", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27800505", "url": "https://glygen.org/publication/PubMed/27800505", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27807598", "url": "https://glygen.org/publication/PubMed/27807598", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27809307", "url": "https://glygen.org/publication/PubMed/27809307", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27811362", "url": "https://glygen.org/publication/PubMed/27811362", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27829222", "url": "https://glygen.org/publication/PubMed/27829222", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27846451", "url": "https://glygen.org/publication/PubMed/27846451", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27849011", "url": "https://glygen.org/publication/PubMed/27849011", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27853260", "url": "https://glygen.org/publication/PubMed/27853260", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27863406", "url": "https://glygen.org/publication/PubMed/27863406", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27866093", "url": "https://glygen.org/publication/PubMed/27866093", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27888634", "url": "https://glygen.org/publication/PubMed/27888634", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27894090", "url": "https://glygen.org/publication/PubMed/27894090", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27896950", "url": "https://glygen.org/publication/PubMed/27896950", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27900025", "url": "https://glygen.org/publication/PubMed/27900025", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27901111", "url": "https://glygen.org/publication/PubMed/27901111", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27919290", "url": "https://glygen.org/publication/PubMed/27919290", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27922982", "url": "https://glygen.org/publication/PubMed/27922982", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27966531", "url": "https://glygen.org/publication/PubMed/27966531", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27974696", "url": "https://glygen.org/publication/PubMed/27974696", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27988337", "url": "https://glygen.org/publication/PubMed/27988337", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27992958", "url": "https://glygen.org/publication/PubMed/27992958", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28002802", "url": "https://glygen.org/publication/PubMed/28002802", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28003335", "url": "https://glygen.org/publication/PubMed/28003335", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28008153", "url": "https://glygen.org/publication/PubMed/28008153", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28008155", "url": "https://glygen.org/publication/PubMed/28008155", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28025104", "url": "https://glygen.org/publication/PubMed/28025104", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28035062", "url": "https://glygen.org/publication/PubMed/28035062", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28035333", "url": "https://glygen.org/publication/PubMed/28035333", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28052020", "url": "https://glygen.org/publication/PubMed/28052020", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28056899", "url": "https://glygen.org/publication/PubMed/28056899", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28061880", "url": "https://glygen.org/publication/PubMed/28061880", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28067284", "url": "https://glygen.org/publication/PubMed/28067284", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28072855", "url": "https://glygen.org/publication/PubMed/28072855", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28075016", "url": "https://glygen.org/publication/PubMed/28075016", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28076324", "url": "https://glygen.org/publication/PubMed/28076324", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28096970", "url": "https://glygen.org/publication/PubMed/28096970", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28107519", "url": "https://glygen.org/publication/PubMed/28107519", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28123351", "url": "https://glygen.org/publication/PubMed/28123351", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28139498", "url": "https://glygen.org/publication/PubMed/28139498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28143890", "url": "https://glygen.org/publication/PubMed/28143890", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28151479", "url": "https://glygen.org/publication/PubMed/28151479", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28152500", "url": "https://glygen.org/publication/PubMed/28152500", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28176801", "url": "https://glygen.org/publication/PubMed/28176801", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28179017", "url": "https://glygen.org/publication/PubMed/28179017", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28188308", "url": "https://glygen.org/publication/PubMed/28188308", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28190771", "url": "https://glygen.org/publication/PubMed/28190771", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28208754", "url": "https://glygen.org/publication/PubMed/28208754", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28209617", "url": "https://glygen.org/publication/PubMed/28209617", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28209923", "url": "https://glygen.org/publication/PubMed/28209923", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28213783", "url": "https://glygen.org/publication/PubMed/28213783", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28217097", "url": "https://glygen.org/publication/PubMed/28217097", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28218907", "url": "https://glygen.org/publication/PubMed/28218907", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28231291", "url": "https://glygen.org/publication/PubMed/28231291", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28231796", "url": "https://glygen.org/publication/PubMed/28231796", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28232663", "url": "https://glygen.org/publication/PubMed/28232663", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28240737", "url": "https://glygen.org/publication/PubMed/28240737", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28246389", "url": "https://glygen.org/publication/PubMed/28246389", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28247844", "url": "https://glygen.org/publication/PubMed/28247844", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28249041", "url": "https://glygen.org/publication/PubMed/28249041", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28262546", "url": "https://glygen.org/publication/PubMed/28262546", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28276427", "url": "https://glygen.org/publication/PubMed/28276427", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28285136", "url": "https://glygen.org/publication/PubMed/28285136", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28289332", "url": "https://glygen.org/publication/PubMed/28289332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28294973", "url": "https://glygen.org/publication/PubMed/28294973", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28296156", "url": "https://glygen.org/publication/PubMed/28296156", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28303961", "url": "https://glygen.org/publication/PubMed/28303961", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28316325", "url": "https://glygen.org/publication/PubMed/28316325", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28320338", "url": "https://glygen.org/publication/PubMed/28320338", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28332309", "url": "https://glygen.org/publication/PubMed/28332309", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28332553", "url": "https://glygen.org/publication/PubMed/28332553", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28332584", "url": "https://glygen.org/publication/PubMed/28332584", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28337019", "url": "https://glygen.org/publication/PubMed/28337019", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28345588", "url": "https://glygen.org/publication/PubMed/28345588", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28345638", "url": "https://glygen.org/publication/PubMed/28345638", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28348404", "url": "https://glygen.org/publication/PubMed/28348404", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28349073", "url": "https://glygen.org/publication/PubMed/28349073", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28352764", "url": "https://glygen.org/publication/PubMed/28352764", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28356941", "url": "https://glygen.org/publication/PubMed/28356941", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28359316", "url": "https://glygen.org/publication/PubMed/28359316", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28360087", "url": "https://glygen.org/publication/PubMed/28360087", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28367274", "url": "https://glygen.org/publication/PubMed/28367274", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28370702", "url": "https://glygen.org/publication/PubMed/28370702", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28380428", "url": "https://glygen.org/publication/PubMed/28380428", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28380463", "url": "https://glygen.org/publication/PubMed/28380463", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28382169", "url": "https://glygen.org/publication/PubMed/28382169", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28402933", "url": "https://glygen.org/publication/PubMed/28402933", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28410531", "url": "https://glygen.org/publication/PubMed/28410531", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28415790", "url": "https://glygen.org/publication/PubMed/28415790", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28427860", "url": "https://glygen.org/publication/PubMed/28427860", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28431901", "url": "https://glygen.org/publication/PubMed/28431901", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28432984", "url": "https://glygen.org/publication/PubMed/28432984", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28440394", "url": "https://glygen.org/publication/PubMed/28440394", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28442995", "url": "https://glygen.org/publication/PubMed/28442995", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28445151", "url": "https://glygen.org/publication/PubMed/28445151", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28448438", "url": "https://glygen.org/publication/PubMed/28448438", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28460455", "url": "https://glygen.org/publication/PubMed/28460455", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28464039", "url": "https://glygen.org/publication/PubMed/28464039", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28465354", "url": "https://glygen.org/publication/PubMed/28465354", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28468326", "url": "https://glygen.org/publication/PubMed/28468326", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28470144", "url": "https://glygen.org/publication/PubMed/28470144", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28475412", "url": "https://glygen.org/publication/PubMed/28475412", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28476032", "url": "https://glygen.org/publication/PubMed/28476032", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28481292", "url": "https://glygen.org/publication/PubMed/28481292", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28484273", "url": "https://glygen.org/publication/PubMed/28484273", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28489572", "url": "https://glygen.org/publication/PubMed/28489572", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28518144", "url": "https://glygen.org/publication/PubMed/28518144", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28525374", "url": "https://glygen.org/publication/PubMed/28525374", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28529765", "url": "https://glygen.org/publication/PubMed/28529765", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28534510", "url": "https://glygen.org/publication/PubMed/28534510", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28542590", "url": "https://glygen.org/publication/PubMed/28542590", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28545581", "url": "https://glygen.org/publication/PubMed/28545581", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28548645", "url": "https://glygen.org/publication/PubMed/28548645", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28558072", "url": "https://glygen.org/publication/PubMed/28558072", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28573133", "url": "https://glygen.org/publication/PubMed/28573133", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28579808", "url": "https://glygen.org/publication/PubMed/28579808", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28588706", "url": "https://glygen.org/publication/PubMed/28588706", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28591580", "url": "https://glygen.org/publication/PubMed/28591580", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28614631", "url": "https://glygen.org/publication/PubMed/28614631", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28614911", "url": "https://glygen.org/publication/PubMed/28614911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28632179", "url": "https://glygen.org/publication/PubMed/28632179", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28632938", "url": "https://glygen.org/publication/PubMed/28632938", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28634229", "url": "https://glygen.org/publication/PubMed/28634229", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28650797", "url": "https://glygen.org/publication/PubMed/28650797", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28659580", "url": "https://glygen.org/publication/PubMed/28659580", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28663750", "url": "https://glygen.org/publication/PubMed/28663750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28664914", "url": "https://glygen.org/publication/PubMed/28664914", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28666462", "url": "https://glygen.org/publication/PubMed/28666462", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28669988", "url": "https://glygen.org/publication/PubMed/28669988", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28673204", "url": "https://glygen.org/publication/PubMed/28673204", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28675026", "url": "https://glygen.org/publication/PubMed/28675026", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28691020", "url": "https://glygen.org/publication/PubMed/28691020", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28691365", "url": "https://glygen.org/publication/PubMed/28691365", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28694518", "url": "https://glygen.org/publication/PubMed/28694518", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28698260", "url": "https://glygen.org/publication/PubMed/28698260", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28699701", "url": "https://glygen.org/publication/PubMed/28699701", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28700668", "url": "https://glygen.org/publication/PubMed/28700668", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28701722", "url": "https://glygen.org/publication/PubMed/28701722", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28701787", "url": "https://glygen.org/publication/PubMed/28701787", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28762556", "url": "https://glygen.org/publication/PubMed/28762556", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28765579", "url": "https://glygen.org/publication/PubMed/28765579", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28765641", "url": "https://glygen.org/publication/PubMed/28765641", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28771224", "url": "https://glygen.org/publication/PubMed/28771224", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28790888", "url": "https://glygen.org/publication/PubMed/28790888", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28794469", "url": "https://glygen.org/publication/PubMed/28794469", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28794477", "url": "https://glygen.org/publication/PubMed/28794477", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28796787", "url": "https://glygen.org/publication/PubMed/28796787", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28801576", "url": "https://glygen.org/publication/PubMed/28801576", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28806945", "url": "https://glygen.org/publication/PubMed/28806945", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28808297", "url": "https://glygen.org/publication/PubMed/28808297", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28814745", "url": "https://glygen.org/publication/PubMed/28814745", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28825630", "url": "https://glygen.org/publication/PubMed/28825630", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28833338", "url": "https://glygen.org/publication/PubMed/28833338", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28857517", "url": "https://glygen.org/publication/PubMed/28857517", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28871105", "url": "https://glygen.org/publication/PubMed/28871105", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28881576", "url": "https://glygen.org/publication/PubMed/28881576", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28881794", "url": "https://glygen.org/publication/PubMed/28881794", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28881811", "url": "https://glygen.org/publication/PubMed/28881811", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28883547", "url": "https://glygen.org/publication/PubMed/28883547", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28903364", "url": "https://glygen.org/publication/PubMed/28903364", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28903425", "url": "https://glygen.org/publication/PubMed/28903425", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28914370", "url": "https://glygen.org/publication/PubMed/28914370", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28915595", "url": "https://glygen.org/publication/PubMed/28915595", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28915623", "url": "https://glygen.org/publication/PubMed/28915623", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28916818", "url": "https://glygen.org/publication/PubMed/28916818", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28938574", "url": "https://glygen.org/publication/PubMed/28938574", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28943275", "url": "https://glygen.org/publication/PubMed/28943275", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28955927", "url": "https://glygen.org/publication/PubMed/28955927", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28960945", "url": "https://glygen.org/publication/PubMed/28960945", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28962326", "url": "https://glygen.org/publication/PubMed/28962326", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28967905", "url": "https://glygen.org/publication/PubMed/28967905", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28968999", "url": "https://glygen.org/publication/PubMed/28968999", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28969041", "url": "https://glygen.org/publication/PubMed/28969041", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28972559", "url": "https://glygen.org/publication/PubMed/28972559", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28976590", "url": "https://glygen.org/publication/PubMed/28976590", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28977846", "url": "https://glygen.org/publication/PubMed/28977846", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28978070", "url": "https://glygen.org/publication/PubMed/28978070", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28982149", "url": "https://glygen.org/publication/PubMed/28982149", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28986255", "url": "https://glygen.org/publication/PubMed/28986255", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28987868", "url": "https://glygen.org/publication/PubMed/28987868", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28993697", "url": "https://glygen.org/publication/PubMed/28993697", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29017516", "url": "https://glygen.org/publication/PubMed/29017516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29017592", "url": "https://glygen.org/publication/PubMed/29017592", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29038421", "url": "https://glygen.org/publication/PubMed/29038421", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29039440", "url": "https://glygen.org/publication/PubMed/29039440", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29044520", "url": "https://glygen.org/publication/PubMed/29044520", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29050229", "url": "https://glygen.org/publication/PubMed/29050229", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29071793", "url": "https://glygen.org/publication/PubMed/29071793", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29077243", "url": "https://glygen.org/publication/PubMed/29077243", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29078297", "url": "https://glygen.org/publication/PubMed/29078297", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29085455", "url": "https://glygen.org/publication/PubMed/29085455", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29088844", "url": "https://glygen.org/publication/PubMed/29088844", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29088849", "url": "https://glygen.org/publication/PubMed/29088849", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29090098", "url": "https://glygen.org/publication/PubMed/29090098", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29097657", "url": "https://glygen.org/publication/PubMed/29097657", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29099866", "url": "https://glygen.org/publication/PubMed/29099866", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29104511", "url": "https://glygen.org/publication/PubMed/29104511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29113242", "url": "https://glygen.org/publication/PubMed/29113242", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29113312", "url": "https://glygen.org/publication/PubMed/29113312", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29114068", "url": "https://glygen.org/publication/PubMed/29114068", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29116180", "url": "https://glygen.org/publication/PubMed/29116180", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29134198", "url": "https://glygen.org/publication/PubMed/29134198", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29137265", "url": "https://glygen.org/publication/PubMed/29137265", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29137317", "url": "https://glygen.org/publication/PubMed/29137317", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29147235", "url": "https://glygen.org/publication/PubMed/29147235", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29150437", "url": "https://glygen.org/publication/PubMed/29150437", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29152059", "url": "https://glygen.org/publication/PubMed/29152059", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29152112", "url": "https://glygen.org/publication/PubMed/29152112", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29152142", "url": "https://glygen.org/publication/PubMed/29152142", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29156676", "url": "https://glygen.org/publication/PubMed/29156676", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29156708", "url": "https://glygen.org/publication/PubMed/29156708", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29158883", "url": "https://glygen.org/publication/PubMed/29158883", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29161765", "url": "https://glygen.org/publication/PubMed/29161765", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29186909", "url": "https://glygen.org/publication/PubMed/29186909", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29190895", "url": "https://glygen.org/publication/PubMed/29190895", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29190940", "url": "https://glygen.org/publication/PubMed/29190940", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29193093", "url": "https://glygen.org/publication/PubMed/29193093", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29193730", "url": "https://glygen.org/publication/PubMed/29193730", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29193784", "url": "https://glygen.org/publication/PubMed/29193784", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29212252", "url": "https://glygen.org/publication/PubMed/29212252", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29213214", "url": "https://glygen.org/publication/PubMed/29213214", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29221131", "url": "https://glygen.org/publication/PubMed/29221131", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29221176", "url": "https://glygen.org/publication/PubMed/29221176", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29228673", "url": "https://glygen.org/publication/PubMed/29228673", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29228741", "url": "https://glygen.org/publication/PubMed/29228741", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29251327", "url": "https://glygen.org/publication/PubMed/29251327", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29254199", "url": "https://glygen.org/publication/PubMed/29254199", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29254208", "url": "https://glygen.org/publication/PubMed/29254208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29257275", "url": "https://glygen.org/publication/PubMed/29257275", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29257319", "url": "https://glygen.org/publication/PubMed/29257319", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29262536", "url": "https://glygen.org/publication/PubMed/29262536", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29262576", "url": "https://glygen.org/publication/PubMed/29262576", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29266303", "url": "https://glygen.org/publication/PubMed/29266303", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29269867", "url": "https://glygen.org/publication/PubMed/29269867", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29278364", "url": "https://glygen.org/publication/PubMed/29278364", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29282077", "url": "https://glygen.org/publication/PubMed/29282077", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29285315", "url": "https://glygen.org/publication/PubMed/29285315", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29286216", "url": "https://glygen.org/publication/PubMed/29286216", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29292863", "url": "https://glygen.org/publication/PubMed/29292863", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29296215", "url": "https://glygen.org/publication/PubMed/29296215", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29310608", "url": "https://glygen.org/publication/PubMed/29310608", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29311919", "url": "https://glygen.org/publication/PubMed/29311919", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29314656", "url": "https://glygen.org/publication/PubMed/29314656", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29331082", "url": "https://glygen.org/publication/PubMed/29331082", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29335246", "url": "https://glygen.org/publication/PubMed/29335246", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29341150", "url": "https://glygen.org/publication/PubMed/29341150", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29348846", "url": "https://glygen.org/publication/PubMed/29348846", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29354058", "url": "https://glygen.org/publication/PubMed/29354058", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29355935", "url": "https://glygen.org/publication/PubMed/29355935", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29357370", "url": "https://glygen.org/publication/PubMed/29357370", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29361539", "url": "https://glygen.org/publication/PubMed/29361539", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29363568", "url": "https://glygen.org/publication/PubMed/29363568", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29374705", "url": "https://glygen.org/publication/PubMed/29374705", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29375377", "url": "https://glygen.org/publication/PubMed/29375377", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29377936", "url": "https://glygen.org/publication/PubMed/29377936", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29386091", "url": "https://glygen.org/publication/PubMed/29386091", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29386585", "url": "https://glygen.org/publication/PubMed/29386585", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29393871", "url": "https://glygen.org/publication/PubMed/29393871", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29396506", "url": "https://glygen.org/publication/PubMed/29396506", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29419736", "url": "https://glygen.org/publication/PubMed/29419736", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29423104", "url": "https://glygen.org/publication/PubMed/29423104", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29423114", "url": "https://glygen.org/publication/PubMed/29423114", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29423932", "url": "https://glygen.org/publication/PubMed/29423932", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29426295", "url": "https://glygen.org/publication/PubMed/29426295", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29426928", "url": "https://glygen.org/publication/PubMed/29426928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29434218", "url": "https://glygen.org/publication/PubMed/29434218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29434241", "url": "https://glygen.org/publication/PubMed/29434241", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29434604", "url": "https://glygen.org/publication/PubMed/29434604", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29434714", "url": "https://glygen.org/publication/PubMed/29434714", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29434840", "url": "https://glygen.org/publication/PubMed/29434840", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29435164", "url": "https://glygen.org/publication/PubMed/29435164", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29440989", "url": "https://glygen.org/publication/PubMed/29440989", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29459737", "url": "https://glygen.org/publication/PubMed/29459737", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29462183", "url": "https://glygen.org/publication/PubMed/29462183", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29463565", "url": "https://glygen.org/publication/PubMed/29463565", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29463831", "url": "https://glygen.org/publication/PubMed/29463831", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29470540", "url": "https://glygen.org/publication/PubMed/29470540", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29471001", "url": "https://glygen.org/publication/PubMed/29471001", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29475988", "url": "https://glygen.org/publication/PubMed/29475988", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29476223", "url": "https://glygen.org/publication/PubMed/29476223", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29482651", "url": "https://glygen.org/publication/PubMed/29482651", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29484131", "url": "https://glygen.org/publication/PubMed/29484131", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29497056", "url": "https://glygen.org/publication/PubMed/29497056", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29502044", "url": "https://glygen.org/publication/PubMed/29502044", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29506489", "url": "https://glygen.org/publication/PubMed/29506489", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29507656", "url": "https://glygen.org/publication/PubMed/29507656", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29507660", "url": "https://glygen.org/publication/PubMed/29507660", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29510720", "url": "https://glygen.org/publication/PubMed/29510720", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29514603", "url": "https://glygen.org/publication/PubMed/29514603", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29515111", "url": "https://glygen.org/publication/PubMed/29515111", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29523594", "url": "https://glygen.org/publication/PubMed/29523594", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29523748", "url": "https://glygen.org/publication/PubMed/29523748", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29524195", "url": "https://glygen.org/publication/PubMed/29524195", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29524296", "url": "https://glygen.org/publication/PubMed/29524296", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29533017", "url": "https://glygen.org/publication/PubMed/29533017", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29535821", "url": "https://glygen.org/publication/PubMed/29535821", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29540196", "url": "https://glygen.org/publication/PubMed/29540196", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29540539", "url": "https://glygen.org/publication/PubMed/29540539", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29549527", "url": "https://glygen.org/publication/PubMed/29549527", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29552308", "url": "https://glygen.org/publication/PubMed/29552308", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29560097", "url": "https://glygen.org/publication/PubMed/29560097", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29563926", "url": "https://glygen.org/publication/PubMed/29563926", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29569795", "url": "https://glygen.org/publication/PubMed/29569795", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29570671", "url": "https://glygen.org/publication/PubMed/29570671", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29572181", "url": "https://glygen.org/publication/PubMed/29572181", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29581766", "url": "https://glygen.org/publication/PubMed/29581766", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29628889", "url": "https://glygen.org/publication/PubMed/29628889", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29632185", "url": "https://glygen.org/publication/PubMed/29632185", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29642855", "url": "https://glygen.org/publication/PubMed/29642855", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29652795", "url": "https://glygen.org/publication/PubMed/29652795", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29658179", "url": "https://glygen.org/publication/PubMed/29658179", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29662626", "url": "https://glygen.org/publication/PubMed/29662626", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29667783", "url": "https://glygen.org/publication/PubMed/29667783", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29670684", "url": "https://glygen.org/publication/PubMed/29670684", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29674727", "url": "https://glygen.org/publication/PubMed/29674727", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29692710", "url": "https://glygen.org/publication/PubMed/29692710", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29695704", "url": "https://glygen.org/publication/PubMed/29695704", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29703716", "url": "https://glygen.org/publication/PubMed/29703716", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29707142", "url": "https://glygen.org/publication/PubMed/29707142", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29716528", "url": "https://glygen.org/publication/PubMed/29716528", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29722156", "url": "https://glygen.org/publication/PubMed/29722156", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29723154", "url": "https://glygen.org/publication/PubMed/29723154", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29725263", "url": "https://glygen.org/publication/PubMed/29725263", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29728125", "url": "https://glygen.org/publication/PubMed/29728125", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29728594", "url": "https://glygen.org/publication/PubMed/29728594", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29737572", "url": "https://glygen.org/publication/PubMed/29737572", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29743977", "url": "https://glygen.org/publication/PubMed/29743977", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29749377", "url": "https://glygen.org/publication/PubMed/29749377", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29749659", "url": "https://glygen.org/publication/PubMed/29749659", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29754406", "url": "https://glygen.org/publication/PubMed/29754406", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29755672", "url": "https://glygen.org/publication/PubMed/29755672", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29783631", "url": "https://glygen.org/publication/PubMed/29783631", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29783666", "url": "https://glygen.org/publication/PubMed/29783666", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29786107", "url": "https://glygen.org/publication/PubMed/29786107", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29786666", "url": "https://glygen.org/publication/PubMed/29786666", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29795279", "url": "https://glygen.org/publication/PubMed/29795279", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29796120", "url": "https://glygen.org/publication/PubMed/29796120", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29799481", "url": "https://glygen.org/publication/PubMed/29799481", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29799846", "url": "https://glygen.org/publication/PubMed/29799846", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29805559", "url": "https://glygen.org/publication/PubMed/29805559", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29808317", "url": "https://glygen.org/publication/PubMed/29808317", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29843216", "url": "https://glygen.org/publication/PubMed/29843216", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29845225", "url": "https://glygen.org/publication/PubMed/29845225", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29845289", "url": "https://glygen.org/publication/PubMed/29845289", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29851245", "url": "https://glygen.org/publication/PubMed/29851245", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29861842", "url": "https://glygen.org/publication/PubMed/29861842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29867200", "url": "https://glygen.org/publication/PubMed/29867200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29872222", "url": "https://glygen.org/publication/PubMed/29872222", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29882124", "url": "https://glygen.org/publication/PubMed/29882124", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29883748", "url": "https://glygen.org/publication/PubMed/29883748", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29899706", "url": "https://glygen.org/publication/PubMed/29899706", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29908183", "url": "https://glygen.org/publication/PubMed/29908183", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29921293", "url": "https://glygen.org/publication/PubMed/29921293", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29922071", "url": "https://glygen.org/publication/PubMed/29922071", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29928344", "url": "https://glygen.org/publication/PubMed/29928344", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29930759", "url": "https://glygen.org/publication/PubMed/29930759", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29930760", "url": "https://glygen.org/publication/PubMed/29930760", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29932504", "url": "https://glygen.org/publication/PubMed/29932504", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29934505", "url": "https://glygen.org/publication/PubMed/29934505", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29937924", "url": "https://glygen.org/publication/PubMed/29937924", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29941886", "url": "https://glygen.org/publication/PubMed/29941886", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29947926", "url": "https://glygen.org/publication/PubMed/29947926", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29955247", "url": "https://glygen.org/publication/PubMed/29955247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29956797", "url": "https://glygen.org/publication/PubMed/29956797", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29956803", "url": "https://glygen.org/publication/PubMed/29956803", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29970878", "url": "https://glygen.org/publication/PubMed/29970878", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29973325", "url": "https://glygen.org/publication/PubMed/29973325", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29973512", "url": "https://glygen.org/publication/PubMed/29973512", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29973668", "url": "https://glygen.org/publication/PubMed/29973668", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29980193", "url": "https://glygen.org/publication/PubMed/29980193", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29985963", "url": "https://glygen.org/publication/PubMed/29985963", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29988358", "url": "https://glygen.org/publication/PubMed/29988358", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29992318", "url": "https://glygen.org/publication/PubMed/29992318", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29992949", "url": "https://glygen.org/publication/PubMed/29992949", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30003065", "url": "https://glygen.org/publication/PubMed/30003065", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30012111", "url": "https://glygen.org/publication/PubMed/30012111", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30015159", "url": "https://glygen.org/publication/PubMed/30015159", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30021163", "url": "https://glygen.org/publication/PubMed/30021163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30021848", "url": "https://glygen.org/publication/PubMed/30021848", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30034631", "url": "https://glygen.org/publication/PubMed/30034631", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30048489", "url": "https://glygen.org/publication/PubMed/30048489", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30053873", "url": "https://glygen.org/publication/PubMed/30053873", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30057674", "url": "https://glygen.org/publication/PubMed/30057674", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30063851", "url": "https://glygen.org/publication/PubMed/30063851", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30089483", "url": "https://glygen.org/publication/PubMed/30089483", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30092222", "url": "https://glygen.org/publication/PubMed/30092222", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30097593", "url": "https://glygen.org/publication/PubMed/30097593", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30098579", "url": "https://glygen.org/publication/PubMed/30098579", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30106121", "url": "https://glygen.org/publication/PubMed/30106121", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30107094", "url": "https://glygen.org/publication/PubMed/30107094", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30112032", "url": "https://glygen.org/publication/PubMed/30112032", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30117681", "url": "https://glygen.org/publication/PubMed/30117681", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30118842", "url": "https://glygen.org/publication/PubMed/30118842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30123074", "url": "https://glygen.org/publication/PubMed/30123074", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30128000", "url": "https://glygen.org/publication/PubMed/30128000", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30131483", "url": "https://glygen.org/publication/PubMed/30131483", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30138337", "url": "https://glygen.org/publication/PubMed/30138337", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30148873", "url": "https://glygen.org/publication/PubMed/30148873", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30148884", "url": "https://glygen.org/publication/PubMed/30148884", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30154433", "url": "https://glygen.org/publication/PubMed/30154433", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30154548", "url": "https://glygen.org/publication/PubMed/30154548", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30181250", "url": "https://glygen.org/publication/PubMed/30181250", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30195794", "url": "https://glygen.org/publication/PubMed/30195794", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30205513", "url": "https://glygen.org/publication/PubMed/30205513", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30206294", "url": "https://glygen.org/publication/PubMed/30206294", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30208604", "url": "https://glygen.org/publication/PubMed/30208604", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30213826", "url": "https://glygen.org/publication/PubMed/30213826", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30226594", "url": "https://glygen.org/publication/PubMed/30226594", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30230030", "url": "https://glygen.org/publication/PubMed/30230030", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30242159", "url": "https://glygen.org/publication/PubMed/30242159", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30245957", "url": "https://glygen.org/publication/PubMed/30245957", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30249058", "url": "https://glygen.org/publication/PubMed/30249058", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30250490", "url": "https://glygen.org/publication/PubMed/30250490", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30258898", "url": "https://glygen.org/publication/PubMed/30258898", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30258945", "url": "https://glygen.org/publication/PubMed/30258945", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30266989", "url": "https://glygen.org/publication/PubMed/30266989", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30268125", "url": "https://glygen.org/publication/PubMed/30268125", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30271951", "url": "https://glygen.org/publication/PubMed/30271951", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30272389", "url": "https://glygen.org/publication/PubMed/30272389", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30274346", "url": "https://glygen.org/publication/PubMed/30274346", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30282964", "url": "https://glygen.org/publication/PubMed/30282964", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30285764", "url": "https://glygen.org/publication/PubMed/30285764", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30305055", "url": "https://glygen.org/publication/PubMed/30305055", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30316146", "url": "https://glygen.org/publication/PubMed/30316146", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30318853", "url": "https://glygen.org/publication/PubMed/30318853", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30337563", "url": "https://glygen.org/publication/PubMed/30337563", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30337688", "url": "https://glygen.org/publication/PubMed/30337688", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30343126", "url": "https://glygen.org/publication/PubMed/30343126", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30353642", "url": "https://glygen.org/publication/PubMed/30353642", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30353649", "url": "https://glygen.org/publication/PubMed/30353649", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30357520", "url": "https://glygen.org/publication/PubMed/30357520", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30359321", "url": "https://glygen.org/publication/PubMed/30359321", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30363990", "url": "https://glygen.org/publication/PubMed/30363990", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30367624", "url": "https://glygen.org/publication/PubMed/30367624", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30374127", "url": "https://glygen.org/publication/PubMed/30374127", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30377337", "url": "https://glygen.org/publication/PubMed/30377337", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30385871", "url": "https://glygen.org/publication/PubMed/30385871", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30405592", "url": "https://glygen.org/publication/PubMed/30405592", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30410328", "url": "https://glygen.org/publication/PubMed/30410328", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30413706", "url": "https://glygen.org/publication/PubMed/30413706", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30413753", "url": "https://glygen.org/publication/PubMed/30413753", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30428057", "url": "https://glygen.org/publication/PubMed/30428057", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30429793", "url": "https://glygen.org/publication/PubMed/30429793", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30455992", "url": "https://glygen.org/publication/PubMed/30455992", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30456390", "url": "https://glygen.org/publication/PubMed/30456390", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30461193", "url": "https://glygen.org/publication/PubMed/30461193", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30464511", "url": "https://glygen.org/publication/PubMed/30464511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30470263", "url": "https://glygen.org/publication/PubMed/30470263", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30478302", "url": "https://glygen.org/publication/PubMed/30478302", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30488766", "url": "https://glygen.org/publication/PubMed/30488766", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30500680", "url": "https://glygen.org/publication/PubMed/30500680", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30510622", "url": "https://glygen.org/publication/PubMed/30510622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30510777", "url": "https://glygen.org/publication/PubMed/30510777", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30513611", "url": "https://glygen.org/publication/PubMed/30513611", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30534418", "url": "https://glygen.org/publication/PubMed/30534418", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30545129", "url": "https://glygen.org/publication/PubMed/30545129", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30546425", "url": "https://glygen.org/publication/PubMed/30546425", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30563079", "url": "https://glygen.org/publication/PubMed/30563079", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30564555", "url": "https://glygen.org/publication/PubMed/30564555", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30571167", "url": "https://glygen.org/publication/PubMed/30571167", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30575721", "url": "https://glygen.org/publication/PubMed/30575721", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30584254", "url": "https://glygen.org/publication/PubMed/30584254", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30602778", "url": "https://glygen.org/publication/PubMed/30602778", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30618098", "url": "https://glygen.org/publication/PubMed/30618098", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30619121", "url": "https://glygen.org/publication/PubMed/30619121", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30621146", "url": "https://glygen.org/publication/PubMed/30621146", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30622543", "url": "https://glygen.org/publication/PubMed/30622543", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30622697", "url": "https://glygen.org/publication/PubMed/30622697", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30643008", "url": "https://glygen.org/publication/PubMed/30643008", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30654190", "url": "https://glygen.org/publication/PubMed/30654190", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30666838", "url": "https://glygen.org/publication/PubMed/30666838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30669455", "url": "https://glygen.org/publication/PubMed/30669455", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30683932", "url": "https://glygen.org/publication/PubMed/30683932", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30692626", "url": "https://glygen.org/publication/PubMed/30692626", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30693913", "url": "https://glygen.org/publication/PubMed/30693913", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30695053", "url": "https://glygen.org/publication/PubMed/30695053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30700111", "url": "https://glygen.org/publication/PubMed/30700111", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30700740", "url": "https://glygen.org/publication/PubMed/30700740", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30709770", "url": "https://glygen.org/publication/PubMed/30709770", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30733856", "url": "https://glygen.org/publication/PubMed/30733856", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30737086", "url": "https://glygen.org/publication/PubMed/30737086", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30745576", "url": "https://glygen.org/publication/PubMed/30745576", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30754629", "url": "https://glygen.org/publication/PubMed/30754629", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30755508", "url": "https://glygen.org/publication/PubMed/30755508", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30770562", "url": "https://glygen.org/publication/PubMed/30770562", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30770776", "url": "https://glygen.org/publication/PubMed/30770776", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30774778", "url": "https://glygen.org/publication/PubMed/30774778", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30796242", "url": "https://glygen.org/publication/PubMed/30796242", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30804434", "url": "https://glygen.org/publication/PubMed/30804434", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30804795", "url": "https://glygen.org/publication/PubMed/30804795", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30805303", "url": "https://glygen.org/publication/PubMed/30805303", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30813295", "url": "https://glygen.org/publication/PubMed/30813295", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30813597", "url": "https://glygen.org/publication/PubMed/30813597", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30816192", "url": "https://glygen.org/publication/PubMed/30816192", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30816208", "url": "https://glygen.org/publication/PubMed/30816208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30824683", "url": "https://glygen.org/publication/PubMed/30824683", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30839155", "url": "https://glygen.org/publication/PubMed/30839155", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30841855", "url": "https://glygen.org/publication/PubMed/30841855", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30845764", "url": "https://glygen.org/publication/PubMed/30845764", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30845932", "url": "https://glygen.org/publication/PubMed/30845932", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30850948", "url": "https://glygen.org/publication/PubMed/30850948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30860936", "url": "https://glygen.org/publication/PubMed/30860936", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30862883", "url": "https://glygen.org/publication/PubMed/30862883", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30872638", "url": "https://glygen.org/publication/PubMed/30872638", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30887599", "url": "https://glygen.org/publication/PubMed/30887599", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30897948", "url": "https://glygen.org/publication/PubMed/30897948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30902093", "url": "https://glygen.org/publication/PubMed/30902093", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30906373", "url": "https://glygen.org/publication/PubMed/30906373", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30909453", "url": "https://glygen.org/publication/PubMed/30909453", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30944027", "url": "https://glygen.org/publication/PubMed/30944027", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30944303", "url": "https://glygen.org/publication/PubMed/30944303", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30947381", "url": "https://glygen.org/publication/PubMed/30947381", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30952838", "url": "https://glygen.org/publication/PubMed/30952838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30952843", "url": "https://glygen.org/publication/PubMed/30952843", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30959964", "url": "https://glygen.org/publication/PubMed/30959964", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30962488", "url": "https://glygen.org/publication/PubMed/30962488", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30969964", "url": "https://glygen.org/publication/PubMed/30969964", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30971932", "url": "https://glygen.org/publication/PubMed/30971932", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30975543", "url": "https://glygen.org/publication/PubMed/30975543", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30979953", "url": "https://glygen.org/publication/PubMed/30979953", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30986276", "url": "https://glygen.org/publication/PubMed/30986276", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30987128", "url": "https://glygen.org/publication/PubMed/30987128", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30987380", "url": "https://glygen.org/publication/PubMed/30987380", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30992506", "url": "https://glygen.org/publication/PubMed/30992506", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31010234", "url": "https://glygen.org/publication/PubMed/31010234", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31030489", "url": "", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31032225", "url": "https://glygen.org/publication/PubMed/31032225", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31032363", "url": "https://glygen.org/publication/PubMed/31032363", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31035633", "url": "https://glygen.org/publication/PubMed/31035633", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31035650", "url": "https://glygen.org/publication/PubMed/31035650", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31037139", "url": "https://glygen.org/publication/PubMed/31037139", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31042473", "url": "https://glygen.org/publication/PubMed/31042473", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31053703", "url": "https://glygen.org/publication/PubMed/31053703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31057403", "url": "https://glygen.org/publication/PubMed/31057403", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31058093", "url": "https://glygen.org/publication/PubMed/31058093", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31065010", "url": "https://glygen.org/publication/PubMed/31065010", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31069012", "url": "https://glygen.org/publication/PubMed/31069012", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31092879", "url": "https://glygen.org/publication/PubMed/31092879", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31106005", "url": "https://glygen.org/publication/PubMed/31106005", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31114228", "url": "https://glygen.org/publication/PubMed/31114228", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31118667", "url": "https://glygen.org/publication/PubMed/31118667", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31119047", "url": "https://glygen.org/publication/PubMed/31119047", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31119584", "url": "https://glygen.org/publication/PubMed/31119584", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31122311", "url": "https://glygen.org/publication/PubMed/31122311", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31139021", "url": "https://glygen.org/publication/PubMed/31139021", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31143097", "url": "https://glygen.org/publication/PubMed/31143097", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31150511", "url": "https://glygen.org/publication/PubMed/31150511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31157169", "url": "https://glygen.org/publication/PubMed/31157169", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31160483", "url": "https://glygen.org/publication/PubMed/31160483", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31183073", "url": "https://glygen.org/publication/PubMed/31183073", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31186741", "url": "https://glygen.org/publication/PubMed/31186741", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31195734", "url": "https://glygen.org/publication/PubMed/31195734", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31197106", "url": "https://glygen.org/publication/PubMed/31197106", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31199048", "url": "https://glygen.org/publication/PubMed/31199048", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31227006", "url": "https://glygen.org/publication/PubMed/31227006", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31247000", "url": "https://glygen.org/publication/PubMed/31247000", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31263479", "url": "https://glygen.org/publication/PubMed/31263479", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31276504", "url": "https://glygen.org/publication/PubMed/31276504", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31281490", "url": "https://glygen.org/publication/PubMed/31281490", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31284427", "url": "https://glygen.org/publication/PubMed/31284427", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31288897", "url": "https://glygen.org/publication/PubMed/31288897", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31290289", "url": "https://glygen.org/publication/PubMed/31290289", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31319869", "url": "https://glygen.org/publication/PubMed/31319869", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31333726", "url": "https://glygen.org/publication/PubMed/31333726", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31337843", "url": "https://glygen.org/publication/PubMed/31337843", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31345230", "url": "https://glygen.org/publication/PubMed/31345230", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31360736", "url": "https://glygen.org/publication/PubMed/31360736", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31383875", "url": "https://glygen.org/publication/PubMed/31383875", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31393061", "url": "https://glygen.org/publication/PubMed/31393061", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31409554", "url": "https://glygen.org/publication/PubMed/31409554", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31420605", "url": "https://glygen.org/publication/PubMed/31420605", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31428587", "url": "https://glygen.org/publication/PubMed/31428587", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31431660", "url": "https://glygen.org/publication/PubMed/31431660", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31464372", "url": "https://glygen.org/publication/PubMed/31464372", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31480645", "url": "https://glygen.org/publication/PubMed/31480645", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31482977", "url": "https://glygen.org/publication/PubMed/31482977", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31496729", "url": "https://glygen.org/publication/PubMed/31496729", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31500366", "url": "https://glygen.org/publication/PubMed/31500366", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31509054", "url": "https://glygen.org/publication/PubMed/31509054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31510045", "url": "https://glygen.org/publication/PubMed/31510045", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31519182", "url": "https://glygen.org/publication/PubMed/31519182", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31523184", "url": "https://glygen.org/publication/PubMed/31523184", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31527082", "url": "https://glygen.org/publication/PubMed/31527082", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31527632", "url": "https://glygen.org/publication/PubMed/31527632", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31540244", "url": "https://glygen.org/publication/PubMed/31540244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31547231", "url": "https://glygen.org/publication/PubMed/31547231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31549311", "url": "https://glygen.org/publication/PubMed/31549311", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31551414", "url": "https://glygen.org/publication/PubMed/31551414", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31571328", "url": "https://glygen.org/publication/PubMed/31571328", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31571914", "url": "https://glygen.org/publication/PubMed/31571914", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31572671", "url": "https://glygen.org/publication/PubMed/31572671", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31579406", "url": "https://glygen.org/publication/PubMed/31579406", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31583053", "url": "https://glygen.org/publication/PubMed/31583053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31584065", "url": "https://glygen.org/publication/PubMed/31584065", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31591437", "url": "https://glygen.org/publication/PubMed/31591437", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31592121", "url": "https://glygen.org/publication/PubMed/31592121", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31597121", "url": "https://glygen.org/publication/PubMed/31597121", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31605257", "url": "https://glygen.org/publication/PubMed/31605257", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31607750", "url": "https://glygen.org/publication/PubMed/31607750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31614723", "url": "https://glygen.org/publication/PubMed/31614723", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31629677", "url": "https://glygen.org/publication/PubMed/31629677", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31632477", "url": "https://glygen.org/publication/PubMed/31632477", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31635212", "url": "https://glygen.org/publication/PubMed/31635212", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31649511", "url": "https://glygen.org/publication/PubMed/31649511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31653015", "url": "https://glygen.org/publication/PubMed/31653015", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31657882", "url": "https://glygen.org/publication/PubMed/31657882", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31661137", "url": "https://glygen.org/publication/PubMed/31661137", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31665911", "url": "https://glygen.org/publication/PubMed/31665911", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31679138", "url": "https://glygen.org/publication/PubMed/31679138", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31680960", "url": "https://glygen.org/publication/PubMed/31680960", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31680961", "url": "https://glygen.org/publication/PubMed/31680961", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31686763", "url": "https://glygen.org/publication/PubMed/31686763", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31686909", "url": "https://glygen.org/publication/PubMed/31686909", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31708904", "url": "https://glygen.org/publication/PubMed/31708904", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31710966", "url": "https://glygen.org/publication/PubMed/31710966", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31723205", "url": "https://glygen.org/publication/PubMed/31723205", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31725811", "url": "https://glygen.org/publication/PubMed/31725811", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31728130", "url": "https://glygen.org/publication/PubMed/31728130", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31729456", "url": "https://glygen.org/publication/PubMed/31729456", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31740700", "url": "https://glygen.org/publication/PubMed/31740700", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31740942", "url": "https://glygen.org/publication/PubMed/31740942", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31762815", "url": "https://glygen.org/publication/PubMed/31762815", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31772226", "url": "https://glygen.org/publication/PubMed/31772226", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31780930", "url": "https://glygen.org/publication/PubMed/31780930", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31787905", "url": "https://glygen.org/publication/PubMed/31787905", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31790465", "url": "https://glygen.org/publication/PubMed/31790465", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31795454", "url": "https://glygen.org/publication/PubMed/31795454", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31827405", "url": "https://glygen.org/publication/PubMed/31827405", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31834925", "url": "https://glygen.org/publication/PubMed/31834925", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31835877", "url": "https://glygen.org/publication/PubMed/31835877", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31844089", "url": "https://glygen.org/publication/PubMed/31844089", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31852504", "url": "https://glygen.org/publication/PubMed/31852504", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31852899", "url": "https://glygen.org/publication/PubMed/31852899", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31857650", "url": "https://glygen.org/publication/PubMed/31857650", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31861050", "url": "https://glygen.org/publication/PubMed/31861050", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31862959", "url": "https://glygen.org/publication/PubMed/31862959", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31870092", "url": "https://glygen.org/publication/PubMed/31870092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31871542", "url": "https://glygen.org/publication/PubMed/31871542", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31883527", "url": "https://glygen.org/publication/PubMed/31883527", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31885701", "url": "https://glygen.org/publication/PubMed/31885701", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31889900", "url": "https://glygen.org/publication/PubMed/31889900", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31893310", "url": "https://glygen.org/publication/PubMed/31893310", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31897228", "url": "https://glygen.org/publication/PubMed/31897228", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31900384", "url": "https://glygen.org/publication/PubMed/31900384", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31910234", "url": "https://glygen.org/publication/PubMed/31910234", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31915509", "url": "https://glygen.org/publication/PubMed/31915509", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31919413", "url": "https://glygen.org/publication/PubMed/31919413", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31922234", "url": "https://glygen.org/publication/PubMed/31922234", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31931846", "url": "https://glygen.org/publication/PubMed/31931846", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31932581", "url": "https://glygen.org/publication/PubMed/31932581", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31936857", "url": "https://glygen.org/publication/PubMed/31936857", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31941116", "url": "https://glygen.org/publication/PubMed/31941116", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31957155", "url": "https://glygen.org/publication/PubMed/31957155", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31957179", "url": "https://glygen.org/publication/PubMed/31957179", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31957323", "url": "https://glygen.org/publication/PubMed/31957323", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31988347", "url": "https://glygen.org/publication/PubMed/31988347", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32005797", "url": "https://glygen.org/publication/PubMed/32005797", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32010815", "url": "https://glygen.org/publication/PubMed/32010815", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32012648", "url": "https://glygen.org/publication/PubMed/32012648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32021440", "url": "https://glygen.org/publication/PubMed/32021440", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32075106", "url": "https://glygen.org/publication/PubMed/32075106", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32081857", "url": "https://glygen.org/publication/PubMed/32081857", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32101017", "url": "https://glygen.org/publication/PubMed/32101017", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32116552", "url": "https://glygen.org/publication/PubMed/32116552", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32117763", "url": "https://glygen.org/publication/PubMed/32117763", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32140390", "url": "https://glygen.org/publication/PubMed/32140390", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32152268", "url": "https://glygen.org/publication/PubMed/32152268", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32152504", "url": "https://glygen.org/publication/PubMed/32152504", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32174768", "url": "https://glygen.org/publication/PubMed/32174768", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32176823", "url": "https://glygen.org/publication/PubMed/32176823", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32194726", "url": "https://glygen.org/publication/PubMed/32194726", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32265715", "url": "https://glygen.org/publication/PubMed/32265715", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32276265", "url": "https://glygen.org/publication/PubMed/32276265", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32286266", "url": "https://glygen.org/publication/PubMed/32286266", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32290365", "url": "https://glygen.org/publication/PubMed/32290365", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32316166", "url": "https://glygen.org/publication/PubMed/32316166", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32323830", "url": "https://glygen.org/publication/PubMed/32323830", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32340328", "url": "https://glygen.org/publication/PubMed/32340328", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32341333", "url": "https://glygen.org/publication/PubMed/32341333", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32347294", "url": "https://glygen.org/publication/PubMed/32347294", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32347651", "url": "https://glygen.org/publication/PubMed/32347651", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32350708", "url": "https://glygen.org/publication/PubMed/32350708", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32363163", "url": "https://glygen.org/publication/PubMed/32363163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32365859", "url": "https://glygen.org/publication/PubMed/32365859", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32371982", "url": "https://glygen.org/publication/PubMed/32371982", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32374759", "url": "https://glygen.org/publication/PubMed/32374759", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32375544", "url": "https://glygen.org/publication/PubMed/32375544", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32375768", "url": "https://glygen.org/publication/PubMed/32375768", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32385243", "url": "https://glygen.org/publication/PubMed/32385243", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32398948", "url": "https://glygen.org/publication/PubMed/32398948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32410646", "url": "https://glygen.org/publication/PubMed/32410646", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32414345", "url": "https://glygen.org/publication/PubMed/32414345", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32421688", "url": "https://glygen.org/publication/PubMed/32421688", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32432052", "url": "https://glygen.org/publication/PubMed/32432052", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32437392", "url": "https://glygen.org/publication/PubMed/32437392", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32439931", "url": "https://glygen.org/publication/PubMed/32439931", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32440143", "url": "https://glygen.org/publication/PubMed/32440143", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32442683", "url": "https://glygen.org/publication/PubMed/32442683", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32463592", "url": "https://glygen.org/publication/PubMed/32463592", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32466169", "url": "https://glygen.org/publication/PubMed/32466169", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32471246", "url": "https://glygen.org/publication/PubMed/32471246", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32499871", "url": "https://glygen.org/publication/PubMed/32499871", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32516328", "url": "https://glygen.org/publication/PubMed/32516328", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32530390", "url": "https://glygen.org/publication/PubMed/32530390", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32541784", "url": "https://glygen.org/publication/PubMed/32541784", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32547096", "url": "https://glygen.org/publication/PubMed/32547096", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32547392", "url": "https://glygen.org/publication/PubMed/32547392", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32554303", "url": "https://glygen.org/publication/PubMed/32554303", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32555194", "url": "https://glygen.org/publication/PubMed/32555194", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32560319", "url": "https://glygen.org/publication/PubMed/32560319", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32576196", "url": "https://glygen.org/publication/PubMed/32576196", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32579864", "url": "https://glygen.org/publication/PubMed/32579864", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32587773", "url": "https://glygen.org/publication/PubMed/32587773", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32610557", "url": "https://glygen.org/publication/PubMed/32610557", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32627020", "url": "https://glygen.org/publication/PubMed/32627020", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32627831", "url": "https://glygen.org/publication/PubMed/32627831", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32635337", "url": "https://glygen.org/publication/PubMed/32635337", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32661241", "url": "https://glygen.org/publication/PubMed/32661241", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32665601", "url": "https://glygen.org/publication/PubMed/32665601", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32676926", "url": "https://glygen.org/publication/PubMed/32676926", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32678073", "url": "https://glygen.org/publication/PubMed/32678073", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32694512", "url": "https://glygen.org/publication/PubMed/32694512", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32705280", "url": "https://glygen.org/publication/PubMed/32705280", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32705779", "url": "https://glygen.org/publication/PubMed/32705779", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32707717", "url": "https://glygen.org/publication/PubMed/32707717", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32728700", "url": "https://glygen.org/publication/PubMed/32728700", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32733154", "url": "https://glygen.org/publication/PubMed/32733154", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32733649", "url": "https://glygen.org/publication/PubMed/32733649", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32744507", "url": "https://glygen.org/publication/PubMed/32744507", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32753891", "url": "https://glygen.org/publication/PubMed/32753891", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32753957", "url": "https://glygen.org/publication/PubMed/32753957", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32756405", "url": "https://glygen.org/publication/PubMed/32756405", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32758183", "url": "https://glygen.org/publication/PubMed/32758183", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32766133", "url": "https://glygen.org/publication/PubMed/32766133", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32781572", "url": "https://glygen.org/publication/PubMed/32781572", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32782388", "url": "https://glygen.org/publication/PubMed/32782388", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32787969", "url": "https://glygen.org/publication/PubMed/32787969", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32788653", "url": "https://glygen.org/publication/PubMed/32788653", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32794021", "url": "https://glygen.org/publication/PubMed/32794021", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32811805", "url": "https://glygen.org/publication/PubMed/32811805", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32823607", "url": "https://glygen.org/publication/PubMed/32823607", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32825725", "url": "https://glygen.org/publication/PubMed/32825725", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32829599", "url": "https://glygen.org/publication/PubMed/32829599", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32842681", "url": "https://glygen.org/publication/PubMed/32842681", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32843616", "url": "https://glygen.org/publication/PubMed/32843616", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32850353", "url": "https://glygen.org/publication/PubMed/32850353", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32863234", "url": "https://glygen.org/publication/PubMed/32863234", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32867711", "url": "https://glygen.org/publication/PubMed/32867711", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32875583", "url": "https://glygen.org/publication/PubMed/32875583", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32877278", "url": "https://glygen.org/publication/PubMed/32877278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32899862", "url": "https://glygen.org/publication/PubMed/32899862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32904445", "url": "https://glygen.org/publication/PubMed/32904445", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32913468", "url": "https://glygen.org/publication/PubMed/32913468", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32921413", "url": "https://glygen.org/publication/PubMed/32921413", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32922037", "url": "https://glygen.org/publication/PubMed/32922037", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32922194", "url": "https://glygen.org/publication/PubMed/32922194", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32945383", "url": "https://glygen.org/publication/PubMed/32945383", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32945500", "url": "https://glygen.org/publication/PubMed/32945500", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32948740", "url": "https://glygen.org/publication/PubMed/32948740", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32957504", "url": "https://glygen.org/publication/PubMed/32957504", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32962206", "url": "https://glygen.org/publication/PubMed/32962206", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32968045", "url": "https://glygen.org/publication/PubMed/32968045", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32977414", "url": "https://glygen.org/publication/PubMed/32977414", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33006750", "url": "https://glygen.org/publication/PubMed/33006750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33007920", "url": "https://glygen.org/publication/PubMed/33007920", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33008000", "url": "https://glygen.org/publication/PubMed/33008000", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33013390", "url": "https://glygen.org/publication/PubMed/33013390", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33013932", "url": "https://glygen.org/publication/PubMed/33013932", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33015464", "url": "https://glygen.org/publication/PubMed/33015464", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33024816", "url": "https://glygen.org/publication/PubMed/33024816", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33037285", "url": "https://glygen.org/publication/PubMed/33037285", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33038921", "url": "https://glygen.org/publication/PubMed/33038921", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33040080", "url": "https://glygen.org/publication/PubMed/33040080", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33047031", "url": "https://glygen.org/publication/PubMed/33047031", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33054056", "url": "https://glygen.org/publication/PubMed/33054056", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33060766", "url": "https://glygen.org/publication/PubMed/33060766", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33062024", "url": "https://glygen.org/publication/PubMed/33062024", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33071789", "url": "https://glygen.org/publication/PubMed/33071789", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33072436", "url": "https://glygen.org/publication/PubMed/33072436", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33082914", "url": "https://glygen.org/publication/PubMed/33082914", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33101052", "url": "https://glygen.org/publication/PubMed/33101052", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33103284", "url": "https://glygen.org/publication/PubMed/33103284", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33106477", "url": "https://glygen.org/publication/PubMed/33106477", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33114687", "url": "https://glygen.org/publication/PubMed/33114687", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33116125", "url": "https://glygen.org/publication/PubMed/33116125", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33121495", "url": "https://glygen.org/publication/PubMed/33121495", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33125102", "url": "https://glygen.org/publication/PubMed/33125102", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33138025", "url": "https://glygen.org/publication/PubMed/33138025", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33138208", "url": "https://glygen.org/publication/PubMed/33138208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33139695", "url": "https://glygen.org/publication/PubMed/33139695", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33147101", "url": "https://glygen.org/publication/PubMed/33147101", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33150178", "url": "https://glygen.org/publication/PubMed/33150178", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33153119", "url": "https://glygen.org/publication/PubMed/33153119", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33177160", "url": "https://glygen.org/publication/PubMed/33177160", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33179291", "url": "https://glygen.org/publication/PubMed/33179291", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33184290", "url": "https://glygen.org/publication/PubMed/33184290", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33186539", "url": "https://glygen.org/publication/PubMed/33186539", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33193858", "url": "https://glygen.org/publication/PubMed/33193858", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33212946", "url": "https://glygen.org/publication/PubMed/33212946", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33219203", "url": "https://glygen.org/publication/PubMed/33219203", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33240414", "url": "https://glygen.org/publication/PubMed/33240414", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33243998", "url": "https://glygen.org/publication/PubMed/33243998", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33256016", "url": "https://glygen.org/publication/PubMed/33256016", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33266502", "url": "https://glygen.org/publication/PubMed/33266502", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33280832", "url": "https://glygen.org/publication/PubMed/33280832", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33282634", "url": "https://glygen.org/publication/PubMed/33282634", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33293793", "url": "https://glygen.org/publication/PubMed/33293793", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33303839", "url": "https://glygen.org/publication/PubMed/33303839", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33318473", "url": "https://glygen.org/publication/PubMed/33318473", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33318517", "url": "https://glygen.org/publication/PubMed/33318517", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33319180", "url": "https://glygen.org/publication/PubMed/33319180", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33338921", "url": "https://glygen.org/publication/PubMed/33338921", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33363017", "url": "https://glygen.org/publication/PubMed/33363017", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33364504", "url": "https://glygen.org/publication/PubMed/33364504", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33376545", "url": "https://glygen.org/publication/PubMed/33376545", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33390782", "url": "https://glygen.org/publication/PubMed/33390782", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33390959", "url": "https://glygen.org/publication/PubMed/33390959", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33392189", "url": "https://glygen.org/publication/PubMed/33392189", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33407478", "url": "https://glygen.org/publication/PubMed/33407478", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33413430", "url": "https://glygen.org/publication/PubMed/33413430", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33414447", "url": "https://glygen.org/publication/PubMed/33414447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33452459", "url": "https://glygen.org/publication/PubMed/33452459", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33455947", "url": "https://glygen.org/publication/PubMed/33455947", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33468992", "url": "https://glygen.org/publication/PubMed/33468992", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33477701", "url": "https://glygen.org/publication/PubMed/33477701", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33500384", "url": "https://glygen.org/publication/PubMed/33500384", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33506378", "url": "https://glygen.org/publication/PubMed/33506378", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33526785", "url": "https://glygen.org/publication/PubMed/33526785", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33530617", "url": "https://glygen.org/publication/PubMed/33530617", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33535610", "url": "https://glygen.org/publication/PubMed/33535610", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33537819", "url": "https://glygen.org/publication/PubMed/33537819", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33547375", "url": "https://glygen.org/publication/PubMed/33547375", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33552283", "url": "https://glygen.org/publication/PubMed/33552283", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33562475", "url": "https://glygen.org/publication/PubMed/33562475", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33566837", "url": "https://glygen.org/publication/PubMed/33566837", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33571243", "url": "https://glygen.org/publication/PubMed/33571243", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33575473", "url": "https://glygen.org/publication/PubMed/33575473", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33576447", "url": "https://glygen.org/publication/PubMed/33576447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33579227", "url": "https://glygen.org/publication/PubMed/33579227", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33585557", "url": "https://glygen.org/publication/PubMed/33585557", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33588847", "url": "https://glygen.org/publication/PubMed/33588847", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33614493", "url": "https://glygen.org/publication/PubMed/33614493", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33614606", "url": "https://glygen.org/publication/PubMed/33614606", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33615197", "url": "https://glygen.org/publication/PubMed/33615197", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33624300", "url": "https://glygen.org/publication/PubMed/33624300", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33648498", "url": "https://glygen.org/publication/PubMed/33648498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33659212", "url": "https://glygen.org/publication/PubMed/33659212", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33659252", "url": "https://glygen.org/publication/PubMed/33659252", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33664437", "url": "https://glygen.org/publication/PubMed/33664437", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33664847", "url": "https://glygen.org/publication/PubMed/33664847", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33670586", "url": "https://glygen.org/publication/PubMed/33670586", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33672955", "url": "https://glygen.org/publication/PubMed/33672955", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33686185", "url": "https://glygen.org/publication/PubMed/33686185", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33690611", "url": "https://glygen.org/publication/PubMed/33690611", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33718332", "url": "https://glygen.org/publication/PubMed/33718332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33723214", "url": "https://glygen.org/publication/PubMed/33723214", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33723215", "url": "https://glygen.org/publication/PubMed/33723215", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33731670", "url": "https://glygen.org/publication/PubMed/33731670", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33732339", "url": "https://glygen.org/publication/PubMed/33732339", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33742122", "url": "https://glygen.org/publication/PubMed/33742122", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33758209", "url": "https://glygen.org/publication/PubMed/33758209", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33785835", "url": "https://glygen.org/publication/PubMed/33785835", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33802884", "url": "https://glygen.org/publication/PubMed/33802884", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33808215", "url": "https://glygen.org/publication/PubMed/33808215", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33817134", "url": "https://glygen.org/publication/PubMed/33817134", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33817584", "url": "https://glygen.org/publication/PubMed/33817584", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33824274", "url": "https://glygen.org/publication/PubMed/33824274", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33829865", "url": "https://glygen.org/publication/PubMed/33829865", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33837205", "url": "https://glygen.org/publication/PubMed/33837205", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33839702", "url": "https://glygen.org/publication/PubMed/33839702", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33845796", "url": "https://glygen.org/publication/PubMed/33845796", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33850634", "url": "https://glygen.org/publication/PubMed/33850634", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33854967", "url": "https://glygen.org/publication/PubMed/33854967", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33858515", "url": "https://glygen.org/publication/PubMed/33858515", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33867823", "url": "https://glygen.org/publication/PubMed/33867823", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33868237", "url": "https://glygen.org/publication/PubMed/33868237", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33868471", "url": "https://glygen.org/publication/PubMed/33868471", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33874915", "url": "https://glygen.org/publication/PubMed/33874915", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33916378", "url": "https://glygen.org/publication/PubMed/33916378", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33959030", "url": "https://glygen.org/publication/PubMed/33959030", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33967735", "url": "https://glygen.org/publication/PubMed/33967735", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34033176", "url": "https://glygen.org/publication/PubMed/34033176", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34073781", "url": "https://glygen.org/publication/PubMed/34073781", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34200497", "url": "https://glygen.org/publication/PubMed/34200497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34522717", "url": "https://glygen.org/publication/PubMed/34522717", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34589963", "url": "https://glygen.org/publication/PubMed/34589963", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34909046", "url": "https://glygen.org/publication/PubMed/34909046", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34918581", "url": "https://glygen.org/publication/PubMed/34918581", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34938598", "url": "https://glygen.org/publication/PubMed/34938598", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34995578", "url": "https://glygen.org/publication/PubMed/34995578", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35008578", "url": "https://glygen.org/publication/PubMed/35008578", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35126712", "url": "https://glygen.org/publication/PubMed/35126712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35250564", "url": "https://glygen.org/publication/PubMed/35250564", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35269443", "url": "https://glygen.org/publication/PubMed/35269443", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35271909", "url": "https://glygen.org/publication/PubMed/35271909", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35347116", "url": "https://glygen.org/publication/PubMed/35347116", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35366279", "url": "https://glygen.org/publication/PubMed/35366279", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35514261", "url": "https://glygen.org/publication/PubMed/35514261", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35641033", "url": "https://glygen.org/publication/PubMed/35641033", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35661967", "url": "https://glygen.org/publication/PubMed/35661967", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35731713", "url": "https://glygen.org/publication/PubMed/35731713", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35783523", "url": "https://glygen.org/publication/PubMed/35783523", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35918763", "url": "https://glygen.org/publication/PubMed/35918763", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35929438", "url": "https://glygen.org/publication/PubMed/35929438", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35954193", "url": "https://glygen.org/publication/PubMed/35954193", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35977495", "url": "https://glygen.org/publication/PubMed/35977495", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36041631", "url": "https://glygen.org/publication/PubMed/36041631", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36115854", "url": "https://glygen.org/publication/PubMed/36115854", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36142605", "url": "https://glygen.org/publication/PubMed/36142605", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36174454", "url": "https://glygen.org/publication/PubMed/36174454", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36182968", "url": "https://glygen.org/publication/PubMed/36182968", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36222151", "url": "https://glygen.org/publication/PubMed/36222151", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36222195", "url": "https://glygen.org/publication/PubMed/36222195", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36314765", "url": "https://glygen.org/publication/PubMed/36314765", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36404440", "url": "https://glygen.org/publication/PubMed/36404440", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36406198", "url": "https://glygen.org/publication/PubMed/36406198", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36444808", "url": "https://glygen.org/publication/PubMed/36444808", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9094314", "url": "https://glygen.org/publication/PubMed/9094314", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9722592", "url": "https://glygen.org/publication/PubMed/9722592", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9850049", "url": "https://glygen.org/publication/PubMed/9850049", "database": "PubMed", "categories": [ "Other" ] }, { "id": "9857186", "url": "https://glygen.org/publication/PubMed/9857186", "database": "PubMed", "categories": [ "Other" ] }, { "id": "15047712", "url": "https://glygen.org/publication/PubMed/15047712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16266983", "url": "https://glygen.org/publication/PubMed/16266983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20333297", "url": "https://glygen.org/publication/PubMed/20333297", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20978158", "url": "https://glygen.org/publication/PubMed/20978158", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14761976", "url": "https://glygen.org/publication/PubMed/14761976", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DQDDSMECVDSERRPHFPQF", "down_seq": "YSASGTA", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser473", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "P31749", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P31749" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "18728220", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18728220" }, { "id": "32830957", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32830957" }, { "id": "22629392", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22629392" }, { "id": "32892442", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32892442" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "26412745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26412745" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "16684529", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16684529" }, { "id": "30100348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30100348" }, { "id": "22564745", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22564745" }, { "id": "20668475", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20668475" }, { "id": "29706631", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29706631" }, { "id": "22687243", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22687243" }, { "id": "P31749", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P31749" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine;O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser473", "evidence": [ { "id": "P31749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31749#ptm_processing" }, { "id": "26333304", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26333304" }, { "id": "GLY_000481", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000481" }, { "id": "34941261", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34941261" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "D", "comment": "7-fold activation and 25-fold activation; when associated with D-308.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "12244301", "url": "https://glygen.org/publication/PubMed/12244301" }, { "database": "PubMed", "id": "8978681", "url": "https://glygen.org/publication/PubMed/8978681" } ] } ], "snv": [ { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "14", "chr_pos": "104770366", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S473", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "O15530-1", "kinase_gene_name": "PDPK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "10226025", "url": "https://glygen.org/publication/PubMed/10226025" } ], "site_lbl": "Ser473" }, { "kinase_uniprot_canonical_ac": "P05771-1", "kinase_gene_name": "PRKCB", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "10874027", "url": "https://glygen.org/publication/PubMed/10874027" }, { "database": "PubMed", "id": "19686698", "url": "https://glygen.org/publication/PubMed/19686698" } ], "site_lbl": "Ser473" }, { "kinase_uniprot_canonical_ac": "P17252-1", "kinase_gene_name": "PRKCA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "10874027", "url": "https://glygen.org/publication/PubMed/10874027" } ], "site_lbl": "Ser473" }, { "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "17634416", "url": "https://glygen.org/publication/PubMed/17634416" } ], "site_lbl": "Ser473" }, { "kinase_uniprot_canonical_ac": "P31749-1", "kinase_gene_name": "AKT1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "25719244", "url": "https://glygen.org/publication/PubMed/25719244" } ], "site_lbl": "Ser473" }, { "kinase_uniprot_canonical_ac": "P42345-1", "kinase_gene_name": "MTOR", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "15718470", "url": "https://glygen.org/publication/PubMed/15718470" }, { "database": "PubMed", "id": "21157483", "url": "https://glygen.org/publication/PubMed/21157483" }, { "database": "PubMed", "id": "21592956", "url": "https://glygen.org/publication/PubMed/21592956" } ], "site_lbl": "Ser473" }, { "kinase_uniprot_canonical_ac": "P49137-1", "kinase_gene_name": "MAPKAPK2", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "8978681", "url": "https://glygen.org/publication/PubMed/8978681" } ], "site_lbl": "Ser473" }, { "kinase_uniprot_canonical_ac": "P78527-1", "kinase_gene_name": "PRKDC", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "15678105", "url": "https://glygen.org/publication/PubMed/15678105" }, { "database": "PubMed", "id": "19144640", "url": "https://glygen.org/publication/PubMed/19144640" }, { "database": "PubMed", "id": "18439899", "url": "https://glygen.org/publication/PubMed/18439899" } ], "site_lbl": "Ser473" }, { "kinase_uniprot_canonical_ac": "Q07912-1", "kinase_gene_name": "TNK2", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "25678401", "url": "https://glygen.org/publication/PubMed/25678401" } ], "site_lbl": "Ser473" }, { "kinase_uniprot_canonical_ac": "Q13153-1", "kinase_gene_name": "PAK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "18054038", "url": "https://glygen.org/publication/PubMed/18054038" } ], "site_lbl": "Ser473" }, { "kinase_uniprot_canonical_ac": "Q13418-1", "kinase_gene_name": "ILK", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "9736715", "url": "https://glygen.org/publication/PubMed/9736715" }, { "database": "PubMed", "id": "11313365", "url": "https://glygen.org/publication/PubMed/11313365" }, { "database": "PubMed", "id": "23840605", "url": "https://glygen.org/publication/PubMed/23840605" } ], "site_lbl": "Ser473" }, { "kinase_uniprot_canonical_ac": "Q14164-1", "kinase_gene_name": "IKBKE", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "21464307", "url": "https://glygen.org/publication/PubMed/21464307" } ], "site_lbl": "Ser473" }, { "kinase_uniprot_canonical_ac": "Q15118-1", "kinase_gene_name": "PDK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "11278835", "url": "https://glygen.org/publication/PubMed/11278835" } ], "site_lbl": "Ser473" }, { "kinase_uniprot_canonical_ac": "Q5S007-1", "kinase_gene_name": "LRRK2", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "21658387", "url": "https://glygen.org/publication/PubMed/21658387" }, { "database": "PubMed", "id": "24916379", "url": "https://glygen.org/publication/PubMed/24916379" } ], "site_lbl": "Ser473" }, { "kinase_uniprot_canonical_ac": "Q8TAI7-1", "kinase_gene_name": "RHEBL1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "16098514", "url": "https://glygen.org/publication/PubMed/16098514" } ], "site_lbl": "Ser473" }, { "kinase_uniprot_canonical_ac": "Q96KB5-1", "kinase_gene_name": "PBK", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "21996732", "url": "https://glygen.org/publication/PubMed/21996732" } ], "site_lbl": "Ser473" }, { "kinase_uniprot_canonical_ac": "Q9UHD2-1", "kinase_gene_name": "TBK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "21106850", "url": "https://glygen.org/publication/PubMed/21106850" }, { "database": "PubMed", "id": "21464307", "url": "https://glygen.org/publication/PubMed/21464307" }, { "database": "PubMed", "id": "21329883", "url": "https://glygen.org/publication/PubMed/21329883" } ], "site_lbl": "Ser473" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by IKKE, MTOR, PRKDC and TBK1; alternate", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "11445557", "url": "https://glygen.org/publication/PubMed/11445557" }, { "database": "PubMed", "id": "11723139", "url": "https://glygen.org/publication/PubMed/11723139" }, { "database": "PubMed", "id": "12149249", "url": "https://glygen.org/publication/PubMed/12149249" }, { "database": "PubMed", "id": "12176337", "url": "https://glygen.org/publication/PubMed/12176337" }, { "database": "PubMed", "id": "14500673", "url": "https://glygen.org/publication/PubMed/14500673" }, { "database": "PubMed", "id": "16253990", "url": "https://glygen.org/publication/PubMed/16253990" }, { "database": "PubMed", "id": "16603397", "url": "https://glygen.org/publication/PubMed/16603397" }, { "database": "PubMed", "id": "16917505", "url": "https://glygen.org/publication/PubMed/16917505" }, { "database": "PubMed", "id": "16260598", "url": "https://glygen.org/publication/PubMed/16260598" }, { "database": "IntAct", "id": "P31749", "url": "https://www.ebi.ac.uk/intact/interactors/id:P31749*" }, { "database": "PubMed", "id": "21658387", "url": "https://glygen.org/publication/PubMed/21658387" }, { "database": "PubMed", "id": "18650932", "url": "https://glygen.org/publication/PubMed/18650932" }, { "database": "PubMed", "id": "16437163", "url": "https://glygen.org/publication/PubMed/16437163" }, { "database": "PubMed", "id": "21965657", "url": "https://glygen.org/publication/PubMed/21965657" }, { "database": "PRO", "id": "P31749", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P31749" }, { "database": "PubMed", "id": "16549426", "url": "https://glygen.org/publication/PubMed/16549426" }, { "database": "PubMed", "id": "8978681", "url": "https://glygen.org/publication/PubMed/8978681" }, { "database": "PubMed", "id": "10226025", "url": "https://glygen.org/publication/PubMed/10226025" }, { "database": "PubMed", "id": "10226029", "url": "https://glygen.org/publication/PubMed/10226029" }, { "database": "PubMed", "id": "10477751", "url": "https://glygen.org/publication/PubMed/10477751" }, { "database": "PubMed", "id": "10488096", "url": "https://glygen.org/publication/PubMed/10488096" }, { "database": "PubMed", "id": "10579725", "url": "https://glygen.org/publication/PubMed/10579725" }, { "database": "PubMed", "id": "10601235", "url": "https://glygen.org/publication/PubMed/10601235" }, { "database": "PubMed", "id": "10716737", "url": "https://glygen.org/publication/PubMed/10716737" }, { "database": "PubMed", "id": "10722653", "url": "https://glygen.org/publication/PubMed/10722653" }, { "database": "PubMed", "id": "10746662", "url": "https://glygen.org/publication/PubMed/10746662" }, { "database": "PubMed", "id": "10825497", "url": "https://glygen.org/publication/PubMed/10825497" }, { "database": "PubMed", "id": "10827191", "url": "https://glygen.org/publication/PubMed/10827191" }, { "database": "PubMed", "id": "10874027", "url": "https://glygen.org/publication/PubMed/10874027" }, { "database": "PubMed", "id": "10898514", "url": "https://glygen.org/publication/PubMed/10898514" }, { "database": "PubMed", "id": "10908564", "url": "https://glygen.org/publication/PubMed/10908564" }, { "database": "PubMed", "id": "10949937", "url": "https://glygen.org/publication/PubMed/10949937" }, { "database": "PubMed", "id": "10958690", "url": "https://glygen.org/publication/PubMed/10958690" }, { "database": "PubMed", "id": "10986289", "url": "https://glygen.org/publication/PubMed/10986289" }, { "database": "PubMed", "id": "10994851", "url": "https://glygen.org/publication/PubMed/10994851" }, { "database": "PubMed", "id": "11003625", "url": "https://glygen.org/publication/PubMed/11003625" }, { "database": "PubMed", "id": "11007949", "url": "https://glygen.org/publication/PubMed/11007949" }, { "database": "PubMed", "id": "11027222", "url": "https://glygen.org/publication/PubMed/11027222" }, { "database": "PubMed", "id": "11029403", "url": "https://glygen.org/publication/PubMed/11029403" }, { "database": "PubMed", "id": "11042204", "url": "https://glygen.org/publication/PubMed/11042204" }, { "database": "PubMed", "id": "11162573", "url": "https://glygen.org/publication/PubMed/11162573" }, { "database": "PubMed", "id": "11162641", "url": "https://glygen.org/publication/PubMed/11162641" }, { "database": "PubMed", "id": "11162904", "url": "https://glygen.org/publication/PubMed/11162904" }, { "database": "PubMed", "id": "11208609", "url": "https://glygen.org/publication/PubMed/11208609" }, { "database": "PubMed", "id": "11278269", "url": "https://glygen.org/publication/PubMed/11278269" }, { "database": "PubMed", "id": "11289110", "url": "https://glygen.org/publication/PubMed/11289110" }, { "database": "PubMed", "id": "11311245", "url": "https://glygen.org/publication/PubMed/11311245" }, { "database": "PubMed", "id": "11313365", "url": "https://glygen.org/publication/PubMed/11313365" }, { "database": "PubMed", "id": "11323521", "url": "https://glygen.org/publication/PubMed/11323521" }, { "database": "PubMed", "id": "11340092", "url": "https://glygen.org/publication/PubMed/11340092" }, { "database": "PubMed", "id": "11350959", "url": "https://glygen.org/publication/PubMed/11350959" }, { "database": "PubMed", "id": "11358816", "url": "https://glygen.org/publication/PubMed/11358816" }, { "database": "PubMed", "id": "11359783", "url": "https://glygen.org/publication/PubMed/11359783" }, { "database": "PubMed", "id": "11389054", "url": "https://glygen.org/publication/PubMed/11389054" }, { "database": "PubMed", "id": "11409731", "url": "https://glygen.org/publication/PubMed/11409731" }, { "database": "PubMed", "id": "11602740", "url": "https://glygen.org/publication/PubMed/11602740" }, { "database": "PubMed", "id": "11679435", "url": "https://glygen.org/publication/PubMed/11679435" }, { "database": "PubMed", "id": "11711890", "url": "https://glygen.org/publication/PubMed/11711890" }, { "database": "PubMed", "id": "11731021", "url": "https://glygen.org/publication/PubMed/11731021" }, { "database": "PubMed", "id": "11731414", "url": "https://glygen.org/publication/PubMed/11731414" }, { "database": "PubMed", "id": "11752635", "url": "https://glygen.org/publication/PubMed/11752635" }, { "database": "PubMed", "id": "11756242", "url": "https://glygen.org/publication/PubMed/11756242" }, { "database": "PubMed", "id": "11777539", "url": "https://glygen.org/publication/PubMed/11777539" }, { "database": "PubMed", "id": "11818508", "url": "https://glygen.org/publication/PubMed/11818508" }, { "database": "PubMed", "id": "11825911", "url": "https://glygen.org/publication/PubMed/11825911" }, { "database": "PubMed", "id": "11902114", "url": "https://glygen.org/publication/PubMed/11902114" }, { "database": "PubMed", "id": "11960368", "url": "https://glygen.org/publication/PubMed/11960368" }, { "database": "PubMed", "id": "12000750", "url": "https://glygen.org/publication/PubMed/12000750" }, { "database": "PubMed", "id": "12000752", "url": "https://glygen.org/publication/PubMed/12000752" }, { "database": "PubMed", "id": "12034358", "url": "https://glygen.org/publication/PubMed/12034358" }, { "database": "PubMed", "id": "12060641", "url": "https://glygen.org/publication/PubMed/12060641" }, { "database": "PubMed", "id": "12070228", "url": "https://glygen.org/publication/PubMed/12070228" }, { "database": "PubMed", "id": "12089369", "url": "https://glygen.org/publication/PubMed/12089369" }, { "database": "PubMed", "id": "12105188", "url": "https://glygen.org/publication/PubMed/12105188" }, { "database": "PubMed", "id": "12115344", "url": "https://glygen.org/publication/PubMed/12115344" }, { "database": "PubMed", "id": "12164932", "url": "https://glygen.org/publication/PubMed/12164932" }, { "database": "PubMed", "id": "12171932", "url": "https://glygen.org/publication/PubMed/12171932" }, { "database": "PubMed", "id": "12181443", "url": "https://glygen.org/publication/PubMed/12181443" }, { "database": "PubMed", "id": "12198650", "url": "https://glygen.org/publication/PubMed/12198650" }, { "database": "PubMed", "id": "12208782", "url": "https://glygen.org/publication/PubMed/12208782" }, { "database": "PubMed", "id": "12210737", "url": "https://glygen.org/publication/PubMed/12210737" }, { "database": "PubMed", "id": "12351701", "url": "https://glygen.org/publication/PubMed/12351701" }, { "database": "PubMed", "id": "12370495", "url": "https://glygen.org/publication/PubMed/12370495" }, { "database": "PubMed", "id": "12373610", "url": "https://glygen.org/publication/PubMed/12373610" }, { "database": "PubMed", "id": "12401518", "url": "https://glygen.org/publication/PubMed/12401518" }, { "database": "PubMed", "id": "12429987", "url": "https://glygen.org/publication/PubMed/12429987" }, { "database": "PubMed", "id": "12438236", "url": "https://glygen.org/publication/PubMed/12438236" }, { "database": "PubMed", "id": "12446602", "url": "https://glygen.org/publication/PubMed/12446602" }, { "database": "PubMed", "id": "12466352", "url": "https://glygen.org/publication/PubMed/12466352" }, { "database": "PubMed", "id": "12504922", "url": "https://glygen.org/publication/PubMed/12504922" }, { "database": "PubMed", "id": "12556562", "url": "https://glygen.org/publication/PubMed/12556562" }, { "database": "PubMed", "id": "12606948", "url": "https://glygen.org/publication/PubMed/12606948" }, { "database": "PubMed", "id": "12644590", "url": "https://glygen.org/publication/PubMed/12644590" }, { "database": "PubMed", "id": "12644839", "url": "https://glygen.org/publication/PubMed/12644839" }, { "database": "PubMed", "id": "12649200", "url": "https://glygen.org/publication/PubMed/12649200" }, { "database": "PubMed", "id": "12654898", "url": "https://glygen.org/publication/PubMed/12654898" }, { "database": "PubMed", "id": "12657951", "url": "https://glygen.org/publication/PubMed/12657951" }, { "database": "PubMed", "id": "12682057", "url": "https://glygen.org/publication/PubMed/12682057" }, { "database": "PubMed", "id": "12686550", "url": "https://glygen.org/publication/PubMed/12686550" }, { "database": "PubMed", "id": "12763754", "url": "https://glygen.org/publication/PubMed/12763754" }, { "database": "PubMed", "id": "12801607", "url": "https://glygen.org/publication/PubMed/12801607" }, { "database": "PubMed", "id": "12835332", "url": "https://glygen.org/publication/PubMed/12835332" }, { "database": "PubMed", "id": "12838322", "url": "https://glygen.org/publication/PubMed/12838322" }, { "database": "PubMed", "id": "12839924", "url": "https://glygen.org/publication/PubMed/12839924" }, { "database": "PubMed", "id": "12869408", "url": "https://glygen.org/publication/PubMed/12869408" }, { "database": "PubMed", "id": "12876303", "url": "https://glygen.org/publication/PubMed/12876303" }, { "database": "PubMed", "id": "12939297", "url": "https://glygen.org/publication/PubMed/12939297" }, { "database": "PubMed", "id": "14550274", "url": "https://glygen.org/publication/PubMed/14550274" }, { "database": "PubMed", "id": "14551191", "url": "https://glygen.org/publication/PubMed/14551191" }, { "database": "PubMed", "id": "14568991", "url": "https://glygen.org/publication/PubMed/14568991" }, { "database": "PubMed", "id": "14603261", "url": "https://glygen.org/publication/PubMed/14603261" }, { "database": "PubMed", "id": "14660586", "url": "https://glygen.org/publication/PubMed/14660586" }, { "database": "PubMed", "id": "14668339", "url": "https://glygen.org/publication/PubMed/14668339" }, { "database": "PubMed", "id": "14707121", "url": "https://glygen.org/publication/PubMed/14707121" }, { "database": "PubMed", "id": "14727512", "url": "https://glygen.org/publication/PubMed/14727512" }, { "database": "PubMed", "id": "14747535", "url": "https://glygen.org/publication/PubMed/14747535" }, { "database": "PubMed", "id": "14767876", "url": "https://glygen.org/publication/PubMed/14767876" }, { "database": "PubMed", "id": "14769856", "url": "https://glygen.org/publication/PubMed/14769856" }, { "database": "PubMed", "id": "14971662", "url": "https://glygen.org/publication/PubMed/14971662" }, { "database": "PubMed", "id": "14971663", "url": "https://glygen.org/publication/PubMed/14971663" }, { "database": "PubMed", "id": "14981538", "url": "https://glygen.org/publication/PubMed/14981538" }, { "database": "PubMed", "id": "14990993", "url": "https://glygen.org/publication/PubMed/14990993" }, { "database": "PubMed", "id": "15010337", "url": "https://glygen.org/publication/PubMed/15010337" }, { "database": "PubMed", "id": "15026145", "url": "https://glygen.org/publication/PubMed/15026145" }, { "database": "PubMed", "id": "15044083", "url": "https://glygen.org/publication/PubMed/15044083" }, { "database": "PubMed", "id": "15047168", "url": "https://glygen.org/publication/PubMed/15047168" }, { "database": "PubMed", "id": "15048882", "url": "https://glygen.org/publication/PubMed/15048882" }, { "database": "PubMed", "id": "15050414", "url": "https://glygen.org/publication/PubMed/15050414" }, { "database": "PubMed", "id": "15084475", "url": "https://glygen.org/publication/PubMed/15084475" }, { "database": "PubMed", "id": "15122336", "url": "https://glygen.org/publication/PubMed/15122336" }, { "database": "PubMed", "id": "15138635", "url": "https://glygen.org/publication/PubMed/15138635" }, { "database": "PubMed", "id": "15150572", "url": "https://glygen.org/publication/PubMed/15150572" }, { "database": "PubMed", "id": "15157674", "url": "https://glygen.org/publication/PubMed/15157674" }, { "database": "PubMed", "id": "15176055", "url": "https://glygen.org/publication/PubMed/15176055" }, { "database": "PubMed", "id": "15183529", "url": "https://glygen.org/publication/PubMed/15183529" }, { "database": "PubMed", "id": "15289328", "url": "https://glygen.org/publication/PubMed/15289328" }, { "database": "PubMed", "id": "15289499", "url": "https://glygen.org/publication/PubMed/15289499" }, { "database": "PubMed", "id": "15309026", "url": "https://glygen.org/publication/PubMed/15309026" }, { "database": "PubMed", "id": "15319269", "url": "https://glygen.org/publication/PubMed/15319269" }, { "database": "PubMed", "id": "15327518", "url": "https://glygen.org/publication/PubMed/15327518" }, { "database": "PubMed", "id": "15339992", "url": "https://glygen.org/publication/PubMed/15339992" }, { "database": "PubMed", "id": "15353558", "url": "https://glygen.org/publication/PubMed/15353558" }, { "database": "PubMed", "id": "15364809", "url": "https://glygen.org/publication/PubMed/15364809" }, { "database": "PubMed", "id": "15364915", "url": "https://glygen.org/publication/PubMed/15364915" }, { "database": "PubMed", "id": "15372623", "url": "https://glygen.org/publication/PubMed/15372623" }, { "database": "PubMed", "id": "15456405", "url": "https://glygen.org/publication/PubMed/15456405" }, { "database": "PubMed", "id": "15475446", "url": "https://glygen.org/publication/PubMed/15475446" }, { "database": "PubMed", "id": "15489214", "url": "https://glygen.org/publication/PubMed/15489214" }, { "database": "PubMed", "id": "15505622", "url": "https://glygen.org/publication/PubMed/15505622" }, { "database": "PubMed", "id": "15546863", "url": "https://glygen.org/publication/PubMed/15546863" }, { "database": "PubMed", "id": "15574783", "url": "https://glygen.org/publication/PubMed/15574783" }, { "database": "PubMed", "id": "15657900", "url": "https://glygen.org/publication/PubMed/15657900" }, { "database": "PubMed", "id": "15671247", "url": "https://glygen.org/publication/PubMed/15671247" }, { "database": "PubMed", "id": "15684397", "url": "https://glygen.org/publication/PubMed/15684397" }, { "database": "PubMed", "id": "15706421", "url": "https://glygen.org/publication/PubMed/15706421" }, { "database": "PubMed", "id": "15718470", "url": "https://glygen.org/publication/PubMed/15718470" }, { "database": "PubMed", "id": "15733940", "url": "https://glygen.org/publication/PubMed/15733940" }, { "database": "PubMed", "id": "15738003", "url": "https://glygen.org/publication/PubMed/15738003" }, { "database": "PubMed", "id": "15755769", "url": "https://glygen.org/publication/PubMed/15755769" }, { "database": "PubMed", "id": "15782140", "url": "https://glygen.org/publication/PubMed/15782140" }, { "database": "PubMed", "id": "15805282", "url": "https://glygen.org/publication/PubMed/15805282" }, { "database": "PubMed", "id": "15805287", "url": "https://glygen.org/publication/PubMed/15805287" }, { "database": "PubMed", "id": "15862750", "url": "https://glygen.org/publication/PubMed/15862750" }, { "database": "PubMed", "id": "15867245", "url": "https://glygen.org/publication/PubMed/15867245" }, { "database": "PubMed", "id": "15867390", "url": "https://glygen.org/publication/PubMed/15867390" }, { "database": "PubMed", "id": "15870708", "url": "https://glygen.org/publication/PubMed/15870708" }, { "database": "PubMed", "id": "15870831", "url": "https://glygen.org/publication/PubMed/15870831" }, { "database": "PubMed", "id": "15919790", "url": "https://glygen.org/publication/PubMed/15919790" }, { "database": "PubMed", "id": "15942714", "url": "https://glygen.org/publication/PubMed/15942714" }, { "database": "PubMed", "id": "15943787", "url": "https://glygen.org/publication/PubMed/15943787" }, { "database": "PubMed", "id": "15944217", "url": "https://glygen.org/publication/PubMed/15944217" }, { "database": "PubMed", "id": "15987444", "url": "https://glygen.org/publication/PubMed/15987444" }, { "database": "PubMed", "id": "15998799", "url": "https://glygen.org/publication/PubMed/15998799" }, { "database": "PubMed", "id": "16009706", "url": "https://glygen.org/publication/PubMed/16009706" }, { "database": "PubMed", "id": "16009726", "url": "https://glygen.org/publication/PubMed/16009726" }, { "database": "PubMed", "id": "16018579", "url": "https://glygen.org/publication/PubMed/16018579" }, { "database": "PubMed", "id": "16049961", "url": "https://glygen.org/publication/PubMed/16049961" }, { "database": "PubMed", "id": "16100524", "url": "https://glygen.org/publication/PubMed/16100524" }, { "database": "PubMed", "id": "16133873", "url": "https://glygen.org/publication/PubMed/16133873" }, { "database": "PubMed", "id": "16166302", "url": "https://glygen.org/publication/PubMed/16166302" }, { "database": "PubMed", "id": "16168102", "url": "https://glygen.org/publication/PubMed/16168102" }, { "database": "PubMed", "id": "16168126", "url": "https://glygen.org/publication/PubMed/16168126" }, { "database": "PubMed", "id": "16169930", "url": "https://glygen.org/publication/PubMed/16169930" }, { "database": "PubMed", "id": "16172130", "url": "https://glygen.org/publication/PubMed/16172130" }, { "database": "PubMed", "id": "16182322", "url": "https://glygen.org/publication/PubMed/16182322" }, { "database": "PubMed", "id": "16195476", "url": "https://glygen.org/publication/PubMed/16195476" }, { "database": "PubMed", "id": "16210322", "url": "https://glygen.org/publication/PubMed/16210322" }, { "database": "PubMed", "id": "16221682", "url": "https://glygen.org/publication/PubMed/16221682" }, { "database": "PubMed", "id": "16224792", "url": "https://glygen.org/publication/PubMed/16224792" }, { "database": "PubMed", "id": "16275989", "url": "https://glygen.org/publication/PubMed/16275989" }, { "database": "PubMed", "id": "16287065", "url": "https://glygen.org/publication/PubMed/16287065" }, { "database": "PubMed", "id": "16288304", "url": "https://glygen.org/publication/PubMed/16288304" }, { "database": "PubMed", "id": "16299382", "url": "https://glygen.org/publication/PubMed/16299382" }, { "database": "PubMed", "id": "16306364", "url": "https://glygen.org/publication/PubMed/16306364" }, { "database": "PubMed", "id": "16322209", "url": "https://glygen.org/publication/PubMed/16322209" }, { "database": "PubMed", "id": "16330671", "url": "https://glygen.org/publication/PubMed/16330671" }, { "database": "PubMed", "id": "16341040", "url": "https://glygen.org/publication/PubMed/16341040" }, { "database": "PubMed", "id": "16397250", "url": "https://glygen.org/publication/PubMed/16397250" }, { "database": "PubMed", "id": "16475687", "url": "https://glygen.org/publication/PubMed/16475687" }, { "database": "PubMed", "id": "16497409", "url": "https://glygen.org/publication/PubMed/16497409" }, { "database": "PubMed", "id": "16505097", "url": "https://glygen.org/publication/PubMed/16505097" }, { "database": "PubMed", "id": "16531397", "url": "https://glygen.org/publication/PubMed/16531397" }, { "database": "PubMed", "id": "16537601", "url": "https://glygen.org/publication/PubMed/16537601" }, { "database": "PubMed", "id": "16543232", "url": "https://glygen.org/publication/PubMed/16543232" }, { "database": "PubMed", "id": "16545678", "url": "https://glygen.org/publication/PubMed/16545678" }, { "database": "PubMed", "id": "16546978", "url": "https://glygen.org/publication/PubMed/16546978" }, { "database": "PubMed", "id": "16546979", "url": "https://glygen.org/publication/PubMed/16546979" }, { "database": "PubMed", "id": "16567092", "url": "https://glygen.org/publication/PubMed/16567092" }, { "database": "PubMed", "id": "16585200", "url": "https://glygen.org/publication/PubMed/16585200" }, { "database": "PubMed", "id": "16619521", "url": "https://glygen.org/publication/PubMed/16619521" }, { "database": "PubMed", "id": "16636132", "url": "https://glygen.org/publication/PubMed/16636132" }, { "database": "PubMed", "id": "16636147", "url": "https://glygen.org/publication/PubMed/16636147" }, { "database": "PubMed", "id": "16722146", "url": "https://glygen.org/publication/PubMed/16722146" }, { "database": "PubMed", "id": "16731842", "url": "https://glygen.org/publication/PubMed/16731842" }, { "database": "PubMed", "id": "16759849", "url": "https://glygen.org/publication/PubMed/16759849" }, { "database": "PubMed", "id": "16763108", "url": "https://glygen.org/publication/PubMed/16763108" }, { "database": "PubMed", "id": "16785234", "url": "https://glygen.org/publication/PubMed/16785234" }, { "database": "PubMed", "id": "16785763", "url": "https://glygen.org/publication/PubMed/16785763" }, { "database": "PubMed", "id": "16886599", "url": "https://glygen.org/publication/PubMed/16886599" }, { "database": "PubMed", "id": "16895802", "url": "https://glygen.org/publication/PubMed/16895802" }, { "database": "PubMed", "id": "16940331", "url": "https://glygen.org/publication/PubMed/16940331" }, { "database": "PubMed", "id": "16942862", "url": "https://glygen.org/publication/PubMed/16942862" }, { "database": "PubMed", "id": "16951134", "url": "https://glygen.org/publication/PubMed/16951134" }, { "database": "PubMed", "id": "16962287", "url": "https://glygen.org/publication/PubMed/16962287" }, { "database": "PubMed", "id": "16962653", "url": "https://glygen.org/publication/PubMed/16962653" }, { "database": "PubMed", "id": "16987028", "url": "https://glygen.org/publication/PubMed/16987028" }, { "database": "PubMed", "id": "16987514", "url": "https://glygen.org/publication/PubMed/16987514" }, { "database": "PubMed", "id": "17003457", "url": "https://glygen.org/publication/PubMed/17003457" }, { "database": "PubMed", "id": "17007924", "url": "https://glygen.org/publication/PubMed/17007924" }, { "database": "PubMed", "id": "17013611", "url": "https://glygen.org/publication/PubMed/17013611" }, { "database": "PubMed", "id": "17016648", "url": "https://glygen.org/publication/PubMed/17016648" }, { "database": "PubMed", "id": "17028898", "url": "https://glygen.org/publication/PubMed/17028898" }, { "database": "PubMed", "id": "17041888", "url": "https://glygen.org/publication/PubMed/17041888" }, { "database": "PubMed", "id": "17062729", "url": "https://glygen.org/publication/PubMed/17062729" }, { "database": "PubMed", "id": "17077344", "url": "https://glygen.org/publication/PubMed/17077344" }, { "database": "PubMed", "id": "17096325", "url": "https://glygen.org/publication/PubMed/17096325" }, { "database": "PubMed", "id": "17106060", "url": "https://glygen.org/publication/PubMed/17106060" }, { "database": "PubMed", "id": "17156483", "url": "https://glygen.org/publication/PubMed/17156483" }, { "database": "PubMed", "id": "17158952", "url": "https://glygen.org/publication/PubMed/17158952" }, { "database": "PubMed", "id": "17178855", "url": "https://glygen.org/publication/PubMed/17178855" }, { "database": "PubMed", "id": "17196679", "url": "https://glygen.org/publication/PubMed/17196679" }, { "database": "PubMed", "id": "17196933", "url": "https://glygen.org/publication/PubMed/17196933" }, { "database": "PubMed", "id": "17234785", "url": "https://glygen.org/publication/PubMed/17234785" }, { "database": "PubMed", "id": "17237292", "url": "https://glygen.org/publication/PubMed/17237292" }, { "database": "PubMed", "id": "17259384", "url": "https://glygen.org/publication/PubMed/17259384" }, { "database": "PubMed", "id": "17300726", "url": "https://glygen.org/publication/PubMed/17300726" }, { "database": "PubMed", "id": "17308356", "url": "https://glygen.org/publication/PubMed/17308356" }, { "database": "PubMed", "id": "17309805", "url": "https://glygen.org/publication/PubMed/17309805" }, { "database": "PubMed", "id": "17334390", "url": "https://glygen.org/publication/PubMed/17334390" }, { "database": "PubMed", "id": "17339610", "url": "https://glygen.org/publication/PubMed/17339610" }, { "database": "PubMed", "id": "17342093", "url": "https://glygen.org/publication/PubMed/17342093" }, { "database": "PubMed", "id": "17342096", "url": "https://glygen.org/publication/PubMed/17342096" }, { "database": "PubMed", "id": "17342203", "url": "https://glygen.org/publication/PubMed/17342203" }, { "database": "PubMed", "id": "17372251", "url": "https://glygen.org/publication/PubMed/17372251" }, { "database": "PubMed", "id": "17400190", "url": "https://glygen.org/publication/PubMed/17400190" }, { "database": "PubMed", "id": "17407381", "url": "https://glygen.org/publication/PubMed/17407381" }, { "database": "PubMed", "id": "17442374", "url": "https://glygen.org/publication/PubMed/17442374" }, { "database": "PubMed", "id": "17468516", "url": "https://glygen.org/publication/PubMed/17468516" }, { "database": "PubMed", "id": "17545609", "url": "https://glygen.org/publication/PubMed/17545609" }, { "database": "PubMed", "id": "17548608", "url": "https://glygen.org/publication/PubMed/17548608" }, { "database": "PubMed", "id": "17549359", "url": "https://glygen.org/publication/PubMed/17549359" }, { "database": "PubMed", "id": "17556533", "url": "https://glygen.org/publication/PubMed/17556533" }, { "database": "PubMed", "id": "17562705", "url": "https://glygen.org/publication/PubMed/17562705" }, { "database": "PubMed", "id": "17594810", "url": "https://glygen.org/publication/PubMed/17594810" }, { "database": "PubMed", "id": "17615157", "url": "https://glygen.org/publication/PubMed/17615157" }, { "database": "PubMed", "id": "17622239", "url": "https://glygen.org/publication/PubMed/17622239" }, { "database": "PubMed", "id": "17623090", "url": "https://glygen.org/publication/PubMed/17623090" }, { "database": "PubMed", "id": "17634416", "url": "https://glygen.org/publication/PubMed/17634416" }, { "database": "PubMed", "id": "17640984", "url": "https://glygen.org/publication/PubMed/17640984" }, { "database": "PubMed", "id": "17646396", "url": "https://glygen.org/publication/PubMed/17646396" }, { "database": "PubMed", "id": "17646428", "url": "https://glygen.org/publication/PubMed/17646428" }, { "database": "PubMed", "id": "17652589", "url": "https://glygen.org/publication/PubMed/17652589" }, { "database": "PubMed", "id": "17684018", "url": "https://glygen.org/publication/PubMed/17684018" }, { "database": "PubMed", "id": "17684102", "url": "https://glygen.org/publication/PubMed/17684102" }, { "database": "PubMed", "id": "17707343", "url": "https://glygen.org/publication/PubMed/17707343" }, { "database": "PubMed", "id": "17720802", "url": "https://glygen.org/publication/PubMed/17720802" }, { "database": "PubMed", "id": "17721885", "url": "https://glygen.org/publication/PubMed/17721885" }, { "database": "PubMed", "id": "17721914", "url": "https://glygen.org/publication/PubMed/17721914" }, { "database": "PubMed", "id": "17724478", "url": "https://glygen.org/publication/PubMed/17724478" }, { "database": "PubMed", "id": "17822324", "url": "https://glygen.org/publication/PubMed/17822324" }, { "database": "PubMed", "id": "17848732", "url": "https://glygen.org/publication/PubMed/17848732" }, { "database": "PubMed", "id": "17848913", "url": "https://glygen.org/publication/PubMed/17848913" }, { "database": "PubMed", "id": "17875968", "url": "https://glygen.org/publication/PubMed/17875968" }, { "database": "PubMed", "id": "17883592", "url": "https://glygen.org/publication/PubMed/17883592" }, { "database": "PubMed", "id": "17910952", "url": "https://glygen.org/publication/PubMed/17910952" }, { "database": "PubMed", "id": "17922342", "url": "https://glygen.org/publication/PubMed/17922342" }, { "database": "PubMed", "id": "17923279", "url": "https://glygen.org/publication/PubMed/17923279" }, { "database": "PubMed", "id": "17935137", "url": "https://glygen.org/publication/PubMed/17935137" }, { "database": "PubMed", "id": "17941081", "url": "https://glygen.org/publication/PubMed/17941081" }, { "database": "PubMed", "id": "17960559", "url": "https://glygen.org/publication/PubMed/17960559" }, { "database": "PubMed", "id": "17961125", "url": "https://glygen.org/publication/PubMed/17961125" }, { "database": "PubMed", "id": "17967879", "url": "https://glygen.org/publication/PubMed/17967879" }, { "database": "PubMed", "id": "17971124", "url": "https://glygen.org/publication/PubMed/17971124" }, { "database": "PubMed", "id": "17974987", "url": "https://glygen.org/publication/PubMed/17974987" }, { "database": "PubMed", "id": "17977950", "url": "https://glygen.org/publication/PubMed/17977950" }, { "database": "PubMed", "id": "17983605", "url": "https://glygen.org/publication/PubMed/17983605" }, { "database": "PubMed", "id": "18006275", "url": "https://glygen.org/publication/PubMed/18006275" }, { "database": "PubMed", "id": "18006659", "url": "https://glygen.org/publication/PubMed/18006659" }, { "database": "PubMed", "id": "18041091", "url": "https://glygen.org/publication/PubMed/18041091" }, { "database": "PubMed", "id": "18054038", "url": "https://glygen.org/publication/PubMed/18054038" }, { "database": "PubMed", "id": "18059161", "url": "https://glygen.org/publication/PubMed/18059161" }, { "database": "PubMed", "id": "18068336", "url": "https://glygen.org/publication/PubMed/18068336" }, { "database": "PubMed", "id": "18159236", "url": "https://glygen.org/publication/PubMed/18159236" }, { "database": "PubMed", "id": "18197291", "url": "https://glygen.org/publication/PubMed/18197291" }, { "database": "PubMed", "id": "18199958", "url": "https://glygen.org/publication/PubMed/18199958" }, { "database": "PubMed", "id": "18204829", "url": "https://glygen.org/publication/PubMed/18204829" }, { "database": "PubMed", "id": "18215105", "url": "https://glygen.org/publication/PubMed/18215105" }, { "database": "PubMed", "id": "18235224", "url": "https://glygen.org/publication/PubMed/18235224" }, { "database": "PubMed", "id": "18256540", "url": "https://glygen.org/publication/PubMed/18256540" }, { "database": "PubMed", "id": "18261725", "url": "https://glygen.org/publication/PubMed/18261725" }, { "database": "PubMed", "id": "18262492", "url": "https://glygen.org/publication/PubMed/18262492" }, { "database": "PubMed", "id": "18305032", "url": "https://glygen.org/publication/PubMed/18305032" }, { "database": "PubMed", "id": "18321849", "url": "https://glygen.org/publication/PubMed/18321849" }, { "database": "PubMed", "id": "18332867", "url": "https://glygen.org/publication/PubMed/18332867" }, { "database": "PubMed", "id": "18339839", "url": "https://glygen.org/publication/PubMed/18339839" }, { "database": "PubMed", "id": "18349842", "url": "https://glygen.org/publication/PubMed/18349842" }, { "database": "PubMed", "id": "18356579", "url": "https://glygen.org/publication/PubMed/18356579" }, { "database": "PubMed", "id": "18363844", "url": "https://glygen.org/publication/PubMed/18363844" }, { "database": "PubMed", "id": "18370992", "url": "https://glygen.org/publication/PubMed/18370992" }, { "database": "PubMed", "id": "18381446", "url": "https://glygen.org/publication/PubMed/18381446" }, { "database": "PubMed", "id": "18391071", "url": "https://glygen.org/publication/PubMed/18391071" }, { "database": "PubMed", "id": "18397976", "url": "https://glygen.org/publication/PubMed/18397976" }, { "database": "PubMed", "id": "18409144", "url": "https://glygen.org/publication/PubMed/18409144" }, { "database": "PubMed", "id": "18426604", "url": "https://glygen.org/publication/PubMed/18426604" }, { "database": "PubMed", "id": "18443205", "url": "https://glygen.org/publication/PubMed/18443205" }, { "database": "PubMed", "id": "18455702", "url": "https://glygen.org/publication/PubMed/18455702" }, { "database": "PubMed", "id": "18477468", "url": "https://glygen.org/publication/PubMed/18477468" }, { "database": "PubMed", "id": "18480058", "url": "https://glygen.org/publication/PubMed/18480058" }, { "database": "PubMed", "id": "18487214", "url": "https://glygen.org/publication/PubMed/18487214" }, { "database": "PubMed", "id": "18498165", "url": "https://glygen.org/publication/PubMed/18498165" }, { "database": "PubMed", "id": "18508192", "url": "https://glygen.org/publication/PubMed/18508192" }, { "database": "PubMed", "id": "18519679", "url": "https://glygen.org/publication/PubMed/18519679" }, { "database": "PubMed", "id": "18535836", "url": "https://glygen.org/publication/PubMed/18535836" }, { "database": "PubMed", "id": "18556572", "url": "https://glygen.org/publication/PubMed/18556572" }, { "database": "PubMed", "id": "18557931", "url": "https://glygen.org/publication/PubMed/18557931" }, { "database": "PubMed", "id": "18565837", "url": "https://glygen.org/publication/PubMed/18565837" }, { "database": "PubMed", "id": "18577685", "url": "https://glygen.org/publication/PubMed/18577685" }, { "database": "PubMed", "id": "18586515", "url": "https://glygen.org/publication/PubMed/18586515" }, { "database": "PubMed", "id": "18615850", "url": "https://glygen.org/publication/PubMed/18615850" }, { "database": "PubMed", "id": "18632646", "url": "https://glygen.org/publication/PubMed/18632646" }, { "database": "PubMed", "id": "18665222", "url": "https://glygen.org/publication/PubMed/18665222" }, { "database": "PubMed", "id": "18670617", "url": "https://glygen.org/publication/PubMed/18670617" }, { "database": "PubMed", "id": "18678787", "url": "https://glygen.org/publication/PubMed/18678787" }, { "database": "PubMed", "id": "18687633", "url": "https://glygen.org/publication/PubMed/18687633" }, { "database": "PubMed", "id": "18691227", "url": "https://glygen.org/publication/PubMed/18691227" }, { "database": "PubMed", "id": "18694847", "url": "https://glygen.org/publication/PubMed/18694847" }, { "database": "PubMed", "id": "18725386", "url": "https://glygen.org/publication/PubMed/18725386" }, { "database": "PubMed", "id": "18725974", "url": "https://glygen.org/publication/PubMed/18725974" }, { "database": "PubMed", "id": "18728666", "url": "https://glygen.org/publication/PubMed/18728666" }, { "database": "PubMed", "id": "18805899", "url": "https://glygen.org/publication/PubMed/18805899" }, { "database": "PubMed", "id": "18812223", "url": "https://glygen.org/publication/PubMed/18812223" }, { "database": "PubMed", "id": "18818526", "url": "https://glygen.org/publication/PubMed/18818526" }, { "database": "PubMed", "id": "18821707", "url": "https://glygen.org/publication/PubMed/18821707" }, { "database": "PubMed", "id": "18831768", "url": "https://glygen.org/publication/PubMed/18831768" }, { "database": "PubMed", "id": "18832563", "url": "https://glygen.org/publication/PubMed/18832563" }, { "database": "PubMed", "id": "18838385", "url": "https://glygen.org/publication/PubMed/18838385" }, { "database": "PubMed", "id": "18838554", "url": "https://glygen.org/publication/PubMed/18838554" }, { "database": "PubMed", "id": "18854827", "url": "https://glygen.org/publication/PubMed/18854827" }, { "database": "PubMed", "id": "18931031", "url": "https://glygen.org/publication/PubMed/18931031" }, { "database": "PubMed", "id": "18931700", "url": "https://glygen.org/publication/PubMed/18931700" }, { "database": "PubMed", "id": "19011679", "url": "https://glygen.org/publication/PubMed/19011679" }, { "database": "PubMed", "id": "19018257", "url": "https://glygen.org/publication/PubMed/19018257" }, { "database": "PubMed", "id": "19036927", "url": "https://glygen.org/publication/PubMed/19036927" }, { "database": "PubMed", "id": "19039330", "url": "https://glygen.org/publication/PubMed/19039330" }, { "database": "PubMed", "id": "19055752", "url": "https://glygen.org/publication/PubMed/19055752" }, { "database": "PubMed", "id": "19055754", "url": "https://glygen.org/publication/PubMed/19055754" }, { "database": "PubMed", "id": "19057672", "url": "https://glygen.org/publication/PubMed/19057672" }, { "database": "PubMed", "id": "19064616", "url": "https://glygen.org/publication/PubMed/19064616" }, { "database": "PubMed", "id": "19074832", "url": "https://glygen.org/publication/PubMed/19074832" }, { "database": "PubMed", "id": "19079341", "url": "https://glygen.org/publication/PubMed/19079341" }, { "database": "PubMed", "id": "19109987", "url": "https://glygen.org/publication/PubMed/19109987" }, { "database": "PubMed", "id": "19114562", "url": "https://glygen.org/publication/PubMed/19114562" }, { "database": "PubMed", "id": "19117990", "url": "https://glygen.org/publication/PubMed/19117990" }, { "database": "PubMed", "id": "19133120", "url": "https://glygen.org/publication/PubMed/19133120" }, { "database": "PubMed", "id": "19134195", "url": "https://glygen.org/publication/PubMed/19134195" }, { "database": "PubMed", "id": "19134226", "url": "https://glygen.org/publication/PubMed/19134226" }, { "database": "PubMed", "id": "19158829", "url": "https://glygen.org/publication/PubMed/19158829" }, { "database": "PubMed", "id": "19164772", "url": "https://glygen.org/publication/PubMed/19164772" }, { "database": "PubMed", "id": "19166270", "url": "https://glygen.org/publication/PubMed/19166270" }, { "database": "PubMed", "id": "19166928", "url": "https://glygen.org/publication/PubMed/19166928" }, { "database": "PubMed", "id": "19171933", "url": "https://glygen.org/publication/PubMed/19171933" }, { "database": "PubMed", "id": "19175524", "url": "https://glygen.org/publication/PubMed/19175524" }, { "database": "PubMed", "id": "19183465", "url": "https://glygen.org/publication/PubMed/19183465" }, { "database": "PubMed", "id": "19209957", "url": "https://glygen.org/publication/PubMed/19209957" }, { "database": "PubMed", "id": "19211028", "url": "https://glygen.org/publication/PubMed/19211028" }, { "database": "PubMed", "id": "19216748", "url": "https://glygen.org/publication/PubMed/19216748" }, { "database": "PubMed", "id": "19238332", "url": "https://glygen.org/publication/PubMed/19238332" }, { "database": "PubMed", "id": "19244117", "url": "https://glygen.org/publication/PubMed/19244117" }, { "database": "PubMed", "id": "19255520", "url": "https://glygen.org/publication/PubMed/19255520" }, { "database": "PubMed", "id": "19262695", "url": "https://glygen.org/publication/PubMed/19262695" }, { "database": "PubMed", "id": "19284309", "url": "https://glygen.org/publication/PubMed/19284309" }, { "database": "PubMed", "id": "19293927", "url": "https://glygen.org/publication/PubMed/19293927" }, { "database": "PubMed", "id": "19320971", "url": "https://glygen.org/publication/PubMed/19320971" }, { "database": "PubMed", "id": "19323821", "url": "https://glygen.org/publication/PubMed/19323821" }, { "database": "PubMed", "id": "19331694", "url": "https://glygen.org/publication/PubMed/19331694" }, { "database": "PubMed", "id": "19349584", "url": "https://glygen.org/publication/PubMed/19349584" }, { "database": "PubMed", "id": "19372546", "url": "https://glygen.org/publication/PubMed/19372546" }, { "database": "PubMed", "id": "19388003", "url": "https://glygen.org/publication/PubMed/19388003" }, { "database": "PubMed", "id": "19402821", "url": "https://glygen.org/publication/PubMed/19402821" }, { "database": "PubMed", "id": "19422047", "url": "https://glygen.org/publication/PubMed/19422047" }, { "database": "PubMed", "id": "19424604", "url": "https://glygen.org/publication/PubMed/19424604" }, { "database": "PubMed", "id": "19448664", "url": "https://glygen.org/publication/PubMed/19448664" }, { "database": "PubMed", "id": "19462258", "url": "https://glygen.org/publication/PubMed/19462258" }, { "database": "PubMed", "id": "19463178", "url": "https://glygen.org/publication/PubMed/19463178" }, { "database": "PubMed", "id": "19465931", "url": "https://glygen.org/publication/PubMed/19465931" }, { "database": "PubMed", "id": "19472218", "url": "https://glygen.org/publication/PubMed/19472218" }, { "database": "PubMed", "id": "19483721", "url": "https://glygen.org/publication/PubMed/19483721" }, { "database": "PubMed", "id": "19492080", "url": "https://glygen.org/publication/PubMed/19492080" }, { "database": "PubMed", "id": "19505958", "url": "https://glygen.org/publication/PubMed/19505958" }, { "database": "PubMed", "id": "19517019", "url": "https://glygen.org/publication/PubMed/19517019" }, { "database": "PubMed", "id": "19550420", "url": "https://glygen.org/publication/PubMed/19550420" }, { "database": "PubMed", "id": "19564927", "url": "https://glygen.org/publication/PubMed/19564927" }, { "database": "PubMed", "id": "19568785", "url": "https://glygen.org/publication/PubMed/19568785" }, { "database": "PubMed", "id": "19574087", "url": "https://glygen.org/publication/PubMed/19574087" }, { "database": "PubMed", "id": "19574502", "url": "https://glygen.org/publication/PubMed/19574502" }, { "database": "PubMed", "id": "19602055", "url": "https://glygen.org/publication/PubMed/19602055" }, { "database": "PubMed", "id": "19602587", "url": "https://glygen.org/publication/PubMed/19602587" }, { "database": "PubMed", "id": "19615971", "url": "https://glygen.org/publication/PubMed/19615971" }, { "database": "PubMed", "id": "19616927", "url": "https://glygen.org/publication/PubMed/19616927" }, { "database": "PubMed", "id": "19633130", "url": "https://glygen.org/publication/PubMed/19633130" }, { "database": "PubMed", "id": "19636556", "url": "https://glygen.org/publication/PubMed/19636556" }, { "database": "PubMed", "id": "19638206", "url": "https://glygen.org/publication/PubMed/19638206" }, { "database": "PubMed", "id": "19644030", "url": "https://glygen.org/publication/PubMed/19644030" }, { "database": "PubMed", "id": "19661305", "url": "https://glygen.org/publication/PubMed/19661305" }, { "database": "PubMed", "id": "19661333", "url": "https://glygen.org/publication/PubMed/19661333" }, { "database": "PubMed", "id": "19676105", "url": "https://glygen.org/publication/PubMed/19676105" }, { "database": "PubMed", "id": "19690545", "url": "https://glygen.org/publication/PubMed/19690545" }, { "database": "PubMed", "id": "19701246", "url": "https://glygen.org/publication/PubMed/19701246" }, { "database": "PubMed", "id": "19703998", "url": "https://glygen.org/publication/PubMed/19703998" }, { "database": "PubMed", "id": "19720745", "url": "https://glygen.org/publication/PubMed/19720745" }, { "database": "PubMed", "id": "19720798", "url": "https://glygen.org/publication/PubMed/19720798" }, { "database": "PubMed", "id": "19724902", "url": "https://glygen.org/publication/PubMed/19724902" }, { "database": "PubMed", "id": "19757038", "url": "https://glygen.org/publication/PubMed/19757038" }, { "database": "PubMed", "id": "19762915", "url": "https://glygen.org/publication/PubMed/19762915" }, { "database": "PubMed", "id": "19779850", "url": "https://glygen.org/publication/PubMed/19779850" }, { "database": "PubMed", "id": "19786063", "url": "https://glygen.org/publication/PubMed/19786063" }, { "database": "PubMed", "id": "19789339", "url": "https://glygen.org/publication/PubMed/19789339" }, { "database": "PubMed", "id": "19796390", "url": "https://glygen.org/publication/PubMed/19796390" }, { "database": "PubMed", "id": "19834495", "url": "https://glygen.org/publication/PubMed/19834495" }, { "database": "PubMed", "id": "19855434", "url": "https://glygen.org/publication/PubMed/19855434" }, { "database": "PubMed", "id": "19863783", "url": "https://glygen.org/publication/PubMed/19863783" }, { "database": "PubMed", "id": "19891769", "url": "https://glygen.org/publication/PubMed/19891769" }, { "database": "PubMed", "id": "19902931", "url": "https://glygen.org/publication/PubMed/19902931" }, { "database": "PubMed", "id": "19922411", "url": "https://glygen.org/publication/PubMed/19922411" }, { "database": "PubMed", "id": "19943972", "url": "https://glygen.org/publication/PubMed/19943972" }, { "database": "PubMed", "id": "19946332", "url": "https://glygen.org/publication/PubMed/19946332" }, { "database": "PubMed", "id": "19956873", "url": "https://glygen.org/publication/PubMed/19956873" }, { "database": "PubMed", "id": "19996208", "url": "https://glygen.org/publication/PubMed/19996208" }, { "database": "PubMed", "id": "19997600", "url": "https://glygen.org/publication/PubMed/19997600" }, { "database": "PubMed", "id": "20011604", "url": "https://glygen.org/publication/PubMed/20011604" }, { "database": "PubMed", "id": "20014066", "url": "https://glygen.org/publication/PubMed/20014066" }, { "database": "PubMed", "id": "20026151", "url": "https://glygen.org/publication/PubMed/20026151" }, { "database": "PubMed", "id": "20038548", "url": "https://glygen.org/publication/PubMed/20038548" }, { "database": "PubMed", "id": "20039275", "url": "https://glygen.org/publication/PubMed/20039275" }, { "database": "PubMed", "id": "20042122", "url": "https://glygen.org/publication/PubMed/20042122" }, { "database": "PubMed", "id": "20046351", "url": "https://glygen.org/publication/PubMed/20046351" }, { "database": "PubMed", "id": "20046837", "url": "https://glygen.org/publication/PubMed/20046837" }, { "database": "PubMed", "id": "20049209", "url": "https://glygen.org/publication/PubMed/20049209" }, { "database": "PubMed", "id": "20051961", "url": "https://glygen.org/publication/PubMed/20051961" }, { "database": "PubMed", "id": "20054000", "url": "https://glygen.org/publication/PubMed/20054000" }, { "database": "PubMed", "id": "20054340", "url": "https://glygen.org/publication/PubMed/20054340" }, { "database": "PubMed", "id": "20068168", "url": "https://glygen.org/publication/PubMed/20068168" }, { "database": "PubMed", "id": "20081374", "url": "https://glygen.org/publication/PubMed/20081374" }, { "database": "PubMed", "id": "20084057", "url": "https://glygen.org/publication/PubMed/20084057" }, { "database": "PubMed", "id": "20090934", "url": "https://glygen.org/publication/PubMed/20090934" }, { "database": "PubMed", "id": "20106927", "url": "https://glygen.org/publication/PubMed/20106927" }, { "database": "PubMed", "id": "20112989", "url": "https://glygen.org/publication/PubMed/20112989" }, { "database": "PubMed", "id": "20126311", "url": "https://glygen.org/publication/PubMed/20126311" }, { "database": "PubMed", "id": "20130777", "url": "https://glygen.org/publication/PubMed/20130777" }, { "database": "PubMed", "id": "20150288", "url": "https://glygen.org/publication/PubMed/20150288" }, { "database": "PubMed", "id": "20152809", "url": "https://glygen.org/publication/PubMed/20152809" }, { "database": "PubMed", "id": "20163786", "url": "https://glygen.org/publication/PubMed/20163786" }, { "database": "PubMed", "id": "20167101", "url": "https://glygen.org/publication/PubMed/20167101" }, { "database": "PubMed", "id": "20167420", "url": "https://glygen.org/publication/PubMed/20167420" }, { "database": "PubMed", "id": "20169162", "url": "https://glygen.org/publication/PubMed/20169162" }, { "database": "PubMed", "id": "20183800", "url": "https://glygen.org/publication/PubMed/20183800" }, { "database": "PubMed", "id": "20186153", "url": "https://glygen.org/publication/PubMed/20186153" }, { "database": "PubMed", "id": "20205745", "url": "https://glygen.org/publication/PubMed/20205745" }, { "database": "PubMed", "id": "20216949", "url": "https://glygen.org/publication/PubMed/20216949" }, { "database": "PubMed", "id": "20217555", "url": "https://glygen.org/publication/PubMed/20217555" }, { "database": "PubMed", "id": "20224651", "url": "https://glygen.org/publication/PubMed/20224651" }, { "database": "PubMed", "id": "20332342", "url": "https://glygen.org/publication/PubMed/20332342" }, { "database": "PubMed", "id": "20333467", "url": "https://glygen.org/publication/PubMed/20333467" }, { "database": "PubMed", "id": "20334367", "url": "https://glygen.org/publication/PubMed/20334367" }, { "database": "PubMed", "id": "20361045", "url": "https://glygen.org/publication/PubMed/20361045" }, { "database": "PubMed", "id": "20362557", "url": "https://glygen.org/publication/PubMed/20362557" }, { "database": "PubMed", "id": "20364113", "url": "https://glygen.org/publication/PubMed/20364113" }, { "database": "PubMed", "id": "20371728", "url": "https://glygen.org/publication/PubMed/20371728" }, { "database": "PubMed", "id": "20375905", "url": "https://glygen.org/publication/PubMed/20375905" }, { "database": "PubMed", "id": "20383279", "url": "https://glygen.org/publication/PubMed/20383279" }, { "database": "PubMed", "id": "20384568", "url": "https://glygen.org/publication/PubMed/20384568" }, { "database": "PubMed", "id": "20385969", "url": "https://glygen.org/publication/PubMed/20385969" }, { "database": "PubMed", "id": "20400975", "url": "https://glygen.org/publication/PubMed/20400975" }, { "database": "PubMed", "id": "20412566", "url": "https://glygen.org/publication/PubMed/20412566" }, { "database": "PubMed", "id": "20418907", "url": "https://glygen.org/publication/PubMed/20418907" }, { "database": "PubMed", "id": "20421190", "url": "https://glygen.org/publication/PubMed/20421190" }, { "database": "PubMed", "id": "20451318", "url": "https://glygen.org/publication/PubMed/20451318" }, { "database": "PubMed", "id": "20454577", "url": "https://glygen.org/publication/PubMed/20454577" }, { "database": "PubMed", "id": "20463894", "url": "https://glygen.org/publication/PubMed/20463894" }, { "database": "PubMed", "id": "20470857", "url": "https://glygen.org/publication/PubMed/20470857" }, { "database": "PubMed", "id": "20489726", "url": "https://glygen.org/publication/PubMed/20489726" }, { "database": "PubMed", "id": "20492449", "url": "https://glygen.org/publication/PubMed/20492449" }, { "database": "PubMed", "id": "20494139", "url": "https://glygen.org/publication/PubMed/20494139" }, { "database": "PubMed", "id": "20507646", "url": "https://glygen.org/publication/PubMed/20507646" }, { "database": "PubMed", "id": "20517722", "url": "https://glygen.org/publication/PubMed/20517722" }, { "database": "PubMed", "id": "20520724", "url": "https://glygen.org/publication/PubMed/20520724" }, { "database": "PubMed", "id": "20527022", "url": "https://glygen.org/publication/PubMed/20527022" }, { "database": "PubMed", "id": "20530982", "url": "https://glygen.org/publication/PubMed/20530982" }, { "database": "PubMed", "id": "20537156", "url": "https://glygen.org/publication/PubMed/20537156" }, { "database": "PubMed", "id": "20540782", "url": "https://glygen.org/publication/PubMed/20540782" }, { "database": "PubMed", "id": "20543991", "url": "https://glygen.org/publication/PubMed/20543991" }, { "database": "PubMed", "id": "20547325", "url": "https://glygen.org/publication/PubMed/20547325" }, { "database": "PubMed", "id": "20555032", "url": "https://glygen.org/publication/PubMed/20555032" }, { "database": "PubMed", "id": "20585660", "url": "https://glygen.org/publication/PubMed/20585660" }, { "database": "PubMed", "id": "20597130", "url": "https://glygen.org/publication/PubMed/20597130" }, { "database": "PubMed", "id": "20628892", "url": "https://glygen.org/publication/PubMed/20628892" }, { "database": "PubMed", "id": "20663232", "url": "https://glygen.org/publication/PubMed/20663232" }, { "database": "PubMed", "id": "20679434", "url": "https://glygen.org/publication/PubMed/20679434" }, { "database": "PubMed", "id": "20685965", "url": "https://glygen.org/publication/PubMed/20685965" }, { "database": "PubMed", "id": "20686120", "url": "https://glygen.org/publication/PubMed/20686120" }, { "database": "PubMed", "id": "20691662", "url": "https://glygen.org/publication/PubMed/20691662" }, { "database": "PubMed", "id": "20704701", "url": "https://glygen.org/publication/PubMed/20704701" }, { "database": "PubMed", "id": "20716939", "url": "https://glygen.org/publication/PubMed/20716939" }, { "database": "PubMed", "id": "20729916", "url": "https://glygen.org/publication/PubMed/20729916" }, { "database": "PubMed", "id": "20736160", "url": "https://glygen.org/publication/PubMed/20736160" }, { "database": "PubMed", "id": "20804500", "url": "https://glygen.org/publication/PubMed/20804500" }, { "database": "PubMed", "id": "20811673", "url": "https://glygen.org/publication/PubMed/20811673" }, { "database": "PubMed", "id": "20817061", "url": "https://glygen.org/publication/PubMed/20817061" }, { "database": "PubMed", "id": "20836557", "url": "https://glygen.org/publication/PubMed/20836557" }, { "database": "PubMed", "id": "20844023", "url": "https://glygen.org/publication/PubMed/20844023" }, { "database": "PubMed", "id": "20860815", "url": "https://glygen.org/publication/PubMed/20860815" }, { "database": "PubMed", "id": "20863384", "url": "https://glygen.org/publication/PubMed/20863384" }, { "database": "PubMed", "id": "20863403", "url": "https://glygen.org/publication/PubMed/20863403" }, { "database": "PubMed", "id": "20920357", "url": "https://glygen.org/publication/PubMed/20920357" }, { "database": "PubMed", "id": "20926588", "url": "https://glygen.org/publication/PubMed/20926588" }, { "database": "PubMed", "id": "20927395", "url": "https://glygen.org/publication/PubMed/20927395" }, { "database": "PubMed", "id": "20941790", "url": "https://glygen.org/publication/PubMed/20941790" }, { "database": "PubMed", "id": "20950443", "url": "https://glygen.org/publication/PubMed/20950443" }, { "database": "PubMed", "id": "20952497", "url": "https://glygen.org/publication/PubMed/20952497" }, { "database": "PubMed", "id": "20953381", "url": "https://glygen.org/publication/PubMed/20953381" }, { "database": "PubMed", "id": "20957047", "url": "https://glygen.org/publication/PubMed/20957047" }, { "database": "PubMed", "id": "20975834", "url": "https://glygen.org/publication/PubMed/20975834" }, { "database": "PubMed", "id": "20980511", "url": "https://glygen.org/publication/PubMed/20980511" }, { "database": "PubMed", "id": "21040800", "url": "https://glygen.org/publication/PubMed/21040800" }, { "database": "PubMed", "id": "21049033", "url": "https://glygen.org/publication/PubMed/21049033" }, { "database": "PubMed", "id": "21059203", "url": "https://glygen.org/publication/PubMed/21059203" }, { "database": "PubMed", "id": "21072193", "url": "https://glygen.org/publication/PubMed/21072193" }, { "database": "PubMed", "id": "21078168", "url": "https://glygen.org/publication/PubMed/21078168" }, { "database": "PubMed", "id": "21080918", "url": "https://glygen.org/publication/PubMed/21080918" }, { "database": "PubMed", "id": "21081844", "url": "https://glygen.org/publication/PubMed/21081844" }, { "database": "PubMed", "id": "21086135", "url": "https://glygen.org/publication/PubMed/21086135" }, { "database": "PubMed", "id": "21097843", "url": "https://glygen.org/publication/PubMed/21097843" }, { "database": "PubMed", "id": "21128248", "url": "https://glygen.org/publication/PubMed/21128248" }, { "database": "PubMed", "id": "21131356", "url": "https://glygen.org/publication/PubMed/21131356" }, { "database": "PubMed", "id": "21134280", "url": "https://glygen.org/publication/PubMed/21134280" }, { "database": "PubMed", "id": "21144036", "url": "https://glygen.org/publication/PubMed/21144036" }, { "database": "PubMed", "id": "21148296", "url": "https://glygen.org/publication/PubMed/21148296" }, { "database": "PubMed", "id": "21152033", "url": "https://glygen.org/publication/PubMed/21152033" }, { "database": "PubMed", "id": "21177249", "url": "https://glygen.org/publication/PubMed/21177249" }, { "database": "PubMed", "id": "21183727", "url": "https://glygen.org/publication/PubMed/21183727" }, { "database": "PubMed", "id": "21192818", "url": "https://glygen.org/publication/PubMed/21192818" }, { "database": "PubMed", "id": "21193562", "url": "https://glygen.org/publication/PubMed/21193562" }, { "database": "PubMed", "id": "21204013", "url": "https://glygen.org/publication/PubMed/21204013" }, { "database": "PubMed", "id": "21209911", "url": "https://glygen.org/publication/PubMed/21209911" }, { "database": "PubMed", "id": "21212404", "url": "https://glygen.org/publication/PubMed/21212404" }, { "database": "PubMed", "id": "21215240", "url": "https://glygen.org/publication/PubMed/21215240" }, { "database": "PubMed", "id": "21253589", "url": "https://glygen.org/publication/PubMed/21253589" }, { "database": "PubMed", "id": "21266528", "url": "https://glygen.org/publication/PubMed/21266528" }, { "database": "PubMed", "id": "21278786", "url": "https://glygen.org/publication/PubMed/21278786" }, { "database": "PubMed", "id": "21283818", "url": "https://glygen.org/publication/PubMed/21283818" }, { "database": "PubMed", "id": "21284537", "url": "https://glygen.org/publication/PubMed/21284537" }, { "database": "PubMed", "id": "21291561", "url": "https://glygen.org/publication/PubMed/21291561" }, { "database": "PubMed", "id": "21296133", "url": "https://glygen.org/publication/PubMed/21296133" }, { "database": "PubMed", "id": "21297971", "url": "https://glygen.org/publication/PubMed/21297971" }, { "database": "PubMed", "id": "21300751", "url": "https://glygen.org/publication/PubMed/21300751" }, { "database": "PubMed", "id": "21307779", "url": "https://glygen.org/publication/PubMed/21307779" }, { "database": "PubMed", "id": "21309701", "url": "https://glygen.org/publication/PubMed/21309701" }, { "database": "PubMed", "id": "21310961", "url": "https://glygen.org/publication/PubMed/21310961" }, { "database": "PubMed", "id": "21321111", "url": "https://glygen.org/publication/PubMed/21321111" }, { "database": "PubMed", "id": "21321187", "url": "https://glygen.org/publication/PubMed/21321187" }, { "database": "PubMed", "id": "21325624", "url": "https://glygen.org/publication/PubMed/21325624" }, { "database": "PubMed", "id": "21326806", "url": "https://glygen.org/publication/PubMed/21326806" }, { "database": "PubMed", "id": "21333374", "url": "https://glygen.org/publication/PubMed/21333374" }, { "database": "PubMed", "id": "21350947", "url": "https://glygen.org/publication/PubMed/21350947" }, { "database": "PubMed", "id": "21364639", "url": "https://glygen.org/publication/PubMed/21364639" }, { "database": "PubMed", "id": "21396911", "url": "https://glygen.org/publication/PubMed/21396911" }, { "database": "PubMed", "id": "21402788", "url": "https://glygen.org/publication/PubMed/21402788" }, { "database": "PubMed", "id": "21415306", "url": "https://glygen.org/publication/PubMed/21415306" }, { "database": "PubMed", "id": "21425139", "url": "https://glygen.org/publication/PubMed/21425139" }, { "database": "PubMed", "id": "21436253", "url": "https://glygen.org/publication/PubMed/21436253" }, { "database": "PubMed", "id": "21437771", "url": "https://glygen.org/publication/PubMed/21437771" }, { "database": "PubMed", "id": "21445305", "url": "https://glygen.org/publication/PubMed/21445305" }, { "database": "PubMed", "id": "21447180", "url": "https://glygen.org/publication/PubMed/21447180" }, { "database": "PubMed", "id": "21461637", "url": "https://glygen.org/publication/PubMed/21461637" }, { "database": "PubMed", "id": "21464307", "url": "https://glygen.org/publication/PubMed/21464307" }, { "database": "PubMed", "id": "21471536", "url": "https://glygen.org/publication/PubMed/21471536" }, { "database": "PubMed", "id": "21472003", "url": "https://glygen.org/publication/PubMed/21472003" }, { "database": "PubMed", "id": "21490677", "url": "https://glygen.org/publication/PubMed/21490677" }, { "database": "PubMed", "id": "21496273", "url": "https://glygen.org/publication/PubMed/21496273" }, { "database": "PubMed", "id": "21499296", "url": "https://glygen.org/publication/PubMed/21499296" }, { "database": "PubMed", "id": "21505451", "url": "https://glygen.org/publication/PubMed/21505451" }, { "database": "PubMed", "id": "21514425", "url": "https://glygen.org/publication/PubMed/21514425" }, { "database": "PubMed", "id": "21538438", "url": "https://glygen.org/publication/PubMed/21538438" }, { "database": "PubMed", "id": "21559284", "url": "https://glygen.org/publication/PubMed/21559284" }, { "database": "PubMed", "id": "21559502", "url": "https://glygen.org/publication/PubMed/21559502" }, { "database": "PubMed", "id": "21592956", "url": "https://glygen.org/publication/PubMed/21592956" }, { "database": "PubMed", "id": "21600017", "url": "https://glygen.org/publication/PubMed/21600017" }, { "database": "PubMed", "id": "21600875", "url": "https://glygen.org/publication/PubMed/21600875" }, { "database": "PubMed", "id": "21625516", "url": "https://glygen.org/publication/PubMed/21625516" }, { "database": "PubMed", "id": "21625639", "url": "https://glygen.org/publication/PubMed/21625639" }, { "database": "PubMed", "id": "21644050", "url": "https://glygen.org/publication/PubMed/21644050" }, { "database": "PubMed", "id": "21647420", "url": "https://glygen.org/publication/PubMed/21647420" }, { "database": "PubMed", "id": "21655183", "url": "https://glygen.org/publication/PubMed/21655183" }, { "database": "PubMed", "id": "21660042", "url": "https://glygen.org/publication/PubMed/21660042" }, { "database": "PubMed", "id": "21666717", "url": "https://glygen.org/publication/PubMed/21666717" }, { "database": "PubMed", "id": "21668414", "url": "https://glygen.org/publication/PubMed/21668414" }, { "database": "PubMed", "id": "21672148", "url": "https://glygen.org/publication/PubMed/21672148" }, { "database": "PubMed", "id": "21682918", "url": "https://glygen.org/publication/PubMed/21682918" }, { "database": "PubMed", "id": "21687633", "url": "https://glygen.org/publication/PubMed/21687633" }, { "database": "PubMed", "id": "21698202", "url": "https://glygen.org/publication/PubMed/21698202" }, { "database": "PubMed", "id": "21704120", "url": "https://glygen.org/publication/PubMed/21704120" }, { "database": "PubMed", "id": "21722370", "url": "https://glygen.org/publication/PubMed/21722370" }, { "database": "PubMed", "id": "21723633", "url": "https://glygen.org/publication/PubMed/21723633" }, { "database": "PubMed", "id": "21724622", "url": "https://glygen.org/publication/PubMed/21724622" }, { "database": "PubMed", "id": "21741919", "url": "https://glygen.org/publication/PubMed/21741919" }, { "database": "PubMed", "id": "21747918", "url": "https://glygen.org/publication/PubMed/21747918" }, { "database": "PubMed", "id": "21750652", "url": "https://glygen.org/publication/PubMed/21750652" }, { "database": "PubMed", "id": "21763075", "url": "https://glygen.org/publication/PubMed/21763075" }, { "database": "PubMed", "id": "21763421", "url": "https://glygen.org/publication/PubMed/21763421" }, { "database": "PubMed", "id": "21767636", "url": "https://glygen.org/publication/PubMed/21767636" }, { "database": "PubMed", "id": "21775480", "url": "https://glygen.org/publication/PubMed/21775480" }, { "database": "PubMed", "id": "21789189", "url": "https://glygen.org/publication/PubMed/21789189" }, { "database": "PubMed", "id": "21795477", "url": "https://glygen.org/publication/PubMed/21795477" }, { "database": "PubMed", "id": "21796074", "url": "https://glygen.org/publication/PubMed/21796074" }, { "database": "PubMed", "id": "21804606", "url": "https://glygen.org/publication/PubMed/21804606" }, { "database": "PubMed", "id": "21818627", "url": "https://glygen.org/publication/PubMed/21818627" }, { "database": "PubMed", "id": "21821012", "url": "https://glygen.org/publication/PubMed/21821012" }, { "database": "PubMed", "id": "21837363", "url": "https://glygen.org/publication/PubMed/21837363" }, { "database": "PubMed", "id": "21840189", "url": "https://glygen.org/publication/PubMed/21840189" }, { "database": "PubMed", "id": "21864408", "url": "https://glygen.org/publication/PubMed/21864408" }, { "database": "PubMed", "id": "21867682", "url": "https://glygen.org/publication/PubMed/21867682" }, { "database": "PubMed", "id": "21871173", "url": "https://glygen.org/publication/PubMed/21871173" }, { "database": "PubMed", "id": "21871446", "url": "https://glygen.org/publication/PubMed/21871446" }, { "database": "PubMed", "id": "21874045", "url": "https://glygen.org/publication/PubMed/21874045" }, { "database": "PubMed", "id": "21887250", "url": "https://glygen.org/publication/PubMed/21887250" }, { "database": "PubMed", "id": "21898122", "url": "https://glygen.org/publication/PubMed/21898122" }, { "database": "PubMed", "id": "21900500", "url": "https://glygen.org/publication/PubMed/21900500" }, { "database": "PubMed", "id": "21901254", "url": "https://glygen.org/publication/PubMed/21901254" }, { "database": "PubMed", "id": "21904110", "url": "https://glygen.org/publication/PubMed/21904110" }, { "database": "PubMed", "id": "21908613", "url": "https://glygen.org/publication/PubMed/21908613" }, { "database": "PubMed", "id": "21943213", "url": "https://glygen.org/publication/PubMed/21943213" }, { "database": "PubMed", "id": "21952497", "url": "https://glygen.org/publication/PubMed/21952497" }, { "database": "PubMed", "id": "21956113", "url": "https://glygen.org/publication/PubMed/21956113" }, { "database": "PubMed", "id": "21984893", "url": "https://glygen.org/publication/PubMed/21984893" }, { "database": "PubMed", "id": "21991327", "url": "https://glygen.org/publication/PubMed/21991327" }, { "database": "PubMed", "id": "22012613", "url": "https://glygen.org/publication/PubMed/22012613" }, { "database": "PubMed", "id": "22016349", "url": "https://glygen.org/publication/PubMed/22016349" }, { "database": "PubMed", "id": "22025163", "url": "https://glygen.org/publication/PubMed/22025163" }, { "database": "PubMed", "id": "22029423", "url": "https://glygen.org/publication/PubMed/22029423" }, { "database": "PubMed", "id": "22039466", "url": "https://glygen.org/publication/PubMed/22039466" }, { "database": "PubMed", "id": "22046442", "url": "https://glygen.org/publication/PubMed/22046442" }, { "database": "PubMed", "id": "22060274", "url": "https://glygen.org/publication/PubMed/22060274" }, { "database": "PubMed", "id": "22071574", "url": "https://glygen.org/publication/PubMed/22071574" }, { "database": "PubMed", "id": "22073312", "url": "https://glygen.org/publication/PubMed/22073312" }, { "database": "PubMed", "id": "22084251", "url": "https://glygen.org/publication/PubMed/22084251" }, { "database": "PubMed", "id": "22107784", "url": "https://glygen.org/publication/PubMed/22107784" }, { "database": "PubMed", "id": "22110663", "url": "https://glygen.org/publication/PubMed/22110663" }, { "database": "PubMed", "id": "22116303", "url": "https://glygen.org/publication/PubMed/22116303" }, { "database": "PubMed", "id": "22131882", "url": "https://glygen.org/publication/PubMed/22131882" }, { "database": "PubMed", "id": "22139837", "url": "https://glygen.org/publication/PubMed/22139837" }, { "database": "PubMed", "id": "22142888", "url": "https://glygen.org/publication/PubMed/22142888" }, { "database": "PubMed", "id": "22155350", "url": "https://glygen.org/publication/PubMed/22155350" }, { "database": "PubMed", "id": "22173835", "url": "https://glygen.org/publication/PubMed/22173835" }, { "database": "PubMed", "id": "22184107", "url": "https://glygen.org/publication/PubMed/22184107" }, { "database": "PubMed", "id": "22184110", "url": "https://glygen.org/publication/PubMed/22184110" }, { "database": "PubMed", "id": "22185378", "url": "https://glygen.org/publication/PubMed/22185378" }, { "database": "PubMed", "id": "22194965", "url": "https://glygen.org/publication/PubMed/22194965" }, { "database": "PubMed", "id": "22204954", "url": "https://glygen.org/publication/PubMed/22204954" }, { "database": "PubMed", "id": "22207758", "url": "https://glygen.org/publication/PubMed/22207758" }, { "database": "PubMed", "id": "22211100", "url": "https://glygen.org/publication/PubMed/22211100" }, { "database": "PubMed", "id": "22235305", "url": "https://glygen.org/publication/PubMed/22235305" }, { "database": "PubMed", "id": "22245935", "url": "https://glygen.org/publication/PubMed/22245935" }, { "database": "PubMed", "id": "22248929", "url": "https://glygen.org/publication/PubMed/22248929" }, { "database": "PubMed", "id": "22253197", "url": "https://glygen.org/publication/PubMed/22253197" }, { "database": "PubMed", "id": "22253983", "url": "https://glygen.org/publication/PubMed/22253983" }, { "database": "PubMed", "id": "22259221", "url": "https://glygen.org/publication/PubMed/22259221" }, { "database": "PubMed", "id": "22262182", "url": "https://glygen.org/publication/PubMed/22262182" }, { "database": "PubMed", "id": "22280833", "url": "https://glygen.org/publication/PubMed/22280833" }, { "database": "PubMed", "id": "22289259", "url": "https://glygen.org/publication/PubMed/22289259" }, { "database": "PubMed", "id": "22293289", "url": "https://glygen.org/publication/PubMed/22293289" }, { "database": "PubMed", "id": "22305966", "url": "https://glygen.org/publication/PubMed/22305966" }, { "database": "PubMed", "id": "22322917", "url": "https://glygen.org/publication/PubMed/22322917" }, { "database": "PubMed", "id": "22337773", "url": "https://glygen.org/publication/PubMed/22337773" }, { "database": "PubMed", "id": "22347457", "url": "https://glygen.org/publication/PubMed/22347457" }, { "database": "PubMed", "id": "22363436", "url": "https://glygen.org/publication/PubMed/22363436" }, { "database": "PubMed", "id": "22363598", "url": "https://glygen.org/publication/PubMed/22363598" }, { "database": "PubMed", "id": "22374978", "url": "https://glygen.org/publication/PubMed/22374978" }, { "database": "PubMed", "id": "22384145", "url": "https://glygen.org/publication/PubMed/22384145" }, { "database": "PubMed", "id": "22388104", "url": "https://glygen.org/publication/PubMed/22388104" }, { "database": "PubMed", "id": "22391563", "url": "https://glygen.org/publication/PubMed/22391563" }, { "database": "PubMed", "id": "22415553", "url": "https://glygen.org/publication/PubMed/22415553" }, { "database": "PubMed", "id": "22422409", "url": "https://glygen.org/publication/PubMed/22422409" }, { "database": "PubMed", "id": "22431710", "url": "https://glygen.org/publication/PubMed/22431710" }, { "database": "PubMed", "id": "22458600", "url": "https://glygen.org/publication/PubMed/22458600" }, { "database": "PubMed", "id": "22460505", "url": "https://glygen.org/publication/PubMed/22460505" }, { "database": "PubMed", "id": "22473959", "url": "https://glygen.org/publication/PubMed/22473959" }, { "database": "PubMed", "id": "22476852", "url": "https://glygen.org/publication/PubMed/22476852" }, { "database": "PubMed", "id": "22487004", "url": "https://glygen.org/publication/PubMed/22487004" }, { "database": "PubMed", "id": "22492939", "url": "https://glygen.org/publication/PubMed/22492939" }, { "database": "PubMed", "id": "22493067", "url": "https://glygen.org/publication/PubMed/22493067" }, { "database": "PubMed", "id": "22509246", "url": "https://glygen.org/publication/PubMed/22509246" }, { "database": "PubMed", "id": "22510297", "url": "https://glygen.org/publication/PubMed/22510297" }, { "database": "PubMed", "id": "22511762", "url": "https://glygen.org/publication/PubMed/22511762" }, { "database": "PubMed", "id": "22523681", "url": "https://glygen.org/publication/PubMed/22523681" }, { "database": "PubMed", "id": "22530768", "url": "https://glygen.org/publication/PubMed/22530768" }, { "database": "PubMed", "id": "22532249", "url": "https://glygen.org/publication/PubMed/22532249" }, { "database": "PubMed", "id": "22536436", "url": "https://glygen.org/publication/PubMed/22536436" }, { "database": "PubMed", "id": "22550181", "url": "https://glygen.org/publication/PubMed/22550181" }, { "database": "PubMed", "id": "22569334", "url": "https://glygen.org/publication/PubMed/22569334" }, { "database": "PubMed", "id": "22570727", "url": "https://glygen.org/publication/PubMed/22570727" }, { "database": "PubMed", "id": "22590625", "url": "https://glygen.org/publication/PubMed/22590625" }, { "database": "PubMed", "id": "22590634", "url": "https://glygen.org/publication/PubMed/22590634" }, { "database": "PubMed", "id": "22614157", "url": "https://glygen.org/publication/PubMed/22614157" }, { "database": "PubMed", "id": "22623960", "url": "https://glygen.org/publication/PubMed/22623960" }, { "database": "PubMed", "id": "22629392", "url": "https://glygen.org/publication/PubMed/22629392" }, { "database": "PubMed", "id": "22634313", "url": "https://glygen.org/publication/PubMed/22634313" }, { "database": "PubMed", "id": "22657251", "url": "https://glygen.org/publication/PubMed/22657251" }, { "database": "PubMed", "id": "22673183", "url": "https://glygen.org/publication/PubMed/22673183" }, { "database": "PubMed", "id": "22675562", "url": "https://glygen.org/publication/PubMed/22675562" }, { "database": "PubMed", "id": "22685542", "url": "https://glygen.org/publication/PubMed/22685542" }, { "database": "PubMed", "id": "22690138", "url": "https://glygen.org/publication/PubMed/22690138" }, { "database": "PubMed", "id": "22709426", "url": "https://glygen.org/publication/PubMed/22709426" }, { "database": "PubMed", "id": "22710713", "url": "https://glygen.org/publication/PubMed/22710713" }, { "database": "PubMed", "id": "22728270", "url": "https://glygen.org/publication/PubMed/22728270" }, { "database": "PubMed", "id": "22728372", "url": "https://glygen.org/publication/PubMed/22728372" }, { "database": "PubMed", "id": "22730174", "url": "https://glygen.org/publication/PubMed/22730174" }, { "database": "PubMed", "id": "22733130", "url": "https://glygen.org/publication/PubMed/22733130" }, { "database": "PubMed", "id": "22739265", "url": "https://glygen.org/publication/PubMed/22739265" }, { "database": "PubMed", "id": "22739986", "url": "https://glygen.org/publication/PubMed/22739986" }, { "database": "PubMed", "id": "22739988", "url": "https://glygen.org/publication/PubMed/22739988" }, { "database": "PubMed", "id": "22745786", "url": "https://glygen.org/publication/PubMed/22745786" }, { "database": "PubMed", "id": "22767580", "url": "https://glygen.org/publication/PubMed/22767580" }, { "database": "PubMed", "id": "22771387", "url": "https://glygen.org/publication/PubMed/22771387" }, { "database": "PubMed", "id": "22781553", "url": "https://glygen.org/publication/PubMed/22781553" }, { "database": "PubMed", "id": "22785470", "url": "https://glygen.org/publication/PubMed/22785470" }, { "database": "PubMed", "id": "22789858", "url": "https://glygen.org/publication/PubMed/22789858" }, { "database": "PubMed", "id": "22799881", "url": "https://glygen.org/publication/PubMed/22799881" }, { "database": "PubMed", "id": "22809628", "url": "https://glygen.org/publication/PubMed/22809628" }, { "database": "PubMed", "id": "22824823", "url": "https://glygen.org/publication/PubMed/22824823" }, { "database": "PubMed", "id": "22830422", "url": "https://glygen.org/publication/PubMed/22830422" }, { "database": "PubMed", "id": "22839755", "url": "https://glygen.org/publication/PubMed/22839755" }, { "database": "PubMed", "id": "22864984", "url": "https://glygen.org/publication/PubMed/22864984" }, { "database": "PubMed", "id": "22869144", "url": "https://glygen.org/publication/PubMed/22869144" }, { "database": "PubMed", "id": "22872237", "url": "https://glygen.org/publication/PubMed/22872237" }, { "database": "PubMed", "id": "22879882", "url": "https://glygen.org/publication/PubMed/22879882" }, { "database": "PubMed", "id": "22880048", "url": "https://glygen.org/publication/PubMed/22880048" }, { "database": "PubMed", "id": "22902327", "url": "https://glygen.org/publication/PubMed/22902327" }, { "database": "PubMed", "id": "22902833", "url": "https://glygen.org/publication/PubMed/22902833" }, { "database": "PubMed", "id": "22905202", "url": "https://glygen.org/publication/PubMed/22905202" }, { "database": "PubMed", "id": "22909302", "url": "https://glygen.org/publication/PubMed/22909302" }, { "database": "PubMed", "id": "22911700", "url": "https://glygen.org/publication/PubMed/22911700" }, { "database": "PubMed", "id": "22911754", "url": "https://glygen.org/publication/PubMed/22911754" }, { "database": "PubMed", "id": "22911820", "url": "https://glygen.org/publication/PubMed/22911820" }, { "database": "PubMed", "id": "22912850", "url": "https://glygen.org/publication/PubMed/22912850" }, { "database": "PubMed", "id": "22927331", "url": "https://glygen.org/publication/PubMed/22927331" }, { "database": "PubMed", "id": "22928011", "url": "https://glygen.org/publication/PubMed/22928011" }, { "database": "PubMed", "id": "22952709", "url": "https://glygen.org/publication/PubMed/22952709" }, { "database": "PubMed", "id": "22956257", "url": "https://glygen.org/publication/PubMed/22956257" }, { "database": "PubMed", "id": "22957045", "url": "https://glygen.org/publication/PubMed/22957045" }, { "database": "PubMed", "id": "22975683", "url": "https://glygen.org/publication/PubMed/22975683" }, { "database": "PubMed", "id": "23007634", "url": "https://glygen.org/publication/PubMed/23007634" }, { "database": "PubMed", "id": "23011139", "url": "https://glygen.org/publication/PubMed/23011139" }, { "database": "PubMed", "id": "23045700", "url": "https://glygen.org/publication/PubMed/23045700" }, { "database": "PubMed", "id": "23049696", "url": "https://glygen.org/publication/PubMed/23049696" }, { "database": "PubMed", "id": "23071583", "url": "https://glygen.org/publication/PubMed/23071583" }, { "database": "PubMed", "id": "23072587", "url": "https://glygen.org/publication/PubMed/23072587" }, { "database": "PubMed", "id": "23077590", "url": "https://glygen.org/publication/PubMed/23077590" }, { "database": "PubMed", "id": "23082158", "url": "https://glygen.org/publication/PubMed/23082158" }, { "database": "PubMed", "id": "23086641", "url": "https://glygen.org/publication/PubMed/23086641" }, { "database": "PubMed", "id": "23091617", "url": "https://glygen.org/publication/PubMed/23091617" }, { "database": "PubMed", "id": "23094058", "url": "https://glygen.org/publication/PubMed/23094058" }, { "database": "PubMed", "id": "23100325", "url": "https://glygen.org/publication/PubMed/23100325" }, { "database": "PubMed", "id": "23119004", "url": "https://glygen.org/publication/PubMed/23119004" }, { "database": "PubMed", "id": "23127854", "url": "https://glygen.org/publication/PubMed/23127854" }, { "database": "PubMed", "id": "23142241", "url": "https://glygen.org/publication/PubMed/23142241" }, { "database": "PubMed", "id": "23142521", "url": "https://glygen.org/publication/PubMed/23142521" }, { "database": "PubMed", "id": "23147412", "url": "https://glygen.org/publication/PubMed/23147412" }, { "database": "PubMed", "id": "23151908", "url": "https://glygen.org/publication/PubMed/23151908" }, { "database": "PubMed", "id": "23152054", "url": "https://glygen.org/publication/PubMed/23152054" }, { "database": "PubMed", "id": "23155381", "url": "https://glygen.org/publication/PubMed/23155381" }, { "database": "PubMed", "id": "23165443", "url": "https://glygen.org/publication/PubMed/23165443" }, { "database": "PubMed", "id": "23167739", "url": "https://glygen.org/publication/PubMed/23167739" }, { "database": "PubMed", "id": "23176396", "url": "https://glygen.org/publication/PubMed/23176396" }, { "database": "PubMed", "id": "23182460", "url": "https://glygen.org/publication/PubMed/23182460" }, { "database": "PubMed", "id": "23183047", "url": "https://glygen.org/publication/PubMed/23183047" }, { "database": "PubMed", "id": "23208610", "url": "https://glygen.org/publication/PubMed/23208610" }, { "database": "PubMed", "id": "23209838", "url": "https://glygen.org/publication/PubMed/23209838" }, { "database": "PubMed", "id": "23220480", "url": "https://glygen.org/publication/PubMed/23220480" }, { "database": "PubMed", "id": "23226094", "url": "https://glygen.org/publication/PubMed/23226094" }, { "database": "PubMed", "id": "23237847", "url": "https://glygen.org/publication/PubMed/23237847" }, { "database": "PubMed", "id": "23242584", "url": "https://glygen.org/publication/PubMed/23242584" }, { "database": "PubMed", "id": "23243000", "url": "https://glygen.org/publication/PubMed/23243000" }, { "database": "PubMed", "id": "23245988", "url": "https://glygen.org/publication/PubMed/23245988" }, { "database": "PubMed", "id": "23250732", "url": "https://glygen.org/publication/PubMed/23250732" }, { "database": "PubMed", "id": "23255002", "url": "https://glygen.org/publication/PubMed/23255002" }, { "database": "PubMed", "id": "23259744", "url": "https://glygen.org/publication/PubMed/23259744" }, { "database": "PubMed", "id": "23263555", "url": "https://glygen.org/publication/PubMed/23263555" }, { "database": "PubMed", "id": "23272152", "url": "https://glygen.org/publication/PubMed/23272152" }, { "database": "PubMed", "id": "23274898", "url": "https://glygen.org/publication/PubMed/23274898" }, { "database": "PubMed", "id": "23284736", "url": "https://glygen.org/publication/PubMed/23284736" }, { "database": "PubMed", "id": "23285096", "url": "https://glygen.org/publication/PubMed/23285096" }, { "database": "PubMed", "id": "23291718", "url": "https://glygen.org/publication/PubMed/23291718" }, { "database": "PubMed", "id": "23300339", "url": "https://glygen.org/publication/PubMed/23300339" }, { "database": "PubMed", "id": "23300563", "url": "https://glygen.org/publication/PubMed/23300563" }, { "database": "PubMed", "id": "23300998", "url": "https://glygen.org/publication/PubMed/23300998" }, { "database": "PubMed", "id": "23303682", "url": "https://glygen.org/publication/PubMed/23303682" }, { "database": "PubMed", "id": "23311938", "url": "https://glygen.org/publication/PubMed/23311938" }, { "database": "PubMed", "id": "23319332", "url": "https://glygen.org/publication/PubMed/23319332" }, { "database": "PubMed", "id": "23326514", "url": "https://glygen.org/publication/PubMed/23326514" }, { "database": "PubMed", "id": "23343403", "url": "https://glygen.org/publication/PubMed/23343403" }, { "database": "PubMed", "id": "23349842", "url": "https://glygen.org/publication/PubMed/23349842" }, { "database": "PubMed", "id": "23349855", "url": "https://glygen.org/publication/PubMed/23349855" }, { "database": "PubMed", "id": "23349989", "url": "https://glygen.org/publication/PubMed/23349989" }, { "database": "PubMed", "id": "23380710", "url": "https://glygen.org/publication/PubMed/23380710" }, { "database": "PubMed", "id": "23381805", "url": "https://glygen.org/publication/PubMed/23381805" }, { "database": "PubMed", "id": "23383195", "url": "https://glygen.org/publication/PubMed/23383195" }, { "database": "PubMed", "id": "23383252", "url": "https://glygen.org/publication/PubMed/23383252" }, { "database": "PubMed", "id": "23383347", "url": "https://glygen.org/publication/PubMed/23383347" }, { "database": "PubMed", "id": "23389114", "url": "https://glygen.org/publication/PubMed/23389114" }, { "database": "PubMed", "id": "23396361", "url": "https://glygen.org/publication/PubMed/23396361" }, { "database": "PubMed", "id": "23402310", "url": "https://glygen.org/publication/PubMed/23402310" }, { "database": "PubMed", "id": "23408974", "url": "https://glygen.org/publication/PubMed/23408974" }, { "database": "PubMed", "id": "23409093", "url": "https://glygen.org/publication/PubMed/23409093" }, { "database": "PubMed", "id": "23415012", "url": "https://glygen.org/publication/PubMed/23415012" }, { "database": "PubMed", "id": "23419269", "url": "https://glygen.org/publication/PubMed/23419269" }, { "database": "PubMed", "id": "23420345", "url": "https://glygen.org/publication/PubMed/23420345" }, { "database": "PubMed", "id": "23420486", "url": "https://glygen.org/publication/PubMed/23420486" }, { "database": "PubMed", "id": "23426781", "url": "https://glygen.org/publication/PubMed/23426781" }, { "database": "PubMed", "id": "23427269", "url": "https://glygen.org/publication/PubMed/23427269" }, { "database": "PubMed", "id": "23437141", "url": "https://glygen.org/publication/PubMed/23437141" }, { "database": "PubMed", "id": "23437184", "url": "https://glygen.org/publication/PubMed/23437184" }, { "database": "PubMed", "id": "23437362", "url": "https://glygen.org/publication/PubMed/23437362" }, { "database": "PubMed", "id": "23440515", "url": "https://glygen.org/publication/PubMed/23440515" }, { "database": "PubMed", "id": "23440594", "url": "https://glygen.org/publication/PubMed/23440594" }, { "database": "PubMed", "id": "23442976", "url": "https://glygen.org/publication/PubMed/23442976" }, { "database": "PubMed", "id": "23443110", "url": "https://glygen.org/publication/PubMed/23443110" }, { "database": "PubMed", "id": "23460862", "url": "https://glygen.org/publication/PubMed/23460862" }, { "database": "PubMed", "id": "23466053", "url": "https://glygen.org/publication/PubMed/23466053" }, { "database": "PubMed", "id": "23468988", "url": "https://glygen.org/publication/PubMed/23468988" }, { "database": "PubMed", "id": "23469007", "url": "https://glygen.org/publication/PubMed/23469007" }, { "database": "PubMed", "id": "23497867", "url": "https://glygen.org/publication/PubMed/23497867" }, { "database": "PubMed", "id": "23506355", "url": "https://glygen.org/publication/PubMed/23506355" }, { "database": "PubMed", "id": "23509892", "url": "https://glygen.org/publication/PubMed/23509892" }, { "database": "PubMed", "id": "23517112", "url": "https://glygen.org/publication/PubMed/23517112" }, { "database": "PubMed", "id": "23520133", "url": "https://glygen.org/publication/PubMed/23520133" }, { "database": "PubMed", "id": "23529222", "url": "https://glygen.org/publication/PubMed/23529222" }, { "database": "PubMed", "id": "23552696", "url": "https://glygen.org/publication/PubMed/23552696" }, { "database": "PubMed", "id": "23554999", "url": "https://glygen.org/publication/PubMed/23554999" }, { "database": "PubMed", "id": "23555559", "url": "https://glygen.org/publication/PubMed/23555559" }, { "database": "PubMed", "id": "23566222", "url": "https://glygen.org/publication/PubMed/23566222" }, { "database": "PubMed", "id": "23570421", "url": "https://glygen.org/publication/PubMed/23570421" }, { "database": "PubMed", "id": "23573286", "url": "https://glygen.org/publication/PubMed/23573286" }, { "database": "PubMed", "id": "23580233", "url": "https://glygen.org/publication/PubMed/23580233" }, { "database": "PubMed", "id": "23590596", "url": "https://glygen.org/publication/PubMed/23590596" }, { "database": "PubMed", "id": "23596468", "url": "https://glygen.org/publication/PubMed/23596468" }, { "database": "PubMed", "id": "23596569", "url": "https://glygen.org/publication/PubMed/23596569" }, { "database": "PubMed", "id": "23598299", "url": "https://glygen.org/publication/PubMed/23598299" }, { "database": "PubMed", "id": "23618343", "url": "https://glygen.org/publication/PubMed/23618343" }, { "database": "PubMed", "id": "23623869", "url": "https://glygen.org/publication/PubMed/23623869" }, { "database": "PubMed", "id": "23623968", "url": "https://glygen.org/publication/PubMed/23623968" }, { "database": "PubMed", "id": "23632475", "url": "https://glygen.org/publication/PubMed/23632475" }, { "database": "PubMed", "id": "23644504", "url": "https://glygen.org/publication/PubMed/23644504" }, { "database": "PubMed", "id": "23650507", "url": "https://glygen.org/publication/PubMed/23650507" }, { "database": "PubMed", "id": "23652833", "url": "https://glygen.org/publication/PubMed/23652833" }, { "database": "PubMed", "id": "23668972", "url": "https://glygen.org/publication/PubMed/23668972" }, { "database": "PubMed", "id": "23671619", "url": "https://glygen.org/publication/PubMed/23671619" }, { "database": "PubMed", "id": "23673367", "url": "https://glygen.org/publication/PubMed/23673367" }, { "database": "PubMed", "id": "23676467", "url": "https://glygen.org/publication/PubMed/23676467" }, { "database": "PubMed", "id": "23680186", "url": "https://glygen.org/publication/PubMed/23680186" }, { "database": "PubMed", "id": "23681745", "url": "https://glygen.org/publication/PubMed/23681745" }, { "database": "PubMed", "id": "23682967", "url": "https://glygen.org/publication/PubMed/23682967" }, { "database": "PubMed", "id": "23684622", "url": "https://glygen.org/publication/PubMed/23684622" }, { "database": "PubMed", "id": "23686305", "url": "https://glygen.org/publication/PubMed/23686305" }, { "database": "PubMed", "id": "23693014", "url": "https://glygen.org/publication/PubMed/23693014" }, { "database": "PubMed", "id": "23696823", "url": "https://glygen.org/publication/PubMed/23696823" }, { "database": "PubMed", "id": "23705826", "url": "https://glygen.org/publication/PubMed/23705826" }, { "database": "PubMed", "id": "23707764", "url": "https://glygen.org/publication/PubMed/23707764" }, { "database": "PubMed", "id": "23725059", "url": "https://glygen.org/publication/PubMed/23725059" }, { "database": "PubMed", "id": "23727661", "url": "https://glygen.org/publication/PubMed/23727661" }, { "database": "PubMed", "id": "23732709", "url": "https://glygen.org/publication/PubMed/23732709" }, { "database": "PubMed", "id": "23748344", "url": "https://glygen.org/publication/PubMed/23748344" }, { "database": "PubMed", "id": "23760395", "url": "https://glygen.org/publication/PubMed/23760395" }, { "database": "PubMed", "id": "23762398", "url": "https://glygen.org/publication/PubMed/23762398" }, { "database": "PubMed", "id": "23764845", "url": "https://glygen.org/publication/PubMed/23764845" }, { "database": "PubMed", "id": "23773626", "url": "https://glygen.org/publication/PubMed/23773626" }, { "database": "PubMed", "id": "23776620", "url": "https://glygen.org/publication/PubMed/23776620" }, { "database": "PubMed", "id": "23785417", "url": "https://glygen.org/publication/PubMed/23785417" }, { "database": "PubMed", "id": "23792675", "url": "https://glygen.org/publication/PubMed/23792675" }, { "database": "PubMed", "id": "23796957", "url": "https://glygen.org/publication/PubMed/23796957" }, { "database": "PubMed", "id": "23799035", "url": "https://glygen.org/publication/PubMed/23799035" }, { "database": "PubMed", "id": "23799852", "url": "https://glygen.org/publication/PubMed/23799852" }, { "database": "PubMed", "id": "23802099", "url": "https://glygen.org/publication/PubMed/23802099" }, { "database": "PubMed", "id": "23803188", "url": "https://glygen.org/publication/PubMed/23803188" }, { "database": "PubMed", "id": "23803661", "url": "https://glygen.org/publication/PubMed/23803661" }, { "database": "PubMed", "id": "23824064", "url": "https://glygen.org/publication/PubMed/23824064" }, { "database": "PubMed", "id": "23824914", "url": "https://glygen.org/publication/PubMed/23824914" }, { "database": "PubMed", "id": "23840605", "url": "https://glygen.org/publication/PubMed/23840605" }, { "database": "PubMed", "id": "23844554", "url": "https://glygen.org/publication/PubMed/23844554" }, { "database": "PubMed", "id": "23845085", "url": "https://glygen.org/publication/PubMed/23845085" }, { "database": "PubMed", "id": "23867201", "url": "https://glygen.org/publication/PubMed/23867201" }, { "database": "PubMed", "id": "23872070", "url": "https://glygen.org/publication/PubMed/23872070" }, { "database": "PubMed", "id": "23872419", "url": "https://glygen.org/publication/PubMed/23872419" }, { "database": "PubMed", "id": "23874483", "url": "https://glygen.org/publication/PubMed/23874483" }, { "database": "PubMed", "id": "23874694", "url": "https://glygen.org/publication/PubMed/23874694" }, { "database": "PubMed", "id": "23874880", "url": "https://glygen.org/publication/PubMed/23874880" }, { "database": "PubMed", "id": "23880825", "url": "https://glygen.org/publication/PubMed/23880825" }, { "database": "PubMed", "id": "23895284", "url": "https://glygen.org/publication/PubMed/23895284" }, { "database": "PubMed", "id": "23900743", "url": "https://glygen.org/publication/PubMed/23900743" }, { "database": "PubMed", "id": "23902739", "url": "https://glygen.org/publication/PubMed/23902739" }, { "database": "PubMed", "id": "23904987", "url": "https://glygen.org/publication/PubMed/23904987" }, { "database": "PubMed", "id": "23912456", "url": "https://glygen.org/publication/PubMed/23912456" }, { "database": "PubMed", "id": "23922669", "url": "https://glygen.org/publication/PubMed/23922669" }, { "database": "PubMed", "id": "23922774", "url": "https://glygen.org/publication/PubMed/23922774" }, { "database": "PubMed", "id": "23928696", "url": "https://glygen.org/publication/PubMed/23928696" }, { "database": "PubMed", "id": "23933705", "url": "https://glygen.org/publication/PubMed/23933705" }, { "database": "PubMed", "id": "23935944", "url": "https://glygen.org/publication/PubMed/23935944" }, { "database": "PubMed", "id": "23938603", "url": "https://glygen.org/publication/PubMed/23938603" }, { "database": "PubMed", "id": "23940416", "url": "https://glygen.org/publication/PubMed/23940416" }, { "database": "PubMed", "id": "23940660", "url": "https://glygen.org/publication/PubMed/23940660" }, { "database": "PubMed", "id": "23940704", "url": "https://glygen.org/publication/PubMed/23940704" }, { "database": "PubMed", "id": "23946798", "url": "https://glygen.org/publication/PubMed/23946798" }, { "database": "PubMed", "id": "23950935", "url": "https://glygen.org/publication/PubMed/23950935" }, { "database": "PubMed", "id": "23951036", "url": "https://glygen.org/publication/PubMed/23951036" }, { "database": "PubMed", "id": "23951353", "url": "https://glygen.org/publication/PubMed/23951353" }, { "database": "PubMed", "id": "23958999", "url": "https://glygen.org/publication/PubMed/23958999" }, { "database": "PubMed", "id": "23977025", "url": "https://glygen.org/publication/PubMed/23977025" }, { "database": "PubMed", "id": "23979601", "url": "https://glygen.org/publication/PubMed/23979601" }, { "database": "PubMed", "id": "23984323", "url": "https://glygen.org/publication/PubMed/23984323" }, { "database": "PubMed", "id": "23989949", "url": "https://glygen.org/publication/PubMed/23989949" }, { "database": "PubMed", "id": "23990921", "url": "https://glygen.org/publication/PubMed/23990921" }, { "database": "PubMed", "id": "23995785", "url": "https://glygen.org/publication/PubMed/23995785" }, { "database": "PubMed", "id": "23996929", "url": "https://glygen.org/publication/PubMed/23996929" }, { "database": "PubMed", "id": "24006489", "url": "https://glygen.org/publication/PubMed/24006489" }, { "database": "PubMed", "id": "24023012", "url": "https://glygen.org/publication/PubMed/24023012" }, { "database": "PubMed", "id": "24023938", "url": "https://glygen.org/publication/PubMed/24023938" }, { "database": "PubMed", "id": "24024143", "url": "https://glygen.org/publication/PubMed/24024143" }, { "database": "PubMed", "id": "24036604", "url": "https://glygen.org/publication/PubMed/24036604" }, { "database": "PubMed", "id": "24040255", "url": "https://glygen.org/publication/PubMed/24040255" }, { "database": "PubMed", "id": "24042734", "url": "https://glygen.org/publication/PubMed/24042734" }, { "database": "PubMed", "id": "24053190", "url": "https://glygen.org/publication/PubMed/24053190" }, { "database": "PubMed", "id": "24053672", "url": "https://glygen.org/publication/PubMed/24053672" }, { "database": "PubMed", "id": "24058557", "url": "https://glygen.org/publication/PubMed/24058557" }, { "database": "PubMed", "id": "24070020", "url": "https://glygen.org/publication/PubMed/24070020" }, { "database": "PubMed", "id": "24073922", "url": "https://glygen.org/publication/PubMed/24073922" }, { "database": "PubMed", "id": "24079335", "url": "https://glygen.org/publication/PubMed/24079335" }, { "database": "PubMed", "id": "24086535", "url": "https://glygen.org/publication/PubMed/24086535" }, { "database": "PubMed", "id": "24086728", "url": "https://glygen.org/publication/PubMed/24086728" }, { "database": "PubMed", "id": "24091816", "url": "https://glygen.org/publication/PubMed/24091816" }, { "database": "PubMed", "id": "24094245", "url": "https://glygen.org/publication/PubMed/24094245" }, { "database": "PubMed", "id": "24098375", "url": "https://glygen.org/publication/PubMed/24098375" }, { "database": "PubMed", "id": "24098385", "url": "https://glygen.org/publication/PubMed/24098385" }, { "database": "PubMed", "id": "24107614", "url": "https://glygen.org/publication/PubMed/24107614" }, { "database": "PubMed", "id": "24113173", "url": "https://glygen.org/publication/PubMed/24113173" }, { "database": "PubMed", "id": "24115733", "url": "https://glygen.org/publication/PubMed/24115733" }, { "database": "PubMed", "id": "24117074", "url": "https://glygen.org/publication/PubMed/24117074" }, { "database": "PubMed", "id": "24126619", "url": "https://glygen.org/publication/PubMed/24126619" }, { "database": "PubMed", "id": "24131623", "url": "https://glygen.org/publication/PubMed/24131623" }, { "database": "PubMed", "id": "24157493", "url": "https://glygen.org/publication/PubMed/24157493" }, { "database": "PubMed", "id": "24159375", "url": "https://glygen.org/publication/PubMed/24159375" }, { "database": "PubMed", "id": "24161930", "url": "https://glygen.org/publication/PubMed/24161930" }, { "database": "PubMed", "id": "24169049", "url": "https://glygen.org/publication/PubMed/24169049" }, { "database": "PubMed", "id": "24175297", "url": "https://glygen.org/publication/PubMed/24175297" }, { "database": "PubMed", "id": "24176845", "url": "https://glygen.org/publication/PubMed/24176845" }, { "database": "PubMed", "id": "24178756", "url": "https://glygen.org/publication/PubMed/24178756" }, { "database": "PubMed", "id": "24179501", "url": "https://glygen.org/publication/PubMed/24179501" }, { "database": "PubMed", "id": "24179530", "url": "https://glygen.org/publication/PubMed/24179530" }, { "database": "PubMed", "id": "24188406", "url": "https://glygen.org/publication/PubMed/24188406" }, { "database": "PubMed", "id": "24201812", "url": "https://glygen.org/publication/PubMed/24201812" }, { "database": "PubMed", "id": "24217713", "url": "https://glygen.org/publication/PubMed/24217713" }, { "database": "PubMed", "id": "24232099", "url": "https://glygen.org/publication/PubMed/24232099" }, { "database": "PubMed", "id": "24236150", "url": "https://glygen.org/publication/PubMed/24236150" }, { "database": "PubMed", "id": "24244481", "url": "https://glygen.org/publication/PubMed/24244481" }, { "database": "PubMed", "id": "24244612", "url": "https://glygen.org/publication/PubMed/24244612" }, { "database": "PubMed", "id": "24247980", "url": "https://glygen.org/publication/PubMed/24247980" }, { "database": "PubMed", "id": "24260371", "url": "https://glygen.org/publication/PubMed/24260371" }, { "database": "PubMed", "id": "24273605", "url": "https://glygen.org/publication/PubMed/24273605" }, { "database": "PubMed", "id": "24280348", "url": "https://glygen.org/publication/PubMed/24280348" }, { "database": "PubMed", "id": "24280901", "url": "https://glygen.org/publication/PubMed/24280901" }, { "database": "PubMed", "id": "24282571", "url": "https://glygen.org/publication/PubMed/24282571" }, { "database": "PubMed", "id": "24284390", "url": "https://glygen.org/publication/PubMed/24284390" }, { "database": "PubMed", "id": "24302564", "url": "https://glygen.org/publication/PubMed/24302564" }, { "database": "PubMed", "id": "24312263", "url": "https://glygen.org/publication/PubMed/24312263" }, { "database": "PubMed", "id": "24316235", "url": "https://glygen.org/publication/PubMed/24316235" }, { "database": "PubMed", "id": "24317467", "url": "https://glygen.org/publication/PubMed/24317467" }, { "database": "PubMed", "id": "24325618", "url": "https://glygen.org/publication/PubMed/24325618" }, { "database": "PubMed", "id": "24336406", "url": "https://glygen.org/publication/PubMed/24336406" }, { "database": "PubMed", "id": "24337632", "url": "https://glygen.org/publication/PubMed/24337632" }, { "database": "PubMed", "id": "24338765", "url": "https://glygen.org/publication/PubMed/24338765" }, { "database": "PubMed", "id": "24349321", "url": "https://glygen.org/publication/PubMed/24349321" }, { "database": "PubMed", "id": "24352480", "url": "https://glygen.org/publication/PubMed/24352480" }, { "database": "PubMed", "id": "24354797", "url": "https://glygen.org/publication/PubMed/24354797" }, { "database": "PubMed", "id": "24356956", "url": "https://glygen.org/publication/PubMed/24356956" }, { "database": "PubMed", "id": "24358196", "url": "https://glygen.org/publication/PubMed/24358196" }, { "database": "PubMed", "id": "24365180", "url": "https://glygen.org/publication/PubMed/24365180" }, { "database": "PubMed", "id": "24372645", "url": "https://glygen.org/publication/PubMed/24372645" }, { "database": "PubMed", "id": "24374242", "url": "https://glygen.org/publication/PubMed/24374242" }, { "database": "PubMed", "id": "24377058", "url": "https://glygen.org/publication/PubMed/24377058" }, { "database": "PubMed", "id": "24378649", "url": "https://glygen.org/publication/PubMed/24378649" }, { "database": "PubMed", "id": "24379655", "url": "https://glygen.org/publication/PubMed/24379655" }, { "database": "PubMed", "id": "24384983", "url": "https://glygen.org/publication/PubMed/24384983" }, { "database": "PubMed", "id": "24392034", "url": "https://glygen.org/publication/PubMed/24392034" }, { "database": "PubMed", "id": "24396487", "url": "https://glygen.org/publication/PubMed/24396487" }, { "database": "PubMed", "id": "24402647", "url": "https://glygen.org/publication/PubMed/24402647" }, { "database": "PubMed", "id": "24413065", "url": "https://glygen.org/publication/PubMed/24413065" }, { "database": "PubMed", "id": "24416349", "url": "https://glygen.org/publication/PubMed/24416349" }, { "database": "PubMed", "id": "24416418", "url": "https://glygen.org/publication/PubMed/24416418" }, { "database": "PubMed", "id": "24428908", "url": "https://glygen.org/publication/PubMed/24428908" }, { "database": "PubMed", "id": "24435307", "url": "https://glygen.org/publication/PubMed/24435307" }, { "database": "PubMed", "id": "24446434", "url": "https://glygen.org/publication/PubMed/24446434" }, { "database": "PubMed", "id": "24448243", "url": "https://glygen.org/publication/PubMed/24448243" }, { "database": "PubMed", "id": "24448490", "url": "https://glygen.org/publication/PubMed/24448490" }, { "database": "PubMed", "id": "24451322", "url": "https://glygen.org/publication/PubMed/24451322" }, { "database": "PubMed", "id": "24452601", "url": "https://glygen.org/publication/PubMed/24452601" }, { "database": "PubMed", "id": "24454800", "url": "https://glygen.org/publication/PubMed/24454800" }, { "database": "PubMed", "id": "24462769", "url": "https://glygen.org/publication/PubMed/24462769" }, { "database": "PubMed", "id": "24467442", "url": "https://glygen.org/publication/PubMed/24467442" }, { "database": "PubMed", "id": "24479521", "url": "https://glygen.org/publication/PubMed/24479521" }, { "database": "PubMed", "id": "24496460", "url": "https://glygen.org/publication/PubMed/24496460" }, { "database": "PubMed", "id": "24521094", "url": "https://glygen.org/publication/PubMed/24521094" }, { "database": "PubMed", "id": "24521217", "url": "https://glygen.org/publication/PubMed/24521217" }, { "database": "PubMed", "id": "24523415", "url": "https://glygen.org/publication/PubMed/24523415" }, { "database": "PubMed", "id": "24523904", "url": "https://glygen.org/publication/PubMed/24523904" }, { "database": "PubMed", "id": "24525337", "url": "https://glygen.org/publication/PubMed/24525337" }, { "database": "PubMed", "id": "24526702", "url": "https://glygen.org/publication/PubMed/24526702" }, { "database": "PubMed", "id": "24535192", "url": "https://glygen.org/publication/PubMed/24535192" }, { "database": "PubMed", "id": "24558442", "url": "https://glygen.org/publication/PubMed/24558442" }, { "database": "PubMed", "id": "24561239", "url": "https://glygen.org/publication/PubMed/24561239" }, { "database": "PubMed", "id": "24562770", "url": "https://glygen.org/publication/PubMed/24562770" }, { "database": "PubMed", "id": "24571487", "url": "https://glygen.org/publication/PubMed/24571487" }, { "database": "PubMed", "id": "24581231", "url": "https://glygen.org/publication/PubMed/24581231" }, { "database": "PubMed", "id": "24585214", "url": "https://glygen.org/publication/PubMed/24585214" }, { "database": "PubMed", "id": "24605828", "url": "https://glygen.org/publication/PubMed/24605828" }, { "database": "PubMed", "id": "24611062", "url": "https://glygen.org/publication/PubMed/24611062" }, { "database": "PubMed", "id": "24612393", "url": "https://glygen.org/publication/PubMed/24612393" }, { "database": "PubMed", "id": "24613353", "url": "https://glygen.org/publication/PubMed/24613353" }, { "database": "PubMed", "id": "24615340", "url": "https://glygen.org/publication/PubMed/24615340" }, { "database": "PubMed", "id": "24618420", "url": "https://glygen.org/publication/PubMed/24618420" }, { "database": "PubMed", "id": "24625973", "url": "https://glygen.org/publication/PubMed/24625973" }, { "database": "PubMed", "id": "24627641", "url": "https://glygen.org/publication/PubMed/24627641" }, { "database": "PubMed", "id": "24628780", "url": "https://glygen.org/publication/PubMed/24628780" }, { "database": "PubMed", "id": "24650522", "url": "https://glygen.org/publication/PubMed/24650522" }, { "database": "PubMed", "id": "24654606", "url": "https://glygen.org/publication/PubMed/24654606" }, { "database": "PubMed", "id": "24662831", "url": "https://glygen.org/publication/PubMed/24662831" }, { "database": "PubMed", "id": "24669186", "url": "https://glygen.org/publication/PubMed/24669186" }, { "database": "PubMed", "id": "24670043", "url": "https://glygen.org/publication/PubMed/24670043" }, { "database": "PubMed", "id": "24675668", "url": "https://glygen.org/publication/PubMed/24675668" }, { "database": "PubMed", "id": "24676635", "url": "https://glygen.org/publication/PubMed/24676635" }, { "database": "PubMed", "id": "24699303", "url": "https://glygen.org/publication/PubMed/24699303" }, { "database": "PubMed", "id": "24705275", "url": "https://glygen.org/publication/PubMed/24705275" }, { "database": "PubMed", "id": "24727660", "url": "https://glygen.org/publication/PubMed/24727660" }, { "database": "PubMed", "id": "24729100", "url": "https://glygen.org/publication/PubMed/24729100" }, { "database": "PubMed", "id": "24743054", "url": "https://glygen.org/publication/PubMed/24743054" }, { "database": "PubMed", "id": "24759784", "url": "https://glygen.org/publication/PubMed/24759784" }, { "database": "PubMed", "id": "24797310", "url": "https://glygen.org/publication/PubMed/24797310" }, { "database": "PubMed", "id": "24797432", "url": "https://glygen.org/publication/PubMed/24797432" }, { "database": "PubMed", "id": "24797434", "url": "https://glygen.org/publication/PubMed/24797434" }, { "database": "PubMed", "id": "24804226", "url": "https://glygen.org/publication/PubMed/24804226" }, { "database": "PubMed", "id": "24804268", "url": "https://glygen.org/publication/PubMed/24804268" }, { "database": "PubMed", "id": "24810113", "url": "https://glygen.org/publication/PubMed/24810113" }, { "database": "PubMed", "id": "24810758", "url": "https://glygen.org/publication/PubMed/24810758" }, { "database": "PubMed", "id": "24812621", "url": "https://glygen.org/publication/PubMed/24812621" }, { "database": "PubMed", "id": "24844349", "url": "https://glygen.org/publication/PubMed/24844349" }, { "database": "PubMed", "id": "24868319", "url": "https://glygen.org/publication/PubMed/24868319" }, { "database": "PubMed", "id": "24878056", "url": "https://glygen.org/publication/PubMed/24878056" }, { "database": "PubMed", "id": "24899686", "url": "https://glygen.org/publication/PubMed/24899686" }, { "database": "PubMed", "id": "24900620", "url": "https://glygen.org/publication/PubMed/24900620" }, { "database": "PubMed", "id": "24905095", "url": "https://glygen.org/publication/PubMed/24905095" }, { "database": "PubMed", "id": "24905466", "url": "https://glygen.org/publication/PubMed/24905466" }, { "database": "PubMed", "id": "24918199", "url": "https://glygen.org/publication/PubMed/24918199" }, { "database": "PubMed", "id": "24927123", "url": "https://glygen.org/publication/PubMed/24927123" }, { "database": "PubMed", "id": "24933731", "url": "https://glygen.org/publication/PubMed/24933731" }, { "database": "PubMed", "id": "24941119", "url": "https://glygen.org/publication/PubMed/24941119" }, { "database": "PubMed", "id": "24944883", "url": "https://glygen.org/publication/PubMed/24944883" }, { "database": "PubMed", "id": "24952732", "url": "https://glygen.org/publication/PubMed/24952732" }, { "database": "PubMed", "id": "24955034", "url": "https://glygen.org/publication/PubMed/24955034" }, { "database": "PubMed", "id": "24977346", "url": "https://glygen.org/publication/PubMed/24977346" }, { "database": "PubMed", "id": "24979261", "url": "https://glygen.org/publication/PubMed/24979261" }, { "database": "PubMed", "id": "24979463", "url": "https://glygen.org/publication/PubMed/24979463" }, { "database": "PubMed", "id": "24984001", "url": "https://glygen.org/publication/PubMed/24984001" }, { "database": "PubMed", "id": "24992302", "url": "https://glygen.org/publication/PubMed/24992302" }, { "database": "PubMed", "id": "24996256", "url": "https://glygen.org/publication/PubMed/24996256" }, { "database": "PubMed", "id": "25003810", "url": "https://glygen.org/publication/PubMed/25003810" }, { "database": "PubMed", "id": "25026292", "url": "https://glygen.org/publication/PubMed/25026292" }, { "database": "PubMed", "id": "25035961", "url": "https://glygen.org/publication/PubMed/25035961" }, { "database": "PubMed", "id": "25040157", "url": "https://glygen.org/publication/PubMed/25040157" }, { "database": "PubMed", "id": "25058613", "url": "https://glygen.org/publication/PubMed/25058613" }, { "database": "PubMed", "id": "25063029", "url": "https://glygen.org/publication/PubMed/25063029" }, { "database": "PubMed", "id": "25071759", "url": "https://glygen.org/publication/PubMed/25071759" }, { "database": "PubMed", "id": "25085593", "url": "https://glygen.org/publication/PubMed/25085593" }, { "database": "PubMed", "id": "25088800", "url": "https://glygen.org/publication/PubMed/25088800" }, { "database": "PubMed", "id": "25096023", "url": "https://glygen.org/publication/PubMed/25096023" }, { "database": "PubMed", "id": "25098276", "url": "https://glygen.org/publication/PubMed/25098276" }, { "database": "PubMed", "id": "25109354", "url": "https://glygen.org/publication/PubMed/25109354" }, { "database": "PubMed", "id": "25110549", "url": "https://glygen.org/publication/PubMed/25110549" }, { "database": "PubMed", "id": "25111376", "url": "https://glygen.org/publication/PubMed/25111376" }, { "database": "PubMed", "id": "25122478", "url": "https://glygen.org/publication/PubMed/25122478" }, { "database": "PubMed", "id": "25136826", "url": "https://glygen.org/publication/PubMed/25136826" }, { "database": "PubMed", "id": "25152245", "url": "https://glygen.org/publication/PubMed/25152245" }, { "database": "PubMed", "id": "25153728", "url": "https://glygen.org/publication/PubMed/25153728" }, { "database": "PubMed", "id": "25168062", "url": "https://glygen.org/publication/PubMed/25168062" }, { "database": "PubMed", "id": "25177796", "url": "https://glygen.org/publication/PubMed/25177796" }, { "database": "PubMed", "id": "25179402", "url": "https://glygen.org/publication/PubMed/25179402" }, { "database": "PubMed", "id": "25190803", "url": "https://glygen.org/publication/PubMed/25190803" }, { "database": "PubMed", "id": "25191523", "url": "https://glygen.org/publication/PubMed/25191523" }, { "database": "PubMed", "id": "25196260", "url": "https://glygen.org/publication/PubMed/25196260" }, { "database": "PubMed", "id": "25212826", "url": "https://glygen.org/publication/PubMed/25212826" }, { "database": "PubMed", "id": "25221952", "url": "https://glygen.org/publication/PubMed/25221952" }, { "database": "PubMed", "id": "25228590", "url": "https://glygen.org/publication/PubMed/25228590" }, { "database": "PubMed", "id": "25231347", "url": "https://glygen.org/publication/PubMed/25231347" }, { "database": "PubMed", "id": "25231727", "url": "https://glygen.org/publication/PubMed/25231727" }, { "database": "PubMed", "id": "25243120", "url": "https://glygen.org/publication/PubMed/25243120" }, { "database": "PubMed", "id": "25243186", "url": "https://glygen.org/publication/PubMed/25243186" }, { "database": "PubMed", "id": "25245332", "url": "https://glygen.org/publication/PubMed/25245332" }, { "database": "PubMed", "id": "25248616", "url": "https://glygen.org/publication/PubMed/25248616" }, { "database": "PubMed", "id": "25257523", "url": "https://glygen.org/publication/PubMed/25257523" }, { "database": "PubMed", "id": "25273559", "url": "https://glygen.org/publication/PubMed/25273559" }, { "database": "PubMed", "id": "25277204", "url": "https://glygen.org/publication/PubMed/25277204" }, { "database": "PubMed", "id": "25283550", "url": "https://glygen.org/publication/PubMed/25283550" }, { "database": "PubMed", "id": "25288334", "url": "https://glygen.org/publication/PubMed/25288334" }, { "database": "PubMed", "id": "25295093", "url": "https://glygen.org/publication/PubMed/25295093" }, { "database": "PubMed", "id": "25296973", "url": "https://glygen.org/publication/PubMed/25296973" }, { "database": "PubMed", "id": "25296981", "url": "https://glygen.org/publication/PubMed/25296981" }, { "database": "PubMed", "id": "25302072", "url": "https://glygen.org/publication/PubMed/25302072" }, { "database": "PubMed", "id": "25306901", "url": "https://glygen.org/publication/PubMed/25306901" }, { "database": "PubMed", "id": "25311506", "url": "https://glygen.org/publication/PubMed/25311506" }, { "database": "PubMed", "id": "25311616", "url": "https://glygen.org/publication/PubMed/25311616" }, { "database": "PubMed", "id": "25313141", "url": "https://glygen.org/publication/PubMed/25313141" }, { "database": "PubMed", "id": "25329617", "url": "https://glygen.org/publication/PubMed/25329617" }, { "database": "PubMed", "id": "25339152", "url": "https://glygen.org/publication/PubMed/25339152" }, { "database": "PubMed", "id": "25344208", "url": "https://glygen.org/publication/PubMed/25344208" }, { "database": "PubMed", "id": "25352995", "url": "https://glygen.org/publication/PubMed/25352995" }, { "database": "PubMed", "id": "25360740", "url": "https://glygen.org/publication/PubMed/25360740" }, { "database": "PubMed", "id": "25365190", "url": "https://glygen.org/publication/PubMed/25365190" }, { "database": "PubMed", "id": "25365322", "url": "https://glygen.org/publication/PubMed/25365322" }, { "database": "PubMed", "id": "25370471", "url": "https://glygen.org/publication/PubMed/25370471" }, { "database": "PubMed", "id": "25373319", "url": "https://glygen.org/publication/PubMed/25373319" }, { "database": "PubMed", "id": "25375133", "url": "https://glygen.org/publication/PubMed/25375133" }, { "database": "PubMed", "id": "25376904", "url": "https://glygen.org/publication/PubMed/25376904" }, { "database": "PubMed", "id": "25385184", "url": "https://glygen.org/publication/PubMed/25385184" }, { "database": "PubMed", "id": "25388642", "url": "https://glygen.org/publication/PubMed/25388642" }, { "database": "PubMed", "id": "25392303", "url": "https://glygen.org/publication/PubMed/25392303" }, { "database": "PubMed", "id": "25398131", "url": "https://glygen.org/publication/PubMed/25398131" }, { "database": "PubMed", "id": "25400915", "url": "https://glygen.org/publication/PubMed/25400915" }, { "database": "PubMed", "id": "25409876", "url": "https://glygen.org/publication/PubMed/25409876" }, { "database": "PubMed", "id": "25412313", "url": "https://glygen.org/publication/PubMed/25412313" }, { "database": "PubMed", "id": "25424429", "url": "https://glygen.org/publication/PubMed/25424429" }, { "database": "PubMed", "id": "25432075", "url": "https://glygen.org/publication/PubMed/25432075" }, { "database": "PubMed", "id": "25454348", "url": "https://glygen.org/publication/PubMed/25454348" }, { "database": "PubMed", "id": "25456951", "url": "https://glygen.org/publication/PubMed/25456951" }, { "database": "PubMed", "id": "25466244", "url": "https://glygen.org/publication/PubMed/25466244" }, { "database": "PubMed", "id": "25483727", "url": "https://glygen.org/publication/PubMed/25483727" }, { "database": "PubMed", "id": "25486524", "url": "https://glygen.org/publication/PubMed/25486524" }, { "database": "PubMed", "id": "25490861", "url": "https://glygen.org/publication/PubMed/25490861" }, { "database": "PubMed", "id": "25494980", "url": "https://glygen.org/publication/PubMed/25494980" }, { "database": "PubMed", "id": "25495560", "url": "https://glygen.org/publication/PubMed/25495560" }, { "database": "PubMed", "id": "25499217", "url": "https://glygen.org/publication/PubMed/25499217" }, { "database": "PubMed", "id": "25502934", "url": "https://glygen.org/publication/PubMed/25502934" }, { "database": "PubMed", "id": "25504433", "url": "https://glygen.org/publication/PubMed/25504433" }, { "database": "PubMed", "id": "25521510", "url": "https://glygen.org/publication/PubMed/25521510" }, { "database": "PubMed", "id": "25527452", "url": "https://glygen.org/publication/PubMed/25527452" }, { "database": "PubMed", "id": "25528216", "url": "https://glygen.org/publication/PubMed/25528216" }, { "database": "PubMed", "id": "25530715", "url": "https://glygen.org/publication/PubMed/25530715" }, { "database": "PubMed", "id": "25531880", "url": "https://glygen.org/publication/PubMed/25531880" }, { "database": "PubMed", "id": "25538040", "url": "https://glygen.org/publication/PubMed/25538040" }, { "database": "PubMed", "id": "25543088", "url": "https://glygen.org/publication/PubMed/25543088" }, { "database": "PubMed", "id": "25544763", "url": "https://glygen.org/publication/PubMed/25544763" }, { "database": "PubMed", "id": "25551293", "url": "https://glygen.org/publication/PubMed/25551293" }, { "database": "PubMed", "id": "25559258", "url": "https://glygen.org/publication/PubMed/25559258" }, { "database": "PubMed", "id": "25564612", "url": "https://glygen.org/publication/PubMed/25564612" }, { "database": "PubMed", "id": "25569743", "url": "https://glygen.org/publication/PubMed/25569743" }, { "database": "PubMed", "id": "25575302", "url": "https://glygen.org/publication/PubMed/25575302" }, { "database": "PubMed", "id": "25575882", "url": "https://glygen.org/publication/PubMed/25575882" }, { "database": "PubMed", "id": "25590801", "url": "https://glygen.org/publication/PubMed/25590801" }, { "database": "PubMed", "id": "25596738", "url": "https://glygen.org/publication/PubMed/25596738" }, { "database": "PubMed", "id": "25596739", "url": "https://glygen.org/publication/PubMed/25596739" }, { "database": "PubMed", "id": "25596747", "url": "https://glygen.org/publication/PubMed/25596747" }, { "database": "PubMed", "id": "25603236", "url": "https://glygen.org/publication/PubMed/25603236" }, { "database": "PubMed", "id": "25603341", "url": "https://glygen.org/publication/PubMed/25603341" }, { "database": "PubMed", "id": "25622969", "url": "https://glygen.org/publication/PubMed/25622969" }, { "database": "PubMed", "id": "25623055", "url": "https://glygen.org/publication/PubMed/25623055" }, { "database": "PubMed", "id": "25624750", "url": "https://glygen.org/publication/PubMed/25624750" }, { "database": "PubMed", "id": "25639875", "url": "https://glygen.org/publication/PubMed/25639875" }, { "database": "PubMed", "id": "25640278", "url": "https://glygen.org/publication/PubMed/25640278" }, { "database": "PubMed", "id": "25649767", "url": "https://glygen.org/publication/PubMed/25649767" }, { "database": "PubMed", "id": "25654224", "url": "https://glygen.org/publication/PubMed/25654224" }, { "database": "PubMed", "id": "25658447", "url": "https://glygen.org/publication/PubMed/25658447" }, { "database": "PubMed", "id": "25663935", "url": "https://glygen.org/publication/PubMed/25663935" }, { "database": "PubMed", "id": "25673820", "url": "https://glygen.org/publication/PubMed/25673820" }, { "database": "PubMed", "id": "25674039", "url": "https://glygen.org/publication/PubMed/25674039" }, { "database": "PubMed", "id": "25678401", "url": "https://glygen.org/publication/PubMed/25678401" }, { "database": "PubMed", "id": "25686830", "url": "https://glygen.org/publication/PubMed/25686830" }, { "database": "PubMed", "id": "25687330", "url": "https://glygen.org/publication/PubMed/25687330" }, { "database": "PubMed", "id": "25687876", "url": "https://glygen.org/publication/PubMed/25687876" }, { "database": "PubMed", "id": "25691053", "url": "https://glygen.org/publication/PubMed/25691053" }, { "database": "PubMed", "id": "25701004", "url": "https://glygen.org/publication/PubMed/25701004" }, { "database": "PubMed", "id": "25706943", "url": "https://glygen.org/publication/PubMed/25706943" }, { "database": "PubMed", "id": "25714596", "url": "https://glygen.org/publication/PubMed/25714596" }, { "database": "PubMed", "id": "25717186", "url": "https://glygen.org/publication/PubMed/25717186" }, { "database": "PubMed", "id": "25719244", "url": "https://glygen.org/publication/PubMed/25719244" }, { "database": "PubMed", "id": "25722288", "url": "https://glygen.org/publication/PubMed/25722288" }, { "database": "PubMed", "id": "25738366", "url": "https://glygen.org/publication/PubMed/25738366" }, { "database": "PubMed", "id": "25744065", "url": "https://glygen.org/publication/PubMed/25744065" }, { "database": "PubMed", "id": "25749514", "url": "https://glygen.org/publication/PubMed/25749514" }, { "database": "PubMed", "id": "25749517", "url": "https://glygen.org/publication/PubMed/25749517" }, { "database": "PubMed", "id": "25758096", "url": "https://glygen.org/publication/PubMed/25758096" }, { "database": "PubMed", "id": "25760103", "url": "https://glygen.org/publication/PubMed/25760103" }, { "database": "PubMed", "id": "25761241", "url": "https://glygen.org/publication/PubMed/25761241" }, { "database": "PubMed", "id": "25762619", "url": "https://glygen.org/publication/PubMed/25762619" }, { "database": "PubMed", "id": "25766325", "url": "https://glygen.org/publication/PubMed/25766325" }, { "database": "PubMed", "id": "25767601", "url": "https://glygen.org/publication/PubMed/25767601" }, { "database": "PubMed", "id": "25784113", "url": "https://glygen.org/publication/PubMed/25784113" }, { "database": "PubMed", "id": "25792811", "url": "https://glygen.org/publication/PubMed/25792811" }, { "database": "PubMed", "id": "25793261", "url": "https://glygen.org/publication/PubMed/25793261" }, { "database": "PubMed", "id": "25793983", "url": "https://glygen.org/publication/PubMed/25793983" }, { "database": "PubMed", "id": "25797048", "url": "https://glygen.org/publication/PubMed/25797048" }, { "database": "PubMed", "id": "25797258", "url": "https://glygen.org/publication/PubMed/25797258" }, { "database": "PubMed", "id": "25805567", "url": "https://glygen.org/publication/PubMed/25805567" }, { "database": "PubMed", "id": "25807261", "url": "https://glygen.org/publication/PubMed/25807261" }, { "database": "PubMed", "id": "25812014", "url": "https://glygen.org/publication/PubMed/25812014" }, { "database": "PubMed", "id": "25815363", "url": "https://glygen.org/publication/PubMed/25815363" }, { "database": "PubMed", "id": "25823655", "url": "https://glygen.org/publication/PubMed/25823655" }, { "database": "PubMed", "id": "25838434", "url": "https://glygen.org/publication/PubMed/25838434" }, { "database": "PubMed", "id": "25841779", "url": "https://glygen.org/publication/PubMed/25841779" }, { "database": "PubMed", "id": "25849580", "url": "https://glygen.org/publication/PubMed/25849580" }, { "database": "PubMed", "id": "25851605", "url": "https://glygen.org/publication/PubMed/25851605" }, { "database": "PubMed", "id": "25869208", "url": "https://glygen.org/publication/PubMed/25869208" }, { "database": "PubMed", "id": "25876175", "url": "https://glygen.org/publication/PubMed/25876175" }, { "database": "PubMed", "id": "25888955", "url": "https://glygen.org/publication/PubMed/25888955" }, { "database": "PubMed", "id": "25889839", "url": "https://glygen.org/publication/PubMed/25889839" }, { "database": "PubMed", "id": "25894595", "url": "https://glygen.org/publication/PubMed/25894595" }, { "database": "PubMed", "id": "25898313", "url": "https://glygen.org/publication/PubMed/25898313" }, { "database": "PubMed", "id": "25902785", "url": "https://glygen.org/publication/PubMed/25902785" }, { "database": "PubMed", "id": "25910265", "url": "https://glygen.org/publication/PubMed/25910265" }, { "database": "PubMed", "id": "25912234", "url": "https://glygen.org/publication/PubMed/25912234" }, { "database": "PubMed", "id": "25915159", "url": "https://glygen.org/publication/PubMed/25915159" }, { "database": "PubMed", "id": "25915946", "url": "https://glygen.org/publication/PubMed/25915946" }, { "database": "PubMed", "id": "25925728", "url": "https://glygen.org/publication/PubMed/25925728" }, { "database": "PubMed", "id": "25926716", "url": "https://glygen.org/publication/PubMed/25926716" }, { "database": "PubMed", "id": "25933112", "url": "https://glygen.org/publication/PubMed/25933112" }, { "database": "PubMed", "id": "25935150", "url": "https://glygen.org/publication/PubMed/25935150" }, { "database": "PubMed", "id": "25940338", "url": "https://glygen.org/publication/PubMed/25940338" }, { "database": "PubMed", "id": "25943101", "url": "https://glygen.org/publication/PubMed/25943101" }, { "database": "PubMed", "id": "25961827", "url": "https://glygen.org/publication/PubMed/25961827" }, { "database": "PubMed", "id": "25962159", "url": "https://glygen.org/publication/PubMed/25962159" }, { "database": "PubMed", "id": "25963408", "url": "https://glygen.org/publication/PubMed/25963408" }, { "database": "PubMed", "id": "25965345", "url": "https://glygen.org/publication/PubMed/25965345" }, { "database": "PubMed", "id": "25965823", "url": "https://glygen.org/publication/PubMed/25965823" }, { "database": "PubMed", "id": "25965829", "url": "https://glygen.org/publication/PubMed/25965829" }, { "database": "PubMed", "id": "25966642", "url": "https://glygen.org/publication/PubMed/25966642" }, { "database": "PubMed", "id": "25969668", "url": "https://glygen.org/publication/PubMed/25969668" }, { "database": "PubMed", "id": "25970784", "url": "https://glygen.org/publication/PubMed/25970784" }, { "database": "PubMed", "id": "25974307", "url": "https://glygen.org/publication/PubMed/25974307" }, { "database": "PubMed", "id": "25978653", "url": "https://glygen.org/publication/PubMed/25978653" }, { "database": "PubMed", "id": "25980493", "url": "https://glygen.org/publication/PubMed/25980493" }, { "database": "PubMed", "id": "25997619", "url": "https://glygen.org/publication/PubMed/25997619" }, { "database": "PubMed", "id": "25997832", "url": "https://glygen.org/publication/PubMed/25997832" }, { "database": "PubMed", "id": "25999352", "url": "https://glygen.org/publication/PubMed/25999352" }, { "database": "PubMed", "id": "26014912", "url": "https://glygen.org/publication/PubMed/26014912" }, { "database": "PubMed", "id": "26023079", "url": "https://glygen.org/publication/PubMed/26023079" }, { "database": "PubMed", "id": "26023089", "url": "https://glygen.org/publication/PubMed/26023089" }, { "database": "PubMed", "id": "26025205", "url": "https://glygen.org/publication/PubMed/26025205" }, { "database": "PubMed", "id": "26033966", "url": "https://glygen.org/publication/PubMed/26033966" }, { "database": "PubMed", "id": "26039541", "url": "https://glygen.org/publication/PubMed/26039541" }, { "database": "PubMed", "id": "26043921", "url": "https://glygen.org/publication/PubMed/26043921" }, { "database": "PubMed", "id": "26046303", "url": "https://glygen.org/publication/PubMed/26046303" }, { "database": "PubMed", "id": "26053093", "url": "https://glygen.org/publication/PubMed/26053093" }, { "database": "PubMed", "id": "26053620", "url": "https://glygen.org/publication/PubMed/26053620" }, { "database": "PubMed", "id": "26061531", "url": "https://glygen.org/publication/PubMed/26061531" }, { "database": "PubMed", "id": "26065894", "url": "https://glygen.org/publication/PubMed/26065894" }, { "database": "PubMed", "id": "26068789", "url": "https://glygen.org/publication/PubMed/26068789" }, { "database": "PubMed", "id": "26071201", "url": "https://glygen.org/publication/PubMed/26071201" }, { "database": "PubMed", "id": "26073086", "url": "https://glygen.org/publication/PubMed/26073086" }, { "database": "PubMed", "id": "26076587", "url": "https://glygen.org/publication/PubMed/26076587" }, { "database": "PubMed", "id": "26078792", "url": "https://glygen.org/publication/PubMed/26078792" }, { "database": "PubMed", "id": "26093985", "url": "https://glygen.org/publication/PubMed/26093985" }, { "database": "PubMed", "id": "26104298", "url": "https://glygen.org/publication/PubMed/26104298" }, { "database": "PubMed", "id": "26104664", "url": "https://glygen.org/publication/PubMed/26104664" }, { "database": "PubMed", "id": "26110874", "url": "https://glygen.org/publication/PubMed/26110874" }, { "database": "PubMed", "id": "26111001", "url": "https://glygen.org/publication/PubMed/26111001" }, { "database": "PubMed", "id": "26111057", "url": "https://glygen.org/publication/PubMed/26111057" }, { "database": "PubMed", "id": "26115086", "url": "https://glygen.org/publication/PubMed/26115086" }, { "database": "PubMed", "id": "26121251", "url": "https://glygen.org/publication/PubMed/26121251" }, { "database": "PubMed", "id": "26121643", "url": "https://glygen.org/publication/PubMed/26121643" }, { "database": "PubMed", "id": "26124328", "url": "https://glygen.org/publication/PubMed/26124328" }, { "database": "PubMed", "id": "26125228", "url": "https://glygen.org/publication/PubMed/26125228" }, { "database": "PubMed", "id": "26126266", "url": "https://glygen.org/publication/PubMed/26126266" }, { "database": "PubMed", "id": "26130968", "url": "https://glygen.org/publication/PubMed/26130968" }, { "database": "PubMed", "id": "26134617", "url": "https://glygen.org/publication/PubMed/26134617" }, { "database": "PubMed", "id": "26137449", "url": "https://glygen.org/publication/PubMed/26137449" }, { "database": "PubMed", "id": "26137586", "url": "https://glygen.org/publication/PubMed/26137586" }, { "database": "PubMed", "id": "26146988", "url": "https://glygen.org/publication/PubMed/26146988" }, { "database": "PubMed", "id": "26151347", "url": "https://glygen.org/publication/PubMed/26151347" }, { "database": "PubMed", "id": "26174628", "url": "https://glygen.org/publication/PubMed/26174628" }, { "database": "PubMed", "id": "26178819", "url": "https://glygen.org/publication/PubMed/26178819" }, { "database": "PubMed", "id": "26193288", "url": "https://glygen.org/publication/PubMed/26193288" }, { "database": "PubMed", "id": "26198194", "url": "https://glygen.org/publication/PubMed/26198194" }, { "database": "PubMed", "id": "26199094", "url": "https://glygen.org/publication/PubMed/26199094" }, { "database": "PubMed", "id": "26204252", "url": "https://glygen.org/publication/PubMed/26204252" }, { "database": "PubMed", "id": "26208478", "url": "https://glygen.org/publication/PubMed/26208478" }, { "database": "PubMed", "id": "26212441", "url": "https://glygen.org/publication/PubMed/26212441" }, { "database": "PubMed", "id": "26217307", "url": "https://glygen.org/publication/PubMed/26217307" }, { "database": "PubMed", "id": "26222278", "url": "https://glygen.org/publication/PubMed/26222278" }, { "database": "PubMed", "id": "26235620", "url": "https://glygen.org/publication/PubMed/26235620" }, { "database": "PubMed", "id": "26242183", "url": "https://glygen.org/publication/PubMed/26242183" }, { "database": "PubMed", "id": "26243309", "url": "https://glygen.org/publication/PubMed/26243309" }, { "database": "PubMed", "id": "26244501", "url": "https://glygen.org/publication/PubMed/26244501" }, { "database": "PubMed", "id": "26245346", "url": "https://glygen.org/publication/PubMed/26245346" }, { "database": "PubMed", "id": "26246284", "url": "https://glygen.org/publication/PubMed/26246284" }, { "database": "PubMed", "id": "26246598", "url": "https://glygen.org/publication/PubMed/26246598" }, { "database": "PubMed", "id": "26247730", "url": "https://glygen.org/publication/PubMed/26247730" }, { "database": "PubMed", "id": "26248315", "url": "https://glygen.org/publication/PubMed/26248315" }, { "database": "PubMed", "id": "26252009", "url": "https://glygen.org/publication/PubMed/26252009" }, { "database": "PubMed", "id": "26260992", "url": "https://glygen.org/publication/PubMed/26260992" }, { "database": "PubMed", "id": "26263002", "url": "https://glygen.org/publication/PubMed/26263002" }, { "database": "PubMed", "id": "26269411", "url": "https://glygen.org/publication/PubMed/26269411" }, { "database": "PubMed", "id": "26290457", "url": "https://glygen.org/publication/PubMed/26290457" }, { "database": "PubMed", "id": "26295469", "url": "https://glygen.org/publication/PubMed/26295469" }, { "database": "PubMed", "id": "26295809", "url": "https://glygen.org/publication/PubMed/26295809" }, { "database": "PubMed", "id": "26297026", "url": "https://glygen.org/publication/PubMed/26297026" }, { "database": "PubMed", "id": "26297582", "url": "https://glygen.org/publication/PubMed/26297582" }, { "database": "PubMed", "id": "26300786", "url": "https://glygen.org/publication/PubMed/26300786" }, { "database": "PubMed", "id": "26304753", "url": "https://glygen.org/publication/PubMed/26304753" }, { "database": "PubMed", "id": "26311050", "url": "https://glygen.org/publication/PubMed/26311050" }, { "database": "PubMed", "id": "26313911", "url": "https://glygen.org/publication/PubMed/26313911" }, { "database": "PubMed", "id": "26317515", "url": "https://glygen.org/publication/PubMed/26317515" }, { "database": "PubMed", "id": "26323834", "url": "https://glygen.org/publication/PubMed/26323834" }, { "database": "PubMed", "id": "26325371", "url": "https://glygen.org/publication/PubMed/26325371" }, { "database": "PubMed", "id": "26333304", "url": "https://glygen.org/publication/PubMed/26333304" }, { "database": "PubMed", "id": "26345302", "url": "https://glygen.org/publication/PubMed/26345302" }, { "database": "PubMed", "id": "26345416", "url": "https://glygen.org/publication/PubMed/26345416" }, { "database": "PubMed", "id": "26345496", "url": "https://glygen.org/publication/PubMed/26345496" }, { "database": "PubMed", "id": "26354606", "url": "https://glygen.org/publication/PubMed/26354606" }, { "database": "PubMed", "id": "26356562", "url": "https://glygen.org/publication/PubMed/26356562" }, { "database": "PubMed", "id": "26359868", "url": "https://glygen.org/publication/PubMed/26359868" }, { "database": "PubMed", "id": "26377961", "url": "https://glygen.org/publication/PubMed/26377961" }, { "database": "PubMed", "id": "26378810", "url": "https://glygen.org/publication/PubMed/26378810" }, { "database": "PubMed", "id": "26379195", "url": "https://glygen.org/publication/PubMed/26379195" }, { "database": "PubMed", "id": "26388843", "url": "https://glygen.org/publication/PubMed/26388843" }, { "database": "PubMed", "id": "26402468", "url": "https://glygen.org/publication/PubMed/26402468" }, { "database": "PubMed", "id": "26402673", "url": "https://glygen.org/publication/PubMed/26402673" }, { "database": "PubMed", "id": "26408176", "url": "https://glygen.org/publication/PubMed/26408176" }, { "database": "PubMed", "id": "26415504", "url": "https://glygen.org/publication/PubMed/26415504" }, { "database": "PubMed", "id": "26418879", "url": "https://glygen.org/publication/PubMed/26418879" }, { "database": "PubMed", "id": "26436418", "url": "https://glygen.org/publication/PubMed/26436418" }, { "database": "PubMed", "id": "26437242", "url": "https://glygen.org/publication/PubMed/26437242" }, { "database": "PubMed", "id": "26440416", "url": "https://glygen.org/publication/PubMed/26440416" }, { "database": "PubMed", "id": "26446840", "url": "https://glygen.org/publication/PubMed/26446840" }, { "database": "PubMed", "id": "26452025", "url": "https://glygen.org/publication/PubMed/26452025" }, { "database": "PubMed", "id": "26465605", "url": "https://glygen.org/publication/PubMed/26465605" }, { "database": "PubMed", "id": "26475209", "url": "https://glygen.org/publication/PubMed/26475209" }, { "database": "PubMed", "id": "26483070", "url": "https://glygen.org/publication/PubMed/26483070" }, { "database": "PubMed", "id": "26485768", "url": "https://glygen.org/publication/PubMed/26485768" }, { "database": "PubMed", "id": "26489763", "url": "https://glygen.org/publication/PubMed/26489763" }, { "database": "PubMed", "id": "26496029", "url": "https://glygen.org/publication/PubMed/26496029" }, { "database": "PubMed", "id": "26496360", "url": "https://glygen.org/publication/PubMed/26496360" }, { "database": "PubMed", "id": "26497580", "url": "https://glygen.org/publication/PubMed/26497580" }, { "database": "PubMed", "id": "26497682", "url": "https://glygen.org/publication/PubMed/26497682" }, { "database": "PubMed", "id": "26500282", "url": "https://glygen.org/publication/PubMed/26500282" }, { "database": "PubMed", "id": "26503469", "url": "https://glygen.org/publication/PubMed/26503469" }, { "database": "PubMed", "id": "26506516", "url": "https://glygen.org/publication/PubMed/26506516" }, { "database": "PubMed", "id": "26515499", "url": "https://glygen.org/publication/PubMed/26515499" }, { "database": "PubMed", "id": "26517508", "url": "https://glygen.org/publication/PubMed/26517508" }, { "database": "PubMed", "id": "26528819", "url": "https://glygen.org/publication/PubMed/26528819" }, { "database": "PubMed", "id": "26535060", "url": "https://glygen.org/publication/PubMed/26535060" }, { "database": "PubMed", "id": "26547929", "url": "https://glygen.org/publication/PubMed/26547929" }, { "database": "PubMed", "id": "26551880", "url": "https://glygen.org/publication/PubMed/26551880" }, { "database": "PubMed", "id": "26557719", "url": "https://glygen.org/publication/PubMed/26557719" }, { "database": "PubMed", "id": "26563429", "url": "https://glygen.org/publication/PubMed/26563429" }, { "database": "PubMed", "id": "26565813", "url": "https://glygen.org/publication/PubMed/26565813" }, { "database": "PubMed", "id": "26573229", "url": "https://glygen.org/publication/PubMed/26573229" }, { "database": "PubMed", "id": "26580610", "url": "https://glygen.org/publication/PubMed/26580610" }, { "database": "PubMed", "id": "26582390", "url": "https://glygen.org/publication/PubMed/26582390" }, { "database": "PubMed", "id": "26600389", "url": "https://glygen.org/publication/PubMed/26600389" }, { "database": "PubMed", "id": "26613407", "url": "https://glygen.org/publication/PubMed/26613407" }, { "database": "PubMed", "id": "26619345", "url": "https://glygen.org/publication/PubMed/26619345" }, { "database": "PubMed", "id": "26622940", "url": "https://glygen.org/publication/PubMed/26622940" }, { "database": "PubMed", "id": "26635480", "url": "https://glygen.org/publication/PubMed/26635480" }, { "database": "PubMed", "id": "26646023", "url": "https://glygen.org/publication/PubMed/26646023" }, { "database": "PubMed", "id": "26657290", "url": "https://glygen.org/publication/PubMed/26657290" }, { "database": "PubMed", "id": "26657292", "url": "https://glygen.org/publication/PubMed/26657292" }, { "database": "PubMed", "id": "26657992", "url": "https://glygen.org/publication/PubMed/26657992" }, { "database": "PubMed", "id": "26674329", "url": "https://glygen.org/publication/PubMed/26674329" }, { "database": "PubMed", "id": "26682007", "url": "https://glygen.org/publication/PubMed/26682007" }, { "database": "PubMed", "id": "26686089", "url": "https://glygen.org/publication/PubMed/26686089" }, { "database": "PubMed", "id": "26700664", "url": "https://glygen.org/publication/PubMed/26700664" }, { "database": "PubMed", "id": "26708293", "url": "https://glygen.org/publication/PubMed/26708293" }, { "database": "PubMed", "id": "26713606", "url": "https://glygen.org/publication/PubMed/26713606" }, { "database": "PubMed", "id": "26714756", "url": "https://glygen.org/publication/PubMed/26714756" }, { "database": "PubMed", "id": "26716408", "url": "https://glygen.org/publication/PubMed/26716408" }, { "database": "PubMed", "id": "26716652", "url": "https://glygen.org/publication/PubMed/26716652" }, { "database": "PubMed", "id": "26741489", "url": "https://glygen.org/publication/PubMed/26741489" }, { "database": "PubMed", "id": "26746999", "url": "https://glygen.org/publication/PubMed/26746999" }, { "database": "PubMed", "id": "26751215", "url": "https://glygen.org/publication/PubMed/26751215" }, { "database": "PubMed", "id": "26756219", "url": "https://glygen.org/publication/PubMed/26756219" }, { "database": "PubMed", "id": "26761017", "url": "https://glygen.org/publication/PubMed/26761017" }, { "database": "PubMed", "id": "26762111", "url": "https://glygen.org/publication/PubMed/26762111" }, { "database": "PubMed", "id": "26784926", "url": "https://glygen.org/publication/PubMed/26784926" }, { "database": "PubMed", "id": "26801096", "url": "https://glygen.org/publication/PubMed/26801096" }, { "database": "PubMed", "id": "26821070", "url": "https://glygen.org/publication/PubMed/26821070" }, { "database": "PubMed", "id": "26821351", "url": "https://glygen.org/publication/PubMed/26821351" }, { "database": "PubMed", "id": "26825989", "url": "https://glygen.org/publication/PubMed/26825989" }, { "database": "PubMed", "id": "26832662", "url": "https://glygen.org/publication/PubMed/26832662" }, { "database": "PubMed", "id": "26839558", "url": "https://glygen.org/publication/PubMed/26839558" }, { "database": "PubMed", "id": "26840085", "url": "https://glygen.org/publication/PubMed/26840085" }, { "database": "PubMed", "id": "26840401", "url": "https://glygen.org/publication/PubMed/26840401" }, { "database": "PubMed", "id": "26848618", "url": "https://glygen.org/publication/PubMed/26848618" }, { "database": "PubMed", "id": "26857837", "url": "https://glygen.org/publication/PubMed/26857837" }, { "database": "PubMed", "id": "26859575", "url": "https://glygen.org/publication/PubMed/26859575" }, { "database": "PubMed", "id": "26868304", "url": "https://glygen.org/publication/PubMed/26868304" }, { "database": "PubMed", "id": "26876672", "url": "https://glygen.org/publication/PubMed/26876672" }, { "database": "PubMed", "id": "26877709", "url": "https://glygen.org/publication/PubMed/26877709" }, { "database": "PubMed", "id": "26879559", "url": "https://glygen.org/publication/PubMed/26879559" }, { "database": "PubMed", "id": "26879868", "url": "https://glygen.org/publication/PubMed/26879868" }, { "database": "PubMed", "id": "26883103", "url": "https://glygen.org/publication/PubMed/26883103" }, { "database": "PubMed", "id": "26891914", "url": "https://glygen.org/publication/PubMed/26891914" }, { "database": "PubMed", "id": "26901182", "url": "https://glygen.org/publication/PubMed/26901182" }, { "database": "PubMed", "id": "26903300", "url": "https://glygen.org/publication/PubMed/26903300" }, { "database": "PubMed", "id": "26909320", "url": "https://glygen.org/publication/PubMed/26909320" }, { "database": "PubMed", "id": "26912358", "url": "https://glygen.org/publication/PubMed/26912358" }, { "database": "PubMed", "id": "26913805", "url": "https://glygen.org/publication/PubMed/26913805" }, { "database": "PubMed", "id": "26919095", "url": "https://glygen.org/publication/PubMed/26919095" }, { "database": "PubMed", "id": "26919097", "url": "https://glygen.org/publication/PubMed/26919097" }, { "database": "PubMed", "id": "26919102", "url": "https://glygen.org/publication/PubMed/26919102" }, { "database": "PubMed", "id": "26919105", "url": "https://glygen.org/publication/PubMed/26919105" }, { "database": "PubMed", "id": "26931119", "url": "https://glygen.org/publication/PubMed/26931119" }, { "database": "PubMed", "id": "26937641", "url": "https://glygen.org/publication/PubMed/26937641" }, { "database": "PubMed", "id": "26940018", "url": "https://glygen.org/publication/PubMed/26940018" }, { "database": "PubMed", "id": "26942872", "url": "https://glygen.org/publication/PubMed/26942872" }, { "database": "PubMed", "id": "26945062", "url": "https://glygen.org/publication/PubMed/26945062" }, { "database": "PubMed", "id": "26958085", "url": "https://glygen.org/publication/PubMed/26958085" }, { "database": "PubMed", "id": "26959555", "url": "https://glygen.org/publication/PubMed/26959555" }, { "database": "PubMed", "id": "26959890", "url": "https://glygen.org/publication/PubMed/26959890" }, { "database": "PubMed", "id": "26974310", "url": "https://glygen.org/publication/PubMed/26974310" }, { "database": "PubMed", "id": "26974342", "url": "https://glygen.org/publication/PubMed/26974342" }, { "database": "PubMed", "id": "26988603", "url": "https://glygen.org/publication/PubMed/26988603" }, { "database": "PubMed", "id": "26988652", "url": "https://glygen.org/publication/PubMed/26988652" }, { "database": "PubMed", "id": "26992218", "url": "https://glygen.org/publication/PubMed/26992218" }, { "database": "PubMed", "id": "26992219", "url": "https://glygen.org/publication/PubMed/26992219" }, { "database": "PubMed", "id": "26993775", "url": "https://glygen.org/publication/PubMed/26993775" }, { "database": "PubMed", "id": "26994872", "url": "https://glygen.org/publication/PubMed/26994872" }, { "database": "PubMed", "id": "26998277", "url": "https://glygen.org/publication/PubMed/26998277" }, { "database": "PubMed", "id": "27000941", "url": "https://glygen.org/publication/PubMed/27000941" }, { "database": "PubMed", "id": "27002278", "url": "https://glygen.org/publication/PubMed/27002278" }, { "database": "PubMed", "id": "27004402", "url": "https://glygen.org/publication/PubMed/27004402" }, { "database": "PubMed", "id": "27004406", "url": "https://glygen.org/publication/PubMed/27004406" }, { "database": "PubMed", "id": "27004407", "url": "https://glygen.org/publication/PubMed/27004407" }, { "database": "PubMed", "id": "27009203", "url": "https://glygen.org/publication/PubMed/27009203" }, { "database": "PubMed", "id": "27012197", "url": "https://glygen.org/publication/PubMed/27012197" }, { "database": "PubMed", "id": "27014421", "url": "https://glygen.org/publication/PubMed/27014421" }, { "database": "PubMed", "id": "27015122", "url": "https://glygen.org/publication/PubMed/27015122" }, { "database": "PubMed", "id": "27015152", "url": "https://glygen.org/publication/PubMed/27015152" }, { "database": "PubMed", "id": "27020593", "url": "https://glygen.org/publication/PubMed/27020593" }, { "database": "PubMed", "id": "27026523", "url": "https://glygen.org/publication/PubMed/27026523" }, { "database": "PubMed", "id": "27027448", "url": "https://glygen.org/publication/PubMed/27027448" }, { "database": "PubMed", "id": "27031247", "url": "https://glygen.org/publication/PubMed/27031247" }, { "database": "PubMed", "id": "27047993", "url": "https://glygen.org/publication/PubMed/27047993" }, { "database": "PubMed", "id": "27048245", "url": "https://glygen.org/publication/PubMed/27048245" }, { "database": "PubMed", "id": "27053161", "url": "https://glygen.org/publication/PubMed/27053161" }, { "database": "PubMed", "id": "27054717", "url": "https://glygen.org/publication/PubMed/27054717" }, { "database": "PubMed", "id": "27074558", "url": "https://glygen.org/publication/PubMed/27074558" }, { "database": "PubMed", "id": "27076174", "url": "https://glygen.org/publication/PubMed/27076174" }, { "database": "PubMed", "id": "27078847", "url": "https://glygen.org/publication/PubMed/27078847" }, { "database": "PubMed", "id": "27084428", "url": "https://glygen.org/publication/PubMed/27084428" }, { "database": "PubMed", "id": "27091625", "url": "https://glygen.org/publication/PubMed/27091625" }, { "database": "PubMed", "id": "27099352", "url": "https://glygen.org/publication/PubMed/27099352" }, { "database": "PubMed", "id": "27102434", "url": "https://glygen.org/publication/PubMed/27102434" }, { "database": "PubMed", "id": "27119232", "url": "https://glygen.org/publication/PubMed/27119232" }, { "database": "PubMed", "id": "27121055", "url": "https://glygen.org/publication/PubMed/27121055" }, { "database": "PubMed", "id": "27121065", "url": "https://glygen.org/publication/PubMed/27121065" }, { "database": "PubMed", "id": "27137757", "url": "https://glygen.org/publication/PubMed/27137757" }, { "database": "PubMed", "id": "27138223", "url": "https://glygen.org/publication/PubMed/27138223" }, { "database": "PubMed", "id": "27152946", "url": "https://glygen.org/publication/PubMed/27152946" }, { "database": "PubMed", "id": "27163678", "url": "https://glygen.org/publication/PubMed/27163678" }, { "database": "PubMed", "id": "27176505", "url": "https://glygen.org/publication/PubMed/27176505" }, { "database": "PubMed", "id": "27180807", "url": "https://glygen.org/publication/PubMed/27180807" }, { "database": "PubMed", "id": "27187380", "url": "https://glygen.org/publication/PubMed/27187380" }, { "database": "PubMed", "id": "27191994", "url": "https://glygen.org/publication/PubMed/27191994" }, { "database": "PubMed", "id": "27192118", "url": "https://glygen.org/publication/PubMed/27192118" }, { "database": "PubMed", "id": "27200496", "url": "https://glygen.org/publication/PubMed/27200496" }, { "database": "PubMed", "id": "27211495", "url": "https://glygen.org/publication/PubMed/27211495" }, { "database": "PubMed", "id": "27220846", "url": "https://glygen.org/publication/PubMed/27220846" }, { "database": "PubMed", "id": "27223432", "url": "https://glygen.org/publication/PubMed/27223432" }, { "database": "PubMed", "id": "27239959", "url": "https://glygen.org/publication/PubMed/27239959" }, { "database": "PubMed", "id": "27262235", "url": "https://glygen.org/publication/PubMed/27262235" }, { "database": "PubMed", "id": "27274989", "url": "https://glygen.org/publication/PubMed/27274989" }, { "database": "PubMed", "id": "27283899", "url": "https://glygen.org/publication/PubMed/27283899" }, { "database": "PubMed", "id": "27285760", "url": "https://glygen.org/publication/PubMed/27285760" }, { "database": "PubMed", "id": "27285995", "url": "https://glygen.org/publication/PubMed/27285995" }, { "database": "PubMed", "id": "27290989", "url": "https://glygen.org/publication/PubMed/27290989" }, { "database": "PubMed", "id": "27294151", "url": "https://glygen.org/publication/PubMed/27294151" }, { "database": "PubMed", "id": "27294206", "url": "https://glygen.org/publication/PubMed/27294206" }, { "database": "PubMed", "id": "27302366", "url": "https://glygen.org/publication/PubMed/27302366" }, { "database": "PubMed", "id": "27304189", "url": "https://glygen.org/publication/PubMed/27304189" }, { "database": "PubMed", "id": "27304216", "url": "https://glygen.org/publication/PubMed/27304216" }, { "database": "PubMed", "id": "27308350", "url": "https://glygen.org/publication/PubMed/27308350" }, { "database": "PubMed", "id": "27323778", "url": "https://glygen.org/publication/PubMed/27323778" }, { "database": "PubMed", "id": "27323822", "url": "https://glygen.org/publication/PubMed/27323822" }, { "database": "PubMed", "id": "27324222", "url": "https://glygen.org/publication/PubMed/27324222" }, { "database": "PubMed", "id": "27328758", "url": "https://glygen.org/publication/PubMed/27328758" }, { "database": "PubMed", "id": "27346647", "url": "https://glygen.org/publication/PubMed/27346647" }, { "database": "PubMed", "id": "27374081", "url": "https://glygen.org/publication/PubMed/27374081" }, { "database": "PubMed", "id": "27379204", "url": "https://glygen.org/publication/PubMed/27379204" }, { "database": "PubMed", "id": "27385333", "url": "https://glygen.org/publication/PubMed/27385333" }, { "database": "PubMed", "id": "27387559", "url": "https://glygen.org/publication/PubMed/27387559" }, { "database": "PubMed", "id": "27390173", "url": "https://glygen.org/publication/PubMed/27390173" }, { "database": "PubMed", "id": "27391151", "url": "https://glygen.org/publication/PubMed/27391151" }, { "database": "PubMed", "id": "27391443", "url": "https://glygen.org/publication/PubMed/27391443" }, { "database": "PubMed", "id": "27412013", "url": "https://glygen.org/publication/PubMed/27412013" }, { "database": "PubMed", "id": "27422524", "url": "https://glygen.org/publication/PubMed/27422524" }, { "database": "PubMed", "id": "27447863", "url": "https://glygen.org/publication/PubMed/27447863" }, { "database": "PubMed", "id": "27449083", "url": "https://glygen.org/publication/PubMed/27449083" }, { "database": "PubMed", "id": "27451907", "url": "https://glygen.org/publication/PubMed/27451907" }, { "database": "PubMed", "id": "27465688", "url": "https://glygen.org/publication/PubMed/27465688" }, { "database": "PubMed", "id": "27467927", "url": "https://glygen.org/publication/PubMed/27467927" }, { "database": "PubMed", "id": "27481183", "url": "https://glygen.org/publication/PubMed/27481183" }, { "database": "PubMed", "id": "27481935", "url": "https://glygen.org/publication/PubMed/27481935" }, { "database": "PubMed", "id": "27484721", "url": "https://glygen.org/publication/PubMed/27484721" }, { "database": "PubMed", "id": "27486771", "url": "https://glygen.org/publication/PubMed/27486771" }, { "database": "PubMed", "id": "27487122", "url": "https://glygen.org/publication/PubMed/27487122" }, { "database": "PubMed", "id": "27487130", "url": "https://glygen.org/publication/PubMed/27487130" }, { "database": "PubMed", "id": "27487157", "url": "https://glygen.org/publication/PubMed/27487157" }, { "database": "PubMed", "id": "27489350", "url": "https://glygen.org/publication/PubMed/27489350" }, { "database": "PubMed", "id": "27494022", "url": "https://glygen.org/publication/PubMed/27494022" }, { "database": "PubMed", "id": "27494849", "url": "https://glygen.org/publication/PubMed/27494849" }, { "database": "PubMed", "id": "27494886", "url": "https://glygen.org/publication/PubMed/27494886" }, { "database": "PubMed", "id": "27494895", "url": "https://glygen.org/publication/PubMed/27494895" }, { "database": "PubMed", "id": "27499633", "url": "https://glygen.org/publication/PubMed/27499633" }, { "database": "PubMed", "id": "27506466", "url": "https://glygen.org/publication/PubMed/27506466" }, { "database": "PubMed", "id": "27533087", "url": "https://glygen.org/publication/PubMed/27533087" }, { "database": "PubMed", "id": "27543462", "url": "https://glygen.org/publication/PubMed/27543462" }, { "database": "PubMed", "id": "27548722", "url": "https://glygen.org/publication/PubMed/27548722" }, { "database": "PubMed", "id": "27551486", "url": "https://glygen.org/publication/PubMed/27551486" }, { "database": "PubMed", "id": "27561791", "url": "https://glygen.org/publication/PubMed/27561791" }, { "database": "PubMed", "id": "27566939", "url": "https://glygen.org/publication/PubMed/27566939" }, { "database": "PubMed", "id": "27601656", "url": "https://glygen.org/publication/PubMed/27601656" }, { "database": "PubMed", "id": "27602585", "url": "https://glygen.org/publication/PubMed/27602585" }, { "database": "PubMed", "id": "27602766", "url": "https://glygen.org/publication/PubMed/27602766" }, { "database": "PubMed", "id": "27611696", "url": "https://glygen.org/publication/PubMed/27611696" }, { "database": "PubMed", "id": "27613837", "url": "https://glygen.org/publication/PubMed/27613837" }, { "database": "PubMed", "id": "27622707", "url": "https://glygen.org/publication/PubMed/27622707" }, { "database": "PubMed", "id": "27627109", "url": "https://glygen.org/publication/PubMed/27627109" }, { "database": "PubMed", "id": "27627761", "url": "https://glygen.org/publication/PubMed/27627761" }, { "database": "PubMed", "id": "27634878", "url": "https://glygen.org/publication/PubMed/27634878" }, { "database": "PubMed", "id": "27636107", "url": "https://glygen.org/publication/PubMed/27636107" }, { "database": "PubMed", "id": "27642646", "url": "https://glygen.org/publication/PubMed/27642646" }, { "database": "PubMed", "id": "27650895", "url": "https://glygen.org/publication/PubMed/27650895" }, { "database": "PubMed", "id": "27652381", "url": "https://glygen.org/publication/PubMed/27652381" }, { "database": "PubMed", "id": "27654866", "url": "https://glygen.org/publication/PubMed/27654866" }, { "database": "PubMed", "id": "27656263", "url": "https://glygen.org/publication/PubMed/27656263" }, { "database": "PubMed", "id": "27659207", "url": "https://glygen.org/publication/PubMed/27659207" }, { "database": "PubMed", "id": "27659528", "url": "https://glygen.org/publication/PubMed/27659528" }, { "database": "PubMed", "id": "27661108", "url": "https://glygen.org/publication/PubMed/27661108" }, { "database": "PubMed", "id": "27680387", "url": "https://glygen.org/publication/PubMed/27680387" }, { "database": "PubMed", "id": "27688096", "url": "https://glygen.org/publication/PubMed/27688096" }, { "database": "PubMed", "id": "27694961", "url": "https://glygen.org/publication/PubMed/27694961" }, { "database": "PubMed", "id": "27694970", "url": "https://glygen.org/publication/PubMed/27694970" }, { "database": "PubMed", "id": "27697523", "url": "https://glygen.org/publication/PubMed/27697523" }, { "database": "PubMed", "id": "27698389", "url": "https://glygen.org/publication/PubMed/27698389" }, { "database": "PubMed", "id": "27698667", "url": "https://glygen.org/publication/PubMed/27698667" }, { "database": "PubMed", "id": "27757122", "url": "https://glygen.org/publication/PubMed/27757122" }, { "database": "PubMed", "id": "27762303", "url": "https://glygen.org/publication/PubMed/27762303" }, { "database": "PubMed", "id": "27764189", "url": "https://glygen.org/publication/PubMed/27764189" }, { "database": "PubMed", "id": "27768588", "url": "https://glygen.org/publication/PubMed/27768588" }, { "database": "PubMed", "id": "27769069", "url": "https://glygen.org/publication/PubMed/27769069" }, { "database": "PubMed", "id": "27776559", "url": "https://glygen.org/publication/PubMed/27776559" }, { "database": "PubMed", "id": "27784766", "url": "https://glygen.org/publication/PubMed/27784766" }, { "database": "PubMed", "id": "27800505", "url": "https://glygen.org/publication/PubMed/27800505" }, { "database": "PubMed", "id": "27807598", "url": "https://glygen.org/publication/PubMed/27807598" }, { "database": "PubMed", "id": "27809307", "url": "https://glygen.org/publication/PubMed/27809307" }, { "database": "PubMed", "id": "27811362", "url": "https://glygen.org/publication/PubMed/27811362" }, { "database": "PubMed", "id": "27829222", "url": "https://glygen.org/publication/PubMed/27829222" }, { "database": "PubMed", "id": "27846451", "url": "https://glygen.org/publication/PubMed/27846451" }, { "database": "PubMed", "id": "27849011", "url": "https://glygen.org/publication/PubMed/27849011" }, { "database": "PubMed", "id": "27853260", "url": "https://glygen.org/publication/PubMed/27853260" }, { "database": "PubMed", "id": "27863406", "url": "https://glygen.org/publication/PubMed/27863406" }, { "database": "PubMed", "id": "27866093", "url": "https://glygen.org/publication/PubMed/27866093" }, { "database": "PubMed", "id": "27888634", "url": "https://glygen.org/publication/PubMed/27888634" }, { "database": "PubMed", "id": "27894090", "url": "https://glygen.org/publication/PubMed/27894090" }, { "database": "PubMed", "id": "27896950", "url": "https://glygen.org/publication/PubMed/27896950" }, { "database": "PubMed", "id": "27900025", "url": "https://glygen.org/publication/PubMed/27900025" }, { "database": "PubMed", "id": "27901111", "url": "https://glygen.org/publication/PubMed/27901111" }, { "database": "PubMed", "id": "27919290", "url": "https://glygen.org/publication/PubMed/27919290" }, { "database": "PubMed", "id": "27922982", "url": "https://glygen.org/publication/PubMed/27922982" }, { "database": "PubMed", "id": "27966531", "url": "https://glygen.org/publication/PubMed/27966531" }, { "database": "PubMed", "id": "27974696", "url": "https://glygen.org/publication/PubMed/27974696" }, { "database": "PubMed", "id": "27988337", "url": "https://glygen.org/publication/PubMed/27988337" }, { "database": "PubMed", "id": "27992958", "url": "https://glygen.org/publication/PubMed/27992958" }, { "database": "PubMed", "id": "28002802", "url": "https://glygen.org/publication/PubMed/28002802" }, { "database": "PubMed", "id": "28003335", "url": "https://glygen.org/publication/PubMed/28003335" }, { "database": "PubMed", "id": "28008153", "url": "https://glygen.org/publication/PubMed/28008153" }, { "database": "PubMed", "id": "28008155", "url": "https://glygen.org/publication/PubMed/28008155" }, { "database": "PubMed", "id": "28025104", "url": "https://glygen.org/publication/PubMed/28025104" }, { "database": "PubMed", "id": "28035062", "url": "https://glygen.org/publication/PubMed/28035062" }, { "database": "PubMed", "id": "28035333", "url": "https://glygen.org/publication/PubMed/28035333" }, { "database": "PubMed", "id": "28052020", "url": "https://glygen.org/publication/PubMed/28052020" }, { "database": "PubMed", "id": "28056899", "url": "https://glygen.org/publication/PubMed/28056899" }, { "database": "PubMed", "id": "28061880", "url": "https://glygen.org/publication/PubMed/28061880" }, { "database": "PubMed", "id": "28067284", "url": "https://glygen.org/publication/PubMed/28067284" }, { "database": "PubMed", "id": "28072855", "url": "https://glygen.org/publication/PubMed/28072855" }, { "database": "PubMed", "id": "28075016", "url": "https://glygen.org/publication/PubMed/28075016" }, { "database": "PubMed", "id": "28076324", "url": "https://glygen.org/publication/PubMed/28076324" }, { "database": "PubMed", "id": "28096970", "url": "https://glygen.org/publication/PubMed/28096970" }, { "database": "PubMed", "id": "28107519", "url": "https://glygen.org/publication/PubMed/28107519" }, { "database": "PubMed", "id": "28123351", "url": "https://glygen.org/publication/PubMed/28123351" }, { "database": "PubMed", "id": "28139498", "url": "https://glygen.org/publication/PubMed/28139498" }, { "database": "PubMed", "id": "28143890", "url": "https://glygen.org/publication/PubMed/28143890" }, { "database": "PubMed", "id": "28151479", "url": "https://glygen.org/publication/PubMed/28151479" }, { "database": "PubMed", "id": "28152500", "url": "https://glygen.org/publication/PubMed/28152500" }, { "database": "PubMed", "id": "28176801", "url": "https://glygen.org/publication/PubMed/28176801" }, { "database": "PubMed", "id": "28179017", "url": "https://glygen.org/publication/PubMed/28179017" }, { "database": "PubMed", "id": "28188308", "url": "https://glygen.org/publication/PubMed/28188308" }, { "database": "PubMed", "id": "28190771", "url": "https://glygen.org/publication/PubMed/28190771" }, { "database": "PubMed", "id": "28208754", "url": "https://glygen.org/publication/PubMed/28208754" }, { "database": "PubMed", "id": "28209617", "url": "https://glygen.org/publication/PubMed/28209617" }, { "database": "PubMed", "id": "28209923", "url": "https://glygen.org/publication/PubMed/28209923" }, { "database": "PubMed", "id": "28213783", "url": "https://glygen.org/publication/PubMed/28213783" }, { "database": "PubMed", "id": "28217097", "url": "https://glygen.org/publication/PubMed/28217097" }, { "database": "PubMed", "id": "28218907", "url": "https://glygen.org/publication/PubMed/28218907" }, { "database": "PubMed", "id": "28231291", "url": "https://glygen.org/publication/PubMed/28231291" }, { "database": "PubMed", "id": "28231796", "url": "https://glygen.org/publication/PubMed/28231796" }, { "database": "PubMed", "id": "28232663", "url": "https://glygen.org/publication/PubMed/28232663" }, { "database": "PubMed", "id": "28240737", "url": "https://glygen.org/publication/PubMed/28240737" }, { "database": "PubMed", "id": "28246389", "url": "https://glygen.org/publication/PubMed/28246389" }, { "database": "PubMed", "id": "28247844", "url": "https://glygen.org/publication/PubMed/28247844" }, { "database": "PubMed", "id": "28249041", "url": "https://glygen.org/publication/PubMed/28249041" }, { "database": "PubMed", "id": "28262546", "url": "https://glygen.org/publication/PubMed/28262546" }, { "database": "PubMed", "id": "28276427", "url": "https://glygen.org/publication/PubMed/28276427" }, { "database": "PubMed", "id": "28285136", "url": "https://glygen.org/publication/PubMed/28285136" }, { "database": "PubMed", "id": "28289332", "url": "https://glygen.org/publication/PubMed/28289332" }, { "database": "PubMed", "id": "28294973", "url": "https://glygen.org/publication/PubMed/28294973" }, { "database": "PubMed", "id": "28296156", "url": "https://glygen.org/publication/PubMed/28296156" }, { "database": "PubMed", "id": "28303961", "url": "https://glygen.org/publication/PubMed/28303961" }, { "database": "PubMed", "id": "28316325", "url": "https://glygen.org/publication/PubMed/28316325" }, { "database": "PubMed", "id": "28320338", "url": "https://glygen.org/publication/PubMed/28320338" }, { "database": "PubMed", "id": "28332309", "url": "https://glygen.org/publication/PubMed/28332309" }, { "database": "PubMed", "id": "28332553", "url": "https://glygen.org/publication/PubMed/28332553" }, { "database": "PubMed", "id": "28332584", "url": "https://glygen.org/publication/PubMed/28332584" }, { "database": "PubMed", "id": "28337019", "url": "https://glygen.org/publication/PubMed/28337019" }, { "database": "PubMed", "id": "28345588", "url": "https://glygen.org/publication/PubMed/28345588" }, { "database": "PubMed", "id": "28345638", "url": "https://glygen.org/publication/PubMed/28345638" }, { "database": "PubMed", "id": "28348404", "url": "https://glygen.org/publication/PubMed/28348404" }, { "database": "PubMed", "id": "28349073", "url": "https://glygen.org/publication/PubMed/28349073" }, { "database": "PubMed", "id": "28352764", "url": "https://glygen.org/publication/PubMed/28352764" }, { "database": "PubMed", "id": "28356941", "url": "https://glygen.org/publication/PubMed/28356941" }, { "database": "PubMed", "id": "28359316", "url": "https://glygen.org/publication/PubMed/28359316" }, { "database": "PubMed", "id": "28360087", "url": "https://glygen.org/publication/PubMed/28360087" }, { "database": "PubMed", "id": "28367274", "url": "https://glygen.org/publication/PubMed/28367274" }, { "database": "PubMed", "id": "28370702", "url": "https://glygen.org/publication/PubMed/28370702" }, { "database": "PubMed", "id": "28380428", "url": "https://glygen.org/publication/PubMed/28380428" }, { "database": "PubMed", "id": "28380463", "url": "https://glygen.org/publication/PubMed/28380463" }, { "database": "PubMed", "id": "28382169", "url": "https://glygen.org/publication/PubMed/28382169" }, { "database": "PubMed", "id": "28402933", "url": "https://glygen.org/publication/PubMed/28402933" }, { "database": "PubMed", "id": "28410531", "url": "https://glygen.org/publication/PubMed/28410531" }, { "database": "PubMed", "id": "28415790", "url": "https://glygen.org/publication/PubMed/28415790" }, { "database": "PubMed", "id": "28427860", "url": "https://glygen.org/publication/PubMed/28427860" }, { "database": "PubMed", "id": "28431901", "url": "https://glygen.org/publication/PubMed/28431901" }, { "database": "PubMed", "id": "28432984", "url": "https://glygen.org/publication/PubMed/28432984" }, { "database": "PubMed", "id": "28440394", "url": "https://glygen.org/publication/PubMed/28440394" }, { "database": "PubMed", "id": "28442995", "url": "https://glygen.org/publication/PubMed/28442995" }, { "database": "PubMed", "id": "28445151", "url": "https://glygen.org/publication/PubMed/28445151" }, { "database": "PubMed", "id": "28448438", "url": "https://glygen.org/publication/PubMed/28448438" }, { "database": "PubMed", "id": "28460455", "url": "https://glygen.org/publication/PubMed/28460455" }, { "database": "PubMed", "id": "28464039", "url": "https://glygen.org/publication/PubMed/28464039" }, { "database": "PubMed", "id": "28465354", "url": "https://glygen.org/publication/PubMed/28465354" }, { "database": "PubMed", "id": "28468326", "url": "https://glygen.org/publication/PubMed/28468326" }, { "database": "PubMed", "id": "28470144", "url": "https://glygen.org/publication/PubMed/28470144" }, { "database": "PubMed", "id": "28475412", "url": "https://glygen.org/publication/PubMed/28475412" }, { "database": "PubMed", "id": "28476032", "url": "https://glygen.org/publication/PubMed/28476032" }, { "database": "PubMed", "id": "28481292", "url": "https://glygen.org/publication/PubMed/28481292" }, { "database": "PubMed", "id": "28484273", "url": "https://glygen.org/publication/PubMed/28484273" }, { "database": "PubMed", "id": "28489572", "url": "https://glygen.org/publication/PubMed/28489572" }, { "database": "PubMed", "id": "28518144", "url": "https://glygen.org/publication/PubMed/28518144" }, { "database": "PubMed", "id": "28525374", "url": "https://glygen.org/publication/PubMed/28525374" }, { "database": "PubMed", "id": "28529765", "url": "https://glygen.org/publication/PubMed/28529765" }, { "database": "PubMed", "id": "28534510", "url": "https://glygen.org/publication/PubMed/28534510" }, { "database": "PubMed", "id": "28542590", "url": "https://glygen.org/publication/PubMed/28542590" }, { "database": "PubMed", "id": "28545581", "url": "https://glygen.org/publication/PubMed/28545581" }, { "database": "PubMed", "id": "28548645", "url": "https://glygen.org/publication/PubMed/28548645" }, { "database": "PubMed", "id": "28558072", "url": "https://glygen.org/publication/PubMed/28558072" }, { "database": "PubMed", "id": "28573133", "url": "https://glygen.org/publication/PubMed/28573133" }, { "database": "PubMed", "id": "28579808", "url": "https://glygen.org/publication/PubMed/28579808" }, { "database": "PubMed", "id": "28588706", "url": "https://glygen.org/publication/PubMed/28588706" }, { "database": "PubMed", "id": "28591580", "url": "https://glygen.org/publication/PubMed/28591580" }, { "database": "PubMed", "id": "28614631", "url": "https://glygen.org/publication/PubMed/28614631" }, { "database": "PubMed", "id": "28614911", "url": "https://glygen.org/publication/PubMed/28614911" }, { "database": "PubMed", "id": "28632179", "url": "https://glygen.org/publication/PubMed/28632179" }, { "database": "PubMed", "id": "28632938", "url": "https://glygen.org/publication/PubMed/28632938" }, { "database": "PubMed", "id": "28634229", "url": "https://glygen.org/publication/PubMed/28634229" }, { "database": "PubMed", "id": "28650797", "url": "https://glygen.org/publication/PubMed/28650797" }, { "database": "PubMed", "id": "28659580", "url": "https://glygen.org/publication/PubMed/28659580" }, { "database": "PubMed", "id": "28663750", "url": "https://glygen.org/publication/PubMed/28663750" }, { "database": "PubMed", "id": "28664914", "url": "https://glygen.org/publication/PubMed/28664914" }, { "database": "PubMed", "id": "28666462", "url": "https://glygen.org/publication/PubMed/28666462" }, { "database": "PubMed", "id": "28669988", "url": "https://glygen.org/publication/PubMed/28669988" }, { "database": "PubMed", "id": "28673204", "url": "https://glygen.org/publication/PubMed/28673204" }, { "database": "PubMed", "id": "28675026", "url": "https://glygen.org/publication/PubMed/28675026" }, { "database": "PubMed", "id": "28691020", "url": "https://glygen.org/publication/PubMed/28691020" }, { "database": "PubMed", "id": "28691365", "url": "https://glygen.org/publication/PubMed/28691365" }, { "database": "PubMed", "id": "28694518", "url": "https://glygen.org/publication/PubMed/28694518" }, { "database": "PubMed", "id": "28698260", "url": "https://glygen.org/publication/PubMed/28698260" }, { "database": "PubMed", "id": "28699701", "url": "https://glygen.org/publication/PubMed/28699701" }, { "database": "PubMed", "id": "28700668", "url": "https://glygen.org/publication/PubMed/28700668" }, { "database": "PubMed", "id": "28701722", "url": "https://glygen.org/publication/PubMed/28701722" }, { "database": "PubMed", "id": "28701787", "url": "https://glygen.org/publication/PubMed/28701787" }, { "database": "PubMed", "id": "28762556", "url": "https://glygen.org/publication/PubMed/28762556" }, { "database": "PubMed", "id": "28765579", "url": "https://glygen.org/publication/PubMed/28765579" }, { "database": "PubMed", "id": "28765641", "url": "https://glygen.org/publication/PubMed/28765641" }, { "database": "PubMed", "id": "28771224", "url": "https://glygen.org/publication/PubMed/28771224" }, { "database": "PubMed", "id": "28790888", "url": "https://glygen.org/publication/PubMed/28790888" }, { "database": "PubMed", "id": "28794469", "url": "https://glygen.org/publication/PubMed/28794469" }, { "database": "PubMed", "id": "28794477", "url": "https://glygen.org/publication/PubMed/28794477" }, { "database": "PubMed", "id": "28796787", "url": "https://glygen.org/publication/PubMed/28796787" }, { "database": "PubMed", "id": "28801576", "url": "https://glygen.org/publication/PubMed/28801576" }, { "database": "PubMed", "id": "28806945", "url": "https://glygen.org/publication/PubMed/28806945" }, { "database": "PubMed", "id": "28808297", "url": "https://glygen.org/publication/PubMed/28808297" }, { "database": "PubMed", "id": "28814745", "url": "https://glygen.org/publication/PubMed/28814745" }, { "database": "PubMed", "id": "28825630", "url": "https://glygen.org/publication/PubMed/28825630" }, { "database": "PubMed", "id": "28833338", "url": "https://glygen.org/publication/PubMed/28833338" }, { "database": "PubMed", "id": "28857517", "url": "https://glygen.org/publication/PubMed/28857517" }, { "database": "PubMed", "id": "28871105", "url": "https://glygen.org/publication/PubMed/28871105" }, { "database": "PubMed", "id": "28881576", "url": "https://glygen.org/publication/PubMed/28881576" }, { "database": "PubMed", "id": "28881794", "url": "https://glygen.org/publication/PubMed/28881794" }, { "database": "PubMed", "id": "28881811", "url": "https://glygen.org/publication/PubMed/28881811" }, { "database": "PubMed", "id": "28883547", "url": "https://glygen.org/publication/PubMed/28883547" }, { "database": "PubMed", "id": "28903364", "url": "https://glygen.org/publication/PubMed/28903364" }, { "database": "PubMed", "id": "28903425", "url": "https://glygen.org/publication/PubMed/28903425" }, { "database": "PubMed", "id": "28914370", "url": "https://glygen.org/publication/PubMed/28914370" }, { "database": "PubMed", "id": "28915595", "url": "https://glygen.org/publication/PubMed/28915595" }, { "database": "PubMed", "id": "28915623", "url": "https://glygen.org/publication/PubMed/28915623" }, { "database": "PubMed", "id": "28916818", "url": "https://glygen.org/publication/PubMed/28916818" }, { "database": "PubMed", "id": "28938574", "url": "https://glygen.org/publication/PubMed/28938574" }, { "database": "PubMed", "id": "28943275", "url": "https://glygen.org/publication/PubMed/28943275" }, { "database": "PubMed", "id": "28955927", "url": "https://glygen.org/publication/PubMed/28955927" }, { "database": "PubMed", "id": "28960945", "url": "https://glygen.org/publication/PubMed/28960945" }, { "database": "PubMed", "id": "28962326", "url": "https://glygen.org/publication/PubMed/28962326" }, { "database": "PubMed", "id": "28967905", "url": "https://glygen.org/publication/PubMed/28967905" }, { "database": "PubMed", "id": "28968999", "url": "https://glygen.org/publication/PubMed/28968999" }, { "database": "PubMed", "id": "28969041", "url": "https://glygen.org/publication/PubMed/28969041" }, { "database": "PubMed", "id": "28972559", "url": "https://glygen.org/publication/PubMed/28972559" }, { "database": "PubMed", "id": "28976590", "url": "https://glygen.org/publication/PubMed/28976590" }, { "database": "PubMed", "id": "28977846", "url": "https://glygen.org/publication/PubMed/28977846" }, { "database": "PubMed", "id": "28978070", "url": "https://glygen.org/publication/PubMed/28978070" }, { "database": "PubMed", "id": "28982149", "url": "https://glygen.org/publication/PubMed/28982149" }, { "database": "PubMed", "id": "28986255", "url": "https://glygen.org/publication/PubMed/28986255" }, { "database": "PubMed", "id": "28987868", "url": "https://glygen.org/publication/PubMed/28987868" }, { "database": "PubMed", "id": "28993697", "url": "https://glygen.org/publication/PubMed/28993697" }, { "database": "PubMed", "id": "29017516", "url": "https://glygen.org/publication/PubMed/29017516" }, { "database": "PubMed", "id": "29017592", "url": "https://glygen.org/publication/PubMed/29017592" }, { "database": "PubMed", "id": "29038421", "url": "https://glygen.org/publication/PubMed/29038421" }, { "database": "PubMed", "id": "29039440", "url": "https://glygen.org/publication/PubMed/29039440" }, { "database": "PubMed", "id": "29044520", "url": "https://glygen.org/publication/PubMed/29044520" }, { "database": "PubMed", "id": "29050229", "url": "https://glygen.org/publication/PubMed/29050229" }, { "database": "PubMed", "id": "29071793", "url": "https://glygen.org/publication/PubMed/29071793" }, { "database": "PubMed", "id": "29077243", "url": "https://glygen.org/publication/PubMed/29077243" }, { "database": "PubMed", "id": "29078297", "url": "https://glygen.org/publication/PubMed/29078297" }, { "database": "PubMed", "id": "29085455", "url": "https://glygen.org/publication/PubMed/29085455" }, { "database": "PubMed", "id": "29088844", "url": "https://glygen.org/publication/PubMed/29088844" }, { "database": "PubMed", "id": "29088849", "url": "https://glygen.org/publication/PubMed/29088849" }, { "database": "PubMed", "id": "29090098", "url": "https://glygen.org/publication/PubMed/29090098" }, { "database": "PubMed", "id": "29097657", "url": "https://glygen.org/publication/PubMed/29097657" }, { "database": "PubMed", "id": "29099866", "url": "https://glygen.org/publication/PubMed/29099866" }, { "database": "PubMed", "id": "29104511", "url": "https://glygen.org/publication/PubMed/29104511" }, { "database": "PubMed", "id": "29113242", "url": "https://glygen.org/publication/PubMed/29113242" }, { "database": "PubMed", "id": "29113312", "url": "https://glygen.org/publication/PubMed/29113312" }, { "database": "PubMed", "id": "29114068", "url": "https://glygen.org/publication/PubMed/29114068" }, { "database": "PubMed", "id": "29116180", "url": "https://glygen.org/publication/PubMed/29116180" }, { "database": "PubMed", "id": "29134198", "url": "https://glygen.org/publication/PubMed/29134198" }, { "database": "PubMed", "id": "29137265", "url": "https://glygen.org/publication/PubMed/29137265" }, { "database": "PubMed", "id": "29137317", "url": "https://glygen.org/publication/PubMed/29137317" }, { "database": "PubMed", "id": "29147235", "url": "https://glygen.org/publication/PubMed/29147235" }, { "database": "PubMed", "id": "29150437", "url": "https://glygen.org/publication/PubMed/29150437" }, { "database": "PubMed", "id": "29152059", "url": "https://glygen.org/publication/PubMed/29152059" }, { "database": "PubMed", "id": "29152112", "url": "https://glygen.org/publication/PubMed/29152112" }, { "database": "PubMed", "id": "29152142", "url": "https://glygen.org/publication/PubMed/29152142" }, { "database": "PubMed", "id": "29156676", "url": "https://glygen.org/publication/PubMed/29156676" }, { "database": "PubMed", "id": "29156708", "url": "https://glygen.org/publication/PubMed/29156708" }, { "database": "PubMed", "id": "29158883", "url": "https://glygen.org/publication/PubMed/29158883" }, { "database": "PubMed", "id": "29161765", "url": "https://glygen.org/publication/PubMed/29161765" }, { "database": "PubMed", "id": "29186909", "url": "https://glygen.org/publication/PubMed/29186909" }, { "database": "PubMed", "id": "29190895", "url": "https://glygen.org/publication/PubMed/29190895" }, { "database": "PubMed", "id": "29190940", "url": "https://glygen.org/publication/PubMed/29190940" }, { "database": "PubMed", "id": "29193093", "url": "https://glygen.org/publication/PubMed/29193093" }, { "database": "PubMed", "id": "29193730", "url": "https://glygen.org/publication/PubMed/29193730" }, { "database": "PubMed", "id": "29193784", "url": "https://glygen.org/publication/PubMed/29193784" }, { "database": "PubMed", "id": "29212252", "url": "https://glygen.org/publication/PubMed/29212252" }, { "database": "PubMed", "id": "29213214", "url": "https://glygen.org/publication/PubMed/29213214" }, { "database": "PubMed", "id": "29221131", "url": "https://glygen.org/publication/PubMed/29221131" }, { "database": "PubMed", "id": "29221176", "url": "https://glygen.org/publication/PubMed/29221176" }, { "database": "PubMed", "id": "29228673", "url": "https://glygen.org/publication/PubMed/29228673" }, { "database": "PubMed", "id": "29228741", "url": "https://glygen.org/publication/PubMed/29228741" }, { "database": "PubMed", "id": "29251327", "url": "https://glygen.org/publication/PubMed/29251327" }, { "database": "PubMed", "id": "29254199", "url": "https://glygen.org/publication/PubMed/29254199" }, { "database": "PubMed", "id": "29254208", "url": "https://glygen.org/publication/PubMed/29254208" }, { "database": "PubMed", "id": "29257275", "url": "https://glygen.org/publication/PubMed/29257275" }, { "database": "PubMed", "id": "29257319", "url": "https://glygen.org/publication/PubMed/29257319" }, { "database": "PubMed", "id": "29262536", "url": "https://glygen.org/publication/PubMed/29262536" }, { "database": "PubMed", "id": "29262576", "url": "https://glygen.org/publication/PubMed/29262576" }, { "database": "PubMed", "id": "29266303", "url": "https://glygen.org/publication/PubMed/29266303" }, { "database": "PubMed", "id": "29269867", "url": "https://glygen.org/publication/PubMed/29269867" }, { "database": "PubMed", "id": "29278364", "url": "https://glygen.org/publication/PubMed/29278364" }, { "database": "PubMed", "id": "29282077", "url": "https://glygen.org/publication/PubMed/29282077" }, { "database": "PubMed", "id": "29285315", "url": "https://glygen.org/publication/PubMed/29285315" }, { "database": "PubMed", "id": "29286216", "url": "https://glygen.org/publication/PubMed/29286216" }, { "database": "PubMed", "id": "29292863", "url": "https://glygen.org/publication/PubMed/29292863" }, { "database": "PubMed", "id": "29296215", "url": "https://glygen.org/publication/PubMed/29296215" }, { "database": "PubMed", "id": "29310608", "url": "https://glygen.org/publication/PubMed/29310608" }, { "database": "PubMed", "id": "29311919", "url": "https://glygen.org/publication/PubMed/29311919" }, { "database": "PubMed", "id": "29314656", "url": "https://glygen.org/publication/PubMed/29314656" }, { "database": "PubMed", "id": "29331082", "url": "https://glygen.org/publication/PubMed/29331082" }, { "database": "PubMed", "id": "29335246", "url": "https://glygen.org/publication/PubMed/29335246" }, { "database": "PubMed", "id": "29341150", "url": "https://glygen.org/publication/PubMed/29341150" }, { "database": "PubMed", "id": "29348846", "url": "https://glygen.org/publication/PubMed/29348846" }, { "database": "PubMed", "id": "29354058", "url": "https://glygen.org/publication/PubMed/29354058" }, { "database": "PubMed", "id": "29355935", "url": "https://glygen.org/publication/PubMed/29355935" }, { "database": "PubMed", "id": "29357370", "url": "https://glygen.org/publication/PubMed/29357370" }, { "database": "PubMed", "id": "29361539", "url": "https://glygen.org/publication/PubMed/29361539" }, { "database": "PubMed", "id": "29363568", "url": "https://glygen.org/publication/PubMed/29363568" }, { "database": "PubMed", "id": "29374705", "url": "https://glygen.org/publication/PubMed/29374705" }, { "database": "PubMed", "id": "29375377", "url": "https://glygen.org/publication/PubMed/29375377" }, { "database": "PubMed", "id": "29377936", "url": "https://glygen.org/publication/PubMed/29377936" }, { "database": "PubMed", "id": "29386091", "url": "https://glygen.org/publication/PubMed/29386091" }, { "database": "PubMed", "id": "29386585", "url": "https://glygen.org/publication/PubMed/29386585" }, { "database": "PubMed", "id": "29393871", "url": "https://glygen.org/publication/PubMed/29393871" }, { "database": "PubMed", "id": "29396506", "url": "https://glygen.org/publication/PubMed/29396506" }, { "database": "PubMed", "id": "29419736", "url": "https://glygen.org/publication/PubMed/29419736" }, { "database": "PubMed", "id": "29423104", "url": "https://glygen.org/publication/PubMed/29423104" }, { "database": "PubMed", "id": "29423114", "url": "https://glygen.org/publication/PubMed/29423114" }, { "database": "PubMed", "id": "29423932", "url": "https://glygen.org/publication/PubMed/29423932" }, { "database": "PubMed", "id": "29426295", "url": "https://glygen.org/publication/PubMed/29426295" }, { "database": "PubMed", "id": "29426928", "url": "https://glygen.org/publication/PubMed/29426928" }, { "database": "PubMed", "id": "29434218", "url": "https://glygen.org/publication/PubMed/29434218" }, { "database": "PubMed", "id": "29434241", "url": "https://glygen.org/publication/PubMed/29434241" }, { "database": "PubMed", "id": "29434604", "url": "https://glygen.org/publication/PubMed/29434604" }, { "database": "PubMed", "id": "29434714", "url": "https://glygen.org/publication/PubMed/29434714" }, { "database": "PubMed", "id": "29434840", "url": "https://glygen.org/publication/PubMed/29434840" }, { "database": "PubMed", "id": "29435164", "url": "https://glygen.org/publication/PubMed/29435164" }, { "database": "PubMed", "id": "29440989", "url": "https://glygen.org/publication/PubMed/29440989" }, { "database": "PubMed", "id": "29459737", "url": "https://glygen.org/publication/PubMed/29459737" }, { "database": "PubMed", "id": "29462183", "url": "https://glygen.org/publication/PubMed/29462183" }, { "database": "PubMed", "id": "29463565", "url": "https://glygen.org/publication/PubMed/29463565" }, { "database": "PubMed", "id": "29463831", "url": "https://glygen.org/publication/PubMed/29463831" }, { "database": "PubMed", "id": "29470540", "url": "https://glygen.org/publication/PubMed/29470540" }, { "database": "PubMed", "id": "29471001", "url": "https://glygen.org/publication/PubMed/29471001" }, { "database": "PubMed", "id": "29475988", "url": "https://glygen.org/publication/PubMed/29475988" }, { "database": "PubMed", "id": "29476223", "url": "https://glygen.org/publication/PubMed/29476223" }, { "database": "PubMed", "id": "29482651", "url": "https://glygen.org/publication/PubMed/29482651" }, { "database": "PubMed", "id": "29484131", "url": "https://glygen.org/publication/PubMed/29484131" }, { "database": "PubMed", "id": "29497056", "url": "https://glygen.org/publication/PubMed/29497056" }, { "database": "PubMed", "id": "29502044", "url": "https://glygen.org/publication/PubMed/29502044" }, { "database": "PubMed", "id": "29506489", "url": "https://glygen.org/publication/PubMed/29506489" }, { "database": "PubMed", "id": "29507656", "url": "https://glygen.org/publication/PubMed/29507656" }, { "database": "PubMed", "id": "29507660", "url": "https://glygen.org/publication/PubMed/29507660" }, { "database": "PubMed", "id": "29510720", "url": "https://glygen.org/publication/PubMed/29510720" }, { "database": "PubMed", "id": "29514603", "url": "https://glygen.org/publication/PubMed/29514603" }, { "database": "PubMed", "id": "29515111", "url": "https://glygen.org/publication/PubMed/29515111" }, { "database": "PubMed", "id": "29523594", "url": "https://glygen.org/publication/PubMed/29523594" }, { "database": "PubMed", "id": "29523748", "url": "https://glygen.org/publication/PubMed/29523748" }, { "database": "PubMed", "id": "29524195", "url": "https://glygen.org/publication/PubMed/29524195" }, { "database": "PubMed", "id": "29524296", "url": "https://glygen.org/publication/PubMed/29524296" }, { "database": "PubMed", "id": "29533017", "url": "https://glygen.org/publication/PubMed/29533017" }, { "database": "PubMed", "id": "29535821", "url": "https://glygen.org/publication/PubMed/29535821" }, { "database": "PubMed", "id": "29540196", "url": "https://glygen.org/publication/PubMed/29540196" }, { "database": "PubMed", "id": "29540539", "url": "https://glygen.org/publication/PubMed/29540539" }, { "database": "PubMed", "id": "29549527", "url": "https://glygen.org/publication/PubMed/29549527" }, { "database": "PubMed", "id": "29552308", "url": "https://glygen.org/publication/PubMed/29552308" }, { "database": "PubMed", "id": "29560097", "url": "https://glygen.org/publication/PubMed/29560097" }, { "database": "PubMed", "id": "29563926", "url": "https://glygen.org/publication/PubMed/29563926" }, { "database": "PubMed", "id": "29569795", "url": "https://glygen.org/publication/PubMed/29569795" }, { "database": "PubMed", "id": "29570671", "url": "https://glygen.org/publication/PubMed/29570671" }, { "database": "PubMed", "id": "29572181", "url": "https://glygen.org/publication/PubMed/29572181" }, { "database": "PubMed", "id": "29581766", "url": "https://glygen.org/publication/PubMed/29581766" }, { "database": "PubMed", "id": "29628889", "url": "https://glygen.org/publication/PubMed/29628889" }, { "database": "PubMed", "id": "29632185", "url": "https://glygen.org/publication/PubMed/29632185" }, { "database": "PubMed", "id": "29642855", "url": "https://glygen.org/publication/PubMed/29642855" }, { "database": "PubMed", "id": "29652795", "url": "https://glygen.org/publication/PubMed/29652795" }, { "database": "PubMed", "id": "29658179", "url": "https://glygen.org/publication/PubMed/29658179" }, { "database": "PubMed", "id": "29662626", "url": "https://glygen.org/publication/PubMed/29662626" }, { "database": "PubMed", "id": "29667783", "url": "https://glygen.org/publication/PubMed/29667783" }, { "database": "PubMed", "id": "29670684", "url": "https://glygen.org/publication/PubMed/29670684" }, { "database": "PubMed", "id": "29674727", "url": "https://glygen.org/publication/PubMed/29674727" }, { "database": "PubMed", "id": "29692710", "url": "https://glygen.org/publication/PubMed/29692710" }, { "database": "PubMed", "id": "29695704", "url": "https://glygen.org/publication/PubMed/29695704" }, { "database": "PubMed", "id": "29703716", "url": "https://glygen.org/publication/PubMed/29703716" }, { "database": "PubMed", "id": "29706631", "url": "https://glygen.org/publication/PubMed/29706631" }, { "database": "PubMed", "id": "29707142", "url": "https://glygen.org/publication/PubMed/29707142" }, { "database": "PubMed", "id": "29716528", "url": "https://glygen.org/publication/PubMed/29716528" }, { "database": "PubMed", "id": "29722156", "url": "https://glygen.org/publication/PubMed/29722156" }, { "database": "PubMed", "id": "29723154", "url": "https://glygen.org/publication/PubMed/29723154" }, { "database": "PubMed", "id": "29725263", "url": "https://glygen.org/publication/PubMed/29725263" }, { "database": "PubMed", "id": "29728125", "url": "https://glygen.org/publication/PubMed/29728125" }, { "database": "PubMed", "id": "29728594", "url": "https://glygen.org/publication/PubMed/29728594" }, { "database": "PubMed", "id": "29737572", "url": "https://glygen.org/publication/PubMed/29737572" }, { "database": "PubMed", "id": "29743977", "url": "https://glygen.org/publication/PubMed/29743977" }, { "database": "PubMed", "id": "29749377", "url": "https://glygen.org/publication/PubMed/29749377" }, { "database": "PubMed", "id": "29749659", "url": "https://glygen.org/publication/PubMed/29749659" }, { "database": "PubMed", "id": "29754406", "url": "https://glygen.org/publication/PubMed/29754406" }, { "database": "PubMed", "id": "29755672", "url": "https://glygen.org/publication/PubMed/29755672" }, { "database": "PubMed", "id": "29783631", "url": "https://glygen.org/publication/PubMed/29783631" }, { "database": "PubMed", "id": "29783666", "url": "https://glygen.org/publication/PubMed/29783666" }, { "database": "PubMed", "id": "29786107", "url": "https://glygen.org/publication/PubMed/29786107" }, { "database": "PubMed", "id": "29786666", "url": "https://glygen.org/publication/PubMed/29786666" }, { "database": "PubMed", "id": "29795279", "url": "https://glygen.org/publication/PubMed/29795279" }, { "database": "PubMed", "id": "29796120", "url": "https://glygen.org/publication/PubMed/29796120" }, { "database": "PubMed", "id": "29799481", "url": "https://glygen.org/publication/PubMed/29799481" }, { "database": "PubMed", "id": "29799846", "url": "https://glygen.org/publication/PubMed/29799846" }, { "database": "PubMed", "id": "29805559", "url": "https://glygen.org/publication/PubMed/29805559" }, { "database": "PubMed", "id": "29808317", "url": "https://glygen.org/publication/PubMed/29808317" }, { "database": "PubMed", "id": "29843216", "url": "https://glygen.org/publication/PubMed/29843216" }, { "database": "PubMed", "id": "29845225", "url": "https://glygen.org/publication/PubMed/29845225" }, { "database": "PubMed", "id": "29845289", "url": "https://glygen.org/publication/PubMed/29845289" }, { "database": "PubMed", "id": "29851245", "url": "https://glygen.org/publication/PubMed/29851245" }, { "database": "PubMed", "id": "29861842", "url": "https://glygen.org/publication/PubMed/29861842" }, { "database": "PubMed", "id": "29867200", "url": "https://glygen.org/publication/PubMed/29867200" }, { "database": "PubMed", "id": "29872222", "url": "https://glygen.org/publication/PubMed/29872222" }, { "database": "PubMed", "id": "29882124", "url": "https://glygen.org/publication/PubMed/29882124" }, { "database": "PubMed", "id": "29883748", "url": "https://glygen.org/publication/PubMed/29883748" }, { "database": "PubMed", "id": "29899706", "url": "https://glygen.org/publication/PubMed/29899706" }, { "database": "PubMed", "id": "29908183", "url": "https://glygen.org/publication/PubMed/29908183" }, { "database": "PubMed", "id": "29921293", "url": "https://glygen.org/publication/PubMed/29921293" }, { "database": "PubMed", "id": "29922071", "url": "https://glygen.org/publication/PubMed/29922071" }, { "database": "PubMed", "id": "29928344", "url": "https://glygen.org/publication/PubMed/29928344" }, { "database": "PubMed", "id": "29930759", "url": "https://glygen.org/publication/PubMed/29930759" }, { "database": "PubMed", "id": "29930760", "url": "https://glygen.org/publication/PubMed/29930760" }, { "database": "PubMed", "id": "29932504", "url": "https://glygen.org/publication/PubMed/29932504" }, { "database": "PubMed", "id": "29934505", "url": "https://glygen.org/publication/PubMed/29934505" }, { "database": "PubMed", "id": "29937924", "url": "https://glygen.org/publication/PubMed/29937924" }, { "database": "PubMed", "id": "29941886", "url": "https://glygen.org/publication/PubMed/29941886" }, { "database": "PubMed", "id": "29947926", "url": "https://glygen.org/publication/PubMed/29947926" }, { "database": "PubMed", "id": "29955247", "url": "https://glygen.org/publication/PubMed/29955247" }, { "database": "PubMed", "id": "29956797", "url": "https://glygen.org/publication/PubMed/29956797" }, { "database": "PubMed", "id": "29956803", "url": "https://glygen.org/publication/PubMed/29956803" }, { "database": "PubMed", "id": "29970878", "url": "https://glygen.org/publication/PubMed/29970878" }, { "database": "PubMed", "id": "29973325", "url": "https://glygen.org/publication/PubMed/29973325" }, { "database": "PubMed", "id": "29973512", "url": "https://glygen.org/publication/PubMed/29973512" }, { "database": "PubMed", "id": "29973668", "url": "https://glygen.org/publication/PubMed/29973668" }, { "database": "PubMed", "id": "29980193", "url": "https://glygen.org/publication/PubMed/29980193" }, { "database": "PubMed", "id": "29985963", "url": "https://glygen.org/publication/PubMed/29985963" }, { "database": "PubMed", "id": "29988358", "url": "https://glygen.org/publication/PubMed/29988358" }, { "database": "PubMed", "id": "29992318", "url": "https://glygen.org/publication/PubMed/29992318" }, { "database": "PubMed", "id": "29992949", "url": "https://glygen.org/publication/PubMed/29992949" }, { "database": "PubMed", "id": "30003065", "url": "https://glygen.org/publication/PubMed/30003065" }, { "database": "PubMed", "id": "30012111", "url": "https://glygen.org/publication/PubMed/30012111" }, { "database": "PubMed", "id": "30015159", "url": "https://glygen.org/publication/PubMed/30015159" }, { "database": "PubMed", "id": "30021163", "url": "https://glygen.org/publication/PubMed/30021163" }, { "database": "PubMed", "id": "30021848", "url": "https://glygen.org/publication/PubMed/30021848" }, { "database": "PubMed", "id": "30034631", "url": "https://glygen.org/publication/PubMed/30034631" }, { "database": "PubMed", "id": "30048489", "url": "https://glygen.org/publication/PubMed/30048489" }, { "database": "PubMed", "id": "30053873", "url": "https://glygen.org/publication/PubMed/30053873" }, { "database": "PubMed", "id": "30057674", "url": "https://glygen.org/publication/PubMed/30057674" }, { "database": "PubMed", "id": "30063851", "url": "https://glygen.org/publication/PubMed/30063851" }, { "database": "PubMed", "id": "30089483", "url": "https://glygen.org/publication/PubMed/30089483" }, { "database": "PubMed", "id": "30092222", "url": "https://glygen.org/publication/PubMed/30092222" }, { "database": "PubMed", "id": "30097593", "url": "https://glygen.org/publication/PubMed/30097593" }, { "database": "PubMed", "id": "30098579", "url": "https://glygen.org/publication/PubMed/30098579" }, { "database": "PubMed", "id": "30106121", "url": "https://glygen.org/publication/PubMed/30106121" }, { "database": "PubMed", "id": "30107094", "url": "https://glygen.org/publication/PubMed/30107094" }, { "database": "PubMed", "id": "30112032", "url": "https://glygen.org/publication/PubMed/30112032" }, { "database": "PubMed", "id": "30117681", "url": "https://glygen.org/publication/PubMed/30117681" }, { "database": "PubMed", "id": "30118842", "url": "https://glygen.org/publication/PubMed/30118842" }, { "database": "PubMed", "id": "30123074", "url": "https://glygen.org/publication/PubMed/30123074" }, { "database": "PubMed", "id": "30128000", "url": "https://glygen.org/publication/PubMed/30128000" }, { "database": "PubMed", "id": "30131483", "url": "https://glygen.org/publication/PubMed/30131483" }, { "database": "PubMed", "id": "30138337", "url": "https://glygen.org/publication/PubMed/30138337" }, { "database": "PubMed", "id": "30148873", "url": "https://glygen.org/publication/PubMed/30148873" }, { "database": "PubMed", "id": "30148884", "url": "https://glygen.org/publication/PubMed/30148884" }, { "database": "PubMed", "id": "30154433", "url": "https://glygen.org/publication/PubMed/30154433" }, { "database": "PubMed", "id": "30154548", "url": "https://glygen.org/publication/PubMed/30154548" }, { "database": "PubMed", "id": "30181250", "url": "https://glygen.org/publication/PubMed/30181250" }, { "database": "PubMed", "id": "30195794", "url": "https://glygen.org/publication/PubMed/30195794" }, { "database": "PubMed", "id": "30205513", "url": "https://glygen.org/publication/PubMed/30205513" }, { "database": "PubMed", "id": "30206294", "url": "https://glygen.org/publication/PubMed/30206294" }, { "database": "PubMed", "id": "30208604", "url": "https://glygen.org/publication/PubMed/30208604" }, { "database": "PubMed", "id": "30213826", "url": "https://glygen.org/publication/PubMed/30213826" }, { "database": "PubMed", "id": "30226594", "url": "https://glygen.org/publication/PubMed/30226594" }, { "database": "PubMed", "id": "30230030", "url": "https://glygen.org/publication/PubMed/30230030" }, { "database": "PubMed", "id": "30242159", "url": "https://glygen.org/publication/PubMed/30242159" }, { "database": "PubMed", "id": "30245957", "url": "https://glygen.org/publication/PubMed/30245957" }, { "database": "PubMed", "id": "30249058", "url": "https://glygen.org/publication/PubMed/30249058" }, { "database": "PubMed", "id": "30250490", "url": "https://glygen.org/publication/PubMed/30250490" }, { "database": "PubMed", "id": "30258898", "url": "https://glygen.org/publication/PubMed/30258898" }, { "database": "PubMed", "id": "30258945", "url": "https://glygen.org/publication/PubMed/30258945" }, { "database": "PubMed", "id": "30266989", "url": "https://glygen.org/publication/PubMed/30266989" }, { "database": "PubMed", "id": "30268125", "url": "https://glygen.org/publication/PubMed/30268125" }, { "database": "PubMed", "id": "30271951", "url": "https://glygen.org/publication/PubMed/30271951" }, { "database": "PubMed", "id": "30272389", "url": "https://glygen.org/publication/PubMed/30272389" }, { "database": "PubMed", "id": "30274346", "url": "https://glygen.org/publication/PubMed/30274346" }, { "database": "PubMed", "id": "30282964", "url": "https://glygen.org/publication/PubMed/30282964" }, { "database": "PubMed", "id": "30285764", "url": "https://glygen.org/publication/PubMed/30285764" }, { "database": "PubMed", "id": "30305055", "url": "https://glygen.org/publication/PubMed/30305055" }, { "database": "PubMed", "id": "30316146", "url": "https://glygen.org/publication/PubMed/30316146" }, { "database": "PubMed", "id": "30318853", "url": "https://glygen.org/publication/PubMed/30318853" }, { "database": "PubMed", "id": "30337563", "url": "https://glygen.org/publication/PubMed/30337563" }, { "database": "PubMed", "id": "30337688", "url": "https://glygen.org/publication/PubMed/30337688" }, { "database": "PubMed", "id": "30343126", "url": "https://glygen.org/publication/PubMed/30343126" }, { "database": "PubMed", "id": "30353642", "url": "https://glygen.org/publication/PubMed/30353642" }, { "database": "PubMed", "id": "30353649", "url": "https://glygen.org/publication/PubMed/30353649" }, { "database": "PubMed", "id": "30357520", "url": "https://glygen.org/publication/PubMed/30357520" }, { "database": "PubMed", "id": "30359321", "url": "https://glygen.org/publication/PubMed/30359321" }, { "database": "PubMed", "id": "30363990", "url": "https://glygen.org/publication/PubMed/30363990" }, { "database": "PubMed", "id": "30367624", "url": "https://glygen.org/publication/PubMed/30367624" }, { "database": "PubMed", "id": "30374127", "url": "https://glygen.org/publication/PubMed/30374127" }, { "database": "PubMed", "id": "30377337", "url": "https://glygen.org/publication/PubMed/30377337" }, { "database": "PubMed", "id": "30385871", "url": "https://glygen.org/publication/PubMed/30385871" }, { "database": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" }, { "database": "PubMed", "id": "30405592", "url": "https://glygen.org/publication/PubMed/30405592" }, { "database": "PubMed", "id": "30410328", "url": "https://glygen.org/publication/PubMed/30410328" }, { "database": "PubMed", "id": "30413706", "url": "https://glygen.org/publication/PubMed/30413706" }, { "database": "PubMed", "id": "30413753", "url": "https://glygen.org/publication/PubMed/30413753" }, { "database": "PubMed", "id": "30428057", "url": "https://glygen.org/publication/PubMed/30428057" }, { "database": "PubMed", "id": "30429793", "url": "https://glygen.org/publication/PubMed/30429793" }, { "database": "PubMed", "id": "30455992", "url": "https://glygen.org/publication/PubMed/30455992" }, { "database": "PubMed", "id": "30456390", "url": "https://glygen.org/publication/PubMed/30456390" }, { "database": "PubMed", "id": "30461193", "url": "https://glygen.org/publication/PubMed/30461193" }, { "database": "PubMed", "id": "30464511", "url": "https://glygen.org/publication/PubMed/30464511" }, { "database": "PubMed", "id": "30470263", "url": "https://glygen.org/publication/PubMed/30470263" }, { "database": "PubMed", "id": "30478302", "url": "https://glygen.org/publication/PubMed/30478302" }, { "database": "PubMed", "id": "30488766", "url": "https://glygen.org/publication/PubMed/30488766" }, { "database": "PubMed", "id": "30500680", "url": "https://glygen.org/publication/PubMed/30500680" }, { "database": "PubMed", "id": "30510622", "url": "https://glygen.org/publication/PubMed/30510622" }, { "database": "PubMed", "id": "30510777", "url": "https://glygen.org/publication/PubMed/30510777" }, { "database": "PubMed", "id": "30513611", "url": "https://glygen.org/publication/PubMed/30513611" }, { "database": "PubMed", "id": "30534418", "url": "https://glygen.org/publication/PubMed/30534418" }, { "database": "PubMed", "id": "30545129", "url": "https://glygen.org/publication/PubMed/30545129" }, { "database": "PubMed", "id": "30546425", "url": "https://glygen.org/publication/PubMed/30546425" }, { "database": "PubMed", "id": "30563079", "url": "https://glygen.org/publication/PubMed/30563079" }, { "database": "PubMed", "id": "30564555", "url": "https://glygen.org/publication/PubMed/30564555" }, { "database": "PubMed", "id": "30571167", "url": "https://glygen.org/publication/PubMed/30571167" }, { "database": "PubMed", "id": "30575721", "url": "https://glygen.org/publication/PubMed/30575721" }, { "database": "PubMed", "id": "30584254", "url": "https://glygen.org/publication/PubMed/30584254" }, { "database": "PubMed", "id": "30602778", "url": "https://glygen.org/publication/PubMed/30602778" }, { "database": "PubMed", "id": "30618098", "url": "https://glygen.org/publication/PubMed/30618098" }, { "database": "PubMed", "id": "30619121", "url": "https://glygen.org/publication/PubMed/30619121" }, { "database": "PubMed", "id": "30621146", "url": "https://glygen.org/publication/PubMed/30621146" }, { "database": "PubMed", "id": "30622543", "url": "https://glygen.org/publication/PubMed/30622543" }, { "database": "PubMed", "id": "30622697", "url": "https://glygen.org/publication/PubMed/30622697" }, { "database": "PubMed", "id": "30643008", "url": "https://glygen.org/publication/PubMed/30643008" }, { "database": "PubMed", "id": "30654190", "url": "https://glygen.org/publication/PubMed/30654190" }, { "database": "PubMed", "id": "30666838", "url": "https://glygen.org/publication/PubMed/30666838" }, { "database": "PubMed", "id": "30669455", "url": "https://glygen.org/publication/PubMed/30669455" }, { "database": "PubMed", "id": "30683932", "url": "https://glygen.org/publication/PubMed/30683932" }, { "database": "PubMed", "id": "30692626", "url": "https://glygen.org/publication/PubMed/30692626" }, { "database": "PubMed", "id": "30693913", "url": "https://glygen.org/publication/PubMed/30693913" }, { "database": "PubMed", "id": "30695053", "url": "https://glygen.org/publication/PubMed/30695053" }, { "database": "PubMed", "id": "30700111", "url": "https://glygen.org/publication/PubMed/30700111" }, { "database": "PubMed", "id": "30700740", "url": "https://glygen.org/publication/PubMed/30700740" }, { "database": "PubMed", "id": "30709770", "url": "https://glygen.org/publication/PubMed/30709770" }, { "database": "PubMed", "id": "30733856", "url": "https://glygen.org/publication/PubMed/30733856" }, { "database": "PubMed", "id": "30737086", "url": "https://glygen.org/publication/PubMed/30737086" }, { "database": "PubMed", "id": "30745576", "url": "https://glygen.org/publication/PubMed/30745576" }, { "database": "PubMed", "id": "30754629", "url": "https://glygen.org/publication/PubMed/30754629" }, { "database": "PubMed", "id": "30755508", "url": "https://glygen.org/publication/PubMed/30755508" }, { "database": "PubMed", "id": "30770562", "url": "https://glygen.org/publication/PubMed/30770562" }, { "database": "PubMed", "id": "30770776", "url": "https://glygen.org/publication/PubMed/30770776" }, { "database": "PubMed", "id": "30774778", "url": "https://glygen.org/publication/PubMed/30774778" }, { "database": "PubMed", "id": "30796242", "url": "https://glygen.org/publication/PubMed/30796242" }, { "database": "PubMed", "id": "30804434", "url": "https://glygen.org/publication/PubMed/30804434" }, { "database": "PubMed", "id": "30804795", "url": "https://glygen.org/publication/PubMed/30804795" }, { "database": "PubMed", "id": "30805303", "url": "https://glygen.org/publication/PubMed/30805303" }, { "database": "PubMed", "id": "30813295", "url": "https://glygen.org/publication/PubMed/30813295" }, { "database": "PubMed", "id": "30813597", "url": "https://glygen.org/publication/PubMed/30813597" }, { "database": "PubMed", "id": "30816192", "url": "https://glygen.org/publication/PubMed/30816192" }, { "database": "PubMed", "id": "30816208", "url": "https://glygen.org/publication/PubMed/30816208" }, { "database": "PubMed", "id": "30824683", "url": "https://glygen.org/publication/PubMed/30824683" }, { "database": "PubMed", "id": "30839155", "url": "https://glygen.org/publication/PubMed/30839155" }, { "database": "PubMed", "id": "30841855", "url": "https://glygen.org/publication/PubMed/30841855" }, { "database": "PubMed", "id": "30845764", "url": "https://glygen.org/publication/PubMed/30845764" }, { "database": "PubMed", "id": "30845932", "url": "https://glygen.org/publication/PubMed/30845932" }, { "database": "PubMed", "id": "30850948", "url": "https://glygen.org/publication/PubMed/30850948" }, { "database": "PubMed", "id": "30860936", "url": "https://glygen.org/publication/PubMed/30860936" }, { "database": "PubMed", "id": "30862883", "url": "https://glygen.org/publication/PubMed/30862883" }, { "database": "PubMed", "id": "30872638", "url": "https://glygen.org/publication/PubMed/30872638" }, { "database": "PubMed", "id": "30887599", "url": "https://glygen.org/publication/PubMed/30887599" }, { "database": "PubMed", "id": "30897948", "url": "https://glygen.org/publication/PubMed/30897948" }, { "database": "PubMed", "id": "30902093", "url": "https://glygen.org/publication/PubMed/30902093" }, { "database": "PubMed", "id": "30906373", "url": "https://glygen.org/publication/PubMed/30906373" }, { "database": "PubMed", "id": "30909453", "url": "https://glygen.org/publication/PubMed/30909453" }, { "database": "PubMed", "id": "30944027", "url": "https://glygen.org/publication/PubMed/30944027" }, { "database": "PubMed", "id": "30944303", "url": "https://glygen.org/publication/PubMed/30944303" }, { "database": "PubMed", "id": "30947381", "url": "https://glygen.org/publication/PubMed/30947381" }, { "database": "PubMed", "id": "30952838", "url": "https://glygen.org/publication/PubMed/30952838" }, { "database": "PubMed", "id": "30952843", "url": "https://glygen.org/publication/PubMed/30952843" }, { "database": "PubMed", "id": "30959964", "url": "https://glygen.org/publication/PubMed/30959964" }, { "database": "PubMed", "id": "30962488", "url": "https://glygen.org/publication/PubMed/30962488" }, { "database": "PubMed", "id": "30969964", "url": "https://glygen.org/publication/PubMed/30969964" }, { "database": "PubMed", "id": "30971932", "url": "https://glygen.org/publication/PubMed/30971932" }, { "database": "PubMed", "id": "30975543", "url": "https://glygen.org/publication/PubMed/30975543" }, { "database": "PubMed", "id": "30979953", "url": "https://glygen.org/publication/PubMed/30979953" }, { "database": "PubMed", "id": "30986276", "url": "https://glygen.org/publication/PubMed/30986276" }, { "database": "PubMed", "id": "30987128", "url": "https://glygen.org/publication/PubMed/30987128" }, { "database": "PubMed", "id": "30987380", "url": "https://glygen.org/publication/PubMed/30987380" }, { "database": "PubMed", "id": "30992506", "url": "https://glygen.org/publication/PubMed/30992506" }, { "database": "PubMed", "id": "31010234", "url": "https://glygen.org/publication/PubMed/31010234" }, { "database": "PubMed", "id": "31030489", "url": "" }, { "database": "PubMed", "id": "31032225", "url": "https://glygen.org/publication/PubMed/31032225" }, { "database": "PubMed", "id": "31032363", "url": "https://glygen.org/publication/PubMed/31032363" }, { "database": "PubMed", "id": "31035633", "url": "https://glygen.org/publication/PubMed/31035633" }, { "database": "PubMed", "id": "31035650", "url": "https://glygen.org/publication/PubMed/31035650" }, { "database": "PubMed", "id": "31037139", "url": "https://glygen.org/publication/PubMed/31037139" }, { "database": "PubMed", "id": "31042473", "url": "https://glygen.org/publication/PubMed/31042473" }, { "database": "PubMed", "id": "31053703", "url": "https://glygen.org/publication/PubMed/31053703" }, { "database": "PubMed", "id": "31057403", "url": "https://glygen.org/publication/PubMed/31057403" }, { "database": "PubMed", "id": "31058093", "url": "https://glygen.org/publication/PubMed/31058093" }, { "database": "PubMed", "id": "31065010", "url": "https://glygen.org/publication/PubMed/31065010" }, { "database": "PubMed", "id": "31069012", "url": "https://glygen.org/publication/PubMed/31069012" }, { "database": "PubMed", "id": "31092879", "url": "https://glygen.org/publication/PubMed/31092879" }, { "database": "PubMed", "id": "31106005", "url": "https://glygen.org/publication/PubMed/31106005" }, { "database": "PubMed", "id": "31114228", "url": "https://glygen.org/publication/PubMed/31114228" }, { "database": "PubMed", "id": "31118667", "url": "https://glygen.org/publication/PubMed/31118667" }, { "database": "PubMed", "id": "31119047", "url": "https://glygen.org/publication/PubMed/31119047" }, { "database": "PubMed", "id": "31119584", "url": "https://glygen.org/publication/PubMed/31119584" }, { "database": "PubMed", "id": "31122311", "url": "https://glygen.org/publication/PubMed/31122311" }, { "database": "PubMed", "id": "31139021", "url": "https://glygen.org/publication/PubMed/31139021" }, { "database": "PubMed", "id": "31143097", "url": "https://glygen.org/publication/PubMed/31143097" }, { "database": "PubMed", "id": "31150511", "url": "https://glygen.org/publication/PubMed/31150511" }, { "database": "PubMed", "id": "31157169", "url": "https://glygen.org/publication/PubMed/31157169" }, { "database": "PubMed", "id": "31160483", "url": "https://glygen.org/publication/PubMed/31160483" }, { "database": "PubMed", "id": "31183073", "url": "https://glygen.org/publication/PubMed/31183073" }, { "database": "PubMed", "id": "31186741", "url": "https://glygen.org/publication/PubMed/31186741" }, { "database": "PubMed", "id": "31195734", "url": "https://glygen.org/publication/PubMed/31195734" }, { "database": "PubMed", "id": "31197106", "url": "https://glygen.org/publication/PubMed/31197106" }, { "database": "PubMed", "id": "31199048", "url": "https://glygen.org/publication/PubMed/31199048" }, { "database": "PubMed", "id": "31227006", "url": "https://glygen.org/publication/PubMed/31227006" }, { "database": "PubMed", "id": "31247000", "url": "https://glygen.org/publication/PubMed/31247000" }, { "database": "PubMed", "id": "31263479", "url": "https://glygen.org/publication/PubMed/31263479" }, { "database": "PubMed", "id": "31276504", "url": "https://glygen.org/publication/PubMed/31276504" }, { "database": "PubMed", "id": "31281490", "url": "https://glygen.org/publication/PubMed/31281490" }, { "database": "PubMed", "id": "31284427", "url": "https://glygen.org/publication/PubMed/31284427" }, { "database": "PubMed", "id": "31288897", "url": "https://glygen.org/publication/PubMed/31288897" }, { "database": "PubMed", "id": "31290289", "url": "https://glygen.org/publication/PubMed/31290289" }, { "database": "PubMed", "id": "31319869", "url": "https://glygen.org/publication/PubMed/31319869" }, { "database": "PubMed", "id": "31333726", "url": "https://glygen.org/publication/PubMed/31333726" }, { "database": "PubMed", "id": "31337843", "url": "https://glygen.org/publication/PubMed/31337843" }, { "database": "PubMed", "id": "31345230", "url": "https://glygen.org/publication/PubMed/31345230" }, { "database": "PubMed", "id": "31360736", "url": "https://glygen.org/publication/PubMed/31360736" }, { "database": "PubMed", "id": "31383875", "url": "https://glygen.org/publication/PubMed/31383875" }, { "database": "PubMed", "id": "31393061", "url": "https://glygen.org/publication/PubMed/31393061" }, { "database": "PubMed", "id": "31409554", "url": "https://glygen.org/publication/PubMed/31409554" }, { "database": "PubMed", "id": "31420605", "url": "https://glygen.org/publication/PubMed/31420605" }, { "database": "PubMed", "id": "31428587", "url": "https://glygen.org/publication/PubMed/31428587" }, { "database": "PubMed", "id": "31431660", "url": "https://glygen.org/publication/PubMed/31431660" }, { "database": "PubMed", "id": "31464372", "url": "https://glygen.org/publication/PubMed/31464372" }, { "database": "PubMed", "id": "31480645", "url": "https://glygen.org/publication/PubMed/31480645" }, { "database": "PubMed", "id": "31482977", "url": "https://glygen.org/publication/PubMed/31482977" }, { "database": "PubMed", "id": "31496729", "url": "https://glygen.org/publication/PubMed/31496729" }, { "database": "PubMed", "id": "31500366", "url": "https://glygen.org/publication/PubMed/31500366" }, { "database": "PubMed", "id": "31509054", "url": "https://glygen.org/publication/PubMed/31509054" }, { "database": "PubMed", "id": "31510045", "url": "https://glygen.org/publication/PubMed/31510045" }, { "database": "PubMed", "id": "31519182", "url": "https://glygen.org/publication/PubMed/31519182" }, { "database": "PubMed", "id": "31523184", "url": "https://glygen.org/publication/PubMed/31523184" }, { "database": "PubMed", "id": "31527082", "url": "https://glygen.org/publication/PubMed/31527082" }, { "database": "PubMed", "id": "31527632", "url": "https://glygen.org/publication/PubMed/31527632" }, { "database": "PubMed", "id": "31540244", "url": "https://glygen.org/publication/PubMed/31540244" }, { "database": "PubMed", "id": "31547231", "url": "https://glygen.org/publication/PubMed/31547231" }, { "database": "PubMed", "id": "31549311", "url": "https://glygen.org/publication/PubMed/31549311" }, { "database": "PubMed", "id": "31551414", "url": "https://glygen.org/publication/PubMed/31551414" }, { "database": "PubMed", "id": "31571328", "url": "https://glygen.org/publication/PubMed/31571328" }, { "database": "PubMed", "id": "31571914", "url": "https://glygen.org/publication/PubMed/31571914" }, { "database": "PubMed", "id": "31572671", "url": "https://glygen.org/publication/PubMed/31572671" }, { "database": "PubMed", "id": "31579406", "url": "https://glygen.org/publication/PubMed/31579406" }, { "database": "PubMed", "id": "31583053", "url": "https://glygen.org/publication/PubMed/31583053" }, { "database": "PubMed", "id": "31584065", "url": "https://glygen.org/publication/PubMed/31584065" }, { "database": "PubMed", "id": "31591437", "url": "https://glygen.org/publication/PubMed/31591437" }, { "database": "PubMed", "id": "31592121", "url": "https://glygen.org/publication/PubMed/31592121" }, { "database": "PubMed", "id": "31597121", "url": "https://glygen.org/publication/PubMed/31597121" }, { "database": "PubMed", "id": "31605257", "url": "https://glygen.org/publication/PubMed/31605257" }, { "database": "PubMed", "id": "31607750", "url": "https://glygen.org/publication/PubMed/31607750" }, { "database": "PubMed", "id": "31614723", "url": "https://glygen.org/publication/PubMed/31614723" }, { "database": "PubMed", "id": "31629677", "url": "https://glygen.org/publication/PubMed/31629677" }, { "database": "PubMed", "id": "31632477", "url": "https://glygen.org/publication/PubMed/31632477" }, { "database": "PubMed", "id": "31635212", "url": "https://glygen.org/publication/PubMed/31635212" }, { "database": "PubMed", "id": "31649511", "url": "https://glygen.org/publication/PubMed/31649511" }, { "database": "PubMed", "id": "31653015", "url": "https://glygen.org/publication/PubMed/31653015" }, { "database": "PubMed", "id": "31657882", "url": "https://glygen.org/publication/PubMed/31657882" }, { "database": "PubMed", "id": "31661137", "url": "https://glygen.org/publication/PubMed/31661137" }, { "database": "PubMed", "id": "31665911", "url": "https://glygen.org/publication/PubMed/31665911" }, { "database": "PubMed", "id": "31679138", "url": "https://glygen.org/publication/PubMed/31679138" }, { "database": "PubMed", "id": "31680960", "url": "https://glygen.org/publication/PubMed/31680960" }, { "database": "PubMed", "id": "31680961", "url": "https://glygen.org/publication/PubMed/31680961" }, { "database": "PubMed", "id": "31686763", "url": "https://glygen.org/publication/PubMed/31686763" }, { "database": "PubMed", "id": "31686909", "url": "https://glygen.org/publication/PubMed/31686909" }, { "database": "PubMed", "id": "31708904", "url": "https://glygen.org/publication/PubMed/31708904" }, { "database": "PubMed", "id": "31710966", "url": "https://glygen.org/publication/PubMed/31710966" }, { "database": "PubMed", "id": "31723205", "url": "https://glygen.org/publication/PubMed/31723205" }, { "database": "PubMed", "id": "31725811", "url": "https://glygen.org/publication/PubMed/31725811" }, { "database": "PubMed", "id": "31728130", "url": "https://glygen.org/publication/PubMed/31728130" }, { "database": "PubMed", "id": "31729456", "url": "https://glygen.org/publication/PubMed/31729456" }, { "database": "PubMed", "id": "31740700", "url": "https://glygen.org/publication/PubMed/31740700" }, { "database": "PubMed", "id": "31740942", "url": "https://glygen.org/publication/PubMed/31740942" }, { "database": "PubMed", "id": "31762815", "url": "https://glygen.org/publication/PubMed/31762815" }, { "database": "PubMed", "id": "31772226", "url": "https://glygen.org/publication/PubMed/31772226" }, { "database": "PubMed", "id": "31780930", "url": "https://glygen.org/publication/PubMed/31780930" }, { "database": "PubMed", "id": "31787905", "url": "https://glygen.org/publication/PubMed/31787905" }, { "database": "PubMed", "id": "31790465", "url": "https://glygen.org/publication/PubMed/31790465" }, { "database": "PubMed", "id": "31795454", "url": "https://glygen.org/publication/PubMed/31795454" }, { "database": "PubMed", "id": "31827405", "url": "https://glygen.org/publication/PubMed/31827405" }, { "database": "PubMed", "id": "31834925", "url": "https://glygen.org/publication/PubMed/31834925" }, { "database": "PubMed", "id": "31835877", "url": "https://glygen.org/publication/PubMed/31835877" }, { "database": "PubMed", "id": "31844089", "url": "https://glygen.org/publication/PubMed/31844089" }, { "database": "PubMed", "id": "31852504", "url": "https://glygen.org/publication/PubMed/31852504" }, { "database": "PubMed", "id": "31852899", "url": "https://glygen.org/publication/PubMed/31852899" }, { "database": "PubMed", "id": "31857650", "url": "https://glygen.org/publication/PubMed/31857650" }, { "database": "PubMed", "id": "31861050", "url": "https://glygen.org/publication/PubMed/31861050" }, { "database": "PubMed", "id": "31862959", "url": "https://glygen.org/publication/PubMed/31862959" }, { "database": "PubMed", "id": "31870092", "url": "https://glygen.org/publication/PubMed/31870092" }, { "database": "PubMed", "id": "31871542", "url": "https://glygen.org/publication/PubMed/31871542" }, { "database": "PubMed", "id": "31883527", "url": "https://glygen.org/publication/PubMed/31883527" }, { "database": "PubMed", "id": "31885701", "url": "https://glygen.org/publication/PubMed/31885701" }, { "database": "PubMed", "id": "31889900", "url": "https://glygen.org/publication/PubMed/31889900" }, { "database": "PubMed", "id": "31893310", "url": "https://glygen.org/publication/PubMed/31893310" }, { "database": "PubMed", "id": "31897228", "url": "https://glygen.org/publication/PubMed/31897228" }, { "database": "PubMed", "id": "31900384", "url": "https://glygen.org/publication/PubMed/31900384" }, { "database": "PubMed", "id": "31910234", "url": "https://glygen.org/publication/PubMed/31910234" }, { "database": "PubMed", "id": "31915509", "url": "https://glygen.org/publication/PubMed/31915509" }, { "database": "PubMed", "id": "31919413", "url": "https://glygen.org/publication/PubMed/31919413" }, { "database": "PubMed", "id": "31922234", "url": "https://glygen.org/publication/PubMed/31922234" }, { "database": "PubMed", "id": "31931846", "url": "https://glygen.org/publication/PubMed/31931846" }, { "database": "PubMed", "id": "31932581", "url": "https://glygen.org/publication/PubMed/31932581" }, { "database": "PubMed", "id": "31936857", "url": "https://glygen.org/publication/PubMed/31936857" }, { "database": "PubMed", "id": "31941116", "url": "https://glygen.org/publication/PubMed/31941116" }, { "database": "PubMed", "id": "31957155", "url": "https://glygen.org/publication/PubMed/31957155" }, { "database": "PubMed", "id": "31957179", "url": "https://glygen.org/publication/PubMed/31957179" }, { "database": "PubMed", "id": "31957323", "url": "https://glygen.org/publication/PubMed/31957323" }, { "database": "PubMed", "id": "31988347", "url": "https://glygen.org/publication/PubMed/31988347" }, { "database": "PubMed", "id": "32005797", "url": "https://glygen.org/publication/PubMed/32005797" }, { "database": "PubMed", "id": "32010815", "url": "https://glygen.org/publication/PubMed/32010815" }, { "database": "PubMed", "id": "32012648", "url": "https://glygen.org/publication/PubMed/32012648" }, { "database": "PubMed", "id": "32021440", "url": "https://glygen.org/publication/PubMed/32021440" }, { "database": "PubMed", "id": "32075106", "url": "https://glygen.org/publication/PubMed/32075106" }, { "database": "PubMed", "id": "32081857", "url": "https://glygen.org/publication/PubMed/32081857" }, { "database": "PubMed", "id": "32101017", "url": "https://glygen.org/publication/PubMed/32101017" }, { "database": "PubMed", "id": "32116552", "url": "https://glygen.org/publication/PubMed/32116552" }, { "database": "PubMed", "id": "32117763", "url": "https://glygen.org/publication/PubMed/32117763" }, { "database": "PubMed", "id": "32140390", "url": "https://glygen.org/publication/PubMed/32140390" }, { "database": "PubMed", "id": "32152268", "url": "https://glygen.org/publication/PubMed/32152268" }, { "database": "PubMed", "id": "32152504", "url": "https://glygen.org/publication/PubMed/32152504" }, { "database": "PubMed", "id": "32174768", "url": "https://glygen.org/publication/PubMed/32174768" }, { "database": "PubMed", "id": "32176823", "url": "https://glygen.org/publication/PubMed/32176823" }, { "database": "PubMed", "id": "32194726", "url": "https://glygen.org/publication/PubMed/32194726" }, { "database": "PubMed", "id": "32265715", "url": "https://glygen.org/publication/PubMed/32265715" }, { "database": "PubMed", "id": "32276265", "url": "https://glygen.org/publication/PubMed/32276265" }, { "database": "PubMed", "id": "32286266", "url": "https://glygen.org/publication/PubMed/32286266" }, { "database": "PubMed", "id": "32290365", "url": "https://glygen.org/publication/PubMed/32290365" }, { "database": "PubMed", "id": "32316166", "url": "https://glygen.org/publication/PubMed/32316166" }, { "database": "PubMed", "id": "32323830", "url": "https://glygen.org/publication/PubMed/32323830" }, { "database": "PubMed", "id": "32340328", "url": "https://glygen.org/publication/PubMed/32340328" }, { "database": "PubMed", "id": "32341333", "url": "https://glygen.org/publication/PubMed/32341333" }, { "database": "PubMed", "id": "32347294", "url": "https://glygen.org/publication/PubMed/32347294" }, { "database": "PubMed", "id": "32347651", "url": "https://glygen.org/publication/PubMed/32347651" }, { "database": "PubMed", "id": "32350708", "url": "https://glygen.org/publication/PubMed/32350708" }, { "database": "PubMed", "id": "32363163", "url": "https://glygen.org/publication/PubMed/32363163" }, { "database": "PubMed", "id": "32365859", "url": "https://glygen.org/publication/PubMed/32365859" }, { "database": "PubMed", "id": "32371982", "url": "https://glygen.org/publication/PubMed/32371982" }, { "database": "PubMed", "id": "32374759", "url": "https://glygen.org/publication/PubMed/32374759" }, { "database": "PubMed", "id": "32375544", "url": "https://glygen.org/publication/PubMed/32375544" }, { "database": "PubMed", "id": "32375768", "url": "https://glygen.org/publication/PubMed/32375768" }, { "database": "PubMed", "id": "32385243", "url": "https://glygen.org/publication/PubMed/32385243" }, { "database": "PubMed", "id": "32398948", "url": "https://glygen.org/publication/PubMed/32398948" }, { "database": "PubMed", "id": "32410646", "url": "https://glygen.org/publication/PubMed/32410646" }, { "database": "PubMed", "id": "32414345", "url": "https://glygen.org/publication/PubMed/32414345" }, { "database": "PubMed", "id": "32421688", "url": "https://glygen.org/publication/PubMed/32421688" }, { "database": "PubMed", "id": "32432052", "url": "https://glygen.org/publication/PubMed/32432052" }, { "database": "PubMed", "id": "32437392", "url": "https://glygen.org/publication/PubMed/32437392" }, { "database": "PubMed", "id": "32439931", "url": "https://glygen.org/publication/PubMed/32439931" }, { "database": "PubMed", "id": "32440143", "url": "https://glygen.org/publication/PubMed/32440143" }, { "database": "PubMed", "id": "32442683", "url": "https://glygen.org/publication/PubMed/32442683" }, { "database": "PubMed", "id": "32463592", "url": "https://glygen.org/publication/PubMed/32463592" }, { "database": "PubMed", "id": "32466169", "url": "https://glygen.org/publication/PubMed/32466169" }, { "database": "PubMed", "id": "32471246", "url": "https://glygen.org/publication/PubMed/32471246" }, { "database": "PubMed", "id": "32499871", "url": "https://glygen.org/publication/PubMed/32499871" }, { "database": "PubMed", "id": "32516328", "url": "https://glygen.org/publication/PubMed/32516328" }, { "database": "PubMed", "id": "32530390", "url": "https://glygen.org/publication/PubMed/32530390" }, { "database": "PubMed", "id": "32541784", "url": "https://glygen.org/publication/PubMed/32541784" }, { "database": "PubMed", "id": "32547096", "url": "https://glygen.org/publication/PubMed/32547096" }, { "database": "PubMed", "id": "32547392", "url": "https://glygen.org/publication/PubMed/32547392" }, { "database": "PubMed", "id": "32554303", "url": "https://glygen.org/publication/PubMed/32554303" }, { "database": "PubMed", "id": "32555194", "url": "https://glygen.org/publication/PubMed/32555194" }, { "database": "PubMed", "id": "32560319", "url": "https://glygen.org/publication/PubMed/32560319" }, { "database": "PubMed", "id": "32576196", "url": "https://glygen.org/publication/PubMed/32576196" }, { "database": "PubMed", "id": "32579864", "url": "https://glygen.org/publication/PubMed/32579864" }, { "database": "PubMed", "id": "32587773", "url": "https://glygen.org/publication/PubMed/32587773" }, { "database": "PubMed", "id": "32610557", "url": "https://glygen.org/publication/PubMed/32610557" }, { "database": "PubMed", "id": "32627020", "url": "https://glygen.org/publication/PubMed/32627020" }, { "database": "PubMed", "id": "32627831", "url": "https://glygen.org/publication/PubMed/32627831" }, { "database": "PubMed", "id": "32635337", "url": "https://glygen.org/publication/PubMed/32635337" }, { "database": "PubMed", "id": "32661241", "url": "https://glygen.org/publication/PubMed/32661241" }, { "database": "PubMed", "id": "32665601", "url": "https://glygen.org/publication/PubMed/32665601" }, { "database": "PubMed", "id": "32676926", "url": "https://glygen.org/publication/PubMed/32676926" }, { "database": "PubMed", "id": "32678073", "url": "https://glygen.org/publication/PubMed/32678073" }, { "database": "PubMed", "id": "32694512", "url": "https://glygen.org/publication/PubMed/32694512" }, { "database": "PubMed", "id": "32705280", "url": "https://glygen.org/publication/PubMed/32705280" }, { "database": "PubMed", "id": "32705779", "url": "https://glygen.org/publication/PubMed/32705779" }, { "database": "PubMed", "id": "32707717", "url": "https://glygen.org/publication/PubMed/32707717" }, { "database": "PubMed", "id": "32728700", "url": "https://glygen.org/publication/PubMed/32728700" }, { "database": "PubMed", "id": "32733154", "url": "https://glygen.org/publication/PubMed/32733154" }, { "database": "PubMed", "id": "32733649", "url": "https://glygen.org/publication/PubMed/32733649" }, { "database": "PubMed", "id": "32744507", "url": "https://glygen.org/publication/PubMed/32744507" }, { "database": "PubMed", "id": "32753891", "url": "https://glygen.org/publication/PubMed/32753891" }, { "database": "PubMed", "id": "32753957", "url": "https://glygen.org/publication/PubMed/32753957" }, { "database": "PubMed", "id": "32756405", "url": "https://glygen.org/publication/PubMed/32756405" }, { "database": "PubMed", "id": "32758183", "url": "https://glygen.org/publication/PubMed/32758183" }, { "database": "PubMed", "id": "32766133", "url": "https://glygen.org/publication/PubMed/32766133" }, { "database": "PubMed", "id": "32781572", "url": "https://glygen.org/publication/PubMed/32781572" }, { "database": "PubMed", "id": "32782388", "url": "https://glygen.org/publication/PubMed/32782388" }, { "database": "PubMed", "id": "32787969", "url": "https://glygen.org/publication/PubMed/32787969" }, { "database": "PubMed", "id": "32788653", "url": "https://glygen.org/publication/PubMed/32788653" }, { "database": "PubMed", "id": "32794021", "url": "https://glygen.org/publication/PubMed/32794021" }, { "database": "PubMed", "id": "32811805", "url": "https://glygen.org/publication/PubMed/32811805" }, { "database": "PubMed", "id": "32823607", "url": "https://glygen.org/publication/PubMed/32823607" }, { "database": "PubMed", "id": "32825725", "url": "https://glygen.org/publication/PubMed/32825725" }, { "database": "PubMed", "id": "32829599", "url": "https://glygen.org/publication/PubMed/32829599" }, { "database": "PubMed", "id": "32842681", "url": "https://glygen.org/publication/PubMed/32842681" }, { "database": "PubMed", "id": "32843616", "url": "https://glygen.org/publication/PubMed/32843616" }, { "database": "PubMed", "id": "32850353", "url": "https://glygen.org/publication/PubMed/32850353" }, { "database": "PubMed", "id": "32863234", "url": "https://glygen.org/publication/PubMed/32863234" }, { "database": "PubMed", "id": "32867711", "url": "https://glygen.org/publication/PubMed/32867711" }, { "database": "PubMed", "id": "32875583", "url": "https://glygen.org/publication/PubMed/32875583" }, { "database": "PubMed", "id": "32877278", "url": "https://glygen.org/publication/PubMed/32877278" }, { "database": "PubMed", "id": "32899862", "url": "https://glygen.org/publication/PubMed/32899862" }, { "database": "PubMed", "id": "32904445", "url": "https://glygen.org/publication/PubMed/32904445" }, { "database": "PubMed", "id": "32913468", "url": "https://glygen.org/publication/PubMed/32913468" }, { "database": "PubMed", "id": "32921413", "url": "https://glygen.org/publication/PubMed/32921413" }, { "database": "PubMed", "id": "32922037", "url": "https://glygen.org/publication/PubMed/32922037" }, { "database": "PubMed", "id": "32922194", "url": "https://glygen.org/publication/PubMed/32922194" }, { "database": "PubMed", "id": "32945383", "url": "https://glygen.org/publication/PubMed/32945383" }, { "database": "PubMed", "id": "32945500", "url": "https://glygen.org/publication/PubMed/32945500" }, { "database": "PubMed", "id": "32948740", "url": "https://glygen.org/publication/PubMed/32948740" }, { "database": "PubMed", "id": "32957504", "url": "https://glygen.org/publication/PubMed/32957504" }, { "database": "PubMed", "id": "32962206", "url": "https://glygen.org/publication/PubMed/32962206" }, { "database": "PubMed", "id": "32968045", "url": "https://glygen.org/publication/PubMed/32968045" }, { "database": "PubMed", "id": "32977414", "url": "https://glygen.org/publication/PubMed/32977414" }, { "database": "PubMed", "id": "33006750", "url": "https://glygen.org/publication/PubMed/33006750" }, { "database": "PubMed", "id": "33007920", "url": "https://glygen.org/publication/PubMed/33007920" }, { "database": "PubMed", "id": "33008000", "url": "https://glygen.org/publication/PubMed/33008000" }, { "database": "PubMed", "id": "33013390", "url": "https://glygen.org/publication/PubMed/33013390" }, { "database": "PubMed", "id": "33013932", "url": "https://glygen.org/publication/PubMed/33013932" }, { "database": "PubMed", "id": "33015464", "url": "https://glygen.org/publication/PubMed/33015464" }, { "database": "PubMed", "id": "33024816", "url": "https://glygen.org/publication/PubMed/33024816" }, { "database": "PubMed", "id": "33037285", "url": "https://glygen.org/publication/PubMed/33037285" }, { "database": "PubMed", "id": "33038921", "url": "https://glygen.org/publication/PubMed/33038921" }, { "database": "PubMed", "id": "33040080", "url": "https://glygen.org/publication/PubMed/33040080" }, { "database": "PubMed", "id": "33047031", "url": "https://glygen.org/publication/PubMed/33047031" }, { "database": "PubMed", "id": "33054056", "url": "https://glygen.org/publication/PubMed/33054056" }, { "database": "PubMed", "id": "33060766", "url": "https://glygen.org/publication/PubMed/33060766" }, { "database": "PubMed", "id": "33062024", "url": "https://glygen.org/publication/PubMed/33062024" }, { "database": "PubMed", "id": "33071789", "url": "https://glygen.org/publication/PubMed/33071789" }, { "database": "PubMed", "id": "33072436", "url": "https://glygen.org/publication/PubMed/33072436" }, { "database": "PubMed", "id": "33082914", "url": "https://glygen.org/publication/PubMed/33082914" }, { "database": "PubMed", "id": "33101052", "url": "https://glygen.org/publication/PubMed/33101052" }, { "database": "PubMed", "id": "33103284", "url": "https://glygen.org/publication/PubMed/33103284" }, { "database": "PubMed", "id": "33106477", "url": "https://glygen.org/publication/PubMed/33106477" }, { "database": "PubMed", "id": "33114687", "url": "https://glygen.org/publication/PubMed/33114687" }, { "database": "PubMed", "id": "33116125", "url": "https://glygen.org/publication/PubMed/33116125" }, { "database": "PubMed", "id": "33121495", "url": "https://glygen.org/publication/PubMed/33121495" }, { "database": "PubMed", "id": "33125102", "url": "https://glygen.org/publication/PubMed/33125102" }, { "database": "PubMed", "id": "33138025", "url": "https://glygen.org/publication/PubMed/33138025" }, { "database": "PubMed", "id": "33138208", "url": "https://glygen.org/publication/PubMed/33138208" }, { "database": "PubMed", "id": "33139695", "url": "https://glygen.org/publication/PubMed/33139695" }, { "database": "PubMed", "id": "33147101", "url": "https://glygen.org/publication/PubMed/33147101" }, { "database": "PubMed", "id": "33150178", "url": "https://glygen.org/publication/PubMed/33150178" }, { "database": "PubMed", "id": "33153119", "url": "https://glygen.org/publication/PubMed/33153119" }, { "database": "PubMed", "id": "33177160", "url": "https://glygen.org/publication/PubMed/33177160" }, { "database": "PubMed", "id": "33179291", "url": "https://glygen.org/publication/PubMed/33179291" }, { "database": "PubMed", "id": "33184290", "url": "https://glygen.org/publication/PubMed/33184290" }, { "database": "PubMed", "id": "33186539", "url": "https://glygen.org/publication/PubMed/33186539" }, { "database": "PubMed", "id": "33193858", "url": "https://glygen.org/publication/PubMed/33193858" }, { "database": "PubMed", "id": "33212946", "url": "https://glygen.org/publication/PubMed/33212946" }, { "database": "PubMed", "id": "33219203", "url": "https://glygen.org/publication/PubMed/33219203" }, { "database": "PubMed", "id": "33240414", "url": "https://glygen.org/publication/PubMed/33240414" }, { "database": "PubMed", "id": "33243998", "url": "https://glygen.org/publication/PubMed/33243998" }, { "database": "PubMed", "id": "33256016", "url": "https://glygen.org/publication/PubMed/33256016" }, { "database": "PubMed", "id": "33266502", "url": "https://glygen.org/publication/PubMed/33266502" }, { "database": "PubMed", "id": "33280832", "url": "https://glygen.org/publication/PubMed/33280832" }, { "database": "PubMed", "id": "33282634", "url": "https://glygen.org/publication/PubMed/33282634" }, { "database": "PubMed", "id": "33293793", "url": "https://glygen.org/publication/PubMed/33293793" }, { "database": "PubMed", "id": "33303839", "url": "https://glygen.org/publication/PubMed/33303839" }, { "database": "PubMed", "id": "33318473", "url": "https://glygen.org/publication/PubMed/33318473" }, { "database": "PubMed", "id": "33318517", "url": "https://glygen.org/publication/PubMed/33318517" }, { "database": "PubMed", "id": "33319180", "url": "https://glygen.org/publication/PubMed/33319180" }, { "database": "PubMed", "id": "33338921", "url": "https://glygen.org/publication/PubMed/33338921" }, { "database": "PubMed", "id": "33363017", "url": "https://glygen.org/publication/PubMed/33363017" }, { "database": "PubMed", "id": "33364504", "url": "https://glygen.org/publication/PubMed/33364504" }, { "database": "PubMed", "id": "33376545", "url": "https://glygen.org/publication/PubMed/33376545" }, { "database": "PubMed", "id": "33390782", "url": "https://glygen.org/publication/PubMed/33390782" }, { "database": "PubMed", "id": "33390959", "url": "https://glygen.org/publication/PubMed/33390959" }, { "database": "PubMed", "id": "33392189", "url": "https://glygen.org/publication/PubMed/33392189" }, { "database": "PubMed", "id": "33407478", "url": "https://glygen.org/publication/PubMed/33407478" }, { "database": "PubMed", "id": "33413430", "url": "https://glygen.org/publication/PubMed/33413430" }, { "database": "PubMed", "id": "33414447", "url": "https://glygen.org/publication/PubMed/33414447" }, { "database": "PubMed", "id": "33452459", "url": "https://glygen.org/publication/PubMed/33452459" }, { "database": "PubMed", "id": "33455947", "url": "https://glygen.org/publication/PubMed/33455947" }, { "database": "PubMed", "id": "33468992", "url": "https://glygen.org/publication/PubMed/33468992" }, { "database": "PubMed", "id": "33477701", "url": "https://glygen.org/publication/PubMed/33477701" }, { "database": "PubMed", "id": "33500384", "url": "https://glygen.org/publication/PubMed/33500384" }, { "database": "PubMed", "id": "33506378", "url": "https://glygen.org/publication/PubMed/33506378" }, { "database": "PubMed", "id": "33526785", "url": "https://glygen.org/publication/PubMed/33526785" }, { "database": "PubMed", "id": "33530617", "url": "https://glygen.org/publication/PubMed/33530617" }, { "database": "PubMed", "id": "33535610", "url": "https://glygen.org/publication/PubMed/33535610" }, { "database": "PubMed", "id": "33537819", "url": "https://glygen.org/publication/PubMed/33537819" }, { "database": "PubMed", "id": "33547375", "url": "https://glygen.org/publication/PubMed/33547375" }, { "database": "PubMed", "id": "33552283", "url": "https://glygen.org/publication/PubMed/33552283" }, { "database": "PubMed", "id": "33562475", "url": "https://glygen.org/publication/PubMed/33562475" }, { "database": "PubMed", "id": "33566837", "url": "https://glygen.org/publication/PubMed/33566837" }, { "database": "PubMed", "id": "33571243", "url": "https://glygen.org/publication/PubMed/33571243" }, { "database": "PubMed", "id": "33575473", "url": "https://glygen.org/publication/PubMed/33575473" }, { "database": "PubMed", "id": "33576447", "url": "https://glygen.org/publication/PubMed/33576447" }, { "database": "PubMed", "id": "33579227", "url": "https://glygen.org/publication/PubMed/33579227" }, { "database": "PubMed", "id": "33585557", "url": "https://glygen.org/publication/PubMed/33585557" }, { "database": "PubMed", "id": "33588847", "url": "https://glygen.org/publication/PubMed/33588847" }, { "database": "PubMed", "id": "33614493", "url": "https://glygen.org/publication/PubMed/33614493" }, { "database": "PubMed", "id": "33614606", "url": "https://glygen.org/publication/PubMed/33614606" }, { "database": "PubMed", "id": "33615197", "url": "https://glygen.org/publication/PubMed/33615197" }, { "database": "PubMed", "id": "33624300", "url": "https://glygen.org/publication/PubMed/33624300" }, { "database": "PubMed", "id": "33648498", "url": "https://glygen.org/publication/PubMed/33648498" }, { "database": "PubMed", "id": "33659212", "url": "https://glygen.org/publication/PubMed/33659212" }, { "database": "PubMed", "id": "33659252", "url": "https://glygen.org/publication/PubMed/33659252" }, { "database": "PubMed", "id": "33664437", "url": "https://glygen.org/publication/PubMed/33664437" }, { "database": "PubMed", "id": "33664847", "url": "https://glygen.org/publication/PubMed/33664847" }, { "database": "PubMed", "id": "33670586", "url": "https://glygen.org/publication/PubMed/33670586" }, { "database": "PubMed", "id": "33672955", "url": "https://glygen.org/publication/PubMed/33672955" }, { "database": "PubMed", "id": "33686185", "url": "https://glygen.org/publication/PubMed/33686185" }, { "database": "PubMed", "id": "33690611", "url": "https://glygen.org/publication/PubMed/33690611" }, { "database": "PubMed", "id": "33718332", "url": "https://glygen.org/publication/PubMed/33718332" }, { "database": "PubMed", "id": "33723214", "url": "https://glygen.org/publication/PubMed/33723214" }, { "database": "PubMed", "id": "33723215", "url": "https://glygen.org/publication/PubMed/33723215" }, { "database": "PubMed", "id": "33731670", "url": "https://glygen.org/publication/PubMed/33731670" }, { "database": "PubMed", "id": "33732339", "url": "https://glygen.org/publication/PubMed/33732339" }, { "database": "PubMed", "id": "33742122", "url": "https://glygen.org/publication/PubMed/33742122" }, { "database": "PubMed", "id": "33758209", "url": "https://glygen.org/publication/PubMed/33758209" }, { "database": "PubMed", "id": "33785835", "url": "https://glygen.org/publication/PubMed/33785835" }, { "database": "PubMed", "id": "33802884", "url": "https://glygen.org/publication/PubMed/33802884" }, { "database": "PubMed", "id": "33808215", "url": "https://glygen.org/publication/PubMed/33808215" }, { "database": "PubMed", "id": "33817134", "url": "https://glygen.org/publication/PubMed/33817134" }, { "database": "PubMed", "id": "33817584", "url": "https://glygen.org/publication/PubMed/33817584" }, { "database": "PubMed", "id": "33824274", "url": "https://glygen.org/publication/PubMed/33824274" }, { "database": "PubMed", "id": "33829865", "url": "https://glygen.org/publication/PubMed/33829865" }, { "database": "PubMed", "id": "33837205", "url": "https://glygen.org/publication/PubMed/33837205" }, { "database": "PubMed", "id": "33839702", "url": "https://glygen.org/publication/PubMed/33839702" }, { "database": "PubMed", "id": "33845796", "url": "https://glygen.org/publication/PubMed/33845796" }, { "database": "PubMed", "id": "33850634", "url": "https://glygen.org/publication/PubMed/33850634" }, { "database": "PubMed", "id": "33854967", "url": "https://glygen.org/publication/PubMed/33854967" }, { "database": "PubMed", "id": "33858515", "url": "https://glygen.org/publication/PubMed/33858515" }, { "database": "PubMed", "id": "33867823", "url": "https://glygen.org/publication/PubMed/33867823" }, { "database": "PubMed", "id": "33868237", "url": "https://glygen.org/publication/PubMed/33868237" }, { "database": "PubMed", "id": "33868471", "url": "https://glygen.org/publication/PubMed/33868471" }, { "database": "PubMed", "id": "33874915", "url": "https://glygen.org/publication/PubMed/33874915" }, { "database": "PubMed", "id": "33916378", "url": "https://glygen.org/publication/PubMed/33916378" }, { "database": "PubMed", "id": "33959030", "url": "https://glygen.org/publication/PubMed/33959030" }, { "database": "PubMed", "id": "33967735", "url": "https://glygen.org/publication/PubMed/33967735" }, { "database": "PubMed", "id": "34033176", "url": "https://glygen.org/publication/PubMed/34033176" }, { "database": "PubMed", "id": "34073781", "url": "https://glygen.org/publication/PubMed/34073781" }, { "database": "PubMed", "id": "34200497", "url": "https://glygen.org/publication/PubMed/34200497" }, { "database": "PubMed", "id": "34522717", "url": "https://glygen.org/publication/PubMed/34522717" }, { "database": "PubMed", "id": "34589963", "url": "https://glygen.org/publication/PubMed/34589963" }, { "database": "PubMed", "id": "34909046", "url": "https://glygen.org/publication/PubMed/34909046" }, { "database": "PubMed", "id": "34918581", "url": "https://glygen.org/publication/PubMed/34918581" }, { "database": "PubMed", "id": "34938598", "url": "https://glygen.org/publication/PubMed/34938598" }, { "database": "PubMed", "id": "34995578", "url": "https://glygen.org/publication/PubMed/34995578" }, { "database": "PubMed", "id": "35008578", "url": "https://glygen.org/publication/PubMed/35008578" }, { "database": "PubMed", "id": "35126712", "url": "https://glygen.org/publication/PubMed/35126712" }, { "database": "PubMed", "id": "35250564", "url": "https://glygen.org/publication/PubMed/35250564" }, { "database": "PubMed", "id": "35269443", "url": "https://glygen.org/publication/PubMed/35269443" }, { "database": "PubMed", "id": "35271909", "url": "https://glygen.org/publication/PubMed/35271909" }, { "database": "PubMed", "id": "35347116", "url": "https://glygen.org/publication/PubMed/35347116" }, { "database": "PubMed", "id": "35366279", "url": "https://glygen.org/publication/PubMed/35366279" }, { "database": "PubMed", "id": "35514261", "url": "https://glygen.org/publication/PubMed/35514261" }, { "database": "PubMed", "id": "35641033", "url": "https://glygen.org/publication/PubMed/35641033" }, { "database": "PubMed", "id": "35661967", "url": "https://glygen.org/publication/PubMed/35661967" }, { "database": "PubMed", "id": "35731713", "url": "https://glygen.org/publication/PubMed/35731713" }, { "database": "PubMed", "id": "35783523", "url": "https://glygen.org/publication/PubMed/35783523" }, { "database": "PubMed", "id": "35918763", "url": "https://glygen.org/publication/PubMed/35918763" }, { "database": "PubMed", "id": "35929438", "url": "https://glygen.org/publication/PubMed/35929438" }, { "database": "PubMed", "id": "35954193", "url": "https://glygen.org/publication/PubMed/35954193" }, { "database": "PubMed", "id": "35977495", "url": "https://glygen.org/publication/PubMed/35977495" }, { "database": "PubMed", "id": "36041631", "url": "https://glygen.org/publication/PubMed/36041631" }, { "database": "PubMed", "id": "36115854", "url": "https://glygen.org/publication/PubMed/36115854" }, { "database": "PubMed", "id": "36142605", "url": "https://glygen.org/publication/PubMed/36142605" }, { "database": "PubMed", "id": "36174454", "url": "https://glygen.org/publication/PubMed/36174454" }, { "database": "PubMed", "id": "36182968", "url": "https://glygen.org/publication/PubMed/36182968" }, { "database": "PubMed", "id": "36222151", "url": "https://glygen.org/publication/PubMed/36222151" }, { "database": "PubMed", "id": "36222195", "url": "https://glygen.org/publication/PubMed/36222195" }, { "database": "PubMed", "id": "36314765", "url": "https://glygen.org/publication/PubMed/36314765" }, { "database": "PubMed", "id": "36404440", "url": "https://glygen.org/publication/PubMed/36404440" }, { "database": "PubMed", "id": "36406198", "url": "https://glygen.org/publication/PubMed/36406198" }, { "database": "PubMed", "id": "36444808", "url": "https://glygen.org/publication/PubMed/36444808" }, { "database": "PubMed", "id": "9094314", "url": "https://glygen.org/publication/PubMed/9094314" }, { "database": "PubMed", "id": "9722592", "url": "https://glygen.org/publication/PubMed/9722592" }, { "database": "PubMed", "id": "9736715", "url": "https://glygen.org/publication/PubMed/9736715" }, { "database": "PubMed", "id": "9850049", "url": "https://glygen.org/publication/PubMed/9850049" }, { "database": "PubMed", "id": "9857186", "url": "https://glygen.org/publication/PubMed/9857186" }, { "database": "PubMed", "id": "15047712", "url": "https://glygen.org/publication/PubMed/15047712" }, { "database": "PubMed", "id": "16266983", "url": "https://glygen.org/publication/PubMed/16266983" }, { "database": "PubMed", "id": "20333297", "url": "https://glygen.org/publication/PubMed/20333297" }, { "database": "PubMed", "id": "20978158", "url": "https://glygen.org/publication/PubMed/20978158" }, { "database": "PubMed", "id": "14761976", "url": "https://glygen.org/publication/PubMed/14761976" } ], "site_lbl": "Ser473" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "P31749-1.463.463", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P31749-1.474.474", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P31749-1.475.475", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P31749-1.477.477", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P31749-1.479.479", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 18 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2529 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.474.474", "start_pos": 474, "end_pos": 474, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Multifaceted Regulation of Akt by Diverse C-Terminal Post-translational Modifications.", "journal": "ACS chemical biology", "date": "2022-01-21", "authors": "Salguero Antonieta L, Chen Maggie, Balana Aaron T, Chu Nam, Jiang Hanjie, Palanski Brad A, Bae Hwan, Wright Katharine M, Nathan Sara, Zhu Heng, Gabelli Sandra B, Pratt Matthew R, Cole Philip A", "evidence": [ { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "34941261", "url": "https://glygen.org/publication/PubMed/34941261" } ] }, { "title": "Direct identification of tyrosine 474 as a regulatory phosphorylation site for the Akt protein kinase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Conus NM, Hannan KM, Cristiano BE, Hemmings BA, Pearson RB", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "12149249", "url": "https://glygen.org/publication/PubMed/12149249" } ] } ], "crossref": [ { "id": "34941261", "url": "https://glygen.org/publication/PubMed/34941261", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12149249", "url": "https://glygen.org/publication/PubMed/12149249", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2542099334", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2542099334", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "QDDSMECVDSERRPHFPQFS", "down_seq": "SASGTA", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "automatic_literature_mining", "site_category_dict": { "automatic_literature_mining": true }, "site_seq": "Y", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Tyr", "end_aa": "Tyr", "residue": "Tyr", "site_lbl": "Tyr474", "evidence": [ { "id": "34941261", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34941261" }, { "id": "GLY_000481", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000481" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "55% inhibition of activation.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "12149249", "url": "https://glygen.org/publication/PubMed/12149249" } ] } ], "snv": [ { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "Y", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (Y->*).", "chr_id": "14", "chr_pos": "104770362", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y474", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2542099334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2542099334" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (Y->H).", "chr_id": "14", "chr_pos": "104770364", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y474", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "12149249", "url": "https://glygen.org/publication/PubMed/12149249" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "34941261", "url": "https://glygen.org/publication/PubMed/34941261" } ], "site_lbl": "Tyr474" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P31749-1.463.463", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P31749-1.473.473", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P31749-1.475.475", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P31749-1.477.477", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P31749-1.479.479", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.14.14", "start_pos": 14, "end_pos": 14, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "The deacetylase SIRT1 promotes membrane localization and activation of Akt and PDK1 during tumorigenesis and cardiac hypertrophy.", "journal": "Science signaling", "date": "2011", "authors": "Sundaresan NR, Pillai VB, Wolfgeher D, Samant S, Vasudevan P, Parekh V, Raghuraman H, Cunningham JM, Gupta M, Gupta MP", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "reference": [ { "type": "PubMed", "id": "21775285", "url": "https://glygen.org/publication/PubMed/21775285" } ] }, { "title": "The E3 ligase TRAF6 regulates Akt ubiquitination and activation.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Yang WL, Wang J, Chan CH, Lee SW, Campos AD, Lamothe B, Hur L, Grabiner BC, Lin X, Darnay BG, Lin HK", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "reference": [ { "type": "PubMed", "id": "19713527", "url": "https://glygen.org/publication/PubMed/19713527" } ] }, { "title": "High-resolution structure of the pleckstrin homology domain of protein kinase b/akt bound to phosphatidylinositol (3,4,5)-trisphosphate.", "journal": "Current biology : CB", "date": "2002", "authors": "Thomas CC, Deak M, Alessi DR, van Aalten DM", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "Reactome", "id": "R-HSA-9856530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9856530" } ], "reference": [ { "type": "PubMed", "id": "12176338", "url": "https://glygen.org/publication/PubMed/12176338" } ] } ], "crossref": [ { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21775285", "url": "https://glygen.org/publication/PubMed/21775285", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19713527", "url": "https://glygen.org/publication/PubMed/19713527", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12176338", "url": "https://glygen.org/publication/PubMed/12176338", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "MSDVAIVKEGWLH", "down_seq": "RGEYIKTWRPRYFLLKNDGT", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs interaction with PtdIns(3,4,5)P3 and PtdIns(3,4)P2.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "21775285", "url": "https://glygen.org/publication/PubMed/21775285" }, { "database": "PubMed", "id": "19713527", "url": "https://glygen.org/publication/PubMed/19713527" }, { "database": "PubMed", "id": "12176338", "url": "https://glygen.org/publication/PubMed/12176338" } ] }, { "sequence_org": "K", "sequence_mut": "Q", "comment": "Substantial reduction of phosphorylation at T-308 and S-473, loss of AKT activation, and loss of binding to PIP3 as well as IGF1-induced membrane recruitment.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "21775285", "url": "https://glygen.org/publication/PubMed/21775285" }, { "database": "PubMed", "id": "19713527", "url": "https://glygen.org/publication/PubMed/19713527" }, { "database": "PubMed", "id": "12176338", "url": "https://glygen.org/publication/PubMed/12176338" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Substantial reduction of ubiquitination, phosphorylation at T-308 and S-473, AKT activation, loss of binding to PIP3 as well as IGF1-induced membrane recruitment.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "21775285", "url": "https://glygen.org/publication/PubMed/21775285" }, { "database": "PubMed", "id": "19713527", "url": "https://glygen.org/publication/PubMed/19713527" }, { "database": "PubMed", "id": "12176338", "url": "https://glygen.org/publication/PubMed/12176338" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P31749-1.0.0", "categories": [ "biomarkers_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P31749-1.2.2", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P31749-1.8.8", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P31749-1.17.17", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P31749-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P31749-1.20.20", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P31749-1.25.25", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P31749-1.26.26", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P31749-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P31749-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P31749-1.34.34", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.176.176", "start_pos": 176, "end_pos": 176, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Ack1 mediated AKT/PKB tyrosine 176 phosphorylation regulates its activation.", "journal": "PloS one", "date": "2010", "authors": "Mahajan K, Coppola D, Challa S, Fang B, Chen YA, Zhu W, Lopez AS, Koomen J, Engelman RW, Rivera C, Muraoka-Cook RS, Cheng JQ, Schonbrunn E, Sebti SM, Earp HS, Mahajan NP", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20333297", "url": "https://glygen.org/publication/PubMed/20333297" } ] }, { "title": "Ack1 tyrosine kinase activation correlates with pancreatic cancer progression.", "journal": "The American journal of pathology", "date": "2012", "authors": "Mahajan K, Coppola D, Chen YA, Zhu W, Lawrence HR, Lawrence NJ, Mahajan NP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22322295", "url": "https://glygen.org/publication/PubMed/22322295" } ] }, { "title": "Shepherding AKT and androgen receptor by Ack1 tyrosine kinase.", "journal": "Journal of cellular physiology", "date": "2010", "authors": "Mahajan K, Mahajan NP", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20432460", "url": "https://glygen.org/publication/PubMed/20432460" } ] } ], "crossref": [ { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20333297", "url": "https://glygen.org/publication/PubMed/20333297", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "22322295", "url": "https://glygen.org/publication/PubMed/22322295", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20432460", "url": "https://glygen.org/publication/PubMed/20432460", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LGKGTFGKVILVKEKATGRY", "down_seq": "AMKILKKEVIVAKDEVAHTL", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Significant loss of interaction with TNK2. Loss of membrane localization. Significant reduction in phosphorylation on Ser-473.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "20333297", "url": "https://glygen.org/publication/PubMed/20333297" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q07912-1", "kinase_gene_name": "TNK2", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "20333297", "url": "https://glygen.org/publication/PubMed/20333297" }, { "database": "PubMed", "id": "22322295", "url": "https://glygen.org/publication/PubMed/22322295" } ], "site_lbl": "Tyr176" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by TNK2", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "20432460", "url": "https://glygen.org/publication/PubMed/20432460" }, { "database": "PubMed", "id": "20333297", "url": "https://glygen.org/publication/PubMed/20333297" } ], "site_lbl": "Tyr176" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P31749-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P31749-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P31749-1.172.172", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P31749-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P31749-1.179.179", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.179.179", "start_pos": 179, "end_pos": 179, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling.", "journal": "Nature cell biology", "date": "2002", "authors": "Inoki K, Li Y, Zhu T, Wu J, Guan KL", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "Reactome", "id": "R-HSA-5674400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5674400" } ], "reference": [ { "type": "PubMed", "id": "12172553", "url": "https://glygen.org/publication/PubMed/12172553" } ] }, { "title": "RNF167 activates mTORC1 and promotes tumorigenesis by targeting CASTOR1 for ubiquitination and degradation.", "journal": "Nature communications", "date": "2021", "authors": "Li T, Wang X, Ju E, da Silva SR, Chen L, Zhang X, Wei S, Gao SJ", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "reference": [ { "type": "PubMed", "id": "33594058", "url": "https://glygen.org/publication/PubMed/33594058" } ] } ], "crossref": [ { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12172553", "url": "https://glygen.org/publication/PubMed/12172553", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33594058", "url": "https://glygen.org/publication/PubMed/33594058", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GTFGKVILVKEKATGRYYAM", "down_seq": "ILKKEVIVAKDEVAHTLTEN", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Abolished serine/threonine-protein kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "12172553", "url": "https://glygen.org/publication/PubMed/12172553" }, { "database": "PubMed", "id": "33594058", "url": "https://glygen.org/publication/PubMed/33594058" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "P31749-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P31749-1.172.172", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P31749-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P31749-1.176.176", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.17.17", "start_pos": 17, "end_pos": 17, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "The deacetylase SIRT1 promotes membrane localization and activation of Akt and PDK1 during tumorigenesis and cardiac hypertrophy.", "journal": "Science signaling", "date": "2011", "authors": "Sundaresan NR, Pillai VB, Wolfgeher D, Samant S, Vasudevan P, Parekh V, Raghuraman H, Cunningham JM, Gupta M, Gupta MP", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "reference": [ { "type": "PubMed", "id": "21775285", "url": "https://glygen.org/publication/PubMed/21775285" } ] } ], "crossref": [ { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21775285", "url": "https://glygen.org/publication/PubMed/21775285", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "MSDVAIVKEGWLHKRG", "down_seq": "YIKTWRPRYFLLKNDGTFIG", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Loss of membrane localization; when associated with Q-20.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "21775285", "url": "https://glygen.org/publication/PubMed/21775285" } ] } ], "snv": [ { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "26", "frequency": "0.5", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 3 filters: patient count (26/4799); num. of cancers (16); Lit. mined (19).", "chr_id": "14", "chr_pos": "104780214", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E17", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag", "snv_flag" ], "glycosylation": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P31749-1.0.0", "categories": [ "biomarkers_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P31749-1.2.2", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P31749-1.8.8", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P31749-1.14.14", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P31749-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P31749-1.20.20", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P31749-1.25.25", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P31749-1.26.26", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P31749-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P31749-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P31749-1.34.34", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.20.20", "start_pos": 20, "end_pos": 20, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "The deacetylase SIRT1 promotes membrane localization and activation of Akt and PDK1 during tumorigenesis and cardiac hypertrophy.", "journal": "Science signaling", "date": "2011", "authors": "Sundaresan NR, Pillai VB, Wolfgeher D, Samant S, Vasudevan P, Parekh V, Raghuraman H, Cunningham JM, Gupta M, Gupta MP", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "reference": [ { "type": "PubMed", "id": "21775285", "url": "https://glygen.org/publication/PubMed/21775285" } ] } ], "crossref": [ { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21775285", "url": "https://glygen.org/publication/PubMed/21775285", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "", "down_seq": "TWRPRYFLLKNDGTFIGYKE", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Substantial reduction of phosphorylation at T-308 and S-473, reduced AKT activation, and reduced binding to PIP3 as well as IGF1-induced membrane recruitment. Loss of membrane localization; when associated with K-17.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "21775285", "url": "https://glygen.org/publication/PubMed/21775285" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Slight increase of phosphorylation at T-308 and S-473.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "21775285", "url": "https://glygen.org/publication/PubMed/21775285" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P31749-1.0.0", "categories": [ "biomarkers_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P31749-1.2.2", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P31749-1.8.8", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P31749-1.14.14", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P31749-1.17.17", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P31749-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P31749-1.25.25", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P31749-1.26.26", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P31749-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P31749-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P31749-1.34.34", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P31749-1.40.40", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.25.25", "start_pos": 25, "end_pos": 25, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "High-resolution structure of the pleckstrin homology domain of protein kinase b/akt bound to phosphatidylinositol (3,4,5)-trisphosphate.", "journal": "Current biology : CB", "date": "2002", "authors": "Thomas CC, Deak M, Alessi DR, van Aalten DM", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "Reactome", "id": "R-HSA-9856530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9856530" } ], "reference": [ { "type": "PubMed", "id": "12176338", "url": "https://glygen.org/publication/PubMed/12176338" } ] } ], "crossref": [ { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12176338", "url": "https://glygen.org/publication/PubMed/12176338", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AIVKEGWLHKRGEYIKTWRP", "down_seq": "YFLLKNDGTFIGYKERPQDV", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Impairs interaction with PtdIns(3,4,5)P3 and PtdIns(3,4)P2.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "12176338", "url": "https://glygen.org/publication/PubMed/12176338" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P31749-1.8.8", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P31749-1.14.14", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P31749-1.17.17", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P31749-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P31749-1.20.20", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P31749-1.26.26", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P31749-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P31749-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P31749-1.34.34", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P31749-1.40.40", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.273.275", "start_pos": 273, "end_pos": 275, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Cell-cycle-regulated activation of Akt kinase by phosphorylation at its carboxyl terminus.", "journal": "Nature", "date": "2014", "authors": "Liu P, Begley M, Michowski W, Inuzuka H, Ginzberg M, Gao D, Tsou P, Gan W, Papa A, Kim BM, Wan L, Singh A, Zhai B, Yuan M, Wang Z, Gygi SP, Lee TH, Lu KP, Toker A, Pandolfi PP, Asara JM, Kirschner MW, Sicinski P, Cantley L, Wei W", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "reference": [ { "type": "PubMed", "id": "24670654", "url": "https://glygen.org/publication/PubMed/24670654" } ] } ], "crossref": [ { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24670654", "url": "https://glygen.org/publication/PubMed/24670654", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "RDL", "start_aa": "R", "up_seq": "YGAEIVSALDYLHSEKNVVY", "down_seq": "KLENLMLDKDGHIKITDFGL", "mutagenesis": [ { "sequence_org": "RDL", "sequence_mut": "ADA", "comment": "Abolished binding to cyclin-A, preventing phosphorylation by CDK2.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "24670654", "url": "https://glygen.org/publication/PubMed/24670654" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P31749-1.259.259", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P31749-1.291.291", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.76.78", "start_pos": 76, "end_pos": 78, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Cell-cycle-regulated activation of Akt kinase by phosphorylation at its carboxyl terminus.", "journal": "Nature", "date": "2014", "authors": "Liu P, Begley M, Michowski W, Inuzuka H, Ginzberg M, Gao D, Tsou P, Gan W, Papa A, Kim BM, Wan L, Singh A, Zhai B, Yuan M, Wang Z, Gygi SP, Lee TH, Lu KP, Toker A, Pandolfi PP, Asara JM, Kirschner MW, Sicinski P, Cantley L, Wei W", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "reference": [ { "type": "PubMed", "id": "24670654", "url": "https://glygen.org/publication/PubMed/24670654" } ] } ], "crossref": [ { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24670654", "url": "https://glygen.org/publication/PubMed/24670654", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "RCL", "start_aa": "R", "up_seq": "SVAQCQLMKTERPRPNTFII", "down_seq": "QWTTVIERTFHVETPEEREE", "mutagenesis": [ { "sequence_org": "RCL", "sequence_mut": "ACA", "comment": "Abolished binding to cyclin-A, preventing phosphorylation by CDK2.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "24670654", "url": "https://glygen.org/publication/PubMed/24670654" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P31749-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P31749-1.72.72", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P31749-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P31749-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P31749-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P31749-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P31749-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P31749-1.86.86", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.86.86", "start_pos": 86, "end_pos": 86, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "High-resolution structure of the pleckstrin homology domain of protein kinase b/akt bound to phosphatidylinositol (3,4,5)-trisphosphate.", "journal": "Current biology : CB", "date": "2002", "authors": "Thomas CC, Deak M, Alessi DR, van Aalten DM", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "Reactome", "id": "R-HSA-9856530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9856530" } ], "reference": [ { "type": "PubMed", "id": "12176338", "url": "https://glygen.org/publication/PubMed/12176338" } ] } ], "crossref": [ { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12176338", "url": "https://glygen.org/publication/PubMed/12176338", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ERPRPNTFIIRCLQWTTVIE", "down_seq": "TFHVETPEEREEWTTAIQTV", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Impairs interaction with PtdIns(3,4,5)P3 and PtdIns(3,4)P2.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "12176338", "url": "https://glygen.org/publication/PubMed/12176338" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P31749-1.72.72", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P31749-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P31749-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P31749-1.76.78", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P31749-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P31749-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P31749-1.85.85", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.8.8", "start_pos": 8, "end_pos": 8, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "The E3 ligase TRAF6 regulates Akt ubiquitination and activation.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Yang WL, Wang J, Chan CH, Lee SW, Campos AD, Lamothe B, Hur L, Grabiner BC, Lin X, Darnay BG, Lin HK", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "reference": [ { "type": "PubMed", "id": "19713527", "url": "https://glygen.org/publication/PubMed/19713527" } ] } ], "crossref": [ { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19713527", "url": "https://glygen.org/publication/PubMed/19713527", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "MSDVAIV", "down_seq": "EGWLHKRGEYIKTWRPRYFL", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Substantial reduction of ubiquitination, phosphorylation at T-308 and S-473, AKT activation as well as IGF1-induced membrane recruitment. Decrease in ubiquitination and phosphorylation at T-308 as well as impaired association with the membrane; when associated with K-17.", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "19713527", "url": "https://glygen.org/publication/PubMed/19713527" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "P31749-1.0.0", "categories": [ "biomarkers_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P31749-1.2.2", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P31749-1.14.14", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P31749-1.17.17", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P31749-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P31749-1.20.20", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P31749-1.25.25", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P31749-1.26.26", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.80.80", "start_pos": 80, "end_pos": 80, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P31749", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "CQLMKTERPRPNTFIIRCLQ", "down_seq": "TTVIERTFHVETPEEREEWT", "snv": [ { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "10", "frequency": "0.6", "sequence_org": "W", "sequence_mut": "R", "comment": "Somatic mutation passed 2 filters: patient count (10/1704); num. of cancers (4).", "chr_id": "14", "chr_pos": "104776708", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "W80", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "P31749-1.72.72", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P31749-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P31749-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P31749-1.76.78", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P31749-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P31749-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P31749-1.86.86", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.127.127", "start_pos": 127, "end_pos": 127, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P31749", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ADGLKKQEEEEMDFRSGSPS", "down_seq": "NSGAEEMEVSLAKPKHRVTM", "snv": [ { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DNS->NNS).", "chr_id": "14", "chr_pos": "104775708", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D127", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "P31749-1.122.122", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P31749-1.124.124", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P31749-1.126.126", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P31749-1.129.129", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.150.150", "start_pos": 150, "end_pos": 150, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2140918350", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140918350", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2140918350", "url": "https://www.ensembl.org/id/rs2140918350", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "GAEEMEVSLAKPKHRVTMNE", "down_seq": "EYLKLLGKGTFGKVILVKEK", "snv": [ { "evidence": [ { "id": "rs2140918350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140918350" }, { "id": "rs2140918350", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2140918350" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEF->NEC).", "chr_id": "14", "chr_pos": "104775194", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F150", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "P31749-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P31749-1.170.170", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.158.158", "start_pos": 158, "end_pos": 158, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs926237915", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs926237915", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs926237915", "url": "https://www.ensembl.org/id/rs926237915", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LAKPKHRVTMNEFEYLKLLG", "down_seq": "GTFGKVILVKEKATGRYYAM", "snv": [ { "evidence": [ { "id": "rs926237915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs926237915" }, { "id": "rs926237915", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs926237915" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KGT->NGT).", "chr_id": "14", "chr_pos": "104775169", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K158", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "P31749-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P31749-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P31749-1.172.172", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P31749-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P31749-1.176.176", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.170.170", "start_pos": 170, "end_pos": 170, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs774284624", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774284624", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774284624", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774284624", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774284624", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774284624#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs774284624", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774284624", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "FEYLKLLGKGTFGKVILVKE", "down_seq": "ATGRYYAMKILKKEVIVAKD", "snv": [ { "evidence": [ { "id": "rs774284624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774284624" }, { "id": "rs774284624", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774284624" }, { "id": "rs774284624", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774284624#frequency_tab" }, { "id": "rs774284624", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774284624" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KAT->NAT).", "chr_id": "14", "chr_pos": "104775133", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K170", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P31749-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P31749-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P31749-1.172.172", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P31749-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P31749-1.176.176", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P31749-1.179.179", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.174.174", "start_pos": 174, "end_pos": 174, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P31749", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KLLGKGTFGKVILVKEKATG", "down_seq": "YYAMKILKKEVIVAKDEVAH", "snv": [ { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "104775122", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R174", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P31749-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P31749-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P31749-1.172.172", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P31749-1.176.176", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P31749-1.179.179", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.19.19", "start_pos": 19, "end_pos": 19, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2140949932", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140949932", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2140949932", "url": "https://www.ensembl.org/id/rs2140949932", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "MSDVAIVKEGWLHKRGEY", "down_seq": "KTWRPRYFLLKNDGTFIGYK", "snv": [ { "evidence": [ { "id": "rs2140949932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140949932" }, { "id": "rs2140949932", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2140949932" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IKT->NKT).", "chr_id": "14", "chr_pos": "104780207", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I19", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P31749-1.0.0", "categories": [ "biomarkers_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P31749-1.2.2", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P31749-1.8.8", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P31749-1.14.14", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P31749-1.17.17", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P31749-1.20.20", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P31749-1.25.25", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P31749-1.26.26", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P31749-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P31749-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P31749-1.34.34", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.206.206", "start_pos": 206, "end_pos": 206, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2140915314", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140915314", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2140915314", "url": "https://www.ensembl.org/id/rs2140915314", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IVAKDEVAHTLTENRVLQNS", "down_seq": "HPFLTALKYSFQTHDRLCFV", "snv": [ { "evidence": [ { "id": "rs2140915314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140915314" }, { "id": "rs2140915314", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2140915314" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSR->NSS).", "chr_id": "14", "chr_pos": "104774953", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.00235479", "site_lbl": "R206", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "P31749-1.211.211", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P31749-1.216.216", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P31749-1.222.222", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.211.211", "start_pos": 211, "end_pos": 211, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Rosuvastatin-regulated post-translational phosphoproteome in human umbilical vein endothelial cells.", "journal": "The Kaohsiung journal of medical sciences", "date": "2013", "authors": "Huang B, Wu CH, Li FA, Liang SS, Shieh YH, Wang LD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23768697", "url": "https://glygen.org/publication/PubMed/23768697" } ] } ], "crossref": [ { "id": "P31749", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "23768697", "url": "https://glygen.org/publication/PubMed/23768697", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EVAHTLTENRVLQNSRHPFL", "down_seq": "ALKYSFQTHDRLCFVMEYAN", "snv": [ { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "104774939", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T211", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "23768697", "url": "https://glygen.org/publication/PubMed/23768697" } ], "site_lbl": "Thr211" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "P31749-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P31749-1.216.216", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P31749-1.222.222", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.222.222", "start_pos": 222, "end_pos": 222, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P31749", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LQNSRHPFLTALKYSFQTHD", "down_seq": "LCFVMEYANGGELFFHLSRE", "snv": [ { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "104773949", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R222", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P31749-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P31749-1.211.211", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P31749-1.216.216", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P31749-1.232.232", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.232.232", "start_pos": 232, "end_pos": 232, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P31749", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "ALKYSFQTHDRLCFVMEYAN", "down_seq": "GELFFHLSRERVFSEDRARF", "snv": [ { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "104773920", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G232", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P31749-1.216.216", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P31749-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P31749-1.246.246", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.323.323", "start_pos": 323, "end_pos": 323, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P31749", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GATMKTFCGTPEYLAPEVLE", "down_seq": "NDYGRAVDWWGLGVVMYEMM", "snv": [ { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "14", "chr_pos": "104773082", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D323", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "104773083", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D323", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P31749-1.305.305", "categories": [ "glycosylation_flag", "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P31749-1.308.308", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P31749-1.312.312", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P31749-1.315.315", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P31749-1.326.326", "categories": [ "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.326.326", "start_pos": 326, "end_pos": 326, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Regulation of Akt/PKB activation by tyrosine phosphorylation.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Chen R, Kim O, Yang J, Sato K, Eisenmann KM, McCarthy J, Chen H, Qiu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "11445557", "url": "https://glygen.org/publication/PubMed/11445557" } ] }, { "title": "Protein tyrosine kinase 6 directly phosphorylates AKT and promotes AKT activation in response to epidermal growth factor.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Zheng Y, Peng M, Wang Z, Asara JM, Tyner AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8849469", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8849469" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20606012", "url": "https://glygen.org/publication/PubMed/20606012" } ] }, { "title": "The endosomal adaptor protein APPL1 impairs the turnover of leading edge adhesions to regulate cell migration.", "journal": "Molecular biology of the cell", "date": "2012", "authors": "Broussard JA, Lin WH, Majumdar D, Anderson B, Eason B, Brown CM, Webb DJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22379109", "url": "https://glygen.org/publication/PubMed/22379109" } ] }, { "title": "A novel angiogenesis inhibitor impairs lovo cell survival via targeting against human VEGFR and its signaling pathway of phosphorylation.", "journal": "Cell death & disease", "date": "2012", "authors": "Zhang YM, Dai BL, Zheng L, Zhan YZ, Zhang J, Smith WW, Wang XL, Chen YN, He LC", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23059825", "url": "https://glygen.org/publication/PubMed/23059825" } ] }, { "title": "Impact of Enhanced Production of Endogenous Heme Oxygenase-1 by Pitavastatin on Survival and Functional Activities of Bone Marrow-derived Mesenchymal Stem Cells.", "journal": "Journal of cardiovascular pharmacology", "date": "2015-06", "authors": "Kawashiri Masa-Aki, Nakanishi Chiaki, Tsubokawa Toshinari, Shimojima Masaya, Yoshida Shohei, Yoshimuta Tsuyoshi, Konno Tetsuo, Yamagishi Masakazu, Hayashi Kenshi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25714596", "url": "https://glygen.org/publication/PubMed/25714596" } ] }, { "title": "Posttranslational modification of E-cadherin by core fucosylation regulates Src activation and induces epithelial-mesenchymal transition-like process in lung cancer cells.", "journal": "Glycobiology", "date": "2016", "authors": "Shao K, Chen ZY, Gautam S, Deng NH, Zhou Y, Wu XZ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26443198", "url": "https://glygen.org/publication/PubMed/26443198" } ] } ], "crossref": [ { "id": "rs2140902846", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140902846", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2140902846", "url": "https://www.ensembl.org/id/rs2140902846", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "11445557", "url": "https://glygen.org/publication/PubMed/11445557", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20606012", "url": "https://glygen.org/publication/PubMed/20606012", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P31749", "database": "PRO", "categories": [ "Other" ] }, { "id": "22379109", "url": "https://glygen.org/publication/PubMed/22379109", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23059825", "url": "https://glygen.org/publication/PubMed/23059825", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25714596", "url": "https://glygen.org/publication/PubMed/25714596", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26443198", "url": "https://glygen.org/publication/PubMed/26443198", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "MKTFCGTPEYLAPEVLEDND", "down_seq": "GRAVDWWGLGVVMYEMMCGR", "snv": [ { "evidence": [ { "id": "rs2140902846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140902846" }, { "id": "rs2140902846", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2140902846" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDY->NDC).", "chr_id": "14", "chr_pos": "104773073", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y326", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2140902846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140902846" }, { "id": "rs2140902846", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2140902846" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDY->NDS).", "chr_id": "14", "chr_pos": "104773073", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y326", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P12931-1", "kinase_gene_name": "SRC", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "11445557", "url": "https://glygen.org/publication/PubMed/11445557" } ], "site_lbl": "Tyr326" }, { "kinase_uniprot_canonical_ac": "Q13882-1", "kinase_gene_name": "PTK6", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "20606012", "url": "https://glygen.org/publication/PubMed/20606012" } ], "site_lbl": "Tyr326" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "PRO", "id": "P31749", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "22379109", "url": "https://glygen.org/publication/PubMed/22379109" }, { "database": "PubMed", "id": "23059825", "url": "https://glygen.org/publication/PubMed/23059825" }, { "database": "PubMed", "id": "25714596", "url": "https://glygen.org/publication/PubMed/25714596" }, { "database": "PubMed", "id": "26443198", "url": "https://glygen.org/publication/PubMed/26443198" } ], "site_lbl": "Tyr326" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P31749-1.308.308", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P31749-1.312.312", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P31749-1.315.315", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P31749-1.323.323", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.32.32", "start_pos": 32, "end_pos": 32, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2140949504", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140949504", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2140949504", "url": "https://www.ensembl.org/id/rs2140949504", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2140949504", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2140949504", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LHKRGEYIKTWRPRYFLLKN", "down_seq": "GTFIGYKERPQDVDQREAPL", "snv": [ { "evidence": [ { "id": "rs2140949504", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140949504" }, { "id": "rs2140949504", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2140949504" }, { "id": "rs2140949504", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2140949504" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "14", "chr_pos": "104780169", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D32", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P31749-1.14.14", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P31749-1.17.17", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P31749-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P31749-1.20.20", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P31749-1.25.25", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P31749-1.26.26", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P31749-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P31749-1.34.34", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P31749-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P31749-1.52.52", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.33.33", "start_pos": 33, "end_pos": 33, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2140949468", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140949468", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2140949468", "url": "https://www.ensembl.org/id/rs2140949468", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "HKRGEYIKTWRPRYFLLKND", "down_seq": "TFIGYKERPQDVDQREAPLN", "snv": [ { "evidence": [ { "id": "rs2140949468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140949468" }, { "id": "rs2140949468", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2140949468" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDG->NDC).", "chr_id": "14", "chr_pos": "104780166", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G33", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "104780165", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G33", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2140949468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140949468" }, { "id": "rs2140949468", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2140949468" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDG->NDS).", "chr_id": "14", "chr_pos": "104780166", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G33", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P31749-1.14.14", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P31749-1.17.17", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P31749-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P31749-1.20.20", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P31749-1.25.25", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P31749-1.26.26", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P31749-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P31749-1.34.34", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P31749-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P31749-1.52.52", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.40.40", "start_pos": 40, "end_pos": 40, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P31749", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "KTWRPRYFLLKNDGTFIGYK", "down_seq": "RPQDVDQREAPLNNFSVAQC", "snv": [ { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "14", "chr_pos": "104780145", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E40", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P31749-1.20.20", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P31749-1.25.25", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P31749-1.26.26", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P31749-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P31749-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P31749-1.34.34", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P31749-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P31749-1.58.58", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.433.433", "start_pos": 433, "end_pos": 433, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2542103488", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2542103488", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "WQHVYEKKLSPPFKPQVTSE", "down_seq": "DTRYFDEEFTAQMITITPPD", "snv": [ { "evidence": [ { "id": "rs2542103488", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2542103488" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TDT->NDT).", "chr_id": "14", "chr_pos": "104770810", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T433", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P31749-1.431.431", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P31749-1.435.435", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P31749-1.448.448", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P31749-1.450.450", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.475.475", "start_pos": 475, "end_pos": 475, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crocetinic acid inhibits hedgehog signaling to inhibit pancreatic cancer stem cells.", "journal": "Oncotarget", "date": "2015", "authors": "Rangarajan P, Subramaniam D, Paul S, Kwatra D, Palaniyandi K, Islam S, Harihar S, Ramalingam S, Gutheil W, Putty S, Pradhan R, Padhye S, Welch DR, Anant S, Dhar A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26317547", "url": "https://glygen.org/publication/PubMed/26317547" } ] }, { "title": "Pictilisib Enhances the Antitumor Effect of Doxorubicin and Prevents Tumor-Mediated Bone Destruction by Blockade of PI3K/AKT Pathway.", "journal": "Frontiers in oncology", "date": "2020", "authors": "Liang Chao, Yu Xijiao, Xiong Naping, Zhang Zhichang, Sun Zhenyu, Dong Yang", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33659212", "url": "https://glygen.org/publication/PubMed/33659212" } ] } ], "crossref": [ { "id": "P31749", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "26317547", "url": "https://glygen.org/publication/PubMed/26317547", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33659212", "url": "https://glygen.org/publication/PubMed/33659212", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DDSMECVDSERRPHFPQFSY", "down_seq": "ASGTA", "snv": [ { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "104770360", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S475", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "26317547", "url": "https://glygen.org/publication/PubMed/26317547" }, { "database": "PubMed", "id": "33659212", "url": "https://glygen.org/publication/PubMed/33659212" } ], "site_lbl": "Ser475" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P31749-1.463.463", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P31749-1.473.473", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P31749-1.474.474", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P31749-1.477.477", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P31749-1.479.479", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.477.477", "start_pos": 477, "end_pos": 477, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "C-terminal AKT phosphorylation by CDK2-cyclin A or mTOR activates AKT.", "journal": "Cancer discovery", "date": "2014", "authors": "author information missing", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24795023", "url": "https://glygen.org/publication/PubMed/24795023" } ] }, { "title": "Phosphorylation of Akt at the C-terminal tail triggers Akt activation.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2014", "authors": "Liu P, Wang Z, Wei W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24933731", "url": "https://glygen.org/publication/PubMed/24933731" } ] }, { "title": "Two new competing pathways establish the threshold for cyclin-B-Cdk1 activation at the meiotic G2/M transition.", "journal": "Journal of cell science", "date": "2016", "authors": "Hiraoka D, Aono R, Hanada S, Okumura E, Kishimoto T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27390173", "url": "https://glygen.org/publication/PubMed/27390173" } ] }, { "title": "Quantitative Assessment of Liver Steatosis and Affected Pathways with Molecular Imaging and Proteomic Profiling.", "journal": "Scientific reports", "date": "2018", "authors": "Urasaki Y, Zhang C, Cheng JX, Le TT", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29483581", "url": "https://glygen.org/publication/PubMed/29483581" } ] }, { "title": "Akt Kinase Activation Mechanisms Revealed Using Protein Semisynthesis.", "journal": "Cell", "date": "2018", "authors": "Chu N, Salguero AL, Liu AZ, Chen Z, Dempsey DR, Ficarro SB, Alexander WM, Marto JA, Li Y, Amzel LM, Gabelli SB, Cole PA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30078705", "url": "https://glygen.org/publication/PubMed/30078705" } ] }, { "title": "The structural determinants of PH domain-mediated regulation of Akt revealed by segmental labeling.", "journal": "eLife", "date": "2020-08-03", "authors": "Chu Nam, Viennet Thibault, Bae Hwan, Salguero Antonieta, Boeszoermenyi Andras, Arthanari Haribabu, Cole Philip A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32744507", "url": "https://glygen.org/publication/PubMed/32744507" } ] }, { "title": "Multifaceted Regulation of Akt by Diverse C-Terminal Post-translational Modifications.", "journal": "ACS chemical biology", "date": "2022-01-21", "authors": "Salguero Antonieta L, Chen Maggie, Balana Aaron T, Chu Nam, Jiang Hanjie, Palanski Brad A, Bae Hwan, Wright Katharine M, Nathan Sara, Zhu Heng, Gabelli Sandra B, Pratt Matthew R, Cole Philip A", "evidence": [ { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "34941261", "url": "https://glygen.org/publication/PubMed/34941261" } ] } ], "crossref": [ { "id": "rs1892308596", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1892308596", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1892308596", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1892308596#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1892308596", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1892308596", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "24795023", "url": "https://glygen.org/publication/PubMed/24795023", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24933731", "url": "https://glygen.org/publication/PubMed/24933731", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27390173", "url": "https://glygen.org/publication/PubMed/27390173", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29483581", "url": "https://glygen.org/publication/PubMed/29483581", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30078705", "url": "https://glygen.org/publication/PubMed/30078705", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32744507", "url": "https://glygen.org/publication/PubMed/32744507", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34941261", "url": "https://glygen.org/publication/PubMed/34941261", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SMECVDSERRPHFPQFSYSA", "down_seq": "GTA", "snv": [ { "evidence": [ { "id": "rs1892308596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1892308596" }, { "id": "rs1892308596", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1892308596#frequency_tab" }, { "id": "rs1892308596", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1892308596" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SGT->NGT).", "chr_id": "14", "chr_pos": "104770354", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S477", "keywords": [ "ebi", "somatic" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CDK2 and MTOR", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "24795023", "url": "https://glygen.org/publication/PubMed/24795023" }, { "database": "PubMed", "id": "24933731", "url": "https://glygen.org/publication/PubMed/24933731" }, { "database": "PubMed", "id": "27390173", "url": "https://glygen.org/publication/PubMed/27390173" }, { "database": "PubMed", "id": "29483581", "url": "https://glygen.org/publication/PubMed/29483581" }, { "database": "PubMed", "id": "30078705", "url": "https://glygen.org/publication/PubMed/30078705" }, { "database": "PubMed", "id": "32744507", "url": "https://glygen.org/publication/PubMed/32744507" }, { "database": "PubMed", "id": "34941261", "url": "https://glygen.org/publication/PubMed/34941261" } ], "site_lbl": "Ser477" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P31749-1.463.463", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P31749-1.473.473", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P31749-1.474.474", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P31749-1.475.475", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P31749-1.479.479", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.52.52", "start_pos": 52, "end_pos": 52, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P31749", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "DGTFIGYKERPQDVDQREAP", "down_seq": "NNFSVAQCQLMKTERPRPNT", "snv": [ { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "104780108", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L52", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (7).", "chr_id": "14", "chr_pos": "104780108", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L52", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P31749-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P31749-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P31749-1.34.34", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P31749-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P31749-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P31749-1.72.72", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.58.58", "start_pos": 58, "end_pos": 58, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P31749", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "YKERPQDVDQREAPLNNFSV", "down_seq": "QCQLMKTERPRPNTFIIRCL", "snv": [ { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "104780090", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A58", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P31749-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P31749-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P31749-1.72.72", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P31749-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P31749-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P31749-1.76.78", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.73.73", "start_pos": 73, "end_pos": 73, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2140930531", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140930531", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2140930531", "url": "https://www.ensembl.org/id/rs2140930531", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "NNFSVAQCQLMKTERPRPNT", "down_seq": "IIRCLQWTTVIERTFHVETP", "snv": [ { "evidence": [ { "id": "rs2140930531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140930531" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTF->NTC).", "chr_id": "14", "chr_pos": "104776728", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F73", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2140930531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140930531" }, { "id": "rs2140930531", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2140930531" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTF->NTS).", "chr_id": "14", "chr_pos": "104776728", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F73", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P31749-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P31749-1.72.72", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P31749-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P31749-1.76.78", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P31749-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P31749-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P31749-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P31749-1.86.86", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.75.75", "start_pos": 75, "end_pos": 75, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2140930425", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140930425", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2140930425", "url": "https://www.ensembl.org/id/rs2140930425", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "FSVAQCQLMKTERPRPNTFI", "down_seq": "RCLQWTTVIERTFHVETPEE", "snv": [ { "evidence": [ { "id": "rs2140930425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140930425" }, { "id": "rs2140930425", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2140930425" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IRC->NRC).", "chr_id": "14", "chr_pos": "104776722", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I75", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P31749-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P31749-1.72.72", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P31749-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P31749-1.76.78", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P31749-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P31749-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P31749-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P31749-1.86.86", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.79.79", "start_pos": 79, "end_pos": 79, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P31749", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "QCQLMKTERPRPNTFIIRCL", "down_seq": "WTTVIERTFHVETPEEREEW", "snv": [ { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "3", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "14", "chr_pos": "104776711", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q79", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "P31749-1.72.72", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P31749-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P31749-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P31749-1.76.78", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P31749-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P31749-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P31749-1.86.86", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.85.85", "start_pos": 85, "end_pos": 85, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P31749", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "TERPRPNTFIIRCLQWTTVI", "down_seq": "RTFHVETPEEREEWTTAIQT", "snv": [ { "evidence": [ { "id": "P31749", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P31749" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "14", "chr_pos": "104776693", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E85", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P31749-1.72.72", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P31749-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P31749-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P31749-1.76.78", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P31749-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P31749-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P31749-1.86.86", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P31749-1.122.122", "start_pos": 122, "end_pos": 122, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] } ], "crossref": [ { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AIQTVADGLKKQEEEEMDFR", "down_seq": "GSPSDNSGAEEMEVSLAKPK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser122" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P31749-1.124.124", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P31749-1.126.126", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P31749-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P31749-1.129.129", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.124.124", "start_pos": 124, "end_pos": 124, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Direct identification of tyrosine 474 as a regulatory phosphorylation site for the Akt protein kinase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Conus NM, Hannan KM, Cristiano BE, Hemmings BA, Pearson RB", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "12149249", "url": "https://glygen.org/publication/PubMed/12149249" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Par-4 inhibits Akt and suppresses Ras-induced lung tumorigenesis.", "journal": "The EMBO journal", "date": "2008-08-20", "authors": "Joshi Jayashree, Fernandez-Marcos Pablo J, Galvez Anita, Amanchy Ramars, Linares Juan F, Duran Angeles, Pathrose Peterson, Leitges Michael, Ca\u00f1amero Marta, Collado Manuel, Salas Clara, Serrano Manuel, Moscat Jorge, Diaz-Meco Maria T", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18650932", "url": "https://glygen.org/publication/PubMed/18650932" } ] }, { "title": "The serum protein profile of early parity which induces protection against breast cancer.", "journal": "Oncotarget", "date": "2016", "authors": "Bracamontes CG, Lopez-Valdez R, Subramani R, Arumugam A, Nandy S, Rajamanickam V, Ravichandran V, Lakshmanaswamy R", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27769065", "url": "https://glygen.org/publication/PubMed/27769065" } ] } ], "crossref": [ { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "12149249", "url": "https://glygen.org/publication/PubMed/12149249", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://www.ebi.ac.uk/intact/interactors/id:P31749*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "18650932", "url": "https://glygen.org/publication/PubMed/18650932", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27769065", "url": "https://glygen.org/publication/PubMed/27769065", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QTVADGLKKQEEEEMDFRSG", "down_seq": "PSDNSGAEEMEVSLAKPKHR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "12149249", "url": "https://glygen.org/publication/PubMed/12149249" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "IntAct", "id": "P31749", "url": "https://www.ebi.ac.uk/intact/interactors/id:P31749*" }, { "database": "PubMed", "id": "18650932", "url": "https://glygen.org/publication/PubMed/18650932" }, { "database": "PubMed", "id": "27769065", "url": "https://glygen.org/publication/PubMed/27769065" } ], "site_lbl": "Ser124" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P31749-1.122.122", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P31749-1.126.126", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P31749-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P31749-1.129.129", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.172.172", "start_pos": 172, "end_pos": 172, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Role of phosphatase activity of soluble epoxide hydrolase in regulating simvastatin-activated endothelial nitric oxide synthase.", "journal": "Scientific reports", "date": "2015", "authors": "Hou HH, Liao YJ, Hsiao SH, Shyue SK, Lee TS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26304753", "url": "https://glygen.org/publication/PubMed/26304753" } ] }, { "title": "The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS).", "journal": "Oncotarget", "date": "2017", "authors": "Suzuki Y, Enokido Y, Yamada K, Inaba M, Kuwata K, Hanada N, Morishita T, Mizuno S, Wakamatsu N", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28525374", "url": "https://glygen.org/publication/PubMed/28525374" } ] }, { "title": "Differential endothelial signaling responses elicited by chemogenetic H2O2 synthesis.", "journal": "Redox biology", "date": "2020-09", "authors": "Saeedi Saravi Seyed Soheil, Eroglu Emrah, Waldeck-Weiermair Markus, Sorrentino Andrea, Steinhorn Benjamin, Belousov Vselovod, Michel Thomas", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32590330", "url": "https://glygen.org/publication/PubMed/32590330" } ] } ], "crossref": [ { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "26304753", "url": "https://glygen.org/publication/PubMed/26304753", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28525374", "url": "https://glygen.org/publication/PubMed/28525374", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32590330", "url": "https://glygen.org/publication/PubMed/32590330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "YLKLLGKGTFGKVILVKEKA", "down_seq": "GRYYAMKILKKEVIVAKDEV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "26304753", "url": "https://glygen.org/publication/PubMed/26304753" }, { "database": "PubMed", "id": "28525374", "url": "https://glygen.org/publication/PubMed/28525374" }, { "database": "PubMed", "id": "32590330", "url": "https://glygen.org/publication/PubMed/32590330" } ], "site_lbl": "Thr172" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P31749-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P31749-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P31749-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P31749-1.176.176", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P31749-1.179.179", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.216.216", "start_pos": 216, "end_pos": 216, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphorylation of transglutaminase 2 (TG2) at serine-216 has a role in TG2 mediated activation of nuclear factor-kappa B and in the downregulation of PTEN.", "journal": "BMC cancer", "date": "2012", "authors": "Wang Y, Ande SR, Mishra S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22759359", "url": "https://glygen.org/publication/PubMed/22759359" } ] } ], "crossref": [ { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "22759359", "url": "https://glygen.org/publication/PubMed/22759359", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LTENRVLQNSRHPFLTALKY", "down_seq": "FQTHDRLCFVMEYANGGELF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "22759359", "url": "https://glygen.org/publication/PubMed/22759359" } ], "site_lbl": "Ser216" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "P31749-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P31749-1.211.211", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P31749-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P31749-1.232.232", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.246.246", "start_pos": 246, "end_pos": 246, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Autophosphorylation of Akt at threonine 72 and serine 246. A potential mechanism of regulation of Akt kinase activity.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Li X, Lu Y, Jin W, Liang K, Mills GB, Fan Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16549426", "url": "https://glygen.org/publication/PubMed/16549426" } ] } ], "crossref": [ { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "16549426", "url": "https://glygen.org/publication/PubMed/16549426", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P31749", "database": "PRO", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VMEYANGGELFFHLSRERVF", "down_seq": "EDRARFYGAEIVSALDYLHS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P31749-1", "kinase_gene_name": "AKT1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "16549426", "url": "https://glygen.org/publication/PubMed/16549426" } ], "site_lbl": "Ser246" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "PRO", "id": "P31749", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "16549426", "url": "https://glygen.org/publication/PubMed/16549426" } ], "site_lbl": "Ser246" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P31749-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P31749-1.259.259", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.259.259", "start_pos": 259, "end_pos": 259, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Akt inactivates ERK causing decreased response to chemotherapeutic drugs in advanced CaP cells.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2008", "authors": "Lee JT, Steelman LS, Chappell WH, McCubrey JA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18256541", "url": "https://glygen.org/publication/PubMed/18256541" } ] } ], "crossref": [ { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18256541", "url": "https://glygen.org/publication/PubMed/18256541", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LSRERVFSEDRARFYGAEIV", "down_seq": "ALDYLHSEKNVVYRDLKLEN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "18256541", "url": "https://glygen.org/publication/PubMed/18256541" } ], "site_lbl": "Ser259" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P31749-1.246.246", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P31749-1.273.275", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.26.26", "start_pos": 26, "end_pos": 26, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "MERTK mediated novel site Akt phosphorylation alleviates SAV1 suppression.", "journal": "Nature communications", "date": "2019", "authors": "Jiang Y, Zhang Y, Leung JY, Fan C, Popov KI, Su S, Qian J, Wang X, Holtzhausen A, Ubil E, Xiang Y, Davis I, Dokholyan NV, Wu G, Perou CM, Kim WY, Earp HS, Liu P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30944303", "url": "https://glygen.org/publication/PubMed/30944303" } ] } ], "crossref": [ { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "30944303", "url": "https://glygen.org/publication/PubMed/30944303", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "IVKEGWLHKRGEYIKTWRPR", "down_seq": "FLLKNDGTFIGYKERPQDVD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "30944303", "url": "https://glygen.org/publication/PubMed/30944303" } ], "site_lbl": "Tyr26" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P31749-1.8.8", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P31749-1.14.14", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P31749-1.17.17", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P31749-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P31749-1.20.20", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P31749-1.25.25", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P31749-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P31749-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P31749-1.34.34", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P31749-1.40.40", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.291.291", "start_pos": 291, "end_pos": 291, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Rosuvastatin-regulated post-translational phosphoproteome in human umbilical vein endothelial cells.", "journal": "The Kaohsiung journal of medical sciences", "date": "2013", "authors": "Huang B, Wu CH, Li FA, Liang SS, Shieh YH, Wang LD", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23768697", "url": "https://glygen.org/publication/PubMed/23768697" } ] } ], "crossref": [ { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "23768697", "url": "https://glygen.org/publication/PubMed/23768697", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VYRDLKLENLMLDKDGHIKI", "down_seq": "DFGLCKEGIKDGATMKTFCG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "23768697", "url": "https://glygen.org/publication/PubMed/23768697" } ], "site_lbl": "Thr291" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P31749-1.273.275", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P31749-1.305.305", "categories": [ "glycosylation_flag", "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P31749-1.308.308", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.2.2", "start_pos": 2, "end_pos": 2, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deregulated expression of TANK in glioblastomas triggers pro-tumorigenic ERK1/2 and AKT signaling pathways.", "journal": "Oncogenesis", "date": "2013-11-11", "authors": "Stellzig J, Chariot A, Shostak K, Ismail G\u00f6ktuna S, Renner F, Acker T, Pagenstecher A, Schmitz M L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24217713", "url": "https://glygen.org/publication/PubMed/24217713" } ] }, { "title": "Phosphorylation by Akt within the ST loop of AMPK-alpha1 down-regulates its activation in tumour cells.", "journal": "The Biochemical journal", "date": "2014", "authors": "Hawley SA, Ross FA, Gowans GJ, Tibarewal P, Leslie NR, Hardie DG", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24467442", "url": "https://glygen.org/publication/PubMed/24467442" } ] }, { "title": "GIMAP5 Deficiency Is Associated with Increased AKT Activity in T Lymphocytes.", "journal": "PloS one", "date": "2015", "authors": "Chen XL, Serrano D, Mayhue M, Hoebe K, Ilangumaran S, Ramanathan S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26440416", "url": "https://glygen.org/publication/PubMed/26440416" } ] }, { "title": "High expression of DJ-1 promotes growth and invasion via the PTEN-AKT pathway and predicts a poor prognosis in colorectal cancer.", "journal": "Cancer medicine", "date": "2018-03", "authors": "Lin Yong, Chen Qian, Liu Quan-Xing, Zhou Dong, Lu Xiao, Deng Xu-Feng, Yang Hua, Zheng Hong, Qiu Yuan", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29441725", "url": "https://glygen.org/publication/PubMed/29441725" } ] } ], "crossref": [ { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "24217713", "url": "https://glygen.org/publication/PubMed/24217713", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24467442", "url": "https://glygen.org/publication/PubMed/24467442", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26440416", "url": "https://glygen.org/publication/PubMed/26440416", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29441725", "url": "https://glygen.org/publication/PubMed/29441725", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "M", "down_seq": "DVAIVKEGWLHKRGEYIKTW", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "24217713", "url": "https://glygen.org/publication/PubMed/24217713" }, { "database": "PubMed", "id": "24467442", "url": "https://glygen.org/publication/PubMed/24467442" }, { "database": "PubMed", "id": "26440416", "url": "https://glygen.org/publication/PubMed/26440416" }, { "database": "PubMed", "id": "29441725", "url": "https://glygen.org/publication/PubMed/29441725" } ], "site_lbl": "Ser2" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P31749-1.0.0", "categories": [ "biomarkers_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P31749-1.8.8", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P31749-1.14.14", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P31749-1.17.17", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P31749-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P31749-1.20.20", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.315.315", "start_pos": 315, "end_pos": 315, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Regulation of protein kinase B tyrosine phosphorylation by thyroid-specific oncogenic RET/PTC kinases.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2005", "authors": "Jung HS, Kim DW, Jo YS, Chung HK, Song JH, Park JS, Park KC, Park SH, Hwang JH, Jo KW, Shong M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "15994200", "url": "https://glygen.org/publication/PubMed/15994200" } ] }, { "title": "Regulation of Akt/PKB activation by tyrosine phosphorylation.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Chen R, Kim O, Yang J, Sato K, Eisenmann KM, McCarthy J, Chen H, Qiu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "11445557", "url": "https://glygen.org/publication/PubMed/11445557" } ] }, { "title": "Interaction between Src and a C-terminal proline-rich motif of Akt is required for Akt activation.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Jiang T, Qiu Y", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "12600984", "url": "https://glygen.org/publication/PubMed/12600984" } ] }, { "title": "Protein tyrosine kinase 6 directly phosphorylates AKT and promotes AKT activation in response to epidermal growth factor.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Zheng Y, Peng M, Wang Z, Asara JM, Tyner AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8849469", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8849469" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20606012", "url": "https://glygen.org/publication/PubMed/20606012" } ] }, { "title": "The endosomal adaptor protein APPL1 impairs the turnover of leading edge adhesions to regulate cell migration.", "journal": "Molecular biology of the cell", "date": "2012", "authors": "Broussard JA, Lin WH, Majumdar D, Anderson B, Eason B, Brown CM, Webb DJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22379109", "url": "https://glygen.org/publication/PubMed/22379109" } ] }, { "title": "Impact of Enhanced Production of Endogenous Heme Oxygenase-1 by Pitavastatin on Survival and Functional Activities of Bone Marrow-derived Mesenchymal Stem Cells.", "journal": "Journal of cardiovascular pharmacology", "date": "2015-06", "authors": "Kawashiri Masa-Aki, Nakanishi Chiaki, Tsubokawa Toshinari, Shimojima Masaya, Yoshida Shohei, Yoshimuta Tsuyoshi, Konno Tetsuo, Yamagishi Masakazu, Hayashi Kenshi", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25714596", "url": "https://glygen.org/publication/PubMed/25714596" } ] }, { "title": "Posttranslational modification of E-cadherin by core fucosylation regulates Src activation and induces epithelial-mesenchymal transition-like process in lung cancer cells.", "journal": "Glycobiology", "date": "2016", "authors": "Shao K, Chen ZY, Gautam S, Deng NH, Zhou Y, Wu XZ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26443198", "url": "https://glygen.org/publication/PubMed/26443198" } ] } ], "crossref": [ { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15994200", "url": "https://glygen.org/publication/PubMed/15994200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "11445557", "url": "https://glygen.org/publication/PubMed/11445557", "database": "PubMed", "categories": [ "Other" ] }, { "id": "12600984", "url": "https://glygen.org/publication/PubMed/12600984", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20606012", "url": "https://glygen.org/publication/PubMed/20606012", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P31749", "database": "PRO", "categories": [ "Other" ] }, { "id": "22379109", "url": "https://glygen.org/publication/PubMed/22379109", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25714596", "url": "https://glygen.org/publication/PubMed/25714596", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26443198", "url": "https://glygen.org/publication/PubMed/26443198", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LCKEGIKDGATMKTFCGTPE", "down_seq": "LAPEVLEDNDYGRAVDWWGL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P07949-1", "kinase_gene_name": "RET", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "15994200", "url": "https://glygen.org/publication/PubMed/15994200" } ], "site_lbl": "Tyr315" }, { "kinase_uniprot_canonical_ac": "P12931-1", "kinase_gene_name": "SRC", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "11445557", "url": "https://glygen.org/publication/PubMed/11445557" }, { "database": "PubMed", "id": "12600984", "url": "https://glygen.org/publication/PubMed/12600984" } ], "site_lbl": "Tyr315" }, { "kinase_uniprot_canonical_ac": "Q13882-1", "kinase_gene_name": "PTK6", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "20606012", "url": "https://glygen.org/publication/PubMed/20606012" }, { "database": "PubMed", "id": "15994200", "url": "https://glygen.org/publication/PubMed/15994200" } ], "site_lbl": "Tyr315" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "PRO", "id": "P31749", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "12600984", "url": "https://glygen.org/publication/PubMed/12600984" }, { "database": "PubMed", "id": "22379109", "url": "https://glygen.org/publication/PubMed/22379109" }, { "database": "PubMed", "id": "25714596", "url": "https://glygen.org/publication/PubMed/25714596" }, { "database": "PubMed", "id": "26443198", "url": "https://glygen.org/publication/PubMed/26443198" } ], "site_lbl": "Tyr315" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "P31749-1.305.305", "categories": [ "glycosylation_flag", "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P31749-1.308.308", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P31749-1.312.312", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P31749-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P31749-1.326.326", "categories": [ "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.34.34", "start_pos": 34, "end_pos": 34, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Threonine 34 phosphorylation by phosphoinositide-dependent protein kinase 1 facilitates dissociation of Akt from the plasma membrane.", "journal": "The international journal of biochemistry & cell biology", "date": "2015", "authors": "Huang BX, Lee R, Akbar M, Kim HY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25912234", "url": "https://glygen.org/publication/PubMed/25912234" } ] }, { "title": "Ceramide disables 3-phosphoinositide binding to the pleckstrin homology domain of protein kinase B (PKB)/Akt by a PKCzeta-dependent mechanism.", "journal": "Molecular and cellular biology", "date": "2003", "authors": "Powell DJ, Hajduch E, Kular G, Hundal HS", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "14560023", "url": "https://glygen.org/publication/PubMed/14560023" } ] }, { "title": "Rictor regulates the vasculogenic mimicry of melanoma via the AKT-MMP-2/9 pathway.", "journal": "Journal of cellular and molecular medicine", "date": "2017-12", "authors": "Liang Xingmei, Sun Ran, Zhao Xiulan, Zhang Yanhui, Gu Qiang, Dong Xueyi, Zhang Danfang, Sun Junying, Sun Baocun", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28699701", "url": "https://glygen.org/publication/PubMed/28699701" } ] }, { "title": "The triacylglycerol, hydroxytriolein, inhibits triple negative mammary breast cancer cell proliferation through a mechanism dependent on dihydroceramide and Akt.", "journal": "Oncotarget", "date": "2019", "authors": "Guardiola-Serrano F, Beteta-Gobel R, Rodriguez-Lorca R, Ibarguren M, Lopez DJ, Teres S, Alonso-Sande M, Higuera M, Torres M, Busquets X, Escriba PV", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "31069012", "url": "https://glygen.org/publication/PubMed/31069012" } ] } ], "crossref": [ { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "25912234", "url": "https://glygen.org/publication/PubMed/25912234", "database": "PubMed", "categories": [ "Other" ] }, { "id": "14560023", "url": "https://glygen.org/publication/PubMed/14560023", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28699701", "url": "https://glygen.org/publication/PubMed/28699701", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31069012", "url": "https://glygen.org/publication/PubMed/31069012", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KRGEYIKTWRPRYFLLKNDG", "down_seq": "FIGYKERPQDVDQREAPLNN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "O15530-1", "kinase_gene_name": "PDPK1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "25912234", "url": "https://glygen.org/publication/PubMed/25912234" } ], "site_lbl": "Thr34" }, { "kinase_uniprot_canonical_ac": "Q05513-1", "kinase_gene_name": "PRKCZ", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "14560023", "url": "https://glygen.org/publication/PubMed/14560023" } ], "site_lbl": "Thr34" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "28699701", "url": "https://glygen.org/publication/PubMed/28699701" }, { "database": "PubMed", "id": "31069012", "url": "https://glygen.org/publication/PubMed/31069012" } ], "site_lbl": "Thr34" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P31749-1.14.14", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P31749-1.17.17", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P31749-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P31749-1.20.20", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P31749-1.25.25", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P31749-1.26.26", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P31749-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P31749-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P31749-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P31749-1.52.52", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.371.371", "start_pos": 371, "end_pos": 371, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deciphering the landscape of phosphorylated HLA-II ligands.", "journal": "iScience", "date": "2022-05-20", "authors": "Solleder Marthe, Racle Julien, Guillaume Philippe, Coukos George, Bassani-Sternberg Michal, Gfeller David", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ] } ], "crossref": [ { "id": "P31749", "url": "https://www.iedb.org/epitope/P31749", "database": "IEDB", "categories": [ "Other" ] }, { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "NQDHEKLFELILMEEIRFPR", "down_seq": "LGPEAKSLLSGLLKKDPKQR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "IEDB", "id": "P31749", "url": "https://www.iedb.org/epitope/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "35494241", "url": "https://glygen.org/publication/PubMed/35494241" } ], "site_lbl": "Thr371" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.431.431", "start_pos": 431, "end_pos": 431, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mechanisms of nordihydroguaiaretic acid-induced growth inhibition and apoptosis in human cancer cells.", "journal": "British journal of cancer", "date": "2002-04-08", "authors": "Seufferlein T, Seckl M J, Schwarz E, Beil M, v Wichert G, Baust H, L\u00fchrs H, Schmid R M, Adler G", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "11953870", "url": "https://glygen.org/publication/PubMed/11953870" } ] } ], "crossref": [ { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "11953870", "url": "https://glygen.org/publication/PubMed/11953870", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IVWQHVYEKKLSPPFKPQVT", "down_seq": "ETDTRYFDEEFTAQMITITP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "11953870", "url": "https://glygen.org/publication/PubMed/11953870" } ], "site_lbl": "Ser431" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P31749-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P31749-1.435.435", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P31749-1.448.448", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P31749-1.450.450", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.435.435", "start_pos": 435, "end_pos": 435, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphorylation of chemoattractant receptors regulates chemotaxis, actin reorganization and signal relay.", "journal": "Journal of cell science", "date": "2013", "authors": "Brzostowski JA, Sawai S, Rozov O, Liao XH, Imoto D, Parent CA, Kimmel AR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23902692", "url": "https://glygen.org/publication/PubMed/23902692" } ] } ], "crossref": [ { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "23902692", "url": "https://glygen.org/publication/PubMed/23902692", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "HVYEKKLSPPFKPQVTSETD", "down_seq": "RYFDEEFTAQMITITPPDQD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "23902692", "url": "https://glygen.org/publication/PubMed/23902692" } ], "site_lbl": "Thr435" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "P31749-1.431.431", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P31749-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P31749-1.448.448", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P31749-1.450.450", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.448.448", "start_pos": 448, "end_pos": 448, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QVTSETDTRYFDEEFTAQMI", "down_seq": "ITPPDQDDSMECVDSERRPH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "site_lbl": "Thr448" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P31749-1.431.431", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P31749-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P31749-1.435.435", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P31749-1.450.450", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P31749-1.463.463", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.450.450", "start_pos": 450, "end_pos": 450, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Direct identification of tyrosine 474 as a regulatory phosphorylation site for the Akt protein kinase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Conus NM, Hannan KM, Cristiano BE, Hemmings BA, Pearson RB", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749-1" } ], "reference": [ { "type": "PubMed", "id": "12149249", "url": "https://glygen.org/publication/PubMed/12149249" } ] }, { "title": "Protein phosphatase-1 regulates Akt1 signal transduction pathway to control gene expression, cell survival and differentiation.", "journal": "Cell death and differentiation", "date": "2010", "authors": "Xiao L, Gong LL, Yuan D, Deng M, Zeng XM, Chen LL, Zhang L, Yan Q, Liu JP, Hu XH, Sun SM, Liu J, Ma HL, Zheng CB, Fu H, Chen PC, Zhao JQ, Xie SS, Zou LJ, Xiao YM, Liu WB, Zhang J, Liu Y, Li DW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "20186153", "url": "https://glygen.org/publication/PubMed/20186153" } ] }, { "title": "mTORC2 can associate with ribosomes to promote cotranslational phosphorylation and stability of nascent Akt polypeptide.", "journal": "The EMBO journal", "date": "2010", "authors": "Oh WJ, Wu CC, Kim SJ, Facchinetti V, Julien LA, Finlan M, Roux PP, Su B, Jacinto E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21045808", "url": "https://glygen.org/publication/PubMed/21045808" } ] }, { "title": "Dual regulation of platelet protein kinase B.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Kroner C, Eybrechts K, Akkerman JW", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "10874027", "url": "https://glygen.org/publication/PubMed/10874027" } ] }, { "title": "SREBP activity is regulated by mTORC1 and contributes to Akt-dependent cell growth.", "journal": "Cell metabolism", "date": "2008", "authors": "Porstmann T, Santos CR, Griffiths B, Cully M, Wu M, Leevers S, Griffiths JR, Chung YL, Schulze A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "18762023", "url": "https://glygen.org/publication/PubMed/18762023" } ] }, { "title": "Active-site inhibitors of mTOR target rapamycin-resistant outputs of mTORC1 and mTORC2.", "journal": "PLoS biology", "date": "2009-02-10", "authors": "Feldman Morris E, Apsel Beth, Uotila Aino, Loewith Robbie, Knight Zachary A, Ruggero Davide, Shokat Kevan M", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19209957", "url": "https://glygen.org/publication/PubMed/19209957" } ] }, { "title": "Ku-0063794 is a specific inhibitor of the mammalian target of rapamycin (mTOR).", "journal": "The Biochemical journal", "date": "2009", "authors": "Garcia-Martinez JM, Moran J, Clarke RG, Gray A, Cosulich SC, Chresta CM, Alessi DR", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "19402821", "url": "https://glygen.org/publication/PubMed/19402821" } ] }, { "title": "AKT signalling in the failing heart.", "journal": "European journal of heart failure", "date": "2011", "authors": "Chaanine AH, Hajjar RJ", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "21724622", "url": "https://glygen.org/publication/PubMed/21724622" } ] }, { "title": "TGF-beta1 induces tissue factor expression in human lung fibroblasts in a PI3K/JNK/Akt-dependent and AP-1-dependent manner.", "journal": "American journal of respiratory cell and molecular biology", "date": "2012", "authors": "Wygrecka M, Zakrzewicz D, Taborski B, Didiasova M, Kwapiszewska G, Preissner KT, Markart P", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "22771387", "url": "https://glygen.org/publication/PubMed/22771387" } ] }, { "title": "Dynamic adipocyte phosphoproteome reveals that Akt directly regulates mTORC2.", "journal": "Cell metabolism", "date": "2013", "authors": "Humphrey SJ, Yang G, Yang P, Fazakerley DJ, Stockli J, Yang JY, James DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8876198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23684622", "url": "https://glygen.org/publication/PubMed/23684622" } ] }, { "title": "Modulation of the Akt pathway reveals a novel link with PERK/eIF2alpha, which is relevant during hypoxia.", "journal": "PloS one", "date": "2013", "authors": "Blaustein M, Perez-Munizaga D, Sanchez MA, Urrutia C, Grande A, Risso G, Srebrow A, Alfaro J, Colman-Lerner A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23922774", "url": "https://glygen.org/publication/PubMed/23922774" } ] }, { "title": "Autoregulation of the mechanistic target of rapamycin (mTOR) complex 2 integrity is controlled by an ATP-dependent mechanism.", "journal": "The Journal of biological chemistry", "date": "2013-09-20", "authors": "Chen Chien-Hung, Kiyan Vladimir, Zhylkibayev Assylbek A, Kazyken Dubek, Bulgakova Olga, Page Kent E, Bersimbaev Rakhmet I, Spooner Eric, Sarbassov Dos D", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "23928304", "url": "https://glygen.org/publication/PubMed/23928304" } ] }, { "title": "AKT inhibitors promote cell death in cervical cancer through disruption of mTOR signaling and glucose uptake.", "journal": "PloS one", "date": "2014", "authors": "Rashmi R, DeSelm C, Helms C, Bowcock A, Rogers BE, Rader JL, Grigsby PW, Schwarz JK", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24705275", "url": "https://glygen.org/publication/PubMed/24705275" } ] }, { "title": "Destabilization of akt promotes the death of myeloma cell lines.", "journal": "BioMed research international", "date": "2014", "authors": "Zhang Y, Fu Y, Zhang F, Liu J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "25243120", "url": "https://glygen.org/publication/PubMed/25243120" } ] }, { "title": "Cadmium Activates Multiple Signaling Pathways That Coordinately Stimulate Akt Activity to Enhance c-Myc mRNA Stability.", "journal": "PloS one", "date": "2016", "authors": "Tsai JS, Chao CH, Lin LY", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26751215", "url": "https://glygen.org/publication/PubMed/26751215" } ] }, { "title": "Resveratrol augments ER stress and the cytotoxic effects of glycolytic inhibition in neuroblastoma by downregulating Akt in a mechanism independent of SIRT1.", "journal": "Experimental & molecular medicine", "date": "2016", "authors": "Graham RM, Hernandez F, Puerta N, De Angulo G, Webster KA, Vanni S", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "26891914", "url": "https://glygen.org/publication/PubMed/26891914" } ] }, { "title": "PTEN negatively regulates mTORC2 formation and signaling in grade IV glioma via Rictor hyperphosphorylation at Thr1135 and direct the mode of action of an mTORC1/2 inhibitor.", "journal": "Oncogenesis", "date": "2016", "authors": "Bhattacharya K, Maiti S, Mandal C", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27239959", "url": "https://glygen.org/publication/PubMed/27239959" } ] }, { "title": "Bicyclol induces cell cycle arrest and autophagy in HepG2 human hepatocellular carcinoma cells through the PI3K/AKT and Ras/Raf/MEK/ERK pathways.", "journal": "BMC cancer", "date": "2016", "authors": "Wang Y, Nie H, Zhao X, Qin Y, Gong X", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "27654866", "url": "https://glygen.org/publication/PubMed/27654866" } ] }, { "title": "Localization of mTORC2 activity inside cells.", "journal": "The Journal of cell biology", "date": "2017", "authors": "Ebner M, Sinkovics B, Szczygiel M, Ribeiro DW, Yudushkin I", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "28143890", "url": "https://glygen.org/publication/PubMed/28143890" } ] }, { "title": "Increased expression of GATA zinc finger domain containing 1 through gene amplification promotes liver cancer by directly inducing phosphatase of regenerating liver 3.", "journal": "Hepatology (Baltimore, Md.)", "date": "2018", "authors": "Sun W, Zhang Y, Wong KC, Liu K, Yang Y, Wu B, Tong JHM, Chan AWH, Chan HLY, Yu J", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29266303", "url": "https://glygen.org/publication/PubMed/29266303" } ] }, { "title": "Conformational sampling of membranes by Akt controls its activation and inactivation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Lucic I, Rathinaswamy MK, Truebestein L, Hamelin DJ, Burke JE, Leonard TA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "29632185", "url": "https://glygen.org/publication/PubMed/29632185" } ] }, { "title": "Reduced menin expression impairs rapamycin effects as evidenced by an increase in mTORC2 signaling and cell migration.", "journal": "Cell communication and signaling : CCS", "date": "2018-10-01", "authors": "Razmara Masoud, Monazzam Azita, Skogseid Britt", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30285764", "url": "https://glygen.org/publication/PubMed/30285764" } ] }, { "title": "Notch Signaling Regulates Mitochondrial Metabolism and NF-kappaB Activity in Triple-Negative Breast Cancer Cells via IKKalpha-Dependent Non-canonical Pathways.", "journal": "Frontiers in oncology", "date": "2018", "authors": "Hossain F, Sorrentino C, Ucar DA, Peng Y, Matossian M, Wyczechowska D, Crabtree J, Zabaleta J, Morello S, Del Valle L, Burow M, Collins-Burow B, Pannuti A, Minter LM, Golde TE, Osborne BA, Miele L", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30564555", "url": "https://glygen.org/publication/PubMed/30564555" } ] }, { "title": "Unmasking a new prognostic marker and therapeutic target from the GDNF-RET/PIT1/p14ARF/p53 pathway in acromegaly.", "journal": "EBioMedicine", "date": "2019", "authors": "Chenlo M, Rodriguez-Gomez IA, Serramito R, Garcia-Rendueles AR, Villar-Taibo R, Fernandez-Rodriguez E, Perez-Romero S, Suarez-Farina M, Garcia-Allut A, Cabezas-Agricola JM, Rodriguez-Garcia J, Lear PV, Alvarez-San Martin RM, Alvarez-Escola C, Bernabeu I, Alvarez CV", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30975543", "url": "https://glygen.org/publication/PubMed/30975543" } ] }, { "title": "Akt Is S-Palmitoylated: A New Layer of Regulation for Akt.", "journal": "Frontiers in cell and developmental biology", "date": "2021", "authors": "Blaustein Mat\u00edas, Piegari Estefan\u00eda, Mart\u00ednez Calejman Camila, Vila Antonella, Amante Anal\u00eda, Manese Mar\u00eda Victoria, Zeida Ari, Abrami Laurence, Veggetti Mariela, Guertin David A, van der Goot F Gisou, Corvi Mar\u00eda Martha, Colman-Lerner Alejandro", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "33659252", "url": "https://glygen.org/publication/PubMed/33659252" } ] }, { "title": "Targeting Src-Hic-5 Signal Cascade for Preventing Migration of Cholangiocarcinoma Cell HuCCT1.", "journal": "Biomedicines", "date": "2022-04-28", "authors": "Wu Wen-Sheng, Ling Chin-Hsien, Lee Ming-Che, Cheng Chuan-Chu, Chen Rui-Fang, Lin Chen-Fang, You Ren-In, Chen Yen-Cheng", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "35625759", "url": "https://glygen.org/publication/PubMed/35625759" } ] }, { "title": "The RNA-binding protein AUF1 facilitates Akt phosphorylation at the membrane.", "journal": "The Journal of biological chemistry", "date": "2022-10", "authors": "Li Mei-Ling, Ragupathi Aparna, Patel Nikhil, Hernandez Tatiana, Magsino Jedrick, Werlen Guy, Brewer Gary, Jacinto Estela", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "36041631", "url": "https://glygen.org/publication/PubMed/36041631" } ] } ], "crossref": [ { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "12149249", "url": "https://glygen.org/publication/PubMed/12149249", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://www.ebi.ac.uk/intact/interactors/id:P31749*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "20186153", "url": "https://glygen.org/publication/PubMed/20186153", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21045808", "url": "https://glygen.org/publication/PubMed/21045808", "database": "PubMed", "categories": [ "Other" ] }, { "id": "10874027", "url": "https://glygen.org/publication/PubMed/10874027", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18762023", "url": "https://glygen.org/publication/PubMed/18762023", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19209957", "url": "https://glygen.org/publication/PubMed/19209957", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19402821", "url": "https://glygen.org/publication/PubMed/19402821", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21724622", "url": "https://glygen.org/publication/PubMed/21724622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22771387", "url": "https://glygen.org/publication/PubMed/22771387", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23684622", "url": "https://glygen.org/publication/PubMed/23684622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23922774", "url": "https://glygen.org/publication/PubMed/23922774", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23928304", "url": "https://glygen.org/publication/PubMed/23928304", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24705275", "url": "https://glygen.org/publication/PubMed/24705275", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25243120", "url": "https://glygen.org/publication/PubMed/25243120", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26751215", "url": "https://glygen.org/publication/PubMed/26751215", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26891914", "url": "https://glygen.org/publication/PubMed/26891914", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27239959", "url": "https://glygen.org/publication/PubMed/27239959", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27654866", "url": "https://glygen.org/publication/PubMed/27654866", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28143890", "url": "https://glygen.org/publication/PubMed/28143890", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29266303", "url": "https://glygen.org/publication/PubMed/29266303", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29632185", "url": "https://glygen.org/publication/PubMed/29632185", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30285764", "url": "https://glygen.org/publication/PubMed/30285764", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30564555", "url": "https://glygen.org/publication/PubMed/30564555", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30975543", "url": "https://glygen.org/publication/PubMed/30975543", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33659252", "url": "https://glygen.org/publication/PubMed/33659252", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35625759", "url": "https://glygen.org/publication/PubMed/35625759", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36041631", "url": "https://glygen.org/publication/PubMed/36041631", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TSETDTRYFDEEFTAQMITI", "down_seq": "PPDQDDSMECVDSERRPHFP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "12149249", "url": "https://glygen.org/publication/PubMed/12149249" }, { "database": "IntAct", "id": "P31749", "url": "https://www.ebi.ac.uk/intact/interactors/id:P31749*" }, { "database": "PubMed", "id": "20186153", "url": "https://glygen.org/publication/PubMed/20186153" }, { "database": "PubMed", "id": "21045808", "url": "https://glygen.org/publication/PubMed/21045808" }, { "database": "PubMed", "id": "10874027", "url": "https://glygen.org/publication/PubMed/10874027" }, { "database": "PubMed", "id": "18762023", "url": "https://glygen.org/publication/PubMed/18762023" }, { "database": "PubMed", "id": "19209957", "url": "https://glygen.org/publication/PubMed/19209957" }, { "database": "PubMed", "id": "19402821", "url": "https://glygen.org/publication/PubMed/19402821" }, { "database": "PubMed", "id": "21724622", "url": "https://glygen.org/publication/PubMed/21724622" }, { "database": "PubMed", "id": "22771387", "url": "https://glygen.org/publication/PubMed/22771387" }, { "database": "PubMed", "id": "23684622", "url": "https://glygen.org/publication/PubMed/23684622" }, { "database": "PubMed", "id": "23922774", "url": "https://glygen.org/publication/PubMed/23922774" }, { "database": "PubMed", "id": "23928304", "url": "https://glygen.org/publication/PubMed/23928304" }, { "database": "PubMed", "id": "24705275", "url": "https://glygen.org/publication/PubMed/24705275" }, { "database": "PubMed", "id": "25243120", "url": "https://glygen.org/publication/PubMed/25243120" }, { "database": "PubMed", "id": "26751215", "url": "https://glygen.org/publication/PubMed/26751215" }, { "database": "PubMed", "id": "26891914", "url": "https://glygen.org/publication/PubMed/26891914" }, { "database": "PubMed", "id": "27239959", "url": "https://glygen.org/publication/PubMed/27239959" }, { "database": "PubMed", "id": "27654866", "url": "https://glygen.org/publication/PubMed/27654866" }, { "database": "PubMed", "id": "28143890", "url": "https://glygen.org/publication/PubMed/28143890" }, { "database": "PubMed", "id": "29266303", "url": "https://glygen.org/publication/PubMed/29266303" }, { "database": "PubMed", "id": "29632185", "url": "https://glygen.org/publication/PubMed/29632185" }, { "database": "PubMed", "id": "30285764", "url": "https://glygen.org/publication/PubMed/30285764" }, { "database": "PubMed", "id": "30564555", "url": "https://glygen.org/publication/PubMed/30564555" }, { "database": "PubMed", "id": "30975543", "url": "https://glygen.org/publication/PubMed/30975543" }, { "database": "PubMed", "id": "33659252", "url": "https://glygen.org/publication/PubMed/33659252" }, { "database": "PubMed", "id": "35625759", "url": "https://glygen.org/publication/PubMed/35625759" }, { "database": "PubMed", "id": "36041631", "url": "https://glygen.org/publication/PubMed/36041631" } ], "site_lbl": "Thr450" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P31749-1.431.431", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P31749-1.433.433", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P31749-1.435.435", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P31749-1.448.448", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P31749-1.463.463", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 28 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.463.463", "start_pos": 463, "end_pos": 463, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Single-cell lineage analysis reveals genetic and epigenetic interplay in glioblastoma drug resistance.", "journal": "Genome biology", "date": "2020-07-15", "authors": "Eyler Christine E, Matsunaga Hironori, Hovestadt Volker, Vantine Samantha J, van Galen Peter, Bernstein Bradley E", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32669109", "url": "https://glygen.org/publication/PubMed/32669109" } ] } ], "crossref": [ { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "32669109", "url": "https://glygen.org/publication/PubMed/32669109", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TAQMITITPPDQDDSMECVD", "down_seq": "ERRPHFPQFSYSASGTA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "32669109", "url": "https://glygen.org/publication/PubMed/32669109" } ], "site_lbl": "Ser463" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P31749-1.448.448", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P31749-1.450.450", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P31749-1.473.473", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P31749-1.474.474", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P31749-1.475.475", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P31749-1.477.477", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P31749-1.479.479", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.479.479", "start_pos": 479, "end_pos": 479, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "C-terminal AKT phosphorylation by CDK2-cyclin A or mTOR activates AKT.", "journal": "Cancer discovery", "date": "2014", "authors": "author information missing", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24795023", "url": "https://glygen.org/publication/PubMed/24795023" } ] }, { "title": "Phosphorylation of Akt at the C-terminal tail triggers Akt activation.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2014", "authors": "Liu P, Wang Z, Wei W", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "24933731", "url": "https://glygen.org/publication/PubMed/24933731" } ] }, { "title": "Akt Kinase Activation Mechanisms Revealed Using Protein Semisynthesis.", "journal": "Cell", "date": "2018", "authors": "Chu N, Salguero AL, Liu AZ, Chen Z, Dempsey DR, Ficarro SB, Alexander WM, Marto JA, Li Y, Amzel LM, Gabelli SB, Cole PA", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "30078705", "url": "https://glygen.org/publication/PubMed/30078705" } ] }, { "title": "The structural determinants of PH domain-mediated regulation of Akt revealed by segmental labeling.", "journal": "eLife", "date": "2020-08-03", "authors": "Chu Nam, Viennet Thibault, Bae Hwan, Salguero Antonieta, Boeszoermenyi Andras, Arthanari Haribabu, Cole Philip A", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "32744507", "url": "https://glygen.org/publication/PubMed/32744507" } ] }, { "title": "Multifaceted Regulation of Akt by Diverse C-Terminal Post-translational Modifications.", "journal": "ACS chemical biology", "date": "2022-01-21", "authors": "Salguero Antonieta L, Chen Maggie, Balana Aaron T, Chu Nam, Jiang Hanjie, Palanski Brad A, Bae Hwan, Wright Katharine M, Nathan Sara, Zhu Heng, Gabelli Sandra B, Pratt Matthew R, Cole Philip A", "evidence": [ { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "34941261", "url": "https://glygen.org/publication/PubMed/34941261" } ] } ], "crossref": [ { "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "24795023", "url": "https://glygen.org/publication/PubMed/24795023", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24933731", "url": "https://glygen.org/publication/PubMed/24933731", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30078705", "url": "https://glygen.org/publication/PubMed/30078705", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32744507", "url": "https://glygen.org/publication/PubMed/32744507", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34941261", "url": "https://glygen.org/publication/PubMed/34941261", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ECVDSERRPHFPQFSYSASG", "down_seq": "", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by CDK2 and MTOR", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "24795023", "url": "https://glygen.org/publication/PubMed/24795023" }, { "database": "PubMed", "id": "24933731", "url": "https://glygen.org/publication/PubMed/24933731" }, { "database": "PubMed", "id": "30078705", "url": "https://glygen.org/publication/PubMed/30078705" }, { "database": "PubMed", "id": "32744507", "url": "https://glygen.org/publication/PubMed/32744507" }, { "database": "PubMed", "id": "34941261", "url": "https://glygen.org/publication/PubMed/34941261" } ], "site_lbl": "Thr479" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P31749-1.463.463", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P31749-1.473.473", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P31749-1.474.474", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P31749-1.475.475", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P31749-1.477.477", "categories": [ "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.72.72", "start_pos": 72, "end_pos": 72, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Autophosphorylation of Akt at threonine 72 and serine 246. A potential mechanism of regulation of Akt kinase activity.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Li X, Lu Y, Jin W, Liang K, Mills GB, Fan Z", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" } ], "reference": [ { "type": "PubMed", "id": "16549426", "url": "https://glygen.org/publication/PubMed/16549426" } ] } ], "crossref": [ { "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "16549426", "url": "https://glygen.org/publication/PubMed/16549426", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P31749", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P31749", "database": "PRO", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LNNFSVAQCQLMKTERPRPN", "down_seq": "FIIRCLQWTTVIERTFHVET", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P31749-1", "kinase_gene_name": "AKT1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "16549426", "url": "https://glygen.org/publication/PubMed/16549426" } ], "site_lbl": "Thr72" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "PRO", "id": "P31749", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "16549426", "url": "https://glygen.org/publication/PubMed/16549426" } ], "site_lbl": "Thr72" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P31749-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P31749-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P31749-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P31749-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P31749-1.76.78", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P31749-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P31749-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P31749-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P31749-1.86.86", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P31749-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "P31749-1", "length": 480, "uniprot_id": "AKT1_HUMAN", "protein_name": "RAC-alpha serine/threonine-protein kinase", "refseq_ac": "NP_001014431", "refseq_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "gene_names_uniprotkb": "AKT1; PKB; RAC", "gene_names_refseq": "AKT1; AKT; PKB-ALPHA; PKB; PRKBA; RAC-ALPHA; RAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Fractalkine/CX3CR1 induces apoptosis resistance and proliferation through the activation of the AKT/NF-kappaB cascade in pancreatic cancer cells.", "journal": "Cell biochemistry and function", "date": "2017", "authors": "Wang H, Cai J, Du S, Guo Z, Xin B, Wang J, Wei W, Shen X", "evidence": [ { "database": "BiomarkerKB", "id": "AN6464-1", "url": "https://biomarkerkb.org/biomarker/AN6464-1" } ], "reference": [ { "type": "PubMed", "id": "28845524", "url": "https://glygen.org/publication/PubMed/28845524" } ] } ], "crossref": [ { "id": "AN6464-1", "url": "https://biomarkerkb.org/biomarker/AN6464-1", "database": "BiomarkerKB", "categories": [ "Biomarkers" ] }, { "id": "28845524", "url": "https://glygen.org/publication/PubMed/28845524", "database": "PubMed", "categories": [ "Other" ] } ], "biomarkers": [ { "biomarker_id": "AN6464-1", "biomarker_canonical_id": "AN6464", "best_biomarker_role": [ "diagnostic" ], "condition": { "id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "name_list": [ "pancreatic cancer", "Ca body of pancreas", "Ca head of pancreas", "Ca tail of pancreas", "malignant neoplasm of body of pancreas", "malignant neoplasm of head of pancreas", "malignant neoplasm of tail of pancreas", "pancreas neoplasm", "pancreatic neoplasm", "pancreatic tumor" ], "id_list": [ "DOID:1793" ] }, "evidence": [ { "id": "AN6464-1", "database": "BiomarkerKB", "url": "https://biomarkerkb.org/biomarker/AN6464-1" }, { "id": "28845524", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28845524" } ], "assessed_biomarker_entity": [ "RAC-alpha serine/threonine-protein kinase" ], "biomarker": [ "increaesd AKT/p-AKT level" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "275" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "76", "end_pos": "78" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "snv", "site_list": [ { "start_pos": "17", "end_pos": "17" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "433", "end_pos": "433" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "85", "end_pos": "85" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "435", "end_pos": "435" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "463", "end_pos": "463" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "72", "end_pos": "72" } ] } ], "categories": [ "biomarkers_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P31749-1.2.2", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P31749-1.8.8", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P31749-1.14.14", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P31749-1.17.17", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P31749-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P31749-1.20.20", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P46952-1.78.78", "start_pos": 78, "end_pos": 78, "uniprot_canonical_ac": "P46952-1", "length": 286, "uniprot_id": "3HAO_HUMAN", "protein_name": "3-hydroxyanthranilate 3,4-dioxygenase", "refseq_ac": "NP_036337", "refseq_name": "3-hydroxyanthranilate 3,4-dioxygenase", "gene_name": "HAAO", "gene_names_uniprotkb": "HAAO", "gene_names_refseq": "3-HAO; HAAO; HAO; VCRL1; h3HAO", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P46952", "url": "https://www.uniprot.org/uniprotkb/P46952" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P46952", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P46952", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LEGDMVLRVLEQGKHRDVVI", "down_seq": "QGEIFLLPARVPHSPQRFAN", "snv": [ { "evidence": [ { "id": "P46952", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P46952" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "42783795", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R78", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJM3-1.346.346", "start_pos": 346, "end_pos": 346, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Inhibition of the EGF receptor by binding of MIG6 to an activating kinase domain interface.", "journal": "Nature", "date": "2007", "authors": "Zhang X, Pickin KA, Bose R, Jura N, Cole PA, Kuriyan J", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "18046415", "url": "https://glygen.org/publication/PubMed/18046415" } ] } ], "crossref": [ { "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18046415", "url": "https://glygen.org/publication/PubMed/18046415", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "SPSNSRTPSPKSLPSYLNGV", "down_seq": "PPTQSFAPDPKYVSSKALQR", "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "A", "comment": "Abolishes inhibition of EGFR activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" }, { "database": "PubMed", "id": "18046415", "url": "https://glygen.org/publication/PubMed/18046415" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9UJM3-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UJM3-1.352.352", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UJM3-1.358.358", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UJM3-1.352.352", "start_pos": 352, "end_pos": 352, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Inhibition of the EGF receptor by binding of MIG6 to an activating kinase domain interface.", "journal": "Nature", "date": "2007", "authors": "Zhang X, Pickin KA, Bose R, Jura N, Cole PA, Kuriyan J", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "18046415", "url": "https://glygen.org/publication/PubMed/18046415" } ] } ], "crossref": [ { "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18046415", "url": "https://glygen.org/publication/PubMed/18046415", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "TPSPKSLPSYLNGVMPPTQS", "down_seq": "APDPKYVSSKALQRQNSEGS", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Abolishes inhibition of EGFR activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" }, { "database": "PubMed", "id": "18046415", "url": "https://glygen.org/publication/PubMed/18046415" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9UJM3-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UJM3-1.346.346", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9UJM3-1.358.358", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UJM3-1.358.358", "start_pos": 358, "end_pos": 358, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Inhibition of the EGF receptor by binding of MIG6 to an activating kinase domain interface.", "journal": "Nature", "date": "2007", "authors": "Zhang X, Pickin KA, Bose R, Jura N, Cole PA, Kuriyan J", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "18046415", "url": "https://glygen.org/publication/PubMed/18046415" } ] } ], "crossref": [ { "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18046415", "url": "https://glygen.org/publication/PubMed/18046415", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LPSYLNGVMPPTQSFAPDPK", "down_seq": "VSSKALQRQNSEGSASKVPC", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes inhibition of EGFR activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" }, { "database": "PubMed", "id": "18046415", "url": "https://glygen.org/publication/PubMed/18046415" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9UJM3-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9UJM3-1.346.346", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9UJM3-1.352.352", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UJM3-1.109.109", "start_pos": 109, "end_pos": 109, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJM3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KSSLPPLLIPPSENLGPHEE", "down_seq": "QVVCGFKKLTVNGVCASTPP", "snv": [ { "evidence": [ { "id": "Q9UJM3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "8014274", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D109", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "Q9UJM3-1.127.127", "categories": [ "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJM3-1.127.127", "start_pos": 127, "end_pos": 127, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJM3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EEDQVVCGFKKLTVNGVCAS", "down_seq": "PPLTPIKNSPSLFPCAPLCE", "snv": [ { "evidence": [ { "id": "Q9UJM3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "T", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "1", "chr_pos": "8014219", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T127", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "site_lbl": "Thr127" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9UJM3-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9UJM3-1.131.131", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJM3-1.199.199", "start_pos": 199, "end_pos": 199, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJM3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TDFLLEDSTLSDFKYDVPGR", "down_seq": "SFRGCGQINYAYFDTPAVSA", "snv": [ { "evidence": [ { "id": "Q9UJM3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "8014004", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R199", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJM3-1.244.244", "start_pos": 244, "end_pos": 244, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJM3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YVSDQNGGVPDPNPPPPQTH", "down_seq": "RLRRSHSGPAGSFNKPAIRI", "snv": [ { "evidence": [ { "id": "Q9UJM3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "4", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "8013868", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R244", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q9UJM3-1.249.249", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UJM3-1.251.251", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9UJM3-1.256.256", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJM3-1.307.307", "start_pos": 307, "end_pos": 307, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJM3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VPIPPRPVKPDYRRWSAEVT", "down_seq": "STYSDEDRPPKVPPREPLSP", "snv": [ { "evidence": [ { "id": "Q9UJM3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "1", "chr_pos": "8013679", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S307", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9UJM3-1.302.302", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJM3-1.339.339", "start_pos": 339, "end_pos": 339, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJM3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "VPPREPLSPSNSRTPSPKSL", "down_seq": "SYLNGVMPPTQSFAPDPKYV", "snv": [ { "evidence": [ { "id": "Q9UJM3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "8013583", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P339", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q9UJM3-1.346.346", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9UJM3-1.352.352", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9UJM3-1.358.358", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJM3-1.453.453", "start_pos": 453, "end_pos": 453, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJM3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SSATEKPDSKTKMDLGGHVK", "down_seq": "KHLSYVVSP", "snv": [ { "evidence": [ { "id": "Q9UJM3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "1", "chr_pos": "8013241", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R453", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q9UJM3-1.460.460", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9UJM3-1.461.461", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJM3-1.460.460", "start_pos": 460, "end_pos": 460, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJM3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "DSKTKMDLGGHVKRKHLSYV", "down_seq": "SP", "snv": [ { "evidence": [ { "id": "Q9UJM3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "8013220", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V460", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9UJM3-1.453.453", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9UJM3-1.461.461", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJM3-1.75.75", "start_pos": 75, "end_pos": 75, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJM3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SLNSSAQERLIPLGHASKSA", "down_seq": "MNGHCFAENGPSQKSSLPPL", "snv": [ { "evidence": [ { "id": "Q9UJM3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "8014375", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P75", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJM3-1.9.9", "start_pos": 9, "end_pos": 9, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJM3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "MSIAGVAA", "down_seq": "EIRVPLKTGFLHNGRAMGNM", "snv": [ { "evidence": [ { "id": "Q9UJM3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UJM3" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "8015595", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q9", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJM3-1.131.131", "start_pos": 131, "end_pos": 131, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VVCGFKKLTVNGVCASTPPL", "down_seq": "PIKNSPSLFPCAPLCERGSR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "site_lbl": "Thr131" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9UJM3-1.127.127", "categories": [ "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJM3-1.249.249", "start_pos": 249, "end_pos": 249, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" }, { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Immobilized metal affinity chromatography revisited: pH/acid control toward high selectivity in phosphoproteomics.", "journal": "Journal of proteome research", "date": "2008", "authors": "Tsai CF, Wang YT, Chen YR, Lai CY, Lin PY, Pan KT, Chen JY, Khoo KH, Chen YJ", "evidence": [ { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149" } ] } ], "crossref": [ { "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NGGVPDPNPPPPQTHRRLRR", "down_seq": "HSGPAGSFNKPAIRISNCCI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149" } ], "site_lbl": "Ser249" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9UJM3-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9UJM3-1.251.251", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9UJM3-1.256.256", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UJM3-1.251.251", "start_pos": 251, "end_pos": 251, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Chk1 phosphorylates the tumour suppressor Mig-6, regulating the activation of EGF signalling.", "journal": "The EMBO journal", "date": "2012", "authors": "Liu N, Matsumoto M, Kitagawa K, Kotake Y, Suzuki S, Shirasawa S, Nakayama KI, Nakanishi M, Niida H, Kitagawa M", "evidence": [ { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "22505024", "url": "https://glygen.org/publication/PubMed/22505024" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" }, { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" }, { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" }, { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" }, { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Immobilized metal affinity chromatography revisited: pH/acid control toward high selectivity in phosphoproteomics.", "journal": "Journal of proteome research", "date": "2008", "authors": "Tsai CF, Wang YT, Chen YR, Lai CY, Lin PY, Pan KT, Chen JY, Khoo KH, Chen YJ", "evidence": [ { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149" } ] } ], "crossref": [ { "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "22505024", "url": "https://glygen.org/publication/PubMed/22505024", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UJM3", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9UJM3*", "database": "IntAct", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GVPDPNPPPPQTHRRLRRSH", "down_seq": "GPAGSFNKPAIRISNCCIHR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "O14757-1", "kinase_gene_name": "CHEK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" }, { "database": "PubMed", "id": "22505024", "url": "https://glygen.org/publication/PubMed/22505024" } ], "site_lbl": "Ser251" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" }, { "database": "PubMed", "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149" }, { "database": "IntAct", "id": "Q9UJM3", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9UJM3*" }, { "database": "PubMed", "id": "22505024", "url": "https://glygen.org/publication/PubMed/22505024" } ], "site_lbl": "Ser251" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9UJM3-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9UJM3-1.249.249", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9UJM3-1.256.256", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UJM3-1.256.256", "start_pos": 256, "end_pos": 256, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphorylation of Mig6 negatively regulates the ubiquitination and degradation of EGFR mutants in lung adenocarcinoma cell lines.", "journal": "Cellular signalling", "date": "2018-03", "authors": "Boopathy Gandhi T K, Lynn Julia Lim Sze, Wee Sheena, Gunaratne Jayantha, Hong Wanjin", "evidence": [ { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "29196224", "url": "https://glygen.org/publication/PubMed/29196224" } ] } ], "crossref": [ { "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "29196224", "url": "https://glygen.org/publication/PubMed/29196224", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NPPPPQTHRRLRRSHSGPAG", "down_seq": "FNKPAIRISNCCIHRASPNS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" }, { "database": "PubMed", "id": "29196224", "url": "https://glygen.org/publication/PubMed/29196224" } ], "site_lbl": "Ser256" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9UJM3-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9UJM3-1.249.249", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9UJM3-1.251.251", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9UJM3-1.273.273", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UJM3-1.273.273", "start_pos": 273, "end_pos": 273, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" }, { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" }, { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] } ], "crossref": [ { "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PAGSFNKPAIRISNCCIHRA", "down_seq": "PNSDEDKPEVPPRVPIPPRP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser273" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9UJM3-1.256.256", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UJM3-1.302.302", "start_pos": 302, "end_pos": 302, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EVPPRVPIPPRPVKPDYRRW", "down_seq": "AEVTSSTYSDEDRPPKVPPR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "site_lbl": "Ser302" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q9UJM3-1.307.307", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UJM3-1.394.394", "start_pos": 394, "end_pos": 394, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Effects of HER2 overexpression on cell signaling networks governing proliferation and migration.", "journal": "Molecular systems biology", "date": "2006", "authors": "Wolf-Yadlin A, Kumar N, Zhang Y, Hautaniemi S, Zaman M, Kim HD, Grantcharova V, Lauffenburger DA, White FM", "evidence": [ { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "17016520", "url": "https://glygen.org/publication/PubMed/17016520" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "Mig6 is a sensor of EGF receptor inactivation that directly activates c-Abl to induce apoptosis during epithelial homeostasis.", "journal": "Developmental cell", "date": "2012", "authors": "Hopkins S, Linderoth E, Hantschel O, Suarez-Henriques P, Pilia G, Kendrick H, Smalley MJ, Superti-Furga G, Ferby I", "evidence": [ { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "22975324", "url": "https://glygen.org/publication/PubMed/22975324" } ] }, { "title": "Tyrosine phosphorylation of mig6 reduces its inhibition of the epidermal growth factor receptor.", "journal": "ACS chemical biology", "date": "2013", "authors": "Wang Z, Raines LL, Hooy RM, Roberson H, Leahy DJ, Cole PA", "evidence": [ { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "24004111", "url": "https://glygen.org/publication/PubMed/24004111" } ] }, { "title": "Structure and mechanism of activity-based inhibition of the EGF receptor by Mig6.", "journal": "Nature structural & molecular biology", "date": "2015", "authors": "Park E, Kim N, Ficarro SB, Zhang Y, Lee BI, Cho A, Kim K, Park AKJ, Park WY, Murray B, Meyerson M, Beroukhim R, Marto JA, Cho J, Eck MJ", "evidence": [ { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "26280531", "url": "https://glygen.org/publication/PubMed/26280531" } ] }, { "title": "Exploring the interactions of EGFR with phosphorylated Mig6 by molecular dynamics simulations and MM-PBSA calculations.", "journal": "Journal of theoretical biology", "date": "2018", "authors": "Zhang Y, Zheng QC", "evidence": [ { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "29574142", "url": "https://glygen.org/publication/PubMed/29574142" } ] } ], "crossref": [ { "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17016520", "url": "https://glygen.org/publication/PubMed/17016520", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107", "database": "PubMed", "categories": [ "Other" ] }, { "id": "22975324", "url": "https://glygen.org/publication/PubMed/22975324", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24004111", "url": "https://glygen.org/publication/PubMed/24004111", "database": "PubMed", "categories": [ "Other" ] }, { "id": "26280531", "url": "https://glygen.org/publication/PubMed/26280531", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29574142", "url": "https://glygen.org/publication/PubMed/29574142", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "SKVPCILPIIENGKKVSSTH", "down_seq": "YLLPERPPYLDKYEKFFREA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" }, { "database": "PubMed", "id": "17016520", "url": "https://glygen.org/publication/PubMed/17016520" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "PubMed", "id": "22975324", "url": "https://glygen.org/publication/PubMed/22975324" }, { "database": "PubMed", "id": "24004111", "url": "https://glygen.org/publication/PubMed/24004111" }, { "database": "PubMed", "id": "26280531", "url": "https://glygen.org/publication/PubMed/26280531" }, { "database": "PubMed", "id": "29574142", "url": "https://glygen.org/publication/PubMed/29574142" } ], "site_lbl": "Tyr394" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q9UJM3-1.395.395", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UJM3-1.395.395", "start_pos": 395, "end_pos": 395, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structure and mechanism of activity-based inhibition of the EGF receptor by Mig6.", "journal": "Nature structural & molecular biology", "date": "2015", "authors": "Park E, Kim N, Ficarro SB, Zhang Y, Lee BI, Cho A, Kim K, Park AKJ, Park WY, Murray B, Meyerson M, Beroukhim R, Marto JA, Cho J, Eck MJ", "evidence": [ { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "26280531", "url": "https://glygen.org/publication/PubMed/26280531" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] } ], "crossref": [ { "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "26280531", "url": "https://glygen.org/publication/PubMed/26280531", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "KVPCILPIIENGKKVSSTHY", "down_seq": "LLPERPPYLDKYEKFFREAE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P12931-1", "kinase_gene_name": "SRC", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" }, { "database": "PubMed", "id": "26280531", "url": "https://glygen.org/publication/PubMed/26280531" } ], "site_lbl": "Tyr395" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ], "site_lbl": "Tyr395" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q9UJM3-1.394.394", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UJM3-1.461.461", "start_pos": 461, "end_pos": 461, "uniprot_canonical_ac": "Q9UJM3-1", "length": 462, "uniprot_id": "ERRFI_HUMAN", "protein_name": "ERBB receptor feedback inhibitor 1", "refseq_ac": "NP_061821", "refseq_name": "ERBB receptor feedback inhibitor 1", "gene_name": "ERRFI1", "gene_names_uniprotkb": "ERRFI1; MIG6", "gene_names_refseq": "ERRFI1; GENE-33; MIG-6; MIG6; RALT", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" }, { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" }, { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" }, { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] } ], "crossref": [ { "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SKTKMDLGGHVKRKHLSYVV", "down_seq": "", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UJM3", "url": "https://www.uniprot.org/uniprotkb/Q9UJM3" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q9UJM3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UJM3" } ], "site_lbl": "Ser461" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "346", "end_pos": "346" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "358", "end_pos": "358" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "460", "end_pos": "460" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "256", "end_pos": "256" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "461", "end_pos": "461" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9UJM3-1.453.453", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9UJM3-1.460.460", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NW38-1.127.128", "start_pos": 127, "end_pos": 128, "uniprot_canonical_ac": "Q9NW38-1", "length": 375, "uniprot_id": "FANCL_HUMAN", "protein_name": "E3 ubiquitin-protein ligase FANCL", "refseq_ac": "NP_001108108", "refseq_name": "E3 ubiquitin-protein ligase FANCL isoform 1", "gene_name": "FANCL", "gene_names_uniprotkb": "FANCL; PHF9", "gene_names_refseq": "FAAP43; FANCL; PHF9; POG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural analysis of human FANCL, the E3 ligase in the Fanconi anemia pathway.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Hodson C, Cole AR, Lewis LP, Miles JA, Purkiss A, Walden H", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "reference": [ { "type": "PubMed", "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430" } ] } ], "crossref": [ { "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "VY", "start_aa": "V", "up_seq": "PPQFYSSLIEEIGTLGWDKL", "down_seq": "ADTCFSTIKLKAEDASGREH", "mutagenesis": [ { "sequence_org": "VY", "sequence_mut": "AA", "comment": "No effect on interaction with FANCI and FANCD2.", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "PubMed", "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "127", "end_pos": "128" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "158", "end_pos": "159" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "212", "end_pos": "214" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "359", "end_pos": "359" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "178", "end_pos": "178" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NW38-1.149.149", "start_pos": 149, "end_pos": 149, "uniprot_canonical_ac": "Q9NW38-1", "length": 375, "uniprot_id": "FANCL_HUMAN", "protein_name": "E3 ubiquitin-protein ligase FANCL", "refseq_ac": "NP_001108108", "refseq_name": "E3 ubiquitin-protein ligase FANCL isoform 1", "gene_name": "FANCL", "gene_names_uniprotkb": "FANCL; PHF9", "gene_names_refseq": "FAAP43; FANCL; PHF9; POG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural analysis of human FANCL, the E3 ligase in the Fanconi anemia pathway.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Hodson C, Cole AR, Lewis LP, Miles JA, Purkiss A, Walden H", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "reference": [ { "type": "PubMed", "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430" } ] } ], "crossref": [ { "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "ADTCFSTIKLKAEDASGREH", "down_seq": "ITLKLKAKYPAESPDYFVDF", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "No effect on interaction with FANCI and FANCD2; when associated with A-166.", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "PubMed", "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "127", "end_pos": "128" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "158", "end_pos": "159" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "212", "end_pos": "214" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "359", "end_pos": "359" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "178", "end_pos": "178" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q9NW38-1.158.159", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NW38-1.166.166", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NW38-1.158.159", "start_pos": 158, "end_pos": 159, "uniprot_canonical_ac": "Q9NW38-1", "length": 375, "uniprot_id": "FANCL_HUMAN", "protein_name": "E3 ubiquitin-protein ligase FANCL", "refseq_ac": "NP_001108108", "refseq_name": "E3 ubiquitin-protein ligase FANCL isoform 1", "gene_name": "FANCL", "gene_names_uniprotkb": "FANCL; PHF9", "gene_names_refseq": "FAAP43; FANCL; PHF9; POG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI.", "journal": "Molecular cell", "date": "2008", "authors": "Alpi AF, Pace PE, Babu MM, Patel KJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "Reactome", "id": "R-HSA-6783310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783310" } ], "reference": [ { "type": "PubMed", "id": "19111657", "url": "https://glygen.org/publication/PubMed/19111657" } ] } ], "crossref": [ { "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19111657", "url": "https://glygen.org/publication/PubMed/19111657", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "YP", "start_aa": "Y", "up_seq": "LKAEDASGREHLITLKLKAK", "down_seq": "AESPDYFVDFPVPFCASWTP", "mutagenesis": [ { "sequence_org": "YP", "sequence_mut": "AA", "comment": "Abolishes UBE2T charging.", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "PubMed", "id": "19111657", "url": "https://glygen.org/publication/PubMed/19111657" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "127", "end_pos": "128" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "158", "end_pos": "159" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "212", "end_pos": "214" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "359", "end_pos": "359" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "178", "end_pos": "178" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9NW38-1.149.149", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9NW38-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9NW38-1.178.178", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NW38-1.166.166", "start_pos": 166, "end_pos": 166, "uniprot_canonical_ac": "Q9NW38-1", "length": 375, "uniprot_id": "FANCL_HUMAN", "protein_name": "E3 ubiquitin-protein ligase FANCL", "refseq_ac": "NP_001108108", "refseq_name": "E3 ubiquitin-protein ligase FANCL isoform 1", "gene_name": "FANCL", "gene_names_uniprotkb": "FANCL; PHF9", "gene_names_refseq": "FAAP43; FANCL; PHF9; POG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural analysis of human FANCL, the E3 ligase in the Fanconi anemia pathway.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Hodson C, Cole AR, Lewis LP, Miles JA, Purkiss A, Walden H", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "reference": [ { "type": "PubMed", "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430" } ] } ], "crossref": [ { "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "REHLITLKLKAKYPAESPDY", "down_seq": "VDFPVPFCASWTPQSSLISI", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Does not affect interaction with FANCI and FANCD2; when associated with A-149.", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "PubMed", "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "127", "end_pos": "128" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "158", "end_pos": "159" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "212", "end_pos": "214" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "359", "end_pos": "359" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "178", "end_pos": "178" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9NW38-1.149.149", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9NW38-1.158.159", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NW38-1.178.178", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NW38-1.212.214", "start_pos": 212, "end_pos": 214, "uniprot_canonical_ac": "Q9NW38-1", "length": 375, "uniprot_id": "FANCL_HUMAN", "protein_name": "E3 ubiquitin-protein ligase FANCL", "refseq_ac": "NP_001108108", "refseq_name": "E3 ubiquitin-protein ligase FANCL isoform 1", "gene_name": "FANCL", "gene_names_uniprotkb": "FANCL; PHF9", "gene_names_refseq": "FAAP43; FANCL; PHF9; POG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural analysis of human FANCL, the E3 ligase in the Fanconi anemia pathway.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Hodson C, Cole AR, Lewis LP, Miles JA, Purkiss A, Walden H", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "reference": [ { "type": "PubMed", "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430" } ] } ], "crossref": [ { "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "WVL", "start_aa": "W", "up_seq": "AAIESLKAFWDVMDEIDEKT", "down_seq": "EPEKPPRSATARRIALGNNV", "mutagenesis": [ { "sequence_org": "WVL", "sequence_mut": "AVA", "comment": "Impairs interaction with FANCI and FANCD2.", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "PubMed", "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "127", "end_pos": "128" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "158", "end_pos": "159" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "212", "end_pos": "214" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "359", "end_pos": "359" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "178", "end_pos": "178" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NW38-1.248.248", "start_pos": 248, "end_pos": 248, "uniprot_canonical_ac": "Q9NW38-1", "length": 375, "uniprot_id": "FANCL_HUMAN", "protein_name": "E3 ubiquitin-protein ligase FANCL", "refseq_ac": "NP_001108108", "refseq_name": "E3 ubiquitin-protein ligase FANCL isoform 1", "gene_name": "FANCL", "gene_names_uniprotkb": "FANCL; PHF9", "gene_names_refseq": "FAAP43; FANCL; PHF9; POG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural analysis of human FANCL, the E3 ligase in the Fanconi anemia pathway.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Hodson C, Cole AR, Lewis LP, Miles JA, Purkiss A, Walden H", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "reference": [ { "type": "PubMed", "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430" } ] } ], "crossref": [ { "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "IALGNNVSINIEVDPRHPTM", "down_seq": "PECFFLGADHVVKPLGIKLS", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Impairs interaction with FANCI and FANCD2; when associated with A-252, A-254 and A-265.", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "PubMed", "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "127", "end_pos": "128" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "158", "end_pos": "159" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "212", "end_pos": "214" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "359", "end_pos": "359" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "178", "end_pos": "178" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9NW38-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NW38-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9NW38-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9NW38-1.265.265", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NW38-1.252.252", "start_pos": 252, "end_pos": 252, "uniprot_canonical_ac": "Q9NW38-1", "length": 375, "uniprot_id": "FANCL_HUMAN", "protein_name": "E3 ubiquitin-protein ligase FANCL", "refseq_ac": "NP_001108108", "refseq_name": "E3 ubiquitin-protein ligase FANCL isoform 1", "gene_name": "FANCL", "gene_names_uniprotkb": "FANCL; PHF9", "gene_names_refseq": "FAAP43; FANCL; PHF9; POG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural analysis of human FANCL, the E3 ligase in the Fanconi anemia pathway.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Hodson C, Cole AR, Lewis LP, Miles JA, Purkiss A, Walden H", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "reference": [ { "type": "PubMed", "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430" } ] } ], "crossref": [ { "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "NNVSINIEVDPRHPTMLPEC", "down_seq": "FLGADHVVKPLGIKLSRNIH", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Impairs interaction with FANCI and FANCD2; when associated with A-248, A-254 and A-265.", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "PubMed", "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "127", "end_pos": "128" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "158", "end_pos": "159" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "212", "end_pos": "214" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "359", "end_pos": "359" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "178", "end_pos": "178" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9NW38-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NW38-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NW38-1.254.254", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NW38-1.265.265", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NW38-1.254.254", "start_pos": 254, "end_pos": 254, "uniprot_canonical_ac": "Q9NW38-1", "length": 375, "uniprot_id": "FANCL_HUMAN", "protein_name": "E3 ubiquitin-protein ligase FANCL", "refseq_ac": "NP_001108108", "refseq_name": "E3 ubiquitin-protein ligase FANCL isoform 1", "gene_name": "FANCL", "gene_names_uniprotkb": "FANCL; PHF9", "gene_names_refseq": "FAAP43; FANCL; PHF9; POG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural analysis of human FANCL, the E3 ligase in the Fanconi anemia pathway.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Hodson C, Cole AR, Lewis LP, Miles JA, Purkiss A, Walden H", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "reference": [ { "type": "PubMed", "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430" } ] } ], "crossref": [ { "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "VSINIEVDPRHPTMLPECFF", "down_seq": "GADHVVKPLGIKLSRNIHLW", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Impairs interaction with FANCI and FANCD2; when associated with A-248, A-252 and A-265.", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "PubMed", "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "127", "end_pos": "128" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "158", "end_pos": "159" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "212", "end_pos": "214" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "359", "end_pos": "359" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "178", "end_pos": "178" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9NW38-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9NW38-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NW38-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NW38-1.265.265", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NW38-1.265.265", "start_pos": 265, "end_pos": 265, "uniprot_canonical_ac": "Q9NW38-1", "length": 375, "uniprot_id": "FANCL_HUMAN", "protein_name": "E3 ubiquitin-protein ligase FANCL", "refseq_ac": "NP_001108108", "refseq_name": "E3 ubiquitin-protein ligase FANCL isoform 1", "gene_name": "FANCL", "gene_names_uniprotkb": "FANCL; PHF9", "gene_names_refseq": "FAAP43; FANCL; PHF9; POG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural analysis of human FANCL, the E3 ligase in the Fanconi anemia pathway.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Hodson C, Cole AR, Lewis LP, Miles JA, Purkiss A, Walden H", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "reference": [ { "type": "PubMed", "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430" } ] } ], "crossref": [ { "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "PTMLPECFFLGADHVVKPLG", "down_seq": "KLSRNIHLWDPENSVLQNLK", "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "Impairs interaction with FANCI and FANCD2; when associated with A-248, A-252 and A-254.", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "PubMed", "id": "21775430", "url": "https://glygen.org/publication/PubMed/21775430" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "127", "end_pos": "128" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "158", "end_pos": "159" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "212", "end_pos": "214" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "359", "end_pos": "359" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "178", "end_pos": "178" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9NW38-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9NW38-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9NW38-1.254.254", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NW38-1.307.307", "start_pos": 307, "end_pos": 307, "uniprot_canonical_ac": "Q9NW38-1", "length": 375, "uniprot_id": "FANCL_HUMAN", "protein_name": "E3 ubiquitin-protein ligase FANCL", "refseq_ac": "NP_001108108", "refseq_name": "E3 ubiquitin-protein ligase FANCL isoform 1", "gene_name": "FANCL", "gene_names_uniprotkb": "FANCL; PHF9", "gene_names_refseq": "FAAP43; FANCL; PHF9; POG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A novel ubiquitin ligase is deficient in Fanconi anemia.", "journal": "Nature genetics", "date": "2003", "authors": "Meetei AR, de Winter JP, Medhurst AL, Wallisch M, Waisfisz Q, van de Vrugt HJ, Oostra AB, Yan Z, Ling C, Bishop CE, Hoatlin ME, Joenje H, Wang W", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "RefSeq", "id": "NP_001108108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001108108" } ], "reference": [ { "type": "PubMed", "id": "12973351", "url": "https://glygen.org/publication/PubMed/12973351" } ] }, { "title": "Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI.", "journal": "Molecular cell", "date": "2008", "authors": "Alpi AF, Pace PE, Babu MM, Patel KJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "Reactome", "id": "R-HSA-6783310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783310" } ], "reference": [ { "type": "PubMed", "id": "19111657", "url": "https://glygen.org/publication/PubMed/19111657" } ] }, { "title": "UBE2T is the E2 in the Fanconi anemia pathway and undergoes negative autoregulation.", "journal": "Molecular cell", "date": "2006", "authors": "Machida YJ, Machida Y, Chen Y, Gurtan AM, Kupfer GM, D'Andrea AD, Dutta A", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "Reactome", "id": "R-HSA-6783310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783310" } ], "reference": [ { "type": "PubMed", "id": "16916645", "url": "https://glygen.org/publication/PubMed/16916645" } ] }, { "title": "UBE2T, the Fanconi anemia core complex, and FANCD2 are recruited independently to chromatin: a basis for the regulation of FANCD2 monoubiquitination.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Alpi A, Langevin F, Mosedale G, Machida YJ, Dutta A, Patel KJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "Reactome", "id": "R-HSA-6783310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783310" } ], "reference": [ { "type": "PubMed", "id": "17938197", "url": "https://glygen.org/publication/PubMed/17938197" } ] }, { "title": "FANCI binds branched DNA and is monoubiquitinated by UBE2T-FANCL.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Longerich S, San Filippo J, Liu D, Sung P", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "Reactome", "id": "R-HSA-6783310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783310" } ], "reference": [ { "type": "PubMed", "id": "19589784", "url": "https://glygen.org/publication/PubMed/19589784" } ] } ], "crossref": [ { "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12973351", "url": "https://glygen.org/publication/PubMed/12973351", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19111657", "url": "https://glygen.org/publication/PubMed/19111657", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16916645", "url": "https://glygen.org/publication/PubMed/16916645", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17938197", "url": "https://glygen.org/publication/PubMed/17938197", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19589784", "url": "https://glygen.org/publication/PubMed/19589784", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "VLEIDFPARAILEKSDFTMD", "down_seq": "GICYAYQLDGTIPDQVCDNS", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes ubiquitin ligase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "PubMed", "id": "12973351", "url": "https://glygen.org/publication/PubMed/12973351" }, { "database": "PubMed", "id": "19111657", "url": "https://glygen.org/publication/PubMed/19111657" }, { "database": "PubMed", "id": "16916645", "url": "https://glygen.org/publication/PubMed/16916645" }, { "database": "PubMed", "id": "17938197", "url": "https://glygen.org/publication/PubMed/17938197" }, { "database": "PubMed", "id": "19589784", "url": "https://glygen.org/publication/PubMed/19589784" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "127", "end_pos": "128" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "158", "end_pos": "159" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "212", "end_pos": "214" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "359", "end_pos": "359" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "178", "end_pos": "178" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9NW38-1.309.309", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NW38-1.310.310", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NW38-1.311.311", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NW38-1.309.309", "start_pos": 309, "end_pos": 309, "uniprot_canonical_ac": "Q9NW38-1", "length": 375, "uniprot_id": "FANCL_HUMAN", "protein_name": "E3 ubiquitin-protein ligase FANCL", "refseq_ac": "NP_001108108", "refseq_name": "E3 ubiquitin-protein ligase FANCL isoform 1", "gene_name": "FANCL", "gene_names_uniprotkb": "FANCL; PHF9", "gene_names_refseq": "FAAP43; FANCL; PHF9; POG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structure of the human FANCL RING-Ube2T complex reveals determinants of cognate E3-E2 selection.", "journal": "Structure (London, England : 1993)", "date": "2014", "authors": "Hodson C, Purkiss A, Miles JA, Walden H", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "Reactome", "id": "R-HSA-6783310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783310" } ], "reference": [ { "type": "PubMed", "id": "24389026", "url": "https://glygen.org/publication/PubMed/24389026" } ] } ], "crossref": [ { "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24389026", "url": "https://glygen.org/publication/PubMed/24389026", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "EIDFPARAILEKSDFTMDCG", "down_seq": "CYAYQLDGTIPDQVCDNSQC", "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "Loss of interaction with UBE2T.", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "PubMed", "id": "24389026", "url": "https://glygen.org/publication/PubMed/24389026" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "127", "end_pos": "128" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "158", "end_pos": "159" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "212", "end_pos": "214" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "359", "end_pos": "359" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "178", "end_pos": "178" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9NW38-1.307.307", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NW38-1.310.310", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9NW38-1.311.311", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NW38-1.310.310", "start_pos": 310, "end_pos": 310, "uniprot_canonical_ac": "Q9NW38-1", "length": 375, "uniprot_id": "FANCL_HUMAN", "protein_name": "E3 ubiquitin-protein ligase FANCL", "refseq_ac": "NP_001108108", "refseq_name": "E3 ubiquitin-protein ligase FANCL isoform 1", "gene_name": "FANCL", "gene_names_uniprotkb": "FANCL; PHF9", "gene_names_refseq": "FAAP43; FANCL; PHF9; POG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A novel ubiquitin ligase is deficient in Fanconi anemia.", "journal": "Nature genetics", "date": "2003", "authors": "Meetei AR, de Winter JP, Medhurst AL, Wallisch M, Waisfisz Q, van de Vrugt HJ, Oostra AB, Yan Z, Ling C, Bishop CE, Hoatlin ME, Joenje H, Wang W", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "RefSeq", "id": "NP_001108108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001108108" } ], "reference": [ { "type": "PubMed", "id": "12973351", "url": "https://glygen.org/publication/PubMed/12973351" } ] }, { "title": "UBE2T, the Fanconi anemia core complex, and FANCD2 are recruited independently to chromatin: a basis for the regulation of FANCD2 monoubiquitination.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Alpi A, Langevin F, Mosedale G, Machida YJ, Dutta A, Patel KJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "Reactome", "id": "R-HSA-6783310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783310" } ], "reference": [ { "type": "PubMed", "id": "17938197", "url": "https://glygen.org/publication/PubMed/17938197" } ] } ], "crossref": [ { "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "12973351", "url": "https://glygen.org/publication/PubMed/12973351", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17938197", "url": "https://glygen.org/publication/PubMed/17938197", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "IDFPARAILEKSDFTMDCGI", "down_seq": "YAYQLDGTIPDQVCDNSQCG", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes ubiquitin ligase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "PubMed", "id": "12973351", "url": "https://glygen.org/publication/PubMed/12973351" }, { "database": "PubMed", "id": "17938197", "url": "https://glygen.org/publication/PubMed/17938197" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "127", "end_pos": "128" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "158", "end_pos": "159" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "212", "end_pos": "214" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "359", "end_pos": "359" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "178", "end_pos": "178" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9NW38-1.307.307", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NW38-1.309.309", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9NW38-1.311.311", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NW38-1.311.311", "start_pos": 311, "end_pos": 311, "uniprot_canonical_ac": "Q9NW38-1", "length": 375, "uniprot_id": "FANCL_HUMAN", "protein_name": "E3 ubiquitin-protein ligase FANCL", "refseq_ac": "NP_001108108", "refseq_name": "E3 ubiquitin-protein ligase FANCL isoform 1", "gene_name": "FANCL", "gene_names_uniprotkb": "FANCL; PHF9", "gene_names_refseq": "FAAP43; FANCL; PHF9; POG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structure of the human FANCL RING-Ube2T complex reveals determinants of cognate E3-E2 selection.", "journal": "Structure (London, England : 1993)", "date": "2014", "authors": "Hodson C, Purkiss A, Miles JA, Walden H", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "Reactome", "id": "R-HSA-6783310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783310" } ], "reference": [ { "type": "PubMed", "id": "24389026", "url": "https://glygen.org/publication/PubMed/24389026" } ] } ], "crossref": [ { "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24389026", "url": "https://glygen.org/publication/PubMed/24389026", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "DFPARAILEKSDFTMDCGIC", "down_seq": "AYQLDGTIPDQVCDNSQCGQ", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Loss of interaction with UBE2T.", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "PubMed", "id": "24389026", "url": "https://glygen.org/publication/PubMed/24389026" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "127", "end_pos": "128" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "158", "end_pos": "159" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "212", "end_pos": "214" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "359", "end_pos": "359" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "178", "end_pos": "178" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9NW38-1.307.307", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9NW38-1.309.309", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9NW38-1.310.310", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NW38-1.341.341", "start_pos": 341, "end_pos": 341, "uniprot_canonical_ac": "Q9NW38-1", "length": 375, "uniprot_id": "FANCL_HUMAN", "protein_name": "E3 ubiquitin-protein ligase FANCL", "refseq_ac": "NP_001108108", "refseq_name": "E3 ubiquitin-protein ligase FANCL isoform 1", "gene_name": "FANCL", "gene_names_uniprotkb": "FANCL; PHF9", "gene_names_refseq": "FAAP43; FANCL; PHF9; POG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structure of the human FANCL RING-Ube2T complex reveals determinants of cognate E3-E2 selection.", "journal": "Structure (London, England : 1993)", "date": "2014", "authors": "Hodson C, Purkiss A, Miles JA, Walden H", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "Reactome", "id": "R-HSA-6783310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783310" } ], "reference": [ { "type": "PubMed", "id": "24389026", "url": "https://glygen.org/publication/PubMed/24389026" } ] }, { "title": "UBE2T is the E2 in the Fanconi anemia pathway and undergoes negative autoregulation.", "journal": "Molecular cell", "date": "2006", "authors": "Machida YJ, Machida Y, Chen Y, Gurtan AM, Kupfer GM, D'Andrea AD, Dutta A", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "Reactome", "id": "R-HSA-6783310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783310" } ], "reference": [ { "type": "PubMed", "id": "16916645", "url": "https://glygen.org/publication/PubMed/16916645" } ] } ], "crossref": [ { "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24389026", "url": "https://glygen.org/publication/PubMed/24389026", "database": "PubMed", "categories": [ "Other" ] }, { "id": "16916645", "url": "https://glygen.org/publication/PubMed/16916645", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "DQVCDNSQCGQPFHQICLYE", "down_seq": "LRGLLTSRQSFNIIFGECPY", "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Loss of interaction with UBE2T.", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "PubMed", "id": "24389026", "url": "https://glygen.org/publication/PubMed/24389026" } ] }, { "sequence_org": "W", "sequence_mut": "G", "comment": "Abolishes interaction with UBE2T and ubiquitin ligase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "PubMed", "id": "16916645", "url": "https://glygen.org/publication/PubMed/16916645" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "127", "end_pos": "128" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "158", "end_pos": "159" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "212", "end_pos": "214" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "359", "end_pos": "359" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "178", "end_pos": "178" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "Q9NW38-1.359.359", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NW38-1.359.359", "start_pos": 359, "end_pos": 359, "uniprot_canonical_ac": "Q9NW38-1", "length": 375, "uniprot_id": "FANCL_HUMAN", "protein_name": "E3 ubiquitin-protein ligase FANCL", "refseq_ac": "NP_001108108", "refseq_name": "E3 ubiquitin-protein ligase FANCL isoform 1", "gene_name": "FANCL", "gene_names_uniprotkb": "FANCL; PHF9", "gene_names_refseq": "FAAP43; FANCL; PHF9; POG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI.", "journal": "Molecular cell", "date": "2008", "authors": "Alpi AF, Pace PE, Babu MM, Patel KJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "Reactome", "id": "R-HSA-6783310", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783310" } ], "reference": [ { "type": "PubMed", "id": "19111657", "url": "https://glygen.org/publication/PubMed/19111657" } ] } ], "crossref": [ { "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19111657", "url": "https://glygen.org/publication/PubMed/19111657", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "YEWLRGLLTSRQSFNIIFGE", "down_seq": "PYCSKPITLKMSGRKH", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes ubiquitin ligase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" }, { "database": "PubMed", "id": "19111657", "url": "https://glygen.org/publication/PubMed/19111657" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "127", "end_pos": "128" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "158", "end_pos": "159" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "212", "end_pos": "214" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "359", "end_pos": "359" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "178", "end_pos": "178" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9NW38-1.341.341", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NW38-1.242.242", "start_pos": 242, "end_pos": 242, "uniprot_canonical_ac": "Q9NW38-1", "length": 375, "uniprot_id": "FANCL_HUMAN", "protein_name": "E3 ubiquitin-protein ligase FANCL", "refseq_ac": "NP_001108108", "refseq_name": "E3 ubiquitin-protein ligase FANCL isoform 1", "gene_name": "FANCL", "gene_names_uniprotkb": "FANCL; PHF9", "gene_names_refseq": "FAAP43; FANCL; PHF9; POG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NW38", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NW38", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SATARRIALGNNVSINIEVD", "down_seq": "RHPTMLPECFFLGADHVVKP", "snv": [ { "evidence": [ { "id": "Q9NW38", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NW38" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "58163484", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P242", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "127", "end_pos": "128" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "158", "end_pos": "159" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "212", "end_pos": "214" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "359", "end_pos": "359" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "178", "end_pos": "178" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q9NW38-1.248.248", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9NW38-1.252.252", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NW38-1.254.254", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NW38-1.178.178", "start_pos": 178, "end_pos": 178, "uniprot_canonical_ac": "Q9NW38-1", "length": 375, "uniprot_id": "FANCL_HUMAN", "protein_name": "E3 ubiquitin-protein ligase FANCL", "refseq_ac": "NP_001108108", "refseq_name": "E3 ubiquitin-protein ligase FANCL isoform 1", "gene_name": "FANCL", "gene_names_uniprotkb": "FANCL; PHF9", "gene_names_refseq": "FAAP43; FANCL; PHF9; POG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NW38", "url": "https://www.uniprot.org/uniprotkb/Q9NW38" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "The PI3K/Akt1 pathway enhances steady-state levels of FANCL.", "journal": "Molecular biology of the cell", "date": "2013", "authors": "Dao KH, Rotelli MD, Brown BR, Yates JE, Rantala J, Tognon C, Tyner JW, Druker BJ, Bagby GC", "evidence": [ { "database": "iPTMnet", "id": "Q9NW38", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NW38" } ], "reference": [ { "type": "PubMed", "id": "23783032", "url": "https://glygen.org/publication/PubMed/23783032" } ] } ], "crossref": [ { "id": "Q9NW38", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NW38", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "23783032", "url": "https://glygen.org/publication/PubMed/23783032", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "YPAESPDYFVDFPVPFCASW", "down_seq": "PQSSLISIYSQFLAAIESLK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NW38", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NW38" }, { "database": "PubMed", "id": "23783032", "url": "https://glygen.org/publication/PubMed/23783032" } ], "site_lbl": "Thr178" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "127", "end_pos": "128" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "158", "end_pos": "159" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "212", "end_pos": "214" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "359", "end_pos": "359" } ] }, { "type": "snv", "site_list": [ { "start_pos": "242", "end_pos": "242" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "178", "end_pos": "178" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9NW38-1.158.159", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9NW38-1.166.166", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N205-1.79.79", "start_pos": 79, "end_pos": 79, "uniprot_canonical_ac": "Q8N205-1", "length": 404, "uniprot_id": "SYNE4_HUMAN", "protein_name": "Nesprin-4", "refseq_ac": "NP_001034965", "refseq_name": "nesprin-4 isoform 1", "gene_name": "SYNE4", "gene_names_uniprotkb": "SYNE4; C19orf46", "gene_names_refseq": "C19orf46; DFNB76; KASH4; Nesp4; SYNE4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N205", "url": "https://www.uniprot.org/uniprotkb/Q8N205" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EHFQGGPRGNEPAAHPPRWS", "down_seq": "PSSYEDPAGGKHCEHPISGL", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr79", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "79", "end_pos": "79" } ] }, { "type": "snv", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8N205-1.70.70", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N205-1.32.32", "start_pos": 32, "end_pos": 32, "uniprot_canonical_ac": "Q8N205-1", "length": 404, "uniprot_id": "SYNE4_HUMAN", "protein_name": "Nesprin-4", "refseq_ac": "NP_001034965", "refseq_name": "nesprin-4 isoform 1", "gene_name": "SYNE4", "gene_names_uniprotkb": "SYNE4; C19orf46", "gene_names_refseq": "C19orf46; DFNB76; KASH4; Nesp4; SYNE4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N205", "url": "https://www.uniprot.org/uniprotkb/Q8N205" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N205", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N205", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs565009900", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565009900", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs565009900", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565009900", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs565009900", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565009900", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs565009900", "url": "https://www.ncbi.nlm.nih.gov/snp/rs565009900#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs565009900", "url": "http://gnomad.broadinstitute.org/awesome?query=rs565009900", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GSEPLNHPPGAPREADIVGC", "down_seq": "VCPASGEESTSPEQAQTLGQ", "snv": [ { "evidence": [ { "id": "Q8N205", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N205" }, { "id": "rs565009900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565009900" }, { "id": "rs565009900", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565009900" }, { "id": "rs565009900", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565009900" }, { "id": "rs565009900", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs565009900#frequency_tab" }, { "id": "rs565009900", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs565009900" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TVC->NVC).", "chr_id": "19", "chr_pos": "36008587", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T32", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "79", "end_pos": "79" } ] }, { "type": "snv", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q8N205-1.41.41", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N205-1.41.41", "start_pos": 41, "end_pos": 41, "uniprot_canonical_ac": "Q8N205-1", "length": 404, "uniprot_id": "SYNE4_HUMAN", "protein_name": "Nesprin-4", "refseq_ac": "NP_001034965", "refseq_name": "nesprin-4 isoform 1", "gene_name": "SYNE4", "gene_names_uniprotkb": "SYNE4; C19orf46", "gene_names_refseq": "C19orf46; DFNB76; KASH4; Nesp4; SYNE4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N205", "url": "https://www.uniprot.org/uniprotkb/Q8N205" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs779393935", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779393935", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779393935", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779393935", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779393935", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779393935#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs779393935", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779393935", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GAPREADIVGCTVCPASGEE", "down_seq": "TSPEQAQTLGQDSLGPPEHF", "snv": [ { "evidence": [ { "id": "rs779393935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779393935" }, { "id": "rs779393935", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779393935" }, { "id": "rs779393935", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779393935#frequency_tab" }, { "id": "rs779393935", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779393935" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "19", "chr_pos": "36008560", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S41", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "79", "end_pos": "79" } ] }, { "type": "snv", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8N205-1.32.32", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N205-1.70.70", "start_pos": 70, "end_pos": 70, "uniprot_canonical_ac": "Q8N205-1", "length": 404, "uniprot_id": "SYNE4_HUMAN", "protein_name": "Nesprin-4", "refseq_ac": "NP_001034965", "refseq_name": "nesprin-4 isoform 1", "gene_name": "SYNE4", "gene_names_uniprotkb": "SYNE4; C19orf46", "gene_names_refseq": "C19orf46; DFNB76; KASH4; Nesp4; SYNE4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N205", "url": "https://www.uniprot.org/uniprotkb/Q8N205" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N205", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N205", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1416275645", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1416275645", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1416275645", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1416275645", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1416275645", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1416275645", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LGQDSLGPPEHFQGGPRGNE", "down_seq": "AAHPPRWSTPSSYEDPAGGK", "snv": [ { "evidence": [ { "id": "Q8N205", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N205" }, { "id": "rs1416275645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1416275645" }, { "id": "rs1416275645", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1416275645" }, { "id": "rs1416275645", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1416275645" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NEP->NES).", "chr_id": "19", "chr_pos": "36008288", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P70", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "79", "end_pos": "79" } ] }, { "type": "snv", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "70", "end_pos": "70" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q8N205-1.79.79", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13064-1.118.118", "start_pos": 118, "end_pos": 118, "uniprot_canonical_ac": "Q13064-1", "length": 507, "uniprot_id": "MKRN3_HUMAN", "protein_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": "NP_005655", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13064", "url": "https://www.uniprot.org/uniprotkb/Q13064" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13064", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QIICRYYIHGQCKEGENCRY", "down_seq": "HDLSGRKMATEGGVSPPGAS", "snv": [ { "evidence": [ { "id": "Q13064", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "15", "chr_pos": "23566135", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S118", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "93", "end_pos": "93" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q13064-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q13064-1.133.133", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13064-1.124.124", "start_pos": 124, "end_pos": 124, "uniprot_canonical_ac": "Q13064-1", "length": 507, "uniprot_id": "MKRN3_HUMAN", "protein_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": "NP_005655", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13064", "url": "https://www.uniprot.org/uniprotkb/Q13064" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13064", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YIHGQCKEGENCRYSHDLSG", "down_seq": "KMATEGGVSPPGASAGGGPS", "snv": [ { "evidence": [ { "id": "Q13064", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "23566152", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R124", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "93", "end_pos": "93" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q13064-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q13064-1.133.133", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13064-1.133.133", "start_pos": 133, "end_pos": 133, "uniprot_canonical_ac": "Q13064-1", "length": 507, "uniprot_id": "MKRN3_HUMAN", "protein_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": "NP_005655", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13064", "url": "https://www.uniprot.org/uniprotkb/Q13064" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13064", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ENCRYSHDLSGRKMATEGGV", "down_seq": "PPGASAGGGPSTAAHIEPPT", "snv": [ { "evidence": [ { "id": "Q13064", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "10", "frequency": "0.5", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: patient count (10/2053).", "chr_id": "15", "chr_pos": "23566180", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S133", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "93", "end_pos": "93" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q13064-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q13064-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q13064-1.147.147", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13064-1.147.147", "start_pos": 147, "end_pos": 147, "uniprot_canonical_ac": "Q13064-1", "length": 507, "uniprot_id": "MKRN3_HUMAN", "protein_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": "NP_005655", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13064", "url": "https://www.uniprot.org/uniprotkb/Q13064" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13064", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ATEGGVSPPGASAGGGPSTA", "down_seq": "HIEPPTQEVAEAPPAASSLS", "snv": [ { "evidence": [ { "id": "Q13064", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "23566222", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A147", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "93", "end_pos": "93" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q13064-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q13064-1.167.167", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13064-1.167.167", "start_pos": 167, "end_pos": 167, "uniprot_canonical_ac": "Q13064-1", "length": 507, "uniprot_id": "MKRN3_HUMAN", "protein_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": "NP_005655", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13064", "url": "https://www.uniprot.org/uniprotkb/Q13064" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13064", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AHIEPPTQEVAEAPPAASSL", "down_seq": "LPVIGSAAERGFFEAERDNA", "snv": [ { "evidence": [ { "id": "Q13064", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "9", "frequency": "0.4", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "23566282", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S167", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "93", "end_pos": "93" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q13064-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q13064-1.176.176", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13064-1.176.176", "start_pos": 176, "end_pos": 176, "uniprot_canonical_ac": "Q13064-1", "length": 507, "uniprot_id": "MKRN3_HUMAN", "protein_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": "NP_005655", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13064", "url": "https://www.uniprot.org/uniprotkb/Q13064" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13064", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "VAEAPPAASSLSLPVIGSAA", "down_seq": "RGFFEAERDNADRGAAGGAG", "snv": [ { "evidence": [ { "id": "Q13064", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "23566308", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E176", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "93", "end_pos": "93" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q13064-1.167.167", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13064-1.201.201", "start_pos": 201, "end_pos": 201, "uniprot_canonical_ac": "Q13064-1", "length": 507, "uniprot_id": "MKRN3_HUMAN", "protein_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": "NP_005655", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13064", "url": "https://www.uniprot.org/uniprotkb/Q13064" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13064", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "EAERDNADRGAAGGAGVESW", "down_seq": "DAIEFVPGQPYRGRWVASAP", "snv": [ { "evidence": [ { "id": "Q13064", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "23566384", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A201", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "93", "end_pos": "93" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q13064-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q13064-1.215.215", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13064-1.214.214", "start_pos": 214, "end_pos": 214, "uniprot_canonical_ac": "Q13064-1", "length": 507, "uniprot_id": "MKRN3_HUMAN", "protein_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": "NP_005655", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13064", "url": "https://www.uniprot.org/uniprotkb/Q13064" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13064", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "GAGVESWADAIEFVPGQPYR", "down_seq": "RWVASAPEAPLQSSETERKQ", "snv": [ { "evidence": [ { "id": "Q13064", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "23566422", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G214", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "93", "end_pos": "93" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q13064-1.201.201", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q13064-1.215.215", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13064-1.215.215", "start_pos": 215, "end_pos": 215, "uniprot_canonical_ac": "Q13064-1", "length": 507, "uniprot_id": "MKRN3_HUMAN", "protein_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": "NP_005655", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13064", "url": "https://www.uniprot.org/uniprotkb/Q13064" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13064", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AGVESWADAIEFVPGQPYRG", "down_seq": "WVASAPEAPLQSSETERKQM", "snv": [ { "evidence": [ { "id": "Q13064", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "23566425", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R215", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "93", "end_pos": "93" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q13064-1.201.201", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q13064-1.214.214", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13064-1.254.254", "start_pos": 254, "end_pos": 254, "uniprot_canonical_ac": "Q13064-1", "length": 507, "uniprot_id": "MKRN3_HUMAN", "protein_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": "NP_005655", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13064", "url": "https://www.uniprot.org/uniprotkb/Q13064" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13064", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QMAVGSGLRFCYYASRGVCF", "down_seq": "GESCMYLHGDICDMCGLQTL", "snv": [ { "evidence": [ { "id": "Q13064", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "11", "frequency": "0.5", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: patient count (11/2053).", "chr_id": "15", "chr_pos": "23566542", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R254", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "93", "end_pos": "93" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q13064-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q13064-1.267.267", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13064-1.259.259", "start_pos": 259, "end_pos": 259, "uniprot_canonical_ac": "Q13064-1", "length": 507, "uniprot_id": "MKRN3_HUMAN", "protein_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": "NP_005655", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13064", "url": "https://www.uniprot.org/uniprotkb/Q13064" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13064", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "SGLRFCYYASRGVCFRGESC", "down_seq": "YLHGDICDMCGLQTLHPMDA", "snv": [ { "evidence": [ { "id": "Q13064", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "23566559", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "M259", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "93", "end_pos": "93" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q13064-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q13064-1.267.267", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13064-1.267.267", "start_pos": 267, "end_pos": 267, "uniprot_canonical_ac": "Q13064-1", "length": 507, "uniprot_id": "MKRN3_HUMAN", "protein_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": "NP_005655", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13064", "url": "https://www.uniprot.org/uniprotkb/Q13064" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13064", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ASRGVCFRGESCMYLHGDIC", "down_seq": "MCGLQTLHPMDAAQREEHMR", "snv": [ { "evidence": [ { "id": "Q13064", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "23566581", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D267", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "93", "end_pos": "93" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q13064-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q13064-1.259.259", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13064-1.305.305", "start_pos": 305, "end_pos": 305, "uniprot_canonical_ac": "Q13064-1", "length": 507, "uniprot_id": "MKRN3_HUMAN", "protein_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": "NP_005655", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13064", "url": "https://www.uniprot.org/uniprotkb/Q13064" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13064", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "HMRACIEAHEKDMELSFAVQ", "down_seq": "GMDKVCGICMEVVYEKANPN", "snv": [ { "evidence": [ { "id": "Q13064", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "23566696", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R305", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "93", "end_pos": "93" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13064-1.328.328", "start_pos": 328, "end_pos": 328, "uniprot_canonical_ac": "Q13064-1", "length": 507, "uniprot_id": "MKRN3_HUMAN", "protein_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": "NP_005655", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13064", "url": "https://www.uniprot.org/uniprotkb/Q13064" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13064", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DKVCGICMEVVYEKANPNDR", "down_seq": "FGILSNCNHSFCIRCIRRWR", "snv": [ { "evidence": [ { "id": "Q13064", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "23566765", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R328", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "93", "end_pos": "93" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13064-1.34.34", "start_pos": 34, "end_pos": 34, "uniprot_canonical_ac": "Q13064-1", "length": 507, "uniprot_id": "MKRN3_HUMAN", "protein_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": "NP_005655", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13064", "url": "https://www.uniprot.org/uniprotkb/Q13064" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13064", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "AGAQAGAEAAREGVSGPDLP", "down_seq": "CEPSGESAAPDSALPHAARG", "snv": [ { "evidence": [ { "id": "Q13064", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "23565882", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V34", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "93", "end_pos": "93" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13064-1.450.450", "start_pos": 450, "end_pos": 450, "uniprot_canonical_ac": "Q13064-1", "length": 507, "uniprot_id": "MKRN3_HUMAN", "protein_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": "NP_005655", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13064", "url": "https://www.uniprot.org/uniprotkb/Q13064" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13064", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PPGPGGGSFSAYWHQLVEPV", "down_seq": "MGEGNMLYKSIKKELVVLRL", "snv": [ { "evidence": [ { "id": "Q13064", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "23567130", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R450", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "93", "end_pos": "93" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13064-1.477.477", "start_pos": 477, "end_pos": 477, "uniprot_canonical_ac": "Q13064-1", "length": 507, "uniprot_id": "MKRN3_HUMAN", "protein_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": "NP_005655", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13064", "url": "https://www.uniprot.org/uniprotkb/Q13064" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13064", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LYKSIKKELVVLRLASLLFK", "down_seq": "FLSLRDELPFSEDQWDLLHY", "snv": [ { "evidence": [ { "id": "Q13064", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "23567211", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R477", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "93", "end_pos": "93" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13064-1.90.90", "start_pos": 90, "end_pos": 90, "uniprot_canonical_ac": "Q13064-1", "length": 507, "uniprot_id": "MKRN3_HUMAN", "protein_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": "NP_005655", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13064", "url": "https://www.uniprot.org/uniprotkb/Q13064" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13064", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GGLRPAPASGGGAWPSPLPS", "down_seq": "SSGIWTKQIICRYYIHGQCK", "snv": [ { "evidence": [ { "id": "Q13064", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "15", "chr_pos": "23566051", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R90", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "93", "end_pos": "93" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q13064-1.93.93", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q13064-1.93.93", "start_pos": 93, "end_pos": 93, "uniprot_canonical_ac": "Q13064-1", "length": 507, "uniprot_id": "MKRN3_HUMAN", "protein_name": "E3 ubiquitin-protein ligase makorin-3", "refseq_ac": "NP_005655", "refseq_name": "E3 ubiquitin-protein ligase makorin-3", "gene_name": "MKRN3", "gene_names_uniprotkb": "MKRN3; D15S9; RNF63; ZNF127", "gene_names_refseq": "CPPB2; D15S9; MKRN3; RNF63; ZFP127; ZNF127", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13064", "url": "https://www.uniprot.org/uniprotkb/Q13064" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q13064", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "RPAPASGGGAWPSPLPSRSS", "down_seq": "IWTKQIICRYYIHGQCKEGE", "snv": [ { "evidence": [ { "id": "Q13064", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13064" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "23566059", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G93", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "93", "end_pos": "93" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q13064-1.90.90", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NQ94-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9NQ94-1", "length": 594, "uniprot_id": "A1CF_HUMAN", "protein_name": "APOBEC1 complementation factor", "refseq_ac": "NP_001185747", "refseq_name": "APOBEC1 complementation factor isoform 1", "gene_name": "A1CF", "gene_names_uniprotkb": "A1CF; ACF; ASP", "gene_names_refseq": "A1CF; ACF64; ACF65; ACF; APOBEC1CF; ASP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NQ94", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NQ94" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NQ94", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NQ94", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q9NQ94", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NQ94" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "137", "end_pos": "137" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "499", "end_pos": "499" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NQ94-1.100.100", "start_pos": 100, "end_pos": 100, "uniprot_canonical_ac": "Q9NQ94-1", "length": 594, "uniprot_id": "A1CF_HUMAN", "protein_name": "APOBEC1 complementation factor", "refseq_ac": "NP_001185747", "refseq_name": "APOBEC1 complementation factor isoform 1", "gene_name": "A1CF", "gene_names_uniprotkb": "A1CF; ACF; ASP", "gene_names_refseq": "A1CF; ACF64; ACF65; ACF; APOBEC1CF; ASP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification of domains in apobec-1 complementation factor required for RNA binding and apolipoprotein-B mRNA editing.", "journal": "RNA (New York, N.Y.)", "date": "2002", "authors": "Mehta A, Driscoll DM", "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" } ], "reference": [ { "type": "PubMed", "id": "11871661", "url": "https://glygen.org/publication/PubMed/11871661" } ] } ], "crossref": [ { "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "11871661", "url": "https://glygen.org/publication/PubMed/11871661", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "GKIYEMRMMMDFNGNNRGYA", "down_seq": "VTFSNKVEAKNAIKQLNNYE", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Greatly reduced RNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" }, { "database": "PubMed", "id": "11871661", "url": "https://glygen.org/publication/PubMed/11871661" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "137", "end_pos": "137" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "499", "end_pos": "499" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NQ94-1.139.139", "start_pos": 139, "end_pos": 139, "uniprot_canonical_ac": "Q9NQ94-1", "length": 594, "uniprot_id": "A1CF_HUMAN", "protein_name": "APOBEC1 complementation factor", "refseq_ac": "NP_001185747", "refseq_name": "APOBEC1 complementation factor isoform 1", "gene_name": "A1CF", "gene_names_uniprotkb": "A1CF; ACF; ASP", "gene_names_refseq": "A1CF; ACF64; ACF65; ACF; APOBEC1CF; ASP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification of domains in apobec-1 complementation factor required for RNA binding and apolipoprotein-B mRNA editing.", "journal": "RNA (New York, N.Y.)", "date": "2002", "authors": "Mehta A, Driscoll DM", "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" } ], "reference": [ { "type": "PubMed", "id": "11871661", "url": "https://glygen.org/publication/PubMed/11871661" } ] } ], "crossref": [ { "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "11871661", "url": "https://glygen.org/publication/PubMed/11871661", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "YEIRNGRLLGVCASVDNCRL", "down_seq": "VGGIPKTKKREEILSEMKKV", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Greatly reduced RNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" }, { "database": "PubMed", "id": "11871661", "url": "https://glygen.org/publication/PubMed/11871661" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "137", "end_pos": "137" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "499", "end_pos": "499" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9NQ94-1.137.137", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NQ94-1.183.183", "start_pos": 183, "end_pos": 183, "uniprot_canonical_ac": "Q9NQ94-1", "length": 594, "uniprot_id": "A1CF_HUMAN", "protein_name": "APOBEC1 complementation factor", "refseq_ac": "NP_001185747", "refseq_name": "APOBEC1 complementation factor isoform 1", "gene_name": "A1CF", "gene_names_uniprotkb": "A1CF; ACF; ASP", "gene_names_refseq": "A1CF; ACF64; ACF65; ACF; APOBEC1CF; ASP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification of domains in apobec-1 complementation factor required for RNA binding and apolipoprotein-B mRNA editing.", "journal": "RNA (New York, N.Y.)", "date": "2002", "authors": "Mehta A, Driscoll DM", "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" } ], "reference": [ { "type": "PubMed", "id": "11871661", "url": "https://glygen.org/publication/PubMed/11871661" } ] } ], "crossref": [ { "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "11871661", "url": "https://glygen.org/publication/PubMed/11871661", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "VVDVIVYPSAADKTKNRGFA", "down_seq": "VEYESHRAAAMARRKLLPGR", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Greatly reduced RNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" }, { "database": "PubMed", "id": "11871661", "url": "https://glygen.org/publication/PubMed/11871661" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "137", "end_pos": "137" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "499", "end_pos": "499" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q9NQ94-1.195.195", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NQ94-1.234.234", "start_pos": 234, "end_pos": 234, "uniprot_canonical_ac": "Q9NQ94-1", "length": 594, "uniprot_id": "A1CF_HUMAN", "protein_name": "APOBEC1 complementation factor", "refseq_ac": "NP_001185747", "refseq_name": "APOBEC1 complementation factor isoform 1", "gene_name": "A1CF", "gene_names_uniprotkb": "A1CF; ACF; ASP", "gene_names_refseq": "A1CF; ACF64; ACF65; ACF; APOBEC1CF; ASP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification of domains in apobec-1 complementation factor required for RNA binding and apolipoprotein-B mRNA editing.", "journal": "RNA (New York, N.Y.)", "date": "2002", "authors": "Mehta A, Driscoll DM", "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" } ], "reference": [ { "type": "PubMed", "id": "11871661", "url": "https://glygen.org/publication/PubMed/11871661" } ] } ], "crossref": [ { "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "11871661", "url": "https://glygen.org/publication/PubMed/11871661", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "DWAEPEVEVDEDTMSSVKIL", "down_seq": "VRNLMLSTSEEMIEKEFNNI", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Slightly reduced RNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" }, { "database": "PubMed", "id": "11871661", "url": "https://glygen.org/publication/PubMed/11871661" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "137", "end_pos": "137" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "499", "end_pos": "499" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NQ94-1.270.270", "start_pos": 270, "end_pos": 270, "uniprot_canonical_ac": "Q9NQ94-1", "length": 594, "uniprot_id": "A1CF_HUMAN", "protein_name": "APOBEC1 complementation factor", "refseq_ac": "NP_001185747", "refseq_name": "APOBEC1 complementation factor isoform 1", "gene_name": "A1CF", "gene_names_uniprotkb": "A1CF; ACF; ASP", "gene_names_refseq": "A1CF; ACF64; ACF65; ACF; APOBEC1CF; ASP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification of domains in apobec-1 complementation factor required for RNA binding and apolipoprotein-B mRNA editing.", "journal": "RNA (New York, N.Y.)", "date": "2002", "authors": "Mehta A, Driscoll DM", "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" } ], "reference": [ { "type": "PubMed", "id": "11871661", "url": "https://glygen.org/publication/PubMed/11871661" } ] } ], "crossref": [ { "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "11871661", "url": "https://glygen.org/publication/PubMed/11871661", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "EFNNIKPGAVERVKKIRDYA", "down_seq": "VHFSNREDAVEAMKALNGKV", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Slightly reduced RNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" }, { "database": "PubMed", "id": "11871661", "url": "https://glygen.org/publication/PubMed/11871661" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "137", "end_pos": "137" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "499", "end_pos": "499" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NQ94-1.59.59", "start_pos": 59, "end_pos": 59, "uniprot_canonical_ac": "Q9NQ94-1", "length": 594, "uniprot_id": "A1CF_HUMAN", "protein_name": "APOBEC1 complementation factor", "refseq_ac": "NP_001185747", "refseq_name": "APOBEC1 complementation factor isoform 1", "gene_name": "A1CF", "gene_names_uniprotkb": "A1CF; ACF; ASP", "gene_names_refseq": "A1CF; ACF64; ACF65; ACF; APOBEC1CF; ASP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification of domains in apobec-1 complementation factor required for RNA binding and apolipoprotein-B mRNA editing.", "journal": "RNA (New York, N.Y.)", "date": "2002", "authors": "Mehta A, Driscoll DM", "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" } ], "reference": [ { "type": "PubMed", "id": "11871661", "url": "https://glygen.org/publication/PubMed/11871661" } ] } ], "crossref": [ { "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "11871661", "url": "https://glygen.org/publication/PubMed/11871661", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "KYGGPPPGWDAAPPERGCEI", "down_seq": "IGKLPRDLFEDELIPLCEKI", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Greatly reduced RNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" }, { "database": "PubMed", "id": "11871661", "url": "https://glygen.org/publication/PubMed/11871661" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "137", "end_pos": "137" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "499", "end_pos": "499" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NQ94-1.137.137", "start_pos": 137, "end_pos": 137, "uniprot_canonical_ac": "Q9NQ94-1", "length": 594, "uniprot_id": "A1CF_HUMAN", "protein_name": "APOBEC1 complementation factor", "refseq_ac": "NP_001185747", "refseq_name": "APOBEC1 complementation factor isoform 1", "gene_name": "A1CF", "gene_names_uniprotkb": "A1CF; ACF; ASP", "gene_names_refseq": "A1CF; ACF64; ACF65; ACF; APOBEC1CF; ASP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NQ94", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ94", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NNYEIRNGRLLGVCASVDNC", "down_seq": "LFVGGIPKTKKREEILSEMK", "snv": [ { "evidence": [ { "id": "Q9NQ94", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ94" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "50836268", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R137", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "137", "end_pos": "137" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "499", "end_pos": "499" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9NQ94-1.139.139", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NQ94-1.195.195", "start_pos": 195, "end_pos": 195, "uniprot_canonical_ac": "Q9NQ94-1", "length": 594, "uniprot_id": "A1CF_HUMAN", "protein_name": "APOBEC1 complementation factor", "refseq_ac": "NP_001185747", "refseq_name": "APOBEC1 complementation factor isoform 1", "gene_name": "A1CF", "gene_names_uniprotkb": "A1CF; ACF; ASP", "gene_names_refseq": "A1CF; ACF64; ACF65; ACF; APOBEC1CF; ASP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NQ94", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ94", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "KTKNRGFAFVEYESHRAAAM", "down_seq": "RRKLLPGRIQLWGHGIAVDW", "snv": [ { "evidence": [ { "id": "Q9NQ94", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ94" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "10", "chr_pos": "50836094", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A195", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "137", "end_pos": "137" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "499", "end_pos": "499" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9NQ94-1.183.183", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NQ94-1.34.34", "start_pos": 34, "end_pos": 34, "uniprot_canonical_ac": "Q9NQ94-1", "length": 594, "uniprot_id": "A1CF_HUMAN", "protein_name": "APOBEC1 complementation factor", "refseq_ac": "NP_001185747", "refseq_name": "APOBEC1 complementation factor isoform 1", "gene_name": "A1CF", "gene_names_uniprotkb": "A1CF; ACF; ASP", "gene_names_refseq": "A1CF; ACF64; ACF65; ACF; APOBEC1CF; ASP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NQ94", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ94", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "TQKEAALRALVQRTGYSLVQ", "down_seq": "NGQRKYGGPPPGWDAAPPER", "snv": [ { "evidence": [ { "id": "Q9NQ94", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ94" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "12", "frequency": "0.6", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: patient count (12/2053).", "chr_id": "10", "chr_pos": "50844122", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E34", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "137", "end_pos": "137" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "499", "end_pos": "499" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NQ94-1.436.436", "start_pos": 436, "end_pos": 436, "uniprot_canonical_ac": "Q9NQ94-1", "length": 594, "uniprot_id": "A1CF_HUMAN", "protein_name": "APOBEC1 complementation factor", "refseq_ac": "NP_001185747", "refseq_name": "APOBEC1 complementation factor isoform 1", "gene_name": "A1CF", "gene_names_uniprotkb": "A1CF; ACF; ASP", "gene_names_refseq": "A1CF; ACF64; ACF65; ACF; APOBEC1CF; ASP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NQ94", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ94", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "DKREDKLYDILPGMELTPMN", "down_seq": "VTLKPQGIKLAPQILEEICQ", "snv": [ { "evidence": [ { "id": "Q9NQ94", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ94" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "50813898", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P436", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "137", "end_pos": "137" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "499", "end_pos": "499" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NQ94-1.536.536", "start_pos": 536, "end_pos": 536, "uniprot_canonical_ac": "Q9NQ94-1", "length": 594, "uniprot_id": "A1CF_HUMAN", "protein_name": "APOBEC1 complementation factor", "refseq_ac": "NP_001185747", "refseq_name": "APOBEC1 complementation factor isoform 1", "gene_name": "A1CF", "gene_names_uniprotkb": "A1CF; ACF; ASP", "gene_names_refseq": "A1CF; ACF64; ACF65; ACF; APOBEC1CF; ASP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NQ94", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ94", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "EYTLQTLGIPTDGGDGTMAT", "down_seq": "AAAATAFPGYAVPNATAPVS", "snv": [ { "evidence": [ { "id": "Q9NQ94", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQ94" } ], "glycoeffect": [], "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "10", "chr_pos": "50809921", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A536", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "137", "end_pos": "137" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "499", "end_pos": "499" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NQ94-1.499.499", "start_pos": 499, "end_pos": 499, "uniprot_canonical_ac": "Q9NQ94-1", "length": 594, "uniprot_id": "A1CF_HUMAN", "protein_name": "APOBEC1 complementation factor", "refseq_ac": "NP_001185747", "refseq_name": "APOBEC1 complementation factor isoform 1", "gene_name": "A1CF", "gene_names_uniprotkb": "A1CF; ACF; ASP", "gene_names_refseq": "A1CF; ACF64; ACF65; ACF; APOBEC1CF; ASP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" }, { "database": "iPTMnet", "id": "Q9NQ94", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NQ94" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NQ94", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NQ94", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "FLYKITIPALASQNPAIHPF", "down_seq": "PPKLSAFVDEAKTYAAEYTL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9NQ94", "url": "https://www.uniprot.org/uniprotkb/Q9NQ94" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9NQ94", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NQ94" } ], "site_lbl": "Thr499" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "100", "end_pos": "100" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "59", "end_pos": "59" } ] }, { "type": "snv", "site_list": [ { "start_pos": "137", "end_pos": "137" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "536", "end_pos": "536" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "499", "end_pos": "499" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.1083.1083", "start_pos": 1083, "end_pos": 1083, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q14678", "url": "https://oglcnac.org/atlas/detail/Q14678" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] } ], "crossref": [ { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q14678", "url": "https://oglcnac.org/atlas/detail/Q14678", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1310670813", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1310670813", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1310670813", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1310670813", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1164756727", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1164756727", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1164756727", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1164756727#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1164756727", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1164756727", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "VEDEMQVQECEPEKVEIRER", "down_seq": "ELSEKMLSACNLLKNTINDP", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "Y", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Tyr", "end_aa": "Tyr", "residue": "Tyr", "site_lbl": "Tyr1083", "evidence": [ { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "Q14678", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q14678" } ] } ], "snv": [ { "evidence": [ { "id": "rs1310670813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1310670813" }, { "id": "rs1310670813", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1310670813" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (Y->C).", "chr_id": "9", "chr_pos": "744555", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1083", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1164756727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1164756727" }, { "id": "rs1164756727", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1164756727#frequency_tab" }, { "id": "rs1164756727", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1164756727" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (Y->H).", "chr_id": "9", "chr_pos": "734749", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1083", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q14678-1.1100.1100", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.497.497", "start_pos": 497, "end_pos": 497, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q14678", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q14678" }, { "database": "O-GlcNAc Atlas", "id": "Q14678", "url": "https://oglcnac.org/atlas/detail/Q14678" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q14678", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q14678", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "Q14678", "url": "https://oglcnac.org/atlas/detail/Q14678", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q14678", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs765771184", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765771184", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765771184", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765771184", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765771184", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765771184#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs765771184", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765771184", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs765771184", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765771184", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RETTHDREMTKLKQELQAAG", "down_seq": "RKKVDKATMAQPLVFSKVVE", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser497", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q14678", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q14678" }, { "id": "Q14678", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q14678" } ] } ], "snv": [ { "evidence": [ { "id": "Q14678", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678" }, { "id": "rs765771184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765771184" }, { "id": "rs765771184", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765771184" }, { "id": "rs765771184", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765771184#frequency_tab" }, { "id": "rs765771184", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765771184" }, { "id": "rs765771184", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765771184" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->L).", "chr_id": "9", "chr_pos": "712256", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S497", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs765771184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765771184" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->W).", "chr_id": "9", "chr_pos": "712256", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S497", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q14678-1.505.505", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.505.505", "start_pos": 505, "end_pos": 505, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q14678", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q14678" }, { "database": "O-GlcNAc Atlas", "id": "Q14678", "url": "https://oglcnac.org/atlas/detail/Q14678" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q14678", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q14678", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "Q14678", "url": "https://oglcnac.org/atlas/detail/Q14678", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs577156322", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577156322", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs577156322", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs577156322", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs577156322", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577156322", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs577156322", "url": "https://www.ncbi.nlm.nih.gov/snp/rs577156322#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs577156322", "url": "http://gnomad.broadinstitute.org/awesome?query=rs577156322", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q14678", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs577156322", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs577156322", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MTKLKQELQAAGSRKKVDKA", "down_seq": "MAQPLVFSKVVEAVVQTRDQ", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr505", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q14678", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q14678" }, { "id": "Q14678", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q14678" } ] } ], "snv": [ { "evidence": [ { "id": "rs577156322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577156322" }, { "id": "rs577156322", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs577156322" }, { "id": "rs577156322", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577156322" }, { "id": "rs577156322", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs577156322#frequency_tab" }, { "id": "rs577156322", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs577156322" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->K).", "chr_id": "9", "chr_pos": "712280", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T505", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q14678", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678" }, { "id": "rs577156322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577156322" }, { "id": "rs577156322", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs577156322" }, { "id": "rs577156322", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577156322" }, { "id": "rs577156322", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs577156322#frequency_tab" }, { "id": "rs577156322", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs577156322" }, { "id": "rs577156322", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs577156322" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->M).", "chr_id": "9", "chr_pos": "712280", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T505", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs577156322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577156322" }, { "id": "rs577156322", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs577156322" }, { "id": "rs577156322", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577156322" }, { "id": "rs577156322", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs577156322#frequency_tab" }, { "id": "rs577156322", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs577156322" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->R).", "chr_id": "9", "chr_pos": "712280", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T505", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q14678-1.497.497", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.709.709", "start_pos": 709, "end_pos": 709, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q14678", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q14678" }, { "database": "O-GlcNAc Atlas", "id": "Q14678", "url": "https://oglcnac.org/atlas/detail/Q14678" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q14678", "url": "https://oglcnac.org/atlas/detail/Q14678", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1462528671", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1462528671", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1462528671", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1462528671#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ATLIESCTNTCLSTLDKQTS", "down_seq": "QTVETRTVAVGEGRVKDINS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr709", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q14678", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q14678" } ] } ], "snv": [ { "evidence": [ { "id": "rs1462528671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1462528671" }, { "id": "rs1462528671", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1462528671#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "9", "chr_pos": "712891", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T709", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1462528671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1462528671" }, { "id": "rs1462528671", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1462528671#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "9", "chr_pos": "712891", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T709", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.1197.1197", "start_pos": 1197, "end_pos": 1197, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural basis for the recognition of kinesin family member 21A (KIF21A) by the ankyrin domains of KANK1 and KANK2 proteins.", "journal": "The Journal of biological chemistry", "date": "2018", "authors": "Guo Q, Liao S, Zhu Z, Li Y, Li F, Xu C", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "reference": [ { "type": "PubMed", "id": "29183992", "url": "https://glygen.org/publication/PubMed/29183992" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29183992", "url": "https://glygen.org/publication/PubMed/29183992", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "IVKLLLDADVCNVDHQNKAG", "down_seq": "TPIMLAALAAVEAEKDMRIV", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "4.5-fold decrease in binding to KIF21A.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "29183992", "url": "https://glygen.org/publication/PubMed/29183992" } ] }, { "sequence_org": "Y", "sequence_mut": "L", "comment": "Very weak binding affinity for KIF21A.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "29183992", "url": "https://glygen.org/publication/PubMed/29183992" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q14678-1.1185.1185", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q14678-1.1195.1195", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.125.125", "start_pos": 125, "end_pos": 125, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Nucleo-cytoplasmic shuttling of human Kank protein accompanies intracellular translocation of beta-catenin.", "journal": "Journal of cell science", "date": "2006", "authors": "Wang Y, Kakinuma N, Zhu Y, Kiyama R", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "RefSeq", "id": "NP_001243805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243805" } ], "reference": [ { "type": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "NFLIARSQVTSTPISKPPPP", "down_seq": "ETSLPFLTIPENRQLPPPSP", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Nuclear localization; when associated A-43; A-52; A-129; A-134; A-613; A-616; A-620 and A-622.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q14678-1.129.129", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q14678-1.134.134", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.1276.1276", "start_pos": 1276, "end_pos": 1276, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural basis for the recognition of kinesin family member 21A (KIF21A) by the ankyrin domains of KANK1 and KANK2 proteins.", "journal": "The Journal of biological chemistry", "date": "2018", "authors": "Guo Q, Liao S, Zhu Z, Li Y, Li F, Xu C", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "reference": [ { "type": "PubMed", "id": "29183992", "url": "https://glygen.org/publication/PubMed/29183992" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29183992", "url": "https://glygen.org/publication/PubMed/29183992", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "CGADVNIQDDEGSTALMCAS", "down_seq": "HGHVEIVKLLLAQPGCNGHL", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "H", "comment": "Abolishes binding to KIF21A.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "29183992", "url": "https://glygen.org/publication/PubMed/29183992" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.1298.1298", "start_pos": 1298, "end_pos": 1298, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural basis for the recognition of kinesin family member 21A (KIF21A) by the ankyrin domains of KANK1 and KANK2 proteins.", "journal": "The Journal of biological chemistry", "date": "2018", "authors": "Guo Q, Liao S, Zhu Z, Li Y, Li F, Xu C", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "reference": [ { "type": "PubMed", "id": "29183992", "url": "https://glygen.org/publication/PubMed/29183992" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29183992", "url": "https://glygen.org/publication/PubMed/29183992", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GHVEIVKLLLAQPGCNGHLE", "down_seq": "NDGSTALSIALEAGHKDIAV", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "15-fold decrease in binding to KIF21A.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "29183992", "url": "https://glygen.org/publication/PubMed/29183992" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q14678-1.1300.1300", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q14678-1.1301.1301", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.129.129", "start_pos": 129, "end_pos": 129, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Nucleo-cytoplasmic shuttling of human Kank protein accompanies intracellular translocation of beta-catenin.", "journal": "Journal of cell science", "date": "2006", "authors": "Wang Y, Kakinuma N, Zhu Y, Kiyama R", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "RefSeq", "id": "NP_001243805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243805" } ], "reference": [ { "type": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "ARSQVTSTPISKPPPPLETS", "down_seq": "PFLTIPENRQLPPPSPQLPK", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Nuclear localization; when associated A-43; A-52; A-125; A-134; A-613; A-616; A-620 and A-622.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q14678-1.125.125", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q14678-1.134.134", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.1300.1300", "start_pos": 1300, "end_pos": 1300, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structural basis for the recognition of kinesin family member 21A (KIF21A) by the ankyrin domains of KANK1 and KANK2 proteins.", "journal": "The Journal of biological chemistry", "date": "2018", "authors": "Guo Q, Liao S, Zhu Z, Li Y, Li F, Xu C", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "reference": [ { "type": "PubMed", "id": "29183992", "url": "https://glygen.org/publication/PubMed/29183992" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29183992", "url": "https://glygen.org/publication/PubMed/29183992", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VEIVKLLLAQPGCNGHLEDN", "down_seq": "GSTALSIALEAGHKDIAVLL", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "10-fold decrease in binding to KIF21A.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "29183992", "url": "https://glygen.org/publication/PubMed/29183992" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q14678-1.1298.1298", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q14678-1.1301.1301", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.134.134", "start_pos": 134, "end_pos": 134, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Nucleo-cytoplasmic shuttling of human Kank protein accompanies intracellular translocation of beta-catenin.", "journal": "Journal of cell science", "date": "2006", "authors": "Wang Y, Kakinuma N, Zhu Y, Kiyama R", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "RefSeq", "id": "NP_001243805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243805" } ], "reference": [ { "type": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "TSTPISKPPPPLETSLPFLT", "down_seq": "PENRQLPPPSPQLPKHNLHV", "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "Nuclear localization; when associated A-43; A-52; A-125; A-129; A-613; A-616; A-620 and A-622.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q14678-1.125.125", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q14678-1.129.129", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.325.325", "start_pos": 325, "end_pos": 325, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Kank regulates RhoA-dependent formation of actin stress fibers and cell migration via 14-3-3 in PI3K-Akt signaling.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Kakinuma N, Roy BC, Zhu Y, Wang Y, Kiyama R", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "iPTMnet", "id": "Q14678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678" } ], "reference": [ { "type": "PubMed", "id": "18458160", "url": "https://glygen.org/publication/PubMed/18458160" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q14678-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "Q14678-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q14678-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q14678-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "Q14678-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "iPTMnet", "id": "Q14678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "iPTMnet", "id": "Q14678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q14678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18458160", "url": "https://glygen.org/publication/PubMed/18458160", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q14678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LKNQRAASQINVCGVRKRSY", "down_seq": "AGNASQLEQLSRARRSGGEL", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation by PKB. Abolishes interaction with YWHAB; YWHAG; YWHAE; YWHAH; YWHAQ; YWHAZ and SFN.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "18458160", "url": "https://glygen.org/publication/PubMed/18458160" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKB", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "iPTMnet", "id": "Q14678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18458160", "url": "https://glygen.org/publication/PubMed/18458160" } ], "site_lbl": "Ser325" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag", "phosphorylation_flag" ], "glycosylation": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q14678-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q14678-1.323.323", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q14678-1.324.324", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q14678-1.337.337", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.41.41", "start_pos": 41, "end_pos": 41, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Talin-KANK1 interaction controls the recruitment of cortical microtubule stabilizing complexes to focal adhesions.", "journal": "eLife", "date": "2016-07-13", "authors": "Bouchet Benjamin P, Gough Rosemarie E, Ammon York-Christoph, van de Willige Dieudonn\u00e9e, Post Harm, Jacquemet Guillaume, Altelaar Af Maarten, Heck Albert Jr, Goult Benjamin T, Akhmanova Anna", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "reference": [ { "type": "PubMed", "id": "27410476", "url": "https://glygen.org/publication/PubMed/27410476" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "27410476", "url": "https://glygen.org/publication/PubMed/27410476", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "GDQDKEQKDPYFVETPYGYQ", "down_seq": "DLDFLKYVDDIQKGNTIKRL", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Abolishes binding to TLN1 and impairs CMSC assembly at the focal adhesion rims leading to increased microtubule growth rate at the cell periphery; when associated with A-42, A-43 and A-44.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "27410476", "url": "https://glygen.org/publication/PubMed/27410476" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q14678-1.42.42", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q14678-1.43.43", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q14678-1.44.44", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q14678-1.52.52", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q14678-1.58.58", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.42.42", "start_pos": 42, "end_pos": 42, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Talin-KANK1 interaction controls the recruitment of cortical microtubule stabilizing complexes to focal adhesions.", "journal": "eLife", "date": "2016-07-13", "authors": "Bouchet Benjamin P, Gough Rosemarie E, Ammon York-Christoph, van de Willige Dieudonn\u00e9e, Post Harm, Jacquemet Guillaume, Altelaar Af Maarten, Heck Albert Jr, Goult Benjamin T, Akhmanova Anna", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "reference": [ { "type": "PubMed", "id": "27410476", "url": "https://glygen.org/publication/PubMed/27410476" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "27410476", "url": "https://glygen.org/publication/PubMed/27410476", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DQDKEQKDPYFVETPYGYQL", "down_seq": "LDFLKYVDDIQKGNTIKRLN", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes binding to TLN1 and impairs CMSC assembly at the focal adhesion rims leading to increased microtubule growth rate at the cell periphery; when associated with A-41, A-43 and A-44.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "27410476", "url": "https://glygen.org/publication/PubMed/27410476" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q14678-1.41.41", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q14678-1.43.43", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q14678-1.44.44", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q14678-1.52.52", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q14678-1.58.58", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.43.43", "start_pos": 43, "end_pos": 43, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Nucleo-cytoplasmic shuttling of human Kank protein accompanies intracellular translocation of beta-catenin.", "journal": "Journal of cell science", "date": "2006", "authors": "Wang Y, Kakinuma N, Zhu Y, Kiyama R", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "RefSeq", "id": "NP_001243805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243805" } ], "reference": [ { "type": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] }, { "title": "Talin-KANK1 interaction controls the recruitment of cortical microtubule stabilizing complexes to focal adhesions.", "journal": "eLife", "date": "2016-07-13", "authors": "Bouchet Benjamin P, Gough Rosemarie E, Ammon York-Christoph, van de Willige Dieudonn\u00e9e, Post Harm, Jacquemet Guillaume, Altelaar Af Maarten, Heck Albert Jr, Goult Benjamin T, Akhmanova Anna", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "reference": [ { "type": "PubMed", "id": "27410476", "url": "https://glygen.org/publication/PubMed/27410476" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27410476", "url": "https://glygen.org/publication/PubMed/27410476", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "QDKEQKDPYFVETPYGYQLD", "down_seq": "DFLKYVDDIQKGNTIKRLNI", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Nuclear localization; when associated A-52; A-125; A-129; A-134; A-613; A-616; A-620 and A-622. Abolishes binding to TLN1 and impairs CMSC assembly at the focal adhesion rims leading to increased microtubule growth rate at the cell periphery; when associated with A-41, A-42 and A-44.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" }, { "database": "PubMed", "id": "27410476", "url": "https://glygen.org/publication/PubMed/27410476" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q14678-1.41.41", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q14678-1.42.42", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q14678-1.44.44", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q14678-1.52.52", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q14678-1.58.58", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.44.44", "start_pos": 44, "end_pos": 44, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Talin-KANK1 interaction controls the recruitment of cortical microtubule stabilizing complexes to focal adhesions.", "journal": "eLife", "date": "2016-07-13", "authors": "Bouchet Benjamin P, Gough Rosemarie E, Ammon York-Christoph, van de Willige Dieudonn\u00e9e, Post Harm, Jacquemet Guillaume, Altelaar Af Maarten, Heck Albert Jr, Goult Benjamin T, Akhmanova Anna", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "reference": [ { "type": "PubMed", "id": "27410476", "url": "https://glygen.org/publication/PubMed/27410476" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "27410476", "url": "https://glygen.org/publication/PubMed/27410476", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DKEQKDPYFVETPYGYQLDL", "down_seq": "FLKYVDDIQKGNTIKRLNIQ", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes binding to TLN1 and impairs CMSC assembly at the focal adhesion rims leading to increased microtubule growth rate at the cell periphery; when associated with A-41, A-42 and A-43.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "27410476", "url": "https://glygen.org/publication/PubMed/27410476" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q14678-1.41.41", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q14678-1.42.42", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q14678-1.43.43", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q14678-1.52.52", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q14678-1.58.58", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.52.52", "start_pos": 52, "end_pos": 52, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Nucleo-cytoplasmic shuttling of human Kank protein accompanies intracellular translocation of beta-catenin.", "journal": "Journal of cell science", "date": "2006", "authors": "Wang Y, Kakinuma N, Zhu Y, Kiyama R", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "RefSeq", "id": "NP_001243805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243805" } ], "reference": [ { "type": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "FVETPYGYQLDLDFLKYVDD", "down_seq": "QKGNTIKRLNIQKRRKPSVP", "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "Nuclear localization; when associated A-43; A-125; A-129; A-134; A-613; A-616; A-620 and A-622.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q14678-1.41.41", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q14678-1.42.42", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q14678-1.43.43", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q14678-1.44.44", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q14678-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q14678-1.65.68", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.613.613", "start_pos": 613, "end_pos": 613, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Nucleo-cytoplasmic shuttling of human Kank protein accompanies intracellular translocation of beta-catenin.", "journal": "Journal of cell science", "date": "2006", "authors": "Wang Y, Kakinuma N, Zhu Y, Kiyama R", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "RefSeq", "id": "NP_001243805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243805" } ], "reference": [ { "type": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "VSVEVSVCETGSNTEESVND", "down_seq": "TLLKTNLNLKEVRSIGCGDC", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Nuclear localization; when associated A-43; A-52; A-125; A-129; A-134; A-616; A-620 and A-622.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q14678-1.604.604", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q14678-1.612.612", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q14678-1.616.616", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q14678-1.620.620", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q14678-1.621.621", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q14678-1.622.622", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q14678-1.626.626", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.616.616", "start_pos": 616, "end_pos": 616, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Nucleo-cytoplasmic shuttling of human Kank protein accompanies intracellular translocation of beta-catenin.", "journal": "Journal of cell science", "date": "2006", "authors": "Wang Y, Kakinuma N, Zhu Y, Kiyama R", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "RefSeq", "id": "NP_001243805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243805" } ], "reference": [ { "type": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "EVSVCETGSNTEESVNDLTL", "down_seq": "KTNLNLKEVRSIGCGDCSVD", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Nuclear localization; when associated A-43; A-52; A-125; A-129; A-134; A-613; A-620 and A-622.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q14678-1.604.604", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q14678-1.612.612", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q14678-1.613.613", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q14678-1.620.620", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q14678-1.621.621", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q14678-1.622.622", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q14678-1.626.626", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.620.620", "start_pos": 620, "end_pos": 620, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Nucleo-cytoplasmic shuttling of human Kank protein accompanies intracellular translocation of beta-catenin.", "journal": "Journal of cell science", "date": "2006", "authors": "Wang Y, Kakinuma N, Zhu Y, Kiyama R", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "RefSeq", "id": "NP_001243805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243805" } ], "reference": [ { "type": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "CETGSNTEESVNDLTLLKTN", "down_seq": "NLKEVRSIGCGDCSVDVTVC", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Nuclear localization; when associated A-43; A-52; A-125; A-129; A-134; A-613; A-616 and A-622.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q14678-1.604.604", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q14678-1.612.612", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q14678-1.613.613", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q14678-1.616.616", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q14678-1.621.621", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q14678-1.622.622", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q14678-1.626.626", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.622.622", "start_pos": 622, "end_pos": 622, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Nucleo-cytoplasmic shuttling of human Kank protein accompanies intracellular translocation of beta-catenin.", "journal": "Journal of cell science", "date": "2006", "authors": "Wang Y, Kakinuma N, Zhu Y, Kiyama R", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "RefSeq", "id": "NP_001243805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243805" } ], "reference": [ { "type": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "TGSNTEESVNDLTLLKTNLN", "down_seq": "KEVRSIGCGDCSVDVTVCSP", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Nuclear localization; when associated A-43; A-52; A-125; A-129; A-134; A-613; A-616 and A-620.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q14678-1.604.604", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q14678-1.612.612", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q14678-1.613.613", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q14678-1.616.616", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q14678-1.620.620", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q14678-1.621.621", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q14678-1.626.626", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.65.68", "start_pos": 65, "end_pos": 68, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Nucleo-cytoplasmic shuttling of human Kank protein accompanies intracellular translocation of beta-catenin.", "journal": "Journal of cell science", "date": "2006", "authors": "Wang Y, Kakinuma N, Zhu Y, Kiyama R", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "RefSeq", "id": "NP_001243805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243805" } ], "reference": [ { "type": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "KRRK", "start_aa": "K", "up_seq": "FLKYVDDIQKGNTIKRLNIQ", "down_seq": "PSVPCPEPRTTSGQQGIWTS", "mutagenesis": [ { "sequence_org": "KRRK", "sequence_mut": "AAAA", "comment": "Enhanced cytoplasmic localization; when associated with 979-A--A-981 and 991-A-A-992.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q14678-1.52.52", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q14678-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q14678-1.87.87", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.979.981", "start_pos": 979, "end_pos": 981, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Nucleo-cytoplasmic shuttling of human Kank protein accompanies intracellular translocation of beta-catenin.", "journal": "Journal of cell science", "date": "2006", "authors": "Wang Y, Kakinuma N, Zhu Y, Kiyama R", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "RefSeq", "id": "NP_001243805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243805" } ], "reference": [ { "type": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "KKK", "start_aa": "K", "up_seq": "QIAAGLYACTNNESTLKSIM", "down_seq": "DGNKDSNGAKKNLQFVGING", "mutagenesis": [ { "sequence_org": "KKK", "sequence_mut": "AAA", "comment": "Enhanced cytoplasmic localization; when associated with 65-A--A-68 and 991-A-A-992.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q14678-1.990.990", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q14678-1.991.992", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.991.992", "start_pos": 991, "end_pos": 992, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Nucleo-cytoplasmic shuttling of human Kank protein accompanies intracellular translocation of beta-catenin.", "journal": "Journal of cell science", "date": "2006", "authors": "Wang Y, Kakinuma N, Zhu Y, Kiyama R", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "RefSeq", "id": "NP_001243805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243805" } ], "reference": [ { "type": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "KK", "start_aa": "K", "up_seq": "ESTLKSIMKKKDGNKDSNGA", "down_seq": "NLQFVGINGGYETTSSDDSS", "mutagenesis": [ { "sequence_org": "KK", "sequence_mut": "AA", "comment": "Enhanced cytoplasmic localization; when associated with 65-A--68 and 979-A--A-981.", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "16968744", "url": "https://glygen.org/publication/PubMed/16968744" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q14678-1.979.981", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q14678-1.990.990", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q14678-1.1002.1002", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q14678-1.1009.1009", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.1002.1002", "start_pos": 1002, "end_pos": 1002, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs374492770", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374492770", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs374492770", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374492770", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs374492770", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374492770#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs374492770", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374492770", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs374492770", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374492770", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "DGNKDSNGAKKNLQFVGING", "down_seq": "YETTSSDDSSSDESSSSESD", "snv": [ { "evidence": [ { "id": "rs374492770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374492770" }, { "id": "rs374492770", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374492770" }, { "id": "rs374492770", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374492770#frequency_tab" }, { "id": "rs374492770", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374492770" }, { "id": "rs374492770", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374492770" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NGG->NGS).", "chr_id": "9", "chr_pos": "738429", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1002", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q14678-1.990.990", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q14678-1.991.992", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q14678-1.1009.1009", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q14678-1.1016.1016", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q14678-1.1019.1019", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.1009.1009", "start_pos": 1009, "end_pos": 1009, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs775551364", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775551364", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775551364", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775551364", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775551364", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775551364#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs775551364", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775551364", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs775551364", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775551364", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs1564139983", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1564139983", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1564139983", "url": "https://www.ensembl.org/id/rs1564139983", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GAKKNLQFVGINGGYETTSS", "down_seq": "DSSSDESSSSESDDECDVIE", "snv": [ { "evidence": [ { "id": "rs775551364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775551364" }, { "id": "rs775551364", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775551364" }, { "id": "rs775551364", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775551364#frequency_tab" }, { "id": "rs775551364", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775551364" }, { "id": "rs775551364", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775551364" }, { "id": "rs1564139983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1564139983" }, { "id": "rs1564139983", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1564139983" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "9", "chr_pos": "738504", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1009", "keywords": [ "ebi", "somatic", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q14678-1.990.990", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q14678-1.991.992", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q14678-1.1002.1002", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q14678-1.1016.1016", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q14678-1.1019.1019", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q14678-1.1023.1023", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.1016.1016", "start_pos": 1016, "end_pos": 1016, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1159871130", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159871130", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1159871130", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159871130", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FVGINGGYETTSSDDSSSDE", "down_seq": "SSSESDDECDVIEYPLEEEE", "snv": [ { "evidence": [ { "id": "rs1159871130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159871130" }, { "id": "rs1159871130", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159871130" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "9", "chr_pos": "732419", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1016", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q14678-1.1002.1002", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q14678-1.1009.1009", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q14678-1.1019.1019", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q14678-1.1023.1023", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.1019.1019", "start_pos": 1019, "end_pos": 1019, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs774221812", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774221812", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774221812", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774221812", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774221812", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774221812", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "INGGYETTSSDDSSSDESSS", "down_seq": "ESDDECDVIEYPLEEEEEEE", "snv": [ { "evidence": [ { "id": "rs774221812", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774221812" }, { "id": "rs774221812", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774221812" }, { "id": "rs774221812", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774221812" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SES->NES).", "chr_id": "9", "chr_pos": "742332", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1019", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q14678-1.1002.1002", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q14678-1.1009.1009", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q14678-1.1016.1016", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q14678-1.1023.1023", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.1023.1023", "start_pos": 1023, "end_pos": 1023, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1165245046", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1165245046", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1165245046", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1165245046", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "YETTSSDDSSSDESSSSESD", "down_seq": "ECDVIEYPLEEEEEEEDEDT", "snv": [ { "evidence": [ { "id": "rs1165245046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1165245046" }, { "id": "rs1165245046", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1165245046" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DEC->NEC).", "chr_id": "9", "chr_pos": "732439", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1023", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q14678-1.1009.1009", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q14678-1.1016.1016", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q14678-1.1019.1019", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.10.10", "start_pos": 10, "end_pos": 10, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q14678", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs781523271", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781523271", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781523271", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781523271", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs781523271", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781523271", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MAHTTKVNG", "down_seq": "ASGKAGDILSGDQDKEQKDP", "snv": [ { "evidence": [ { "id": "Q14678", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678" }, { "id": "rs781523271", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781523271" }, { "id": "rs781523271", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781523271" }, { "id": "rs781523271", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781523271" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SAS->NAS).", "chr_id": "9", "chr_pos": "677001", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S10", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.1100.1100", "start_pos": 1100, "end_pos": 1100, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1416304998", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1416304998", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1416304998", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1416304998", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "RERYELSEKMLSACNLLKNT", "down_seq": "NDPKALTSKDMRFCLNTLQH", "snv": [ { "evidence": [ { "id": "rs1416304998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1416304998" }, { "id": "rs1416304998", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1416304998" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTI->NTT).", "chr_id": "9", "chr_pos": "734801", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1100", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q14678-1.1083.1083", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.1158.1158", "start_pos": 1158, "end_pos": 1158, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs979757612", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs979757612", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs979757612", "url": "https://www.ncbi.nlm.nih.gov/snp/rs979757612#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs979757612", "url": "http://gnomad.broadinstitute.org/awesome?query=rs979757612", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "DYIAAFEAISPDVLRYVINL", "down_seq": "DGNGNTALHYSVSHSNFEIV", "snv": [ { "evidence": [ { "id": "rs979757612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs979757612" }, { "id": "rs979757612", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs979757612#frequency_tab" }, { "id": "rs979757612", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs979757612" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "9", "chr_pos": "738423", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1158", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q14678-1.1163.1163", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q14678-1.1165.1165", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.1163.1163", "start_pos": 1163, "end_pos": 1163, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs947918149", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs947918149", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs947918149", "url": "https://www.ensembl.org/id/rs947918149", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "FEAISPDVLRYVINLADGNG", "down_seq": "TALHYSVSHSNFEIVKLLLD", "snv": [ { "evidence": [ { "id": "rs947918149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs947918149" }, { "id": "rs947918149", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs947918149" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGN->NGS).", "chr_id": "9", "chr_pos": "738439", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1163", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q14678-1.1158.1158", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q14678-1.1165.1165", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.1165.1165", "start_pos": 1165, "end_pos": 1165, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs201528657", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201528657", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs201528657", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201528657", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs201528657", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201528657", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs201528657", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201528657#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs201528657", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201528657", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "AISPDVLRYVINLADGNGNT", "down_seq": "LHYSVSHSNFEIVKLLLDAD", "snv": [ { "evidence": [ { "id": "rs201528657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201528657" }, { "id": "rs201528657", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201528657" }, { "id": "rs201528657", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201528657" }, { "id": "rs201528657", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201528657#frequency_tab" }, { "id": "rs201528657", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201528657" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTA->NTT).", "chr_id": "9", "chr_pos": "738444", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A1165", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q14678-1.1158.1158", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q14678-1.1163.1163", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q14678-1.1185.1185", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.1185.1185", "start_pos": 1185, "end_pos": 1185, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q14678", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs775551364", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775551364", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775551364", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775551364", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775551364", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775551364#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs775551364", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775551364", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs775551364", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775551364", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ALHYSVSHSNFEIVKLLLDA", "down_seq": "VCNVDHQNKAGYTPIMLAAL", "snv": [ { "evidence": [ { "id": "Q14678", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678" }, { "id": "rs775551364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775551364" }, { "id": "rs775551364", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775551364" }, { "id": "rs775551364", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775551364#frequency_tab" }, { "id": "rs775551364", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775551364" }, { "id": "rs775551364", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775551364" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DVC->NVC).", "chr_id": "9", "chr_pos": "738504", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D1185", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q14678-1.1165.1165", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q14678-1.1195.1195", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q14678-1.1197.1197", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.1195.1195", "start_pos": 1195, "end_pos": 1195, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q14678", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "FEIVKLLLDADVCNVDHQNK", "down_seq": "GYTPIMLAALAAVEAEKDMR", "snv": [ { "evidence": [ { "id": "Q14678", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NKA->NKT).", "chr_id": "9", "chr_pos": "740821", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A1195", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q14678-1.1185.1185", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q14678-1.1197.1197", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.1245.1245", "start_pos": 1245, "end_pos": 1245, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q14678", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "DVNAKASQAGQTALMLAVSH", "down_seq": "RIDMVKGLLACGADVNIQDD", "snv": [ { "evidence": [ { "id": "Q14678", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "742241", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G1245", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.1301.1301", "start_pos": 1301, "end_pos": 1301, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2540856859", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2540856859", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "EIVKLLLAQPGCNGHLEDND", "down_seq": "STALSIALEAGHKDIAVLLY", "snv": [ { "evidence": [ { "id": "rs2540856859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2540856859" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NDG->NDS).", "chr_id": "9", "chr_pos": "744494", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1301", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q14678-1.1298.1298", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q14678-1.1300.1300", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.1340.1340", "start_pos": 1340, "end_pos": 1340, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1183735128", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1183735128", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1183735128", "url": "https://www.ensembl.org/id/rs1183735128", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LYAHVNFAKAQSPGTPRLGR", "down_seq": "TSPGPTHRGSFD", "snv": [ { "evidence": [ { "id": "rs1183735128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1183735128" }, { "id": "rs1183735128", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1183735128" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KTS->NTS).", "chr_id": "9", "chr_pos": "745196", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1340", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.192.192", "start_pos": 192, "end_pos": 192, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q14678", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs371323213", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371323213", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs371323213", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371323213", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs371323213", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371323213#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs371323213", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371323213", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs371323213", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371323213", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MQMTPGEFRRPRLASFGGMG", "down_seq": "TSSLPSFVGSGNHNPAKHQL", "snv": [ { "evidence": [ { "id": "Q14678", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678" }, { "id": "rs371323213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371323213" }, { "id": "rs371323213", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371323213" }, { "id": "rs371323213", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371323213#frequency_tab" }, { "id": "rs371323213", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371323213" }, { "id": "rs371323213", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371323213" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TTS->NTS).", "chr_id": "9", "chr_pos": "711341", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T192", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q14678-1.186.186", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q14678-1.206.206", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.206.206", "start_pos": 206, "end_pos": 206, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs377574279", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377574279", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs377574279", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377574279", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs377574279", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377574279#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs377574279", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377574279", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs377574279", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs377574279", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "SFGGMGTTSSLPSFVGSGNH", "down_seq": "PAKHQLQNGYQGNGDYGSYA", "snv": [ { "evidence": [ { "id": "rs377574279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377574279" }, { "id": "rs377574279", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377574279" }, { "id": "rs377574279", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377574279#frequency_tab" }, { "id": "rs377574279", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377574279" }, { "id": "rs377574279", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs377574279" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NHN->NHS).", "chr_id": "9", "chr_pos": "711383", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N206", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q14678-1.186.186", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q14678-1.192.192", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.248.248", "start_pos": 248, "end_pos": 248, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs142650923", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142650923", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs142650923", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142650923", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs142650923", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142650923#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs142650923", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142650923", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "AAPTTSSMGSSIRHSPLSSG", "down_seq": "STPVTNVSPMHLQHIREQMA", "snv": [ { "evidence": [ { "id": "rs142650923", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142650923" }, { "id": "rs142650923", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142650923" }, { "id": "rs142650923", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142650923#frequency_tab" }, { "id": "rs142650923", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142650923" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IST->NST).", "chr_id": "9", "chr_pos": "711509", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I248", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.290.290", "start_pos": 290, "end_pos": 290, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q14678", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1265416649", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1265416649", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1265416649", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1265416649", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ALKRLKELEEQVRTIPVLQV", "down_seq": "ISVLQEEKRQLVSQLKNQRA", "snv": [ { "evidence": [ { "id": "Q14678", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678" }, { "id": "rs1265416649", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1265416649" }, { "id": "rs1265416649", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1265416649" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KIS->NIS).", "chr_id": "9", "chr_pos": "711636", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K290", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q14678-1.309.309", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.309.309", "start_pos": 309, "end_pos": 309, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1826142630", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1826142630", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1826142630", "url": "https://www.ensembl.org/id/rs1826142630", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VKISVLQEEKRQLVSQLKNQ", "down_seq": "AASQINVCGVRKRSYSAGNA", "snv": [ { "evidence": [ { "id": "rs1826142630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1826142630" }, { "id": "rs1826142630", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1826142630" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQR->NQT).", "chr_id": "9", "chr_pos": "711692", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R309", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q14678-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q14678-1.323.323", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q14678-1.324.324", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q14678-1.325.325", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.337.337", "start_pos": 337, "end_pos": 337, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q14678", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CGVRKRSYSAGNASQLEQLS", "down_seq": "ARRSGGELYIDYEEEEMETV", "snv": [ { "evidence": [ { "id": "Q14678", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "711776", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R337", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q14678-1.323.323", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q14678-1.324.324", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q14678-1.325.325", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.361.361", "start_pos": 361, "end_pos": 361, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q14678", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SGGELYIDYEEEEMETVEQS", "down_seq": "QRIKEFRQLTADMQALEQKI", "snv": [ { "evidence": [ { "id": "Q14678", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "711848", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T361", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.383.383", "start_pos": 383, "end_pos": 383, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs778555728", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778555728", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778555728", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778555728", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778555728", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778555728#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs778555728", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778555728", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RIKEFRQLTADMQALEQKIQ", "down_seq": "SSCEASSELRENGECRSVAV", "snv": [ { "evidence": [ { "id": "rs778555728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778555728" }, { "id": "rs778555728", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778555728" }, { "id": "rs778555728", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778555728#frequency_tab" }, { "id": "rs778555728", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778555728" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "9", "chr_pos": "711913", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D383", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q14678-1.384.384", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.384.384", "start_pos": 384, "end_pos": 384, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs577267993", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577267993", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs577267993", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs577267993", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs577267993", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577267993", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs577267993", "url": "http://gnomad.broadinstitute.org/awesome?query=rs577267993", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IKEFRQLTADMQALEQKIQD", "down_seq": "SCEASSELRENGECRSVAVG", "snv": [ { "evidence": [ { "id": "rs577267993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577267993" }, { "id": "rs577267993", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs577267993" }, { "id": "rs577267993", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577267993" }, { "id": "rs577267993", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs577267993" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSC->NSC).", "chr_id": "9", "chr_pos": "711917", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "S384", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q14678-1.383.383", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.412.412", "start_pos": 412, "end_pos": 412, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs749006058", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749006058", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749006058", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749006058", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs749006058", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749006058", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "LRENGECRSVAVGAEENMND", "down_seq": "VVYHRGSRSCKDAAVGTLVE", "snv": [ { "evidence": [ { "id": "rs749006058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749006058" }, { "id": "rs749006058", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749006058" }, { "id": "rs749006058", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749006058" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDI->NDT).", "chr_id": "9", "chr_pos": "712475", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I412", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q14678-1.414.414", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.414.414", "start_pos": 414, "end_pos": 414, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q14678", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "ENGECRSVAVGAEENMNDIV", "down_seq": "YHRGSRSCKDAAVGTLVEMR", "snv": [ { "evidence": [ { "id": "Q14678", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "9", "chr_pos": "712006", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V414", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q14678-1.412.412", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.536.536", "start_pos": 536, "end_pos": 536, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q14678", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VEAVVQTRDQMVGSHMDLVD", "down_seq": "CVGTSVETNSVGISCQPECK", "snv": [ { "evidence": [ { "id": "Q14678", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "712373", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T536", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.569.569", "start_pos": 569, "end_pos": 569, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs769451030", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769451030", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs769451030", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769451030", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs769451030", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769451030#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs769451030", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769451030", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "ISCQPECKNKVVGPELPMNW", "down_seq": "IVKERVEMHDRCAGRSVEMC", "snv": [ { "evidence": [ { "id": "rs769451030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769451030" }, { "id": "rs769451030", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769451030" }, { "id": "rs769451030", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769451030#frequency_tab" }, { "id": "rs769451030", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769451030" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NWW->NWC).", "chr_id": "9", "chr_pos": "712473", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W569", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q14678-1.579.579", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.579.579", "start_pos": 579, "end_pos": 579, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs763297076", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763297076", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763297076", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763297076", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763297076", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763297076#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs763297076", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763297076", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VVGPELPMNWWIVKERVEMH", "down_seq": "RCAGRSVEMCDKSVSVEVSV", "snv": [ { "evidence": [ { "id": "rs763297076", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763297076" }, { "id": "rs763297076", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763297076" }, { "id": "rs763297076", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763297076#frequency_tab" }, { "id": "rs763297076", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763297076" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DRC->NRC).", "chr_id": "9", "chr_pos": "712501", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D579", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q14678-1.569.569", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.58.58", "start_pos": 58, "end_pos": 58, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs997955641", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs997955641", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs997955641", "url": "https://www.ncbi.nlm.nih.gov/snp/rs997955641#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs997955641", "url": "http://gnomad.broadinstitute.org/awesome?query=rs997955641", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "GYQLDLDFLKYVDDIQKGNT", "down_seq": "KRLNIQKRRKPSVPCPEPRT", "snv": [ { "evidence": [ { "id": "rs997955641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs997955641" }, { "id": "rs997955641", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs997955641#frequency_tab" }, { "id": "rs997955641", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs997955641" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTI->NTT).", "chr_id": "9", "chr_pos": "710939", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I58", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q14678-1.41.41", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q14678-1.42.42", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q14678-1.43.43", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q14678-1.44.44", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q14678-1.52.52", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q14678-1.65.68", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.604.604", "start_pos": 604, "end_pos": 604, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q14678", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs754470891", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754470891", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs754470891", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754470891", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs754470891", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754470891#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs754470891", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754470891", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs754470891", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs754470891", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RSVEMCDKSVSVEVSVCETG", "down_seq": "NTEESVNDLTLLKTNLNLKE", "snv": [ { "evidence": [ { "id": "Q14678", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678" }, { "id": "rs754470891", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754470891" }, { "id": "rs754470891", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754470891" }, { "id": "rs754470891", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754470891#frequency_tab" }, { "id": "rs754470891", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754470891" }, { "id": "rs754470891", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs754470891" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SNT->NNT).", "chr_id": "9", "chr_pos": "712577", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S604", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:10970", "recommended_name": { "id": "DOID:10970", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10970", "name": "spastic quadriplegic cerebral palsy", "description": "A spastic cerebral palsy that is characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth, affecting all four limbs, and with difficulty with walking and talking." }, "synonyms": [ { "id": "DOID:10970", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10970", "name": "quadriplegic infantile cerebral palsy", "description": "" }, { "id": "DOID:10970", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10970", "name": "tetraplegic infantile cerebral palsy", "description": "" }, { "id": "DOID:10970", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10970", "name": "spastic quadriplegia", "description": "" }, { "id": "DOID:10970", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10970", "name": "inherited congenital spastic quadriplegia", "description": "" }, { "id": "DOID:10970", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10970", "name": "inherited congenital spastic tetraplegia", "description": "" }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "cerebral palsy, spastic quadriplegic, 2", "description": "Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene." }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "KANK1 spastic quadriplegia", "description": "" }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "cerebral palsy, spastic quadriplegic, 2", "description": "" }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "cerebral palsy, spastic quadriplegic, type 2", "description": "" }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "spastic quadriplegia caused by mutation in KANK1", "description": "" }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "CPSQ2", "description": "" }, { "id": "MIM:612900", "resource": "MIM", "url": "https://www.omim.org/entry/612900", "name": "Cerebral palsy, spastic quadriplegic 2", "description": "Cerebral palsy, spastic quadriplegic 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "612900", "database": "MIM", "url": "https://www.omim.org/entry/612900" } ] }, { "disease_id": "DOID:0081360", "recommended_name": { "id": "DOID:0081360", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081360", "name": "spastic quadriplegic cerebral palsy 2", "description": "A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele." }, "synonyms": [ { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "cerebral palsy, spastic quadriplegic, 2", "description": "Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene." }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "KANK1 spastic quadriplegia", "description": "" }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "cerebral palsy, spastic quadriplegic, 2", "description": "" }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "cerebral palsy, spastic quadriplegic, type 2", "description": "" }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "spastic quadriplegia caused by mutation in KANK1", "description": "" }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "CPSQ2", "description": "" }, { "id": "MIM:612900", "resource": "MIM", "url": "https://www.omim.org/entry/612900", "name": "Cerebral palsy, spastic quadriplegic 2", "description": "Cerebral palsy, spastic quadriplegic 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "612900", "database": "MIM", "url": "https://www.omim.org/entry/612900" }, { "id": "0081360", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081360" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q14678-1.612.612", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q14678-1.613.613", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q14678-1.616.616", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q14678-1.620.620", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q14678-1.621.621", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q14678-1.622.622", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.612.612", "start_pos": 612, "end_pos": 612, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1197583692", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1197583692", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1197583692", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1197583692#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1197583692", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1197583692", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SVSVEVSVCETGSNTEESVN", "down_seq": "LTLLKTNLNLKEVRSIGCGD", "snv": [ { "evidence": [ { "id": "rs1197583692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1197583692" }, { "id": "rs1197583692", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1197583692#frequency_tab" }, { "id": "rs1197583692", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1197583692" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "9", "chr_pos": "712600", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D612", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q14678-1.604.604", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q14678-1.613.613", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q14678-1.616.616", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q14678-1.620.620", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q14678-1.621.621", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q14678-1.622.622", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q14678-1.626.626", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.621.621", "start_pos": 621, "end_pos": 621, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1326671630", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1326671630", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1326671630", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1326671630", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ETGSNTEESVNDLTLLKTNL", "down_seq": "LKEVRSIGCGDCSVDVTVCS", "snv": [ { "evidence": [ { "id": "rs1326671630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1326671630" }, { "id": "rs1326671630", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1326671630" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLN->NLT).", "chr_id": "9", "chr_pos": "712628", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N621", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q14678-1.604.604", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q14678-1.612.612", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q14678-1.613.613", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q14678-1.616.616", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q14678-1.620.620", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q14678-1.622.622", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q14678-1.626.626", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.626.626", "start_pos": 626, "end_pos": 626, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q14678", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TEESVNDLTLLKTNLNLKEV", "down_seq": "SIGCGDCSVDVTVCSPKECA", "snv": [ { "evidence": [ { "id": "Q14678", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "712642", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R626", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q14678-1.612.612", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q14678-1.613.613", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q14678-1.616.616", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q14678-1.620.620", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q14678-1.621.621", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q14678-1.622.622", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.672.672", "start_pos": 672, "end_pos": 672, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs988871373", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs988871373", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs988871373", "url": "https://www.ncbi.nlm.nih.gov/snp/rs988871373#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs988871373", "url": "http://gnomad.broadinstitute.org/awesome?query=rs988871373", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "TEAVSQVEAAVMAVPRTADQ", "down_seq": "TSTDLEQVHQFTNTETATLI", "snv": [ { "evidence": [ { "id": "rs988871373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs988871373" }, { "id": "rs988871373", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs988871373#frequency_tab" }, { "id": "rs988871373", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs988871373" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "9", "chr_pos": "712780", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D672", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.757.757", "start_pos": 757, "end_pos": 757, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs538447950", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs538447950", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs538447950", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs538447950", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs538447950", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs538447950", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs538447950", "url": "https://www.ncbi.nlm.nih.gov/snp/rs538447950#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs538447950", "url": "http://gnomad.broadinstitute.org/awesome?query=rs538447950", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GVGTLLSGHSGFDRPSAVKT", "down_seq": "ESGVGQININDNYLVGLKMR", "snv": [ { "evidence": [ { "id": "rs538447950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs538447950" }, { "id": "rs538447950", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs538447950" }, { "id": "rs538447950", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs538447950" }, { "id": "rs538447950", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs538447950#frequency_tab" }, { "id": "rs538447950", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs538447950" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KES->NES).", "chr_id": "9", "chr_pos": "713037", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "K757", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q14678-1.769.769", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.769.769", "start_pos": 769, "end_pos": 769, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs966452474", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs966452474", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs966452474", "url": "https://www.ensembl.org/id/rs966452474", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "DRPSAVKTKESGVGQININD", "down_seq": "YLVGLKMRTIACGPPQLTVG", "snv": [ { "evidence": [ { "id": "rs966452474", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs966452474" }, { "id": "rs966452474", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs966452474" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDN->NDS).", "chr_id": "9", "chr_pos": "713072", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N769", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q14678-1.757.757", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.87.87", "start_pos": 87, "end_pos": 87, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1394287968", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1394287968", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1394287968", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1394287968", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RKPSVPCPEPRTTSGQQGIW", "down_seq": "STESLSSSNSDDNKQCPNFL", "snv": [ { "evidence": [ { "id": "rs1394287968", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1394287968" }, { "id": "rs1394287968", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1394287968" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TST->NST).", "chr_id": "9", "chr_pos": "711026", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T87", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q14678-1.65.68", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q14678-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q14678-1.99.99", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.89.89", "start_pos": 89, "end_pos": 89, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2539673857", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2539673857", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PSVPCPEPRTTSGQQGIWTS", "down_seq": "ESLSSSNSDDNKQCPNFLIA", "snv": [ { "evidence": [ { "id": "rs2539673857", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2539673857" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TES->NES).", "chr_id": "9", "chr_pos": "711032", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T89", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q14678-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q14678-1.99.99", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.990.990", "start_pos": 990, "end_pos": 990, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs138899296", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138899296", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs138899296", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138899296", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs138899296", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138899296#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs138899296", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138899296", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q14678", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs761274891", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761274891", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs761274891", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761274891", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs761274891", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761274891", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs138899296", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138899296", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "NESTLKSIMKKKDGNKDSNG", "down_seq": "KKNLQFVGINGGYETTSSDD", "snv": [ { "evidence": [ { "id": "rs138899296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138899296" }, { "id": "rs138899296", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138899296" }, { "id": "rs138899296", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138899296#frequency_tab" }, { "id": "rs138899296", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138899296" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGA->NGS).", "chr_id": "9", "chr_pos": "731229", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A990", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q14678", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678" }, { "id": "rs761274891", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761274891" }, { "id": "rs761274891", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761274891" }, { "id": "rs761274891", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761274891" }, { "id": "rs138899296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138899296" }, { "id": "rs138899296", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138899296" }, { "id": "rs138899296", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138899296#frequency_tab" }, { "id": "rs138899296", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138899296" }, { "id": "rs138899296", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138899296" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "9", "chr_pos": "731229", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A990", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10970", "recommended_name": { "id": "DOID:10970", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10970", "name": "spastic quadriplegic cerebral palsy", "description": "A spastic cerebral palsy that is characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth, affecting all four limbs, and with difficulty with walking and talking." }, "synonyms": [ { "id": "DOID:10970", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10970", "name": "quadriplegic infantile cerebral palsy", "description": "" }, { "id": "DOID:10970", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10970", "name": "tetraplegic infantile cerebral palsy", "description": "" }, { "id": "DOID:10970", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10970", "name": "spastic quadriplegia", "description": "" }, { "id": "DOID:10970", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10970", "name": "inherited congenital spastic quadriplegia", "description": "" }, { "id": "DOID:10970", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10970", "name": "inherited congenital spastic tetraplegia", "description": "" }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "cerebral palsy, spastic quadriplegic, 2", "description": "Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene." }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "KANK1 spastic quadriplegia", "description": "" }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "cerebral palsy, spastic quadriplegic, 2", "description": "" }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "cerebral palsy, spastic quadriplegic, type 2", "description": "" }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "spastic quadriplegia caused by mutation in KANK1", "description": "" }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "CPSQ2", "description": "" }, { "id": "MIM:612900", "resource": "MIM", "url": "https://www.omim.org/entry/612900", "name": "Cerebral palsy, spastic quadriplegic 2", "description": "Cerebral palsy, spastic quadriplegic 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "612900", "database": "MIM", "url": "https://www.omim.org/entry/612900" } ] }, { "disease_id": "DOID:0081360", "recommended_name": { "id": "DOID:0081360", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081360", "name": "spastic quadriplegic cerebral palsy 2", "description": "A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele." }, "synonyms": [ { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "cerebral palsy, spastic quadriplegic, 2", "description": "Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene." }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "KANK1 spastic quadriplegia", "description": "" }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "cerebral palsy, spastic quadriplegic, 2", "description": "" }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "cerebral palsy, spastic quadriplegic, type 2", "description": "" }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "spastic quadriplegia caused by mutation in KANK1", "description": "" }, { "id": "MONDO:0013033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013033", "name": "CPSQ2", "description": "" }, { "id": "MIM:612900", "resource": "MIM", "url": "https://www.omim.org/entry/612900", "name": "Cerebral palsy, spastic quadriplegic 2", "description": "Cerebral palsy, spastic quadriplegic 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "612900", "database": "MIM", "url": "https://www.omim.org/entry/612900" }, { "id": "0081360", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081360" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q14678-1.979.981", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q14678-1.991.992", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q14678-1.1002.1002", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q14678-1.1009.1009", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.99.99", "start_pos": 99, "end_pos": 99, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q14678", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "TSGQQGIWTSTESLSSSNSD", "down_seq": "NKQCPNFLIARSQVTSTPIS", "snv": [ { "evidence": [ { "id": "Q14678", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14678" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "711061", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D99", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q14678-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q14678-1.89.89", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q14678-1.186.186", "start_pos": 186, "end_pos": 186, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "iPTMnet", "id": "Q14678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q14678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EQERATMQMTPGEFRRPRLA", "down_seq": "FGGMGTTSSLPSFVGSGNHN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q14678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678" } ], "site_lbl": "Ser186" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q14678-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q14678-1.206.206", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.323.323", "start_pos": 323, "end_pos": 323, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q14678-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q14678-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "Q14678-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678-1" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q14678-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "Q14678-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] } ], "crossref": [ { "id": "Q14678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SQLKNQRAASQINVCGVRKR", "down_seq": "YSAGNASQLEQLSRARRSGG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q14678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser323" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q14678-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q14678-1.324.324", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q14678-1.325.325", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q14678-1.337.337", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.324.324", "start_pos": 324, "end_pos": 324, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q14678-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q14678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "QLKNQRAASQINVCGVRKRS", "down_seq": "SAGNASQLEQLSRARRSGGE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q14678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Tyr324" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q14678-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q14678-1.323.323", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q14678-1.325.325", "categories": [ "mutagenesis_flag", "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q14678-1.337.337", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.879.879", "start_pos": 879, "end_pos": 879, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "Q14678-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] } ], "crossref": [ { "id": "Q14678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MGSLNSQLISTLSSINSVMK", "down_seq": "ASTEELRNPDFQKTSLGKIT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q14678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser879" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q14678-1.881.881", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q14678-1.881.881", "start_pos": 881, "end_pos": 881, "uniprot_canonical_ac": "Q14678-1", "length": 1352, "uniprot_id": "KANK1_HUMAN", "protein_name": "KN motif and ankyrin repeat domain-containing protein 1", "refseq_ac": "NP_001243805", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 1 isoform L", "gene_name": "KANK1", "gene_names_uniprotkb": "KANK1; ANKRD15; KANK; KIAA0172", "gene_names_refseq": "ANKRD15; CPSQ2; KANK1; KANK", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14678", "url": "https://www.uniprot.org/uniprotkb/Q14678" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "Q14678-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] } ], "crossref": [ { "id": "Q14678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SLNSQLISTLSSINSVMKSA", "down_seq": "TEELRNPDFQKTSLGKITGN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q14678", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14678" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser881" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "709", "end_pos": "709" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1298", "end_pos": "1298" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "1300", "end_pos": "1300" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "41", "end_pos": "41" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "622", "end_pos": "622" }, { "start_pos": "65", "end_pos": "68" }, { "start_pos": "979", "end_pos": "981" }, { "start_pos": "991", "end_pos": "992" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1002", "end_pos": "1002" }, { "start_pos": "1009", "end_pos": "1009" }, { "start_pos": "1016", "end_pos": "1016" }, { "start_pos": "1019", "end_pos": "1019" }, { "start_pos": "1023", "end_pos": "1023" }, { "start_pos": "1083", "end_pos": "1083" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1163", "end_pos": "1163" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1185", "end_pos": "1185" }, { "start_pos": "1195", "end_pos": "1195" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1301", "end_pos": "1301" }, { "start_pos": "1340", "end_pos": "1340" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "505", "end_pos": "505" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "604", "end_pos": "604" }, { "start_pos": "612", "end_pos": "612" }, { "start_pos": "621", "end_pos": "621" }, { "start_pos": "626", "end_pos": "626" }, { "start_pos": "672", "end_pos": "672" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "757", "end_pos": "757" }, { "start_pos": "769", "end_pos": "769" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "990", "end_pos": "990" }, { "start_pos": "99", "end_pos": "99" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "186", "end_pos": "186" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "879", "end_pos": "879" }, { "start_pos": "881", "end_pos": "881" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q14678-1.879.879", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q66LE6-1.285.285", "start_pos": 285, "end_pos": 285, "uniprot_canonical_ac": "Q66LE6-1", "length": 453, "uniprot_id": "2ABD_HUMAN", "protein_name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform", "refseq_ac": "NP_001278239", "refseq_name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform isoform b", "gene_name": "PPP2R2D", "gene_names_uniprotkb": "PPP2R2D; KIAA1541", "gene_names_refseq": "B55D; B55delta; MDS026; PPP2R2D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q66LE6", "url": "https://www.uniprot.org/uniprotkb/Q66LE6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q66LE6", "url": "https://www.uniprot.org/uniprotkb/Q66LE6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SALCDRHSKFFEEPEDPSSR", "down_seq": "FFSEIISSISDVKFSHSGRY", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q66LE6", "url": "https://www.uniprot.org/uniprotkb/Q66LE6" } ], "site_lbl": "Ser285" } ], "all_sites": [ { "type": "phosphorylation", "site_list": [ { "start_pos": "285", "end_pos": "285" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q66LE6-1.305.305", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q66LE6-1.305.305", "start_pos": 305, "end_pos": 305, "uniprot_canonical_ac": "Q66LE6-1", "length": 453, "uniprot_id": "2ABD_HUMAN", "protein_name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform", "refseq_ac": "NP_001278239", "refseq_name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform isoform b", "gene_name": "PPP2R2D", "gene_names_uniprotkb": "PPP2R2D; KIAA1541", "gene_names_refseq": "B55D; B55delta; MDS026; PPP2R2D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q66LE6", "url": "https://www.uniprot.org/uniprotkb/Q66LE6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q66LE6", "url": "https://www.uniprot.org/uniprotkb/Q66LE6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "SFFSEIISSISDVKFSHSGR", "down_seq": "MMTRDYLSVKVWDLNMESRP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q66LE6", "url": "https://www.uniprot.org/uniprotkb/Q66LE6" } ], "site_lbl": "Tyr305" } ], "all_sites": [ { "type": "phosphorylation", "site_list": [ { "start_pos": "285", "end_pos": "285" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q66LE6-1.285.285", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q66LE6-1.308.308", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q66LE6-1.308.308", "start_pos": 308, "end_pos": 308, "uniprot_canonical_ac": "Q66LE6-1", "length": 453, "uniprot_id": "2ABD_HUMAN", "protein_name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform", "refseq_ac": "NP_001278239", "refseq_name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform isoform b", "gene_name": "PPP2R2D", "gene_names_uniprotkb": "PPP2R2D; KIAA1541", "gene_names_refseq": "B55D; B55delta; MDS026; PPP2R2D", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q66LE6", "url": "https://www.uniprot.org/uniprotkb/Q66LE6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q66LE6", "url": "https://www.uniprot.org/uniprotkb/Q66LE6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SEIISSISDVKFSHSGRYMM", "down_seq": "RDYLSVKVWDLNMESRPVET", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q66LE6", "url": "https://www.uniprot.org/uniprotkb/Q66LE6" } ], "site_lbl": "Thr308" } ], "all_sites": [ { "type": "phosphorylation", "site_list": [ { "start_pos": "285", "end_pos": "285" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "308", "end_pos": "308" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q66LE6-1.305.305", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61163-1.352.352", "start_pos": 352, "end_pos": 352, "uniprot_canonical_ac": "P61163-1", "length": 376, "uniprot_id": "ACTZ_HUMAN", "protein_name": "Alpha-centractin", "refseq_ac": "NP_005727", "refseq_name": "alpha-centractin", "gene_name": "ACTR1A", "gene_names_uniprotkb": "ACTR1A; CTRN1", "gene_names_refseq": "ACTR1A; ARP1; Arp1A; CTRN1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61163", "url": "https://www.uniprot.org/uniprotkb/P61163" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Multi-comparative Thermal Proteome Profiling Uncovers New O-GlcNAc Proteins in a System-wide Method.", "journal": "Analytical chemistry", "date": "2022-12-29", "authors": "Wang Guoli, Li Yang, Wang Ting, Wang Jun, Yao Jun, Yan Guoquan, Zhang Ying, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P61163", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61163" } ], "reference": [ { "type": "PubMed", "id": "36580660", "url": "https://glygen.org/publication/PubMed/36580660" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P61163", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61163" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Design and Preparation of Novel Nitro-Oxide-Grafted Nanospheres with Enhanced Hydrogen Bonding Interaction for O-GlcNAc Analysis.", "journal": "ACS applied materials & interfaces", "date": "2022-10-26", "authors": "Wu Ci, Shi Song, Hou Chunyan, Luo Yang, Byers Stephen, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "P61163", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61163" }, { "database": "O-GlcNAc Atlas", "id": "P61163", "url": "https://oglcnac.org/atlas/detail/P61163" } ], "reference": [ { "type": "PubMed", "id": "36240223", "url": "https://glygen.org/publication/PubMed/36240223" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P61163", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61163" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "P61163", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61163" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "P61163", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61163" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P61163", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61163" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] } ], "crossref": [ { "id": "36580660", "url": "https://glygen.org/publication/PubMed/36580660", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P61163", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61163", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36240223", "url": "https://glygen.org/publication/PubMed/36240223", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P61163", "url": "https://oglcnac.org/atlas/detail/P61163", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "APQERLYSTWIGGSILASLD", "down_seq": "FKKMWVSKKEYEEDGARSIH", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr352", "evidence": [ { "id": "36580660", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36580660" }, { "id": "P61163", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P61163" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "36240223", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36240223" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "P61163", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P61163" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "352", "end_pos": "352" } ] }, { "type": "snv", "site_list": [ { "start_pos": "189", "end_pos": "189" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "86", "end_pos": "86" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P61163-1.189.189", "start_pos": 189, "end_pos": 189, "uniprot_canonical_ac": "P61163-1", "length": 376, "uniprot_id": "ACTZ_HUMAN", "protein_name": "Alpha-centractin", "refseq_ac": "NP_005727", "refseq_name": "alpha-centractin", "gene_name": "ACTR1A", "gene_names_uniprotkb": "ACTR1A; CTRN1", "gene_names_refseq": "ACTR1A; ARP1; Arp1A; CTRN1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61163", "url": "https://www.uniprot.org/uniprotkb/P61163" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1224499743", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1224499743", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1224499743", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1224499743", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PIYEGFAMPHSIMRIDIAGR", "down_seq": "VSRFLRLYLRKEGYDFHSSS", "snv": [ { "evidence": [ { "id": "rs1224499743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1224499743" }, { "id": "rs1224499743", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1224499743" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "10", "chr_pos": "102484252", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D189", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "352", "end_pos": "352" } ] }, { "type": "snv", "site_list": [ { "start_pos": "189", "end_pos": "189" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "86", "end_pos": "86" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "P61163-1.195.195", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61163-1.195.195", "start_pos": 195, "end_pos": 195, "uniprot_canonical_ac": "P61163-1", "length": 376, "uniprot_id": "ACTZ_HUMAN", "protein_name": "Alpha-centractin", "refseq_ac": "NP_005727", "refseq_name": "alpha-centractin", "gene_name": "ACTR1A", "gene_names_uniprotkb": "ACTR1A; CTRN1", "gene_names_refseq": "ACTR1A; ARP1; Arp1A; CTRN1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61163", "url": "https://www.uniprot.org/uniprotkb/P61163" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61163", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61163", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AMPHSIMRIDIAGRDVSRFL", "down_seq": "LYLRKEGYDFHSSSEFEIVK", "snv": [ { "evidence": [ { "id": "P61163", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61163" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "102484233", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R195", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "352", "end_pos": "352" } ] }, { "type": "snv", "site_list": [ { "start_pos": "189", "end_pos": "189" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "86", "end_pos": "86" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "P61163-1.189.189", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61163-1.292.292", "start_pos": 292, "end_pos": 292, "uniprot_canonical_ac": "P61163-1", "length": 376, "uniprot_id": "ACTZ_HUMAN", "protein_name": "Alpha-centractin", "refseq_ac": "NP_005727", "refseq_name": "alpha-centractin", "gene_name": "ACTR1A", "gene_names_uniprotkb": "ACTR1A; CTRN1", "gene_names_refseq": "ACTR1A; ARP1; Arp1A; CTRN1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61163", "url": "https://www.uniprot.org/uniprotkb/P61163" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61163", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61163", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SEGIHEVLVFAIQKSDMDLR", "down_seq": "TLFSNIVLSGGSTLFKGFGD", "snv": [ { "evidence": [ { "id": "P61163", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61163" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "102482052", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R292", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "352", "end_pos": "352" } ] }, { "type": "snv", "site_list": [ { "start_pos": "189", "end_pos": "189" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "86", "end_pos": "86" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61163-1.45.45", "start_pos": 45, "end_pos": 45, "uniprot_canonical_ac": "P61163-1", "length": 376, "uniprot_id": "ACTZ_HUMAN", "protein_name": "Alpha-centractin", "refseq_ac": "NP_005727", "refseq_name": "alpha-centractin", "gene_name": "ACTR1A", "gene_names_uniprotkb": "ACTR1A; CTRN1", "gene_names_refseq": "ACTR1A; ARP1; Arp1A; CTRN1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61163", "url": "https://www.uniprot.org/uniprotkb/P61163" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61163", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61163", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "FAGDQIPKYCFPNYVGRPKH", "down_seq": "RVMAGALEGDIFIGPKAEEH", "snv": [ { "evidence": [ { "id": "P61163", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61163" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "102489119", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V45", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "352", "end_pos": "352" } ] }, { "type": "snv", "site_list": [ { "start_pos": "189", "end_pos": "189" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "86", "end_pos": "86" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "P61163-1.55.55", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61163-1.55.55", "start_pos": 55, "end_pos": 55, "uniprot_canonical_ac": "P61163-1", "length": 376, "uniprot_id": "ACTZ_HUMAN", "protein_name": "Alpha-centractin", "refseq_ac": "NP_005727", "refseq_name": "alpha-centractin", "gene_name": "ACTR1A", "gene_names_uniprotkb": "ACTR1A; CTRN1", "gene_names_refseq": "ACTR1A; ARP1; Arp1A; CTRN1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61163", "url": "https://www.uniprot.org/uniprotkb/P61163" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P61163", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61163", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "FPNYVGRPKHVRVMAGALEG", "down_seq": "IFIGPKAEEHRGLLSIRYPM", "snv": [ { "evidence": [ { "id": "P61163", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P61163" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "3", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "10", "chr_pos": "102489089", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D55", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "352", "end_pos": "352" } ] }, { "type": "snv", "site_list": [ { "start_pos": "189", "end_pos": "189" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "86", "end_pos": "86" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "P61163-1.45.45", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P61163-1.86.86", "start_pos": 86, "end_pos": 86, "uniprot_canonical_ac": "P61163-1", "length": 376, "uniprot_id": "ACTZ_HUMAN", "protein_name": "Alpha-centractin", "refseq_ac": "NP_005727", "refseq_name": "alpha-centractin", "gene_name": "ACTR1A", "gene_names_uniprotkb": "ACTR1A; CTRN1", "gene_names_refseq": "ACTR1A; ARP1; Arp1A; CTRN1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61163", "url": "https://www.uniprot.org/uniprotkb/P61163" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs762300756", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762300756", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs762300756", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762300756", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs762300756", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762300756", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "RGLLSIRYPMEHGIVKDWND", "down_seq": "ERIWQYVYSKDQLQTFSEEH", "snv": [ { "evidence": [ { "id": "rs762300756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762300756" }, { "id": "rs762300756", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762300756" }, { "id": "rs762300756", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762300756" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDM->NDT).", "chr_id": "10", "chr_pos": "102488208", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M86", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "352", "end_pos": "352" } ] }, { "type": "snv", "site_list": [ { "start_pos": "189", "end_pos": "189" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "86", "end_pos": "86" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BUJ0-1.197.197", "start_pos": 197, "end_pos": 197, "uniprot_canonical_ac": "Q9BUJ0-1", "length": 271, "uniprot_id": "ABHEA_HUMAN", "protein_name": "Protein ABHD14A", "refseq_ac": "NP_056222", "refseq_name": "protein ABHD14A", "gene_name": "ABHD14A", "gene_names_uniprotkb": "ABHD14A; PRO4373", "gene_names_refseq": "ABHD14A; DORZ1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUJ0", "url": "https://www.uniprot.org/uniprotkb/Q9BUJ0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs918103477", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs918103477", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs918103477", "url": "https://www.ensembl.org/id/rs918103477", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ALPFLMRGHHQLHGFVPIAP", "down_seq": "STQNYTQEQFWAVKTPTLIL", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr197", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs918103477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs918103477" }, { "id": "rs918103477", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs918103477" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "3", "chr_pos": "51980585", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T197", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q9BUJ0-1.201.201", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9BUJ0-1.203.203", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BUJ0-1.201.201", "start_pos": 201, "end_pos": 201, "uniprot_canonical_ac": "Q9BUJ0-1", "length": 271, "uniprot_id": "ABHEA_HUMAN", "protein_name": "Protein ABHD14A", "refseq_ac": "NP_056222", "refseq_name": "protein ABHD14A", "gene_name": "ABHD14A", "gene_names_uniprotkb": "ABHD14A; PRO4373", "gene_names_refseq": "ABHD14A; DORZ1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUJ0", "url": "https://www.uniprot.org/uniprotkb/Q9BUJ0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BUJ0", "url": "https://www.uniprot.org/uniprotkb/Q9BUJ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1239350398", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1239350398", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1239350398", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1239350398#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1239350398", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1239350398", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LMRGHHQLHGFVPIAPTSTQ", "down_seq": "YTQEQFWAVKTPTLILYGEL", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn201", "evidence": [ { "id": "Q9BUJ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9BUJ0#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1239350398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1239350398" }, { "id": "rs1239350398", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1239350398#frequency_tab" }, { "id": "rs1239350398", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1239350398" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NYT->IYT).", "chr_id": "3", "chr_pos": "51980597", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N201", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1239350398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1239350398" }, { "id": "rs1239350398", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1239350398#frequency_tab" }, { "id": "rs1239350398", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1239350398" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NYT->SYT).", "chr_id": "3", "chr_pos": "51980597", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N201", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9BUJ0-1.197.197", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9BUJ0-1.203.203", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BUJ0-1.238.238", "start_pos": 238, "end_pos": 238, "uniprot_canonical_ac": "Q9BUJ0-1", "length": 271, "uniprot_id": "ABHEA_HUMAN", "protein_name": "Protein ABHD14A", "refseq_ac": "NP_056222", "refseq_name": "protein ABHD14A", "gene_name": "ABHD14A", "gene_names_uniprotkb": "ABHD14A; PRO4373", "gene_names_refseq": "ABHD14A; DORZ1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUJ0", "url": "https://www.uniprot.org/uniprotkb/Q9BUJ0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "Q9BUJ0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BUJ0", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs753672240", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753672240", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753672240", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753672240", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753672240", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753672240#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs753672240", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753672240", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1577719114", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1577719114", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1577719114", "url": "https://www.ensembl.org/id/rs1577719114", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "YGELDHILARESLRQLRHLP", "down_seq": "HSVVKLRNAGHACYLHKPQD", "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HLPNHSVVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn238", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "snv": [ { "evidence": [ { "id": "Q9BUJ0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BUJ0" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NHS->HHS).", "chr_id": "3", "chr_pos": "51980914", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N238", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs753672240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753672240" }, { "id": "rs753672240", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753672240" }, { "id": "rs753672240", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753672240#frequency_tab" }, { "id": "rs753672240", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753672240" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NHS->IHS).", "chr_id": "3", "chr_pos": "51980915", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N238", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1577719114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1577719114" }, { "id": "rs1577719114", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1577719114" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NHS->KHS).", "chr_id": "3", "chr_pos": "51980916", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N238", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753672240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753672240" }, { "id": "rs753672240", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753672240" }, { "id": "rs753672240", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753672240#frequency_tab" }, { "id": "rs753672240", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753672240" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NHS->SHS).", "chr_id": "3", "chr_pos": "51980915", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N238", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q9BUJ0-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9BUJ0-1.248.248", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BUJ0-1.24.24", "start_pos": 24, "end_pos": 24, "uniprot_canonical_ac": "Q9BUJ0-1", "length": 271, "uniprot_id": "ABHEA_HUMAN", "protein_name": "Protein ABHD14A", "refseq_ac": "NP_056222", "refseq_name": "protein ABHD14A", "gene_name": "ABHD14A", "gene_names_uniprotkb": "ABHD14A; PRO4373", "gene_names_refseq": "ABHD14A; DORZ1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUJ0", "url": "https://www.uniprot.org/uniprotkb/Q9BUJ0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs1559774959", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1559774959", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1559774959", "url": "https://www.ensembl.org/id/rs1559774959", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ALCGCWFRLGGARPLIPLGP", "down_seq": "VVQTSMSRSQVALLGLSLLL", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr24", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1559774959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1559774959" }, { "id": "rs1559774959", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1559774959" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "3", "chr_pos": "51977872", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T24", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q9BUJ0-1.31.31", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BUJ0-1.67.67", "start_pos": 67, "end_pos": 67, "uniprot_canonical_ac": "Q9BUJ0-1", "length": 271, "uniprot_id": "ABHEA_HUMAN", "protein_name": "Protein ABHD14A", "refseq_ac": "NP_056222", "refseq_name": "protein ABHD14A", "gene_name": "ABHD14A", "gene_names_uniprotkb": "ABHD14A; PRO4373", "gene_names_refseq": "ABHD14A; DORZ1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUJ0", "url": "https://www.uniprot.org/uniprotkb/Q9BUJ0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BUJ0", "url": "https://www.uniprot.org/uniprotkb/Q9BUJ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs191551166", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs191551166", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs191551166", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs191551166", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs191551166", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs191551166", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs191551166", "url": "https://www.ncbi.nlm.nih.gov/snp/rs191551166#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs191551166", "url": "http://gnomad.broadinstitute.org/awesome?query=rs191551166", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LLYVGLPGPPEQTSCLWGDP", "down_seq": "VTVLAGLTPGNSPIFYREVL", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn67", "evidence": [ { "id": "Q9BUJ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9BUJ0#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs191551166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs191551166" }, { "id": "rs191551166", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs191551166" }, { "id": "rs191551166", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs191551166" }, { "id": "rs191551166", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs191551166#frequency_tab" }, { "id": "rs191551166", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs191551166" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVT->IVT).", "chr_id": "3", "chr_pos": "51978001", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "N67", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs191551166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs191551166" }, { "id": "rs191551166", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs191551166" }, { "id": "rs191551166", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs191551166" }, { "id": "rs191551166", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs191551166#frequency_tab" }, { "id": "rs191551166", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs191551166" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVT->SVT).", "chr_id": "3", "chr_pos": "51978001", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "N67", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9BUJ0-1.69.69", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BUJ0-1.203.203", "start_pos": 203, "end_pos": 203, "uniprot_canonical_ac": "Q9BUJ0-1", "length": 271, "uniprot_id": "ABHEA_HUMAN", "protein_name": "Protein ABHD14A", "refseq_ac": "NP_056222", "refseq_name": "protein ABHD14A", "gene_name": "ABHD14A", "gene_names_uniprotkb": "ABHD14A; PRO4373", "gene_names_refseq": "ABHD14A; DORZ1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUJ0", "url": "https://www.uniprot.org/uniprotkb/Q9BUJ0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs749463097", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749463097", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749463097", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749463097", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs749463097", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749463097#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs749463097", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749463097", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RGHHQLHGFVPIAPTSTQNY", "down_seq": "QEQFWAVKTPTLILYGELDH", "snv": [ { "evidence": [ { "id": "rs749463097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749463097" }, { "id": "rs749463097", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749463097" }, { "id": "rs749463097", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749463097#frequency_tab" }, { "id": "rs749463097", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749463097" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NYT->NYI).", "chr_id": "3", "chr_pos": "51980603", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T203", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749463097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749463097" }, { "id": "rs749463097", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749463097" }, { "id": "rs749463097", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749463097#frequency_tab" }, { "id": "rs749463097", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749463097" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NYT->NYN).", "chr_id": "3", "chr_pos": "51980603", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T203", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9BUJ0-1.197.197", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9BUJ0-1.201.201", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BUJ0-1.239.239", "start_pos": 239, "end_pos": 239, "uniprot_canonical_ac": "Q9BUJ0-1", "length": 271, "uniprot_id": "ABHEA_HUMAN", "protein_name": "Protein ABHD14A", "refseq_ac": "NP_056222", "refseq_name": "protein ABHD14A", "gene_name": "ABHD14A", "gene_names_uniprotkb": "ABHD14A; PRO4373", "gene_names_refseq": "ABHD14A; DORZ1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUJ0", "url": "https://www.uniprot.org/uniprotkb/Q9BUJ0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1700897674", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1700897674", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1700897674", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1700897674", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "GELDHILARESLRQLRHLPN", "down_seq": "SVVKLRNAGHACYLHKPQDF", "snv": [ { "evidence": [ { "id": "rs1700897674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1700897674" }, { "id": "rs1700897674", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1700897674" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NHS->NPS).", "chr_id": "3", "chr_pos": "51980918", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H239", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q9BUJ0-1.238.238", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9BUJ0-1.248.248", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BUJ0-1.248.248", "start_pos": 248, "end_pos": 248, "uniprot_canonical_ac": "Q9BUJ0-1", "length": 271, "uniprot_id": "ABHEA_HUMAN", "protein_name": "Protein ABHD14A", "refseq_ac": "NP_056222", "refseq_name": "protein ABHD14A", "gene_name": "ABHD14A", "gene_names_uniprotkb": "ABHD14A; PRO4373", "gene_names_refseq": "ABHD14A; DORZ1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUJ0", "url": "https://www.uniprot.org/uniprotkb/Q9BUJ0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs757518907", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757518907", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs757518907", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757518907", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs757518907", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757518907#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs757518907", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757518907", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "ESLRQLRHLPNHSVVKLRNA", "down_seq": "HACYLHKPQDFHLVLLAFLD", "snv": [ { "evidence": [ { "id": "rs757518907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757518907" }, { "id": "rs757518907", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757518907" }, { "id": "rs757518907", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757518907#frequency_tab" }, { "id": "rs757518907", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757518907" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAG->NAS).", "chr_id": "3", "chr_pos": "51980944", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G248", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9BUJ0-1.238.238", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9BUJ0-1.239.239", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BUJ0-1.31.31", "start_pos": 31, "end_pos": 31, "uniprot_canonical_ac": "Q9BUJ0-1", "length": 271, "uniprot_id": "ABHEA_HUMAN", "protein_name": "Protein ABHD14A", "refseq_ac": "NP_056222", "refseq_name": "protein ABHD14A", "gene_name": "ABHD14A", "gene_names_uniprotkb": "ABHD14A; PRO4373", "gene_names_refseq": "ABHD14A; DORZ1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUJ0", "url": "https://www.uniprot.org/uniprotkb/Q9BUJ0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs773902084", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773902084", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773902084", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773902084", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773902084", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773902084", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RLGGARPLIPLGPTVVQTSM", "down_seq": "RSQVALLGLSLLLMLLLYVG", "snv": [ { "evidence": [ { "id": "rs773902084", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773902084" }, { "id": "rs773902084", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773902084" }, { "id": "rs773902084", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773902084" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SRS->NRS).", "chr_id": "3", "chr_pos": "51977893", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S31", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9BUJ0-1.24.24", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BUJ0-1.69.69", "start_pos": 69, "end_pos": 69, "uniprot_canonical_ac": "Q9BUJ0-1", "length": 271, "uniprot_id": "ABHEA_HUMAN", "protein_name": "Protein ABHD14A", "refseq_ac": "NP_056222", "refseq_name": "protein ABHD14A", "gene_name": "ABHD14A", "gene_names_uniprotkb": "ABHD14A; PRO4373", "gene_names_refseq": "ABHD14A; DORZ1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUJ0", "url": "https://www.uniprot.org/uniprotkb/Q9BUJ0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1170756142", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170756142", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1170756142", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1170756142", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "YVGLPGPPEQTSCLWGDPNV", "down_seq": "VLAGLTPGNSPIFYREVLPL", "snv": [ { "evidence": [ { "id": "rs1170756142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170756142" }, { "id": "rs1170756142", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1170756142" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVT->NVA).", "chr_id": "3", "chr_pos": "51978006", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T69", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9BUJ0-1.67.67", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BUJ0-1.92.92", "start_pos": 92, "end_pos": 92, "uniprot_canonical_ac": "Q9BUJ0-1", "length": 271, "uniprot_id": "ABHEA_HUMAN", "protein_name": "Protein ABHD14A", "refseq_ac": "NP_056222", "refseq_name": "protein ABHD14A", "gene_name": "ABHD14A", "gene_names_uniprotkb": "ABHD14A; PRO4373", "gene_names_refseq": "ABHD14A; DORZ1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUJ0", "url": "https://www.uniprot.org/uniprotkb/Q9BUJ0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1166697573", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1166697573", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1166697573", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1166697573", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "AGLTPGNSPIFYREVLPLNQ", "down_seq": "HRVEVVLLHGKAFNSHTWEQ", "snv": [ { "evidence": [ { "id": "rs1166697573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1166697573" }, { "id": "rs1166697573", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1166697573" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQA->NQT).", "chr_id": "3", "chr_pos": "51978075", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A92", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "67", "end_pos": "67" } ] }, { "type": "snv", "site_list": [ { "start_pos": "197", "end_pos": "197" }, { "start_pos": "201", "end_pos": "201" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "92", "end_pos": "92" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.282.282", "start_pos": 282, "end_pos": 282, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760#ptm_processing" }, { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "N-Glycosylation during translation is essential for human arylacetamide deacetylase enzyme activity.", "journal": "Biochemical pharmacology", "date": "2014", "authors": "Muta K, Fukami T, Nakajima M, Yokoi T", "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760#ptm_processing" }, { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" }, { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" } ], "reference": [ { "type": "PubMed", "id": "24125761", "url": "https://glygen.org/publication/PubMed/24125761" } ] } ], "crossref": [ { "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24125761", "url": "https://glygen.org/publication/PubMed/24125761", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs146990427", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146990427", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs146990427", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146990427", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs146990427", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146990427", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "KAMLSRQHVPVESSHLFKFV", "down_seq": "WSSLLPERFIKGHVYNNPNY", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn282", "evidence": [ { "id": "P22760", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22760#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "24125761", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24125761" }, { "id": "GLY_000481", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000481" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "Abolishes glycosylation at this site and causes substantial decrease in activity and reduced substrate affinity.", "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" }, { "database": "PubMed", "id": "24125761", "url": "https://glygen.org/publication/PubMed/24125761" } ] } ], "snv": [ { "evidence": [ { "id": "rs146990427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146990427" }, { "id": "rs146990427", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146990427" }, { "id": "rs146990427", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146990427" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NWS->KWS); glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827818", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N282", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P22760-1.78.78", "start_pos": 78, "end_pos": 78, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760#ptm_processing" }, { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "N-Glycosylation during translation is essential for human arylacetamide deacetylase enzyme activity.", "journal": "Biochemical pharmacology", "date": "2014", "authors": "Muta K, Fukami T, Nakajima M, Yokoi T", "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760#ptm_processing" }, { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" }, { "database": "GlyGen", "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481" } ], "reference": [ { "type": "PubMed", "id": "24125761", "url": "https://glygen.org/publication/PubMed/24125761" } ] } ], "crossref": [ { "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24125761", "url": "https://glygen.org/publication/PubMed/24125761", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000481", "url": "https://data.glygen.org/GLY_000481", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "FMDSFKVVGSFDEVPPTSDE", "down_seq": "VTVTETKFNNILVRVYVPKR", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn78", "evidence": [ { "id": "P22760", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22760#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "24125761", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24125761" }, { "id": "GLY_000481", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000481" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "Abolishes glycosylation at this site and causes moderate decrease in activity.", "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" }, { "database": "PubMed", "id": "24125761", "url": "https://glygen.org/publication/PubMed/24125761" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "glycosylation_flag", "mutagenesis_flag" ], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.98.98", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl", "mining_tool" ] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P22760-1.146.146", "start_pos": 146, "end_pos": 146, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs772072752", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772072752", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772072752", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772072752", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772072752", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772072752", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs759598919", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759598919", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs759598919", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759598919", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs759598919", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759598919", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1323878259", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1323878259", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1323878259", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1323878259", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1323878259", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1323878259", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DLLSRWTADRLDAVVVSTNY", "down_seq": "LAPKYHFPIQFEDVYNALRW", "snv": [ { "evidence": [ { "id": "rs772072752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772072752" }, { "id": "rs772072752", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772072752" }, { "id": "rs772072752", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772072752" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NYR->NYS); glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824669", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R146", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759598919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759598919" }, { "id": "rs759598919", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759598919" }, { "id": "rs759598919", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759598919" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824667", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R146", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs1323878259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1323878259" }, { "id": "rs1323878259", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1323878259" }, { "id": "rs1323878259", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1323878259" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824668", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R146", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.237.237", "start_pos": 237, "end_pos": 237, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716558172", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716558172", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716558172", "url": "https://www.ensembl.org/id/rs1716558172", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1457066577", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457066577", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1457066577", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1457066577#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1457066577", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457066577", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LIYPALQPLDVDLPSYQENS", "down_seq": "FLFLSKSLMVRFWSEYFTTD", "snv": [ { "evidence": [ { "id": "rs1716558172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716558172" }, { "id": "rs1716558172", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1716558172" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NSN->NSS); glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827682", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N237", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1457066577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457066577" }, { "id": "rs1457066577", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1457066577#frequency_tab" }, { "id": "rs1457066577", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457066577" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827681", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N237", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1457066577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457066577" }, { "id": "rs1457066577", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1457066577#frequency_tab" }, { "id": "rs1457066577", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457066577" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827681", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N237", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1457066577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457066577" }, { "id": "rs1457066577", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1457066577#frequency_tab" }, { "id": "rs1457066577", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457066577" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827681", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N237", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.27.27", "start_pos": 27, "end_pos": 27, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs530863195", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530863195", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs530863195", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530863195", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs530863195", "url": "http://gnomad.broadinstitute.org/awesome?query=rs530863195", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs530863195", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530863195", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs780438081", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780438081", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780438081", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780438081", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780438081", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780438081#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs780438081", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780438081", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "YLLIVGILIAYYIYTPLPDN", "down_seq": "EEPWRMMWINAHLKTIQNLA", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs530863195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530863195" }, { "id": "rs530863195", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530863195" }, { "id": "rs530863195", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs530863195" }, { "id": "rs530863195", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530863195" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151814241", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V27", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs780438081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780438081" }, { "id": "rs780438081", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780438081" }, { "id": "rs780438081", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780438081#frequency_tab" }, { "id": "rs780438081", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780438081" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814242", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V27", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.47.47", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.284.284", "start_pos": 284, "end_pos": 284, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs138006759", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138006759", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs138006759", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138006759#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs138006759", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138006759", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MLSRQHVPVESSHLFKFVNW", "down_seq": "SLLPERFIKGHVYNNPNYGS", "snv": [ { "evidence": [ { "id": "rs138006759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138006759" }, { "id": "rs138006759", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138006759#frequency_tab" }, { "id": "rs138006759", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138006759" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NWS->NWI); glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827823", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S284", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-loss (NWS->NWN); protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827823", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S284", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.300.300", "start_pos": 300, "end_pos": 300, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1027860130", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1027860130", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1027860130", "url": "https://www.ensembl.org/id/rs1027860130", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs777942033", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777942033", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs777942033", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777942033", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs777942033", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777942033", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "FVNWSSLLPERFIKGHVYNN", "down_seq": "NYGSSELAKKYPGFLDVRAA", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-gain (NNP->NNT); protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827870", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P300", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1027860130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1027860130" }, { "id": "rs1027860130", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1027860130" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827870", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P300", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777942033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777942033" }, { "id": "rs777942033", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777942033" }, { "id": "rs777942033", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777942033" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827871", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P300", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.391.391", "start_pos": 391, "end_pos": 391, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs766697843", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766697843", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766697843", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766697843", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766697843", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766697843", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "GFHGAFSFLGLKISHRLINQ", "down_seq": "IEWLKENL", "snv": [ { "evidence": [ { "id": "rs766697843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766697843" }, { "id": "rs766697843", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766697843" }, { "id": "rs766697843", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766697843" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NQY->NQC); glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828144", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y391", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151828145", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y391", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.378.378", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.392.392", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.398.398", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.399.399", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.47.47", "start_pos": 47, "end_pos": 47, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716033021", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716033021", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716033021", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716033021#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1716033021", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716033021", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VEEPWRMMWINAHLKTIQNL", "down_seq": "TFVELLGLHHFMDSFKVVGS", "snv": [ { "evidence": [ { "id": "rs1716033021", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716033021" }, { "id": "rs1716033021", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716033021#frequency_tab" }, { "id": "rs1716033021", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716033021" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NLA->NLS); glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817366", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A47", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.57.57", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.62.62", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.67.67", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.100.100", "start_pos": 100, "end_pos": 100, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs971722811", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs971722811", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs971722811", "url": "https://www.ensembl.org/id/rs971722811", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1716044109", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716044109", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716044109", "url": "https://www.ensembl.org/id/rs1716044109", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TVTETKFNNILVRVYVPKRK", "down_seq": "EALRRGLFYIHGGGWCVGSA", "snv": [ { "evidence": [ { "id": "rs971722811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs971722811" }, { "id": "rs971722811", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs971722811" } ], "glycoeffect": [], "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817525", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S100", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1716044109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716044109" }, { "id": "rs1716044109", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1716044109" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817526", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S100", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.101.101", "start_pos": 101, "end_pos": 101, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs750503740", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750503740", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750503740", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750503740", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750503740", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750503740", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "VTETKFNNILVRVYVPKRKS", "down_seq": "ALRRGLFYIHGGGWCVGSAA", "snv": [ { "evidence": [ { "id": "rs750503740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750503740" }, { "id": "rs750503740", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750503740" }, { "id": "rs750503740", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750503740" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817528", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E101", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.102.102", "start_pos": 102, "end_pos": 102, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1473570706", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1473570706", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1473570706", "url": "https://www.ensembl.org/id/rs1473570706", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "TETKFNNILVRVYVPKRKSE", "down_seq": "LRRGLFYIHGGGWCVGSAAL", "snv": [ { "evidence": [ { "id": "rs1473570706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1473570706" }, { "id": "rs1473570706", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1473570706" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817531", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A102", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.84.84", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.105.105", "start_pos": 105, "end_pos": 105, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs758996539", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758996539", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs758996539", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758996539", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs758996539", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758996539#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs758996539", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758996539", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs964630138", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs964630138", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs964630138", "url": "http://gnomad.broadinstitute.org/awesome?query=rs964630138", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs964630138", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs964630138", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KFNNILVRVYVPKRKSEALR", "down_seq": "GLFYIHGGGWCVGSAALSGY", "snv": [ { "evidence": [ { "id": "rs758996539", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758996539" }, { "id": "rs758996539", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758996539" }, { "id": "rs758996539", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758996539#frequency_tab" }, { "id": "rs758996539", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758996539" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817540", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R105", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs964630138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs964630138" }, { "id": "rs964630138", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs964630138" }, { "id": "rs964630138", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs964630138" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151817541", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R105", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.106.106", "start_pos": 106, "end_pos": 106, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1716044943", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716044943", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716044943", "url": "https://www.ensembl.org/id/rs1716044943", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs780408376", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780408376", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780408376", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780408376", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780408376", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780408376#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs780408376", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780408376", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "FNNILVRVYVPKRKSEALRR", "down_seq": "LFYIHGGGWCVGSAALSGYD", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs1716044943", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716044943" }, { "id": "rs1716044943", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1716044943" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151817544", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G106", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs780408376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780408376" }, { "id": "rs780408376", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780408376" }, { "id": "rs780408376", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780408376#frequency_tab" }, { "id": "rs780408376", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780408376" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817543", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G106", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.108.108", "start_pos": 108, "end_pos": 108, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs752023883", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752023883", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752023883", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752023883", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752023883", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752023883#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs752023883", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752023883", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs755300015", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755300015", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755300015", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755300015", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755300015", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755300015", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "NILVRVYVPKRKSEALRRGL", "down_seq": "YIHGGGWCVGSAALSGYDLL", "snv": [ { "evidence": [ { "id": "rs752023883", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752023883" }, { "id": "rs752023883", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752023883" }, { "id": "rs752023883", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752023883#frequency_tab" }, { "id": "rs752023883", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752023883" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817549", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755300015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755300015" }, { "id": "rs755300015", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755300015" }, { "id": "rs755300015", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755300015" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817550", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F108", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.110.110", "start_pos": 110, "end_pos": 110, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1410553729", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1410553729", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1410553729", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1410553729", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "LVRVYVPKRKSEALRRGLFY", "down_seq": "HGGGWCVGSAALSGYDLLSR", "snv": [ { "evidence": [ { "id": "rs1410553729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1410553729" }, { "id": "rs1410553729", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1410553729" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817555", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I110", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.112.112", "start_pos": 112, "end_pos": 112, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1388828419", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1388828419", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1388828419", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1388828419", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs748961275", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748961275", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748961275", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748961275", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748961275", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748961275", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "RVYVPKRKSEALRRGLFYIH", "down_seq": "GGWCVGSAALSGYDLLSRWT", "snv": [ { "evidence": [ { "id": "rs1388828419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1388828419" }, { "id": "rs1388828419", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1388828419" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817562", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G112", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748961275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748961275" }, { "id": "rs748961275", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748961275" }, { "id": "rs748961275", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748961275" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817561", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G112", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.113.113", "start_pos": 113, "end_pos": 113, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs530379220", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530379220", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs530379220", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530379220", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs530379220", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530379220", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs530379220", "url": "http://gnomad.broadinstitute.org/awesome?query=rs530379220", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1576640907", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1576640907", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1576640907", "url": "https://www.ensembl.org/id/rs1576640907", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "VYVPKRKSEALRRGLFYIHG", "down_seq": "GWCVGSAALSGYDLLSRWTA", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151817564", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G113", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs530379220", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530379220" }, { "id": "rs530379220", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530379220" }, { "id": "rs530379220", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530379220" }, { "id": "rs530379220", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs530379220" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817565", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "G113", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1576640907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1576640907" }, { "id": "rs1576640907", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1576640907" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817564", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G113", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs530379220", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530379220" }, { "id": "rs530379220", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530379220" }, { "id": "rs530379220", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530379220" }, { "id": "rs530379220", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs530379220" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817565", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "G113", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.93.93", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.114.114", "start_pos": 114, "end_pos": 114, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1257503405", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1257503405", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1257503405", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1257503405#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1257503405", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1257503405", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs374666475", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374666475", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs374666475", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374666475", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs374666475", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374666475#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs374666475", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374666475", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "YVPKRKSEALRRGLFYIHGG", "down_seq": "WCVGSAALSGYDLLSRWTAD", "snv": [ { "evidence": [ { "id": "rs1257503405", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1257503405" }, { "id": "rs1257503405", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1257503405#frequency_tab" }, { "id": "rs1257503405", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1257503405" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817567", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G114", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374666475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374666475" }, { "id": "rs374666475", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374666475" }, { "id": "rs374666475", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374666475#frequency_tab" }, { "id": "rs374666475", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374666475" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817568", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G114", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.115.115", "start_pos": 115, "end_pos": 115, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1321654224", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1321654224", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1321654224", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1321654224#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "VPKRKSEALRRGLFYIHGGG", "down_seq": "CVGSAALSGYDLLSRWTADR", "snv": [ { "evidence": [ { "id": "rs1321654224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1321654224" }, { "id": "rs1321654224", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1321654224#frequency_tab" } ], "glycoeffect": [], "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817571", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W115", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1321654224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1321654224" }, { "id": "rs1321654224", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1321654224#frequency_tab" } ], "glycoeffect": [], "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817571", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W115", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.116.116", "start_pos": 116, "end_pos": 116, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs772114654", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772114654", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772114654", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772114654", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772114654", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772114654#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs772114654", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772114654", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs772114654", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs772114654", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs1576640924", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1576640924", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1576640924", "url": "https://www.ensembl.org/id/rs1576640924", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs745347194", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745347194", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs745347194", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745347194", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs745347194", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745347194", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "PKRKSEALRRGLFYIHGGGW", "down_seq": "VGSAALSGYDLLSRWTADRL", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs772114654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772114654" }, { "id": "rs772114654", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772114654" }, { "id": "rs772114654", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772114654#frequency_tab" }, { "id": "rs772114654", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772114654" }, { "id": "rs772114654", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs772114654" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151817575", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "C116", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1576640924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1576640924" }, { "id": "rs1576640924", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1576640924" } ], "glycoeffect": [], "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817573", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745347194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745347194" }, { "id": "rs745347194", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745347194" }, { "id": "rs745347194", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745347194" } ], "glycoeffect": [], "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817574", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C116", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.117.117", "start_pos": 117, "end_pos": 117, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs984730523", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs984730523", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs984730523", "url": "https://www.ncbi.nlm.nih.gov/snp/rs984730523#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs984730523", "url": "http://gnomad.broadinstitute.org/awesome?query=rs984730523", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs368531215", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368531215", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs368531215", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368531215", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs368531215", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368531215#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs368531215", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368531215", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs368531215", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368531215", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "KRKSEALRRGLFYIHGGGWC", "down_seq": "GSAALSGYDLLSRWTADRLD", "snv": [ { "evidence": [ { "id": "rs984730523", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs984730523" }, { "id": "rs984730523", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs984730523#frequency_tab" }, { "id": "rs984730523", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs984730523" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817577", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V117", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs368531215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368531215" }, { "id": "rs368531215", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368531215" }, { "id": "rs368531215", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368531215#frequency_tab" }, { "id": "rs368531215", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368531215" }, { "id": "rs368531215", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368531215" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151817576", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V117", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.118.118", "start_pos": 118, "end_pos": 118, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "RKSEALRRGLFYIHGGGWCV", "down_seq": "SAALSGYDLLSRWTADRLDA", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151817579", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G118", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.119.119", "start_pos": 119, "end_pos": 119, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KSEALRRGLFYIHGGGWCVG", "down_seq": "AALSGYDLLSRWTADRLDAV", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151817583", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S119", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.120.120", "start_pos": 120, "end_pos": 120, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs370777804", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370777804", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs370777804", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370777804#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs370777804", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370777804", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SEALRRGLFYIHGGGWCVGS", "down_seq": "ALSGYDLLSRWTADRLDAVV", "snv": [ { "evidence": [ { "id": "rs370777804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370777804" }, { "id": "rs370777804", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370777804#frequency_tab" }, { "id": "rs370777804", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370777804" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151817585", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A120", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.121.121", "start_pos": 121, "end_pos": 121, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs746954617", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746954617", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs746954617", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746954617", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs746954617", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746954617", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "EALRRGLFYIHGGGWCVGSA", "down_seq": "LSGYDLLSRWTADRLDAVVV", "snv": [ { "evidence": [ { "id": "rs746954617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746954617" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820383", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A121", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746954617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746954617" }, { "id": "rs746954617", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746954617" }, { "id": "rs746954617", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746954617" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820383", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A121", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.101.101", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.122.122", "start_pos": 122, "end_pos": 122, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "ALRRGLFYIHGGGWCVGSAA", "down_seq": "SGYDLLSRWTADRLDAVVVS", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151820385", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L122", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.123.123", "start_pos": 123, "end_pos": 123, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2108029459", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2108029459", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2108029459", "url": "https://www.ensembl.org/id/rs2108029459", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs145320004", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145320004", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs145320004", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145320004", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs145320004", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145320004#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs145320004", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145320004", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs145320004", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145320004", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LRRGLFYIHGGGWCVGSAAL", "down_seq": "GYDLLSRWTADRLDAVVVST", "snv": [ { "evidence": [ { "id": "rs2108029459", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2108029459" }, { "id": "rs2108029459", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2108029459" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820389", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S123", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs145320004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145320004" }, { "id": "rs145320004", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145320004" }, { "id": "rs145320004", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145320004#frequency_tab" }, { "id": "rs145320004", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145320004" }, { "id": "rs145320004", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145320004" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151820390", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S123", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.124.124", "start_pos": 124, "end_pos": 124, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2108029469", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2108029469", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2108029469", "url": "https://www.ensembl.org/id/rs2108029469", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs925601026", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs925601026", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs925601026", "url": "https://www.ncbi.nlm.nih.gov/snp/rs925601026#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "RRGLFYIHGGGWCVGSAALS", "down_seq": "YDLLSRWTADRLDAVVVSTN", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151820391", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G124", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2108029469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2108029469" }, { "id": "rs2108029469", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2108029469" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820392", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs925601026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs925601026" }, { "id": "rs925601026", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs925601026#frequency_tab" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820391", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G124", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.125.125", "start_pos": 125, "end_pos": 125, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs776621351", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776621351", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776621351", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776621351", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776621351", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776621351#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs776621351", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776621351", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1232918824", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232918824", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1232918824", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232918824", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "RGLFYIHGGGWCVGSAALSG", "down_seq": "DLLSRWTADRLDAVVVSTNY", "snv": [ { "evidence": [ { "id": "rs776621351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776621351" }, { "id": "rs776621351", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776621351" }, { "id": "rs776621351", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776621351#frequency_tab" }, { "id": "rs776621351", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776621351" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820396", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y125", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1232918824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232918824" }, { "id": "rs1232918824", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232918824" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820394", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y125", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.126.126", "start_pos": 126, "end_pos": 126, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1179754437", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1179754437", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1179754437", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1179754437", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GLFYIHGGGWCVGSAALSGY", "down_seq": "LLSRWTADRLDAVVVSTNYR", "snv": [ { "evidence": [ { "id": "rs1179754437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1179754437" }, { "id": "rs1179754437", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1179754437" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820398", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D126", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.127.127", "start_pos": 127, "end_pos": 127, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1415432556", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415432556", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1415432556", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415432556", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "LFYIHGGGWCVGSAALSGYD", "down_seq": "LSRWTADRLDAVVVSTNYRL", "snv": [ { "evidence": [ { "id": "rs1415432556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415432556" }, { "id": "rs1415432556", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415432556" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820400", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L127", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.128.128", "start_pos": 128, "end_pos": 128, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1470625793", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1470625793", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1470625793", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1470625793#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "FYIHGGGWCVGSAALSGYDL", "down_seq": "SRWTADRLDAVVVSTNYRLA", "snv": [ { "evidence": [ { "id": "rs1470625793", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1470625793" }, { "id": "rs1470625793", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1470625793#frequency_tab" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820404", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L128", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.129.129", "start_pos": 129, "end_pos": 129, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs747948485", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747948485", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs747948485", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747948485", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs747948485", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747948485", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YIHGGGWCVGSAALSGYDLL", "down_seq": "RWTADRLDAVVVSTNYRLAP", "snv": [ { "evidence": [ { "id": "rs747948485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747948485" }, { "id": "rs747948485", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747948485" }, { "id": "rs747948485", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747948485" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820406", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S129", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.110.110", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.12.12", "start_pos": 12, "end_pos": 12, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1054355452", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1054355452", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1054355452", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1054355452", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "MGRKSLYLLIV", "down_seq": "ILIAYYIYTPLPDNVEEPWR", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151814197", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G12", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1054355452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1054355452" }, { "id": "rs1054355452", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1054355452" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814196", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G12", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "P22760-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.131.131", "start_pos": 131, "end_pos": 131, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs142051669", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142051669", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs142051669", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs142051669", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs142051669", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142051669", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs142051669", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142051669#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs142051669", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142051669", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1716191372", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716191372", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716191372", "url": "https://www.ensembl.org/id/rs1716191372", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "HGGGWCVGSAALSGYDLLSR", "down_seq": "TADRLDAVVVSTNYRLAPKY", "snv": [ { "evidence": [ { "id": "rs142051669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142051669" }, { "id": "rs142051669", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs142051669" }, { "id": "rs142051669", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142051669" }, { "id": "rs142051669", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142051669#frequency_tab" }, { "id": "rs142051669", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142051669" } ], "glycoeffect": [], "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820414", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "W131", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1716191372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716191372" }, { "id": "rs1716191372", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1716191372" } ], "glycoeffect": [], "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820412", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W131", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.112.112", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.133.133", "start_pos": 133, "end_pos": 133, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "GGWCVGSAALSGYDLLSRWT", "down_seq": "DRLDAVVVSTNYRLAPKYHF", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151820418", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A133", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.134.134", "start_pos": 134, "end_pos": 134, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716191779", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716191779", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716191779", "url": "https://www.ensembl.org/id/rs1716191779", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1716191629", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716191629", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716191629", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716191629", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GWCVGSAALSGYDLLSRWTA", "down_seq": "RLDAVVVSTNYRLAPKYHFP", "snv": [ { "evidence": [ { "id": "rs1716191779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716191779" }, { "id": "rs1716191779", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1716191779" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820422", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D134", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1716191629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716191629" }, { "id": "rs1716191629", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716191629" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820421", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D134", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.135.135", "start_pos": 135, "end_pos": 135, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716191957", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716191957", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716191957", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716191957#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "WCVGSAALSGYDLLSRWTAD", "down_seq": "LDAVVVSTNYRLAPKYHFPI", "snv": [ { "evidence": [ { "id": "rs1716191957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716191957" }, { "id": "rs1716191957", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716191957#frequency_tab" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820426", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R135", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.137.137", "start_pos": 137, "end_pos": 137, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs890552872", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs890552872", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs890552872", "url": "https://www.ensembl.org/id/rs890552872", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VGSAALSGYDLLSRWTADRL", "down_seq": "AVVVSTNYRLAPKYHFPIQF", "snv": [ { "evidence": [ { "id": "rs890552872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs890552872" }, { "id": "rs890552872", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs890552872" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820430", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D137", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151820430", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D137", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.138.138", "start_pos": 138, "end_pos": 138, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs773308365", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773308365", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773308365", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773308365", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773308365", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773308365", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "GSAALSGYDLLSRWTADRLD", "down_seq": "VVVSTNYRLAPKYHFPIQFE", "snv": [ { "evidence": [ { "id": "rs773308365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773308365" }, { "id": "rs773308365", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773308365" }, { "id": "rs773308365", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773308365" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820433", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A138", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.139.139", "start_pos": 139, "end_pos": 139, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "SAALSGYDLLSRWTADRLDA", "down_seq": "VVSTNYRLAPKYHFPIQFED", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151820436", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V139", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.119.119", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.140.140", "start_pos": 140, "end_pos": 140, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs146809751", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146809751", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs146809751", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146809751", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs146809751", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146809751#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs146809751", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146809751", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "AALSGYDLLSRWTADRLDAV", "down_seq": "VSTNYRLAPKYHFPIQFEDV", "snv": [ { "evidence": [ { "id": "rs146809751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146809751" }, { "id": "rs146809751", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146809751" }, { "id": "rs146809751", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146809751#frequency_tab" }, { "id": "rs146809751", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146809751" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820439", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V140", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.141.141", "start_pos": 141, "end_pos": 141, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716194033", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716194033", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716194033", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716194033", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs760075146", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760075146", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs760075146", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760075146", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs760075146", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760075146#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs760075146", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760075146", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "ALSGYDLLSRWTADRLDAVV", "down_seq": "STNYRLAPKYHFPIQFEDVY", "snv": [ { "evidence": [ { "id": "rs1716194033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716194033" }, { "id": "rs1716194033", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716194033" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820443", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V141", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs760075146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760075146" }, { "id": "rs760075146", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760075146" }, { "id": "rs760075146", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760075146#frequency_tab" }, { "id": "rs760075146", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760075146" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151820442", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V141", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs760075146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760075146" }, { "id": "rs760075146", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760075146" }, { "id": "rs760075146", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760075146#frequency_tab" }, { "id": "rs760075146", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760075146" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820442", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V141", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.142.142", "start_pos": 142, "end_pos": 142, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs767989503", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767989503", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767989503", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767989503", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767989503", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767989503", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LSGYDLLSRWTADRLDAVVV", "down_seq": "TNYRLAPKYHFPIQFEDVYN", "snv": [ { "evidence": [ { "id": "rs767989503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767989503" }, { "id": "rs767989503", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767989503" }, { "id": "rs767989503", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767989503" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820446", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S142", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767989503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767989503" }, { "id": "rs767989503", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767989503" }, { "id": "rs767989503", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767989503" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820446", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S142", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.122.122", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.143.143", "start_pos": 143, "end_pos": 143, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1296543522", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1296543522", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1296543522", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1296543522", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SGYDLLSRWTADRLDAVVVS", "down_seq": "NYRLAPKYHFPIQFEDVYNA", "snv": [ { "evidence": [ { "id": "rs1296543522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1296543522" }, { "id": "rs1296543522", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1296543522" } ], "glycoeffect": [], "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820448", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T143", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.144.144", "start_pos": 144, "end_pos": 144, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs367822389", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367822389", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs367822389", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367822389#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs367822389", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367822389", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GYDLLSRWTADRLDAVVVST", "down_seq": "YRLAPKYHFPIQFEDVYNAL", "snv": [ { "evidence": [ { "id": "rs367822389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367822389" }, { "id": "rs367822389", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367822389#frequency_tab" }, { "id": "rs367822389", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367822389" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151820452", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N144", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.124.124", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.145.145", "start_pos": 145, "end_pos": 145, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs774342887", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774342887", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774342887", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774342887", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774342887", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774342887", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "YDLLSRWTADRLDAVVVSTN", "down_seq": "RLAPKYHFPIQFEDVYNALR", "snv": [ { "evidence": [ { "id": "rs774342887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774342887" }, { "id": "rs774342887", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774342887" }, { "id": "rs774342887", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774342887" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824665", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y145", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.147.147", "start_pos": 147, "end_pos": 147, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1303989646", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303989646", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1303989646", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1303989646#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1303989646", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1303989646", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1303989646", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1303989646", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "LLSRWTADRLDAVVVSTNYR", "down_seq": "APKYHFPIQFEDVYNALRWF", "snv": [ { "evidence": [ { "id": "rs1303989646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303989646" }, { "id": "rs1303989646", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1303989646#frequency_tab" }, { "id": "rs1303989646", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1303989646" }, { "id": "rs1303989646", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1303989646" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824671", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L147", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.148.148", "start_pos": 148, "end_pos": 148, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716399481", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716399481", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716399481", "url": "https://www.ensembl.org/id/rs1716399481", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LSRWTADRLDAVVVSTNYRL", "down_seq": "PKYHFPIQFEDVYNALRWFL", "snv": [ { "evidence": [ { "id": "rs1716399481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716399481" }, { "id": "rs1716399481", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1716399481" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824673", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A148", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.14.14", "start_pos": 14, "end_pos": 14, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs781167260", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781167260", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781167260", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781167260", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs781167260", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781167260#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs781167260", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781167260", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "MGRKSLYLLIVGI", "down_seq": "IAYYIYTPLPDNVEEPWRMM", "snv": [ { "evidence": [ { "id": "rs781167260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781167260" }, { "id": "rs781167260", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781167260" }, { "id": "rs781167260", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781167260#frequency_tab" }, { "id": "rs781167260", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781167260" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814202", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L14", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781167260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781167260" }, { "id": "rs781167260", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781167260" }, { "id": "rs781167260", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781167260#frequency_tab" }, { "id": "rs781167260", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781167260" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814202", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L14", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P22760-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.34.34", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.150.150", "start_pos": 150, "end_pos": 150, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1195708112", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195708112", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1195708112", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1195708112", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs551253200", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs551253200", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs551253200", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs551253200", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs551253200", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs551253200", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs551253200", "url": "https://www.ncbi.nlm.nih.gov/snp/rs551253200#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs551253200", "url": "http://gnomad.broadinstitute.org/awesome?query=rs551253200", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "RWTADRLDAVVVSTNYRLAP", "down_seq": "YHFPIQFEDVYNALRWFLRK", "snv": [ { "evidence": [ { "id": "rs1195708112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195708112" }, { "id": "rs1195708112", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1195708112" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824679", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K150", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs551253200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs551253200" }, { "id": "rs551253200", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs551253200" }, { "id": "rs551253200", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs551253200" }, { "id": "rs551253200", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs551253200#frequency_tab" }, { "id": "rs551253200", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs551253200" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824681", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "K150", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.152.152", "start_pos": 152, "end_pos": 152, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1431238437", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1431238437", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1431238437", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1431238437#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1431238437", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1431238437", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1477964979", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1477964979", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1477964979", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1477964979#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1477964979", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1477964979", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1477964979", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1477964979", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "TADRLDAVVVSTNYRLAPKY", "down_seq": "FPIQFEDVYNALRWFLRKKV", "snv": [ { "evidence": [ { "id": "rs1431238437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1431238437" }, { "id": "rs1431238437", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1431238437#frequency_tab" }, { "id": "rs1431238437", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1431238437" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824686", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H152", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs1477964979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1477964979" }, { "id": "rs1477964979", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1477964979#frequency_tab" }, { "id": "rs1477964979", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1477964979" }, { "id": "rs1477964979", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1477964979" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824685", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H152", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824685", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H152", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.154.154", "start_pos": 154, "end_pos": 154, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1368252533", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1368252533", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1368252533", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1368252533#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1368252533", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1368252533", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "DRLDAVVVSTNYRLAPKYHF", "down_seq": "IQFEDVYNALRWFLRKKVLA", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs1368252533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1368252533" }, { "id": "rs1368252533", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1368252533#frequency_tab" }, { "id": "rs1368252533", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1368252533" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824692", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P154", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824691", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P154", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.155.155", "start_pos": 155, "end_pos": 155, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs764400179", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764400179", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764400179", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764400179", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764400179", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764400179", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "RLDAVVVSTNYRLAPKYHFP", "down_seq": "QFEDVYNALRWFLRKKVLAK", "snv": [ { "evidence": [ { "id": "rs764400179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764400179" }, { "id": "rs764400179", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764400179" }, { "id": "rs764400179", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764400179" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824694", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I155", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.156.156", "start_pos": 156, "end_pos": 156, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs867019887", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867019887", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs867019887", "url": "https://www.ensembl.org/id/rs867019887", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs867019887", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs867019887", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "LDAVVVSTNYRLAPKYHFPI", "down_seq": "FEDVYNALRWFLRKKVLAKY", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs867019887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867019887" }, { "id": "rs867019887", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867019887" }, { "id": "rs867019887", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs867019887" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824697", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q156", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.157.157", "start_pos": 157, "end_pos": 157, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs754202737", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754202737", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs754202737", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754202737", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs754202737", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754202737", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs779223623", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779223623", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779223623", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779223623", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779223623", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779223623#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs779223623", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779223623", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "DAVVVSTNYRLAPKYHFPIQ", "down_seq": "EDVYNALRWFLRKKVLAKYG", "snv": [ { "evidence": [ { "id": "rs754202737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754202737" }, { "id": "rs754202737", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754202737" }, { "id": "rs754202737", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754202737" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824700", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F157", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779223623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779223623" }, { "id": "rs779223623", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779223623" }, { "id": "rs779223623", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779223623#frequency_tab" }, { "id": "rs779223623", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779223623" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824701", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F157", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754202737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754202737" }, { "id": "rs754202737", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754202737" }, { "id": "rs754202737", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754202737" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824700", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F157", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.15.15", "start_pos": 15, "end_pos": 15, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs550415872", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550415872", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs550415872", "url": "https://www.ncbi.nlm.nih.gov/snp/rs550415872#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs550415872", "url": "http://gnomad.broadinstitute.org/awesome?query=rs550415872", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "MGRKSLYLLIVGIL", "down_seq": "AYYIYTPLPDNVEEPWRMMW", "snv": [ { "evidence": [ { "id": "rs550415872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550415872" }, { "id": "rs550415872", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs550415872#frequency_tab" }, { "id": "rs550415872", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs550415872" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814206", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I15", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151814205", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I15", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P22760-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.35.35", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.160.160", "start_pos": 160, "end_pos": 160, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs766045702", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766045702", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766045702", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766045702", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766045702", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766045702", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "VVSTNYRLAPKYHFPIQFED", "down_seq": "YNALRWFLRKKVLAKYGVNP", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824710", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "V160", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs766045702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766045702" }, { "id": "rs766045702", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766045702" }, { "id": "rs766045702", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766045702" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824709", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V160", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.161.161", "start_pos": 161, "end_pos": 161, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "VSTNYRLAPKYHFPIQFEDV", "down_seq": "NALRWFLRKKVLAKYGVNPE", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824713", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y161", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.163.163", "start_pos": 163, "end_pos": 163, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs754536788", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754536788", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs754536788", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754536788", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs754536788", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754536788", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "TNYRLAPKYHFPIQFEDVYN", "down_seq": "LRWFLRKKVLAKYGVNPERI", "snv": [ { "evidence": [ { "id": "rs754536788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754536788" }, { "id": "rs754536788", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754536788" }, { "id": "rs754536788", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754536788" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824719", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A163", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.164.164", "start_pos": 164, "end_pos": 164, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716402473", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716402473", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716402473", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716402473", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "NYRLAPKYHFPIQFEDVYNA", "down_seq": "RWFLRKKVLAKYGVNPERIG", "snv": [ { "evidence": [ { "id": "rs1716402473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716402473" }, { "id": "rs1716402473", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716402473" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824723", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L164", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.165.165", "start_pos": 165, "end_pos": 165, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1434185052", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434185052", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1434185052", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434185052", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YRLAPKYHFPIQFEDVYNAL", "down_seq": "WFLRKKVLAKYGVNPERIGI", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs1434185052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434185052" }, { "id": "rs1434185052", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434185052" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824726", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R165", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.167.167", "start_pos": 167, "end_pos": 167, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1284717131", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1284717131", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1284717131", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1284717131", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "LAPKYHFPIQFEDVYNALRW", "down_seq": "LRKKVLAKYGVNPERIGISG", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs1284717131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1284717131" }, { "id": "rs1284717131", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1284717131" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824731", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F167", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.147.147", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.168.168", "start_pos": 168, "end_pos": 168, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs780788025", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780788025", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780788025", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780788025", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780788025", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780788025", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "APKYHFPIQFEDVYNALRWF", "down_seq": "RKKVLAKYGVNPERIGISGD", "snv": [ { "evidence": [ { "id": "rs780788025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780788025" }, { "id": "rs780788025", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780788025" }, { "id": "rs780788025", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780788025" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824735", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L168", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.148.148", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.169.169", "start_pos": 169, "end_pos": 169, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs377143427", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377143427", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs377143427", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377143427", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs377143427", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377143427#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs377143427", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377143427", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs377143427", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs377143427", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs756073579", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756073579", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs756073579", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs756073579", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs756073579", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756073579", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs756073579", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756073579#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs756073579", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs756073579", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs756073579", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756073579", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PKYHFPIQFEDVYNALRWFL", "down_seq": "KKVLAKYGVNPERIGISGDS", "snv": [ { "evidence": [ { "id": "rs377143427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377143427" }, { "id": "rs377143427", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377143427" }, { "id": "rs377143427", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377143427#frequency_tab" }, { "id": "rs377143427", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377143427" }, { "id": "rs377143427", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs377143427" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824736", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R169", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs756073579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756073579" }, { "id": "rs756073579", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs756073579" }, { "id": "rs756073579", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756073579" }, { "id": "rs756073579", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756073579#frequency_tab" }, { "id": "rs756073579", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs756073579" }, { "id": "rs756073579", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756073579" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "NC_000003.12", "chr_pos": "151824737", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "0.000030", "site_lbl": "R169", "keywords": [ "ebi", "somatic", "germline" ] }, { "evidence": [ { "id": "rs377143427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377143427" }, { "id": "rs377143427", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377143427" }, { "id": "rs377143427", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377143427#frequency_tab" }, { "id": "rs377143427", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377143427" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824736", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R169", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.16.16", "start_pos": 16, "end_pos": 16, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1318215402", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1318215402", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1318215402", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1318215402#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1318215402", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1318215402", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MGRKSLYLLIVGILI", "down_seq": "YYIYTPLPDNVEEPWRMMWI", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151814208", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A16", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1318215402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1318215402" }, { "id": "rs1318215402", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1318215402#frequency_tab" }, { "id": "rs1318215402", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1318215402" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814209", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A16", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P22760-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.35.35", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.170.170", "start_pos": 170, "end_pos": 170, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2108034086", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2108034086", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2108034086", "url": "https://www.ensembl.org/id/rs2108034086", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KYHFPIQFEDVYNALRWFLR", "down_seq": "KVLAKYGVNPERIGISGDSA", "snv": [ { "evidence": [ { "id": "rs2108034086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2108034086" }, { "id": "rs2108034086", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2108034086" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824739", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K170", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.172.172", "start_pos": 172, "end_pos": 172, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs35084477", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35084477", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs35084477", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs35084477", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs35084477", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35084477", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs35084477", "url": "https://www.ncbi.nlm.nih.gov/snp/rs35084477#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs35084477", "url": "http://gnomad.broadinstitute.org/awesome?query=rs35084477", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "HFPIQFEDVYNALRWFLRKK", "down_seq": "LAKYGVNPERIGISGDSAGG", "snv": [ { "evidence": [ { "id": "rs35084477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35084477" }, { "id": "rs35084477", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs35084477" }, { "id": "rs35084477", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35084477" }, { "id": "rs35084477", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs35084477#frequency_tab" }, { "id": "rs35084477", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs35084477" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824745", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0107928", "site_lbl": "V172", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs35084477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35084477" }, { "id": "rs35084477", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs35084477" }, { "id": "rs35084477", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35084477" }, { "id": "rs35084477", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs35084477#frequency_tab" }, { "id": "rs35084477", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs35084477" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824745", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0107928", "site_lbl": "V172", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs35084477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35084477" }, { "id": "rs35084477", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs35084477" }, { "id": "rs35084477", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35084477" }, { "id": "rs35084477", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs35084477#frequency_tab" }, { "id": "rs35084477", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs35084477" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824745", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0107928", "site_lbl": "V172", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.152.152", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.173.173", "start_pos": 173, "end_pos": 173, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "FPIQFEDVYNALRWFLRKKV", "down_seq": "AKYGVNPERIGISGDSAGGN", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824748", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L173", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824748", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L173", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.174.174", "start_pos": 174, "end_pos": 174, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1716403996", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716403996", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716403996", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716403996#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "PIQFEDVYNALRWFLRKKVL", "down_seq": "KYGVNPERIGISGDSAGGNL", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824751", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A174", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1716403996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716403996" }, { "id": "rs1716403996", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716403996#frequency_tab" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824752", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A174", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.155.155", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.176.176", "start_pos": 176, "end_pos": 176, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs775508718", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775508718", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775508718", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775508718", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775508718", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775508718", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "QFEDVYNALRWFLRKKVLAK", "down_seq": "GVNPERIGISGDSAGGNLAA", "snv": [ { "evidence": [ { "id": "rs775508718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775508718" }, { "id": "rs775508718", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775508718" }, { "id": "rs775508718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775508718" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824758", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y176", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.157.157", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.179.179", "start_pos": 179, "end_pos": 179, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716404759", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716404759", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716404759", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716404759", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "DVYNALRWFLRKKVLAKYGV", "down_seq": "PERIGISGDSAGGNLAAAVT", "snv": [ { "evidence": [ { "id": "rs1716404759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716404759" }, { "id": "rs1716404759", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716404759" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824768", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N179", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.17.17", "start_pos": 17, "end_pos": 17, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1715880328", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1715880328", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1715880328", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1715880328#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1715880328", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1715880328", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "MGRKSLYLLIVGILIA", "down_seq": "YIYTPLPDNVEEPWRMMWIN", "snv": [ { "evidence": [ { "id": "rs1715880328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1715880328" }, { "id": "rs1715880328", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1715880328#frequency_tab" }, { "id": "rs1715880328", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1715880328" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814213", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y17", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Y", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151814211", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y17", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "P22760-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.37.37", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.180.180", "start_pos": 180, "end_pos": 180, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716404861", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716404861", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716404861", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716404861", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "VYNALRWFLRKKVLAKYGVN", "down_seq": "ERIGISGDSAGGNLAAAVTQ", "snv": [ { "evidence": [ { "id": "rs1716404861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716404861" }, { "id": "rs1716404861", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716404861" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824770", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P180", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824769", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P180", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.181.181", "start_pos": 181, "end_pos": 181, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs769186441", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769186441", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs769186441", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769186441", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs769186441", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769186441#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs769186441", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769186441", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "YNALRWFLRKKVLAKYGVNP", "down_seq": "RIGISGDSAGGNLAAAVTQQ", "snv": [ { "evidence": [ { "id": "rs769186441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769186441" }, { "id": "rs769186441", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769186441" }, { "id": "rs769186441", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769186441#frequency_tab" }, { "id": "rs769186441", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769186441" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824772", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E181", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769186441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769186441" }, { "id": "rs769186441", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769186441" }, { "id": "rs769186441", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769186441#frequency_tab" }, { "id": "rs769186441", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769186441" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824772", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E181", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.182.182", "start_pos": 182, "end_pos": 182, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NALRWFLRKKVLAKYGVNPE", "down_seq": "IGISGDSAGGNLAAAVTQQL", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824776", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R182", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.184.184", "start_pos": 184, "end_pos": 184, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1389735094", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389735094", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1389735094", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1389735094", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1389735094", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1389735094", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "rs536814628", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536814628", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs536814628", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs536814628", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs536814628", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536814628", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs536814628", "url": "https://www.ncbi.nlm.nih.gov/snp/rs536814628#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs536814628", "url": "http://gnomad.broadinstitute.org/awesome?query=rs536814628", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs536814628", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs536814628", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LRWFLRKKVLAKYGVNPERI", "down_seq": "ISGDSAGGNLAAAVTQQLLD", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs1389735094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389735094" }, { "id": "rs1389735094", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1389735094" }, { "id": "rs1389735094", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1389735094" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824782", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G184", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs536814628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536814628" }, { "id": "rs536814628", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs536814628" }, { "id": "rs536814628", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536814628" }, { "id": "rs536814628", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs536814628#frequency_tab" }, { "id": "rs536814628", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs536814628" }, { "id": "rs536814628", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs536814628" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824781", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G184", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.186.186", "start_pos": 186, "end_pos": 186, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs369720545", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369720545", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs369720545", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369720545", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs369720545", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369720545#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs369720545", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369720545", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "WFLRKKVLAKYGVNPERIGI", "down_seq": "GDSAGGNLAAAVTQQLLDDP", "snv": [ { "evidence": [ { "id": "rs369720545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369720545" }, { "id": "rs369720545", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369720545" }, { "id": "rs369720545", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369720545#frequency_tab" }, { "id": "rs369720545", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369720545" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824787", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S186", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824788", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S186", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.187.187", "start_pos": 187, "end_pos": 187, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs751266542", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751266542", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751266542", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751266542", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751266542", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751266542#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs751266542", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751266542", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "FLRKKVLAKYGVNPERIGIS", "down_seq": "DSAGGNLAAAVTQQLLDDPD", "snv": [ { "evidence": [ { "id": "rs751266542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751266542" }, { "id": "rs751266542", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751266542" }, { "id": "rs751266542", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751266542#frequency_tab" }, { "id": "rs751266542", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751266542" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824791", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G187", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751266542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751266542" }, { "id": "rs751266542", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751266542" }, { "id": "rs751266542", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751266542#frequency_tab" }, { "id": "rs751266542", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751266542" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824791", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G187", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.188.188", "start_pos": 188, "end_pos": 188, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1408712094", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408712094", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1408712094", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408712094", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LRKKVLAKYGVNPERIGISG", "down_seq": "SAGGNLAAAVTQQLLDDPDV", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824793", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D188", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "4", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824793", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D188", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1408712094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408712094" }, { "id": "rs1408712094", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408712094" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824793", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D188", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.168.168", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.170.170", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.18.18", "start_pos": 18, "end_pos": 18, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748233143", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748233143", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748233143", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748233143", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748233143", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748233143#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs748233143", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748233143", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1715880476", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1715880476", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1715880476", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1715880476#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "MGRKSLYLLIVGILIAY", "down_seq": "IYTPLPDNVEEPWRMMWINA", "snv": [ { "evidence": [ { "id": "rs748233143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748233143" }, { "id": "rs748233143", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748233143" }, { "id": "rs748233143", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748233143#frequency_tab" }, { "id": "rs748233143", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748233143" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814215", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y18", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1715880476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1715880476" }, { "id": "rs1715880476", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1715880476#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814214", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y18", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P22760-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.38.38", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.192.192", "start_pos": 192, "end_pos": 192, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1337201421", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1337201421", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1337201421", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1337201421", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "VLAKYGVNPERIGISGDSAG", "down_seq": "NLAAAVTQQLLDDPDVKIKL", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs1337201421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1337201421" }, { "id": "rs1337201421", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1337201421" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824806", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G192", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.193.193", "start_pos": 193, "end_pos": 193, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716406682", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716406682", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716406682", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716406682#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1716406682", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716406682", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LAKYGVNPERIGISGDSAGG", "down_seq": "LAAAVTQQLLDDPDVKIKLK", "snv": [ { "evidence": [ { "id": "rs1716406682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716406682" }, { "id": "rs1716406682", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716406682#frequency_tab" }, { "id": "rs1716406682", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716406682" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824809", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N193", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.174.174", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.196.196", "start_pos": 196, "end_pos": 196, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716406794", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716406794", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716406794", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716406794#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1716406794", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716406794", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "YGVNPERIGISGDSAGGNLA", "down_seq": "AVTQQLLDDPDVKIKLKIQS", "snv": [ { "evidence": [ { "id": "rs1716406794", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716406794" }, { "id": "rs1716406794", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716406794#frequency_tab" }, { "id": "rs1716406794", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716406794" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824817", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A196", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.198.198", "start_pos": 198, "end_pos": 198, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs767163875", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767163875", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767163875", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767163875", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767163875", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767163875#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs767163875", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767163875", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs767163875", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs767163875", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "VNPERIGISGDSAGGNLAAA", "down_seq": "TQQLLDDPDVKIKLKIQSLI", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs767163875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767163875" }, { "id": "rs767163875", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767163875" }, { "id": "rs767163875", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767163875#frequency_tab" }, { "id": "rs767163875", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767163875" }, { "id": "rs767163875", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs767163875" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824823", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V198", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.199.199", "start_pos": 199, "end_pos": 199, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs752221154", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752221154", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752221154", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752221154", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752221154", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752221154#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs752221154", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752221154", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs372944149", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372944149", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs372944149", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372944149", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs372944149", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372944149#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs372944149", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372944149", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "NPERIGISGDSAGGNLAAAV", "down_seq": "QQLLDDPDVKIKLKIQSLIY", "snv": [ { "evidence": [ { "id": "rs752221154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752221154" }, { "id": "rs752221154", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752221154" }, { "id": "rs752221154", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752221154#frequency_tab" }, { "id": "rs752221154", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752221154" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824826", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T199", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372944149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372944149" }, { "id": "rs372944149", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372944149" }, { "id": "rs372944149", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372944149#frequency_tab" }, { "id": "rs372944149", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372944149" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824827", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T199", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.19.19", "start_pos": 19, "end_pos": 19, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1212716993", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212716993", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1212716993", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1212716993", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs773763143", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773763143", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773763143", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773763143", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773763143", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773763143", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "MGRKSLYLLIVGILIAYY", "down_seq": "YTPLPDNVEEPWRMMWINAH", "snv": [ { "evidence": [ { "id": "rs1212716993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212716993" }, { "id": "rs1212716993", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1212716993" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814218", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I19", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773763143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773763143" }, { "id": "rs773763143", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773763143" }, { "id": "rs773763143", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773763143" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814217", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I19", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P22760-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.39.39", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.200.200", "start_pos": 200, "end_pos": 200, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1249689082", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1249689082", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1249689082", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1249689082", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "PERIGISGDSAGGNLAAAVT", "down_seq": "QLLDDPDVKIKLKIQSLIYP", "snv": [ { "evidence": [ { "id": "rs1249689082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1249689082" }, { "id": "rs1249689082", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1249689082" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151824829", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q200", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151824829", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q200", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.202.202", "start_pos": 202, "end_pos": 202, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1339176058", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339176058", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1339176058", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1339176058", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "RIGISGDSAGGNLAAAVTQQ", "down_seq": "LDDPDVKIKLKIQSLIYPAL", "snv": [ { "evidence": [ { "id": "rs1339176058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339176058" }, { "id": "rs1339176058", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1339176058" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827577", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L202", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827576", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L202", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.203.203", "start_pos": 203, "end_pos": 203, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "IGISGDSAGGNLAAAVTQQL", "down_seq": "DDPDVKIKLKIQSLIYPALQ", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827579", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L203", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827579", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L203", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.204.204", "start_pos": 204, "end_pos": 204, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs986142347", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs986142347", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs986142347", "url": "https://www.ensembl.org/id/rs986142347", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GISGDSAGGNLAAAVTQQLL", "down_seq": "DPDVKIKLKIQSLIYPALQP", "snv": [ { "evidence": [ { "id": "rs986142347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs986142347" }, { "id": "rs986142347", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs986142347" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827583", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D204", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.205.205", "start_pos": 205, "end_pos": 205, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs911921175", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs911921175", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs911921175", "url": "https://www.ensembl.org/id/rs911921175", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ISGDSAGGNLAAAVTQQLLD", "down_seq": "PDVKIKLKIQSLIYPALQPL", "snv": [ { "evidence": [ { "id": "rs911921175", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs911921175" }, { "id": "rs911921175", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs911921175" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827587", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D205", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.206.206", "start_pos": 206, "end_pos": 206, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs781080711", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781080711", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781080711", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781080711", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs781080711", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781080711", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SGDSAGGNLAAAVTQQLLDD", "down_seq": "DVKIKLKIQSLIYPALQPLD", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827588", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P206", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs781080711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781080711" }, { "id": "rs781080711", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781080711" }, { "id": "rs781080711", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781080711" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827588", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P206", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.207.207", "start_pos": 207, "end_pos": 207, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1228282097", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1228282097", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs372408554", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372408554", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs372408554", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372408554#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs372408554", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372408554", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs748717673", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748717673", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748717673", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748717673", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748717673", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748717673#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs748717673", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748717673", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GDSAGGNLAAAVTQQLLDDP", "down_seq": "VKIKLKIQSLIYPALQPLDV", "snv": [ { "evidence": [ { "id": "rs1228282097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1228282097" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827593", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D207", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372408554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372408554" }, { "id": "rs372408554", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372408554#frequency_tab" }, { "id": "rs372408554", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372408554" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827591", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D207", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748717673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748717673" }, { "id": "rs748717673", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748717673" }, { "id": "rs748717673", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748717673#frequency_tab" }, { "id": "rs748717673", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748717673" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827592", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D207", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.211.211", "start_pos": 211, "end_pos": 211, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs540723216", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs540723216", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs540723216", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs540723216", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs540723216", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs540723216", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs540723216", "url": "https://www.ncbi.nlm.nih.gov/snp/rs540723216#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs540723216", "url": "http://gnomad.broadinstitute.org/awesome?query=rs540723216", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GGNLAAAVTQQLLDDPDVKI", "down_seq": "LKIQSLIYPALQPLDVDLPS", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827603", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K211", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs540723216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs540723216" }, { "id": "rs540723216", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs540723216" }, { "id": "rs540723216", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs540723216" }, { "id": "rs540723216", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs540723216#frequency_tab" }, { "id": "rs540723216", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs540723216" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827605", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K211", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.213.213", "start_pos": 213, "end_pos": 213, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs976604949", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs976604949", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs976604949", "url": "https://www.ensembl.org/id/rs976604949", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1377079178", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1377079178", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1377079178", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1377079178", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1716555024", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716555024", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716555024", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716555024#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1716555024", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716555024", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "NLAAAVTQQLLDDPDVKIKL", "down_seq": "IQSLIYPALQPLDVDLPSYQ", "snv": [ { "evidence": [ { "id": "rs976604949", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs976604949" }, { "id": "rs976604949", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs976604949" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827610", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1377079178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1377079178" }, { "id": "rs1377079178", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1377079178" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827611", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1716555024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716555024" }, { "id": "rs1716555024", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716555024#frequency_tab" }, { "id": "rs1716555024", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716555024" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827609", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K213", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.214.214", "start_pos": 214, "end_pos": 214, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1205792218", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1205792218", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1205792218", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1205792218#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1205792218", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1205792218", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "LAAAVTQQLLDDPDVKIKLK", "down_seq": "QSLIYPALQPLDVDLPSYQE", "snv": [ { "evidence": [ { "id": "rs1205792218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1205792218" }, { "id": "rs1205792218", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1205792218#frequency_tab" }, { "id": "rs1205792218", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1205792218" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827614", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I214", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.215.215", "start_pos": 215, "end_pos": 215, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716555545", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716555545", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716555545", "url": "https://www.ensembl.org/id/rs1716555545", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "AAAVTQQLLDDPDVKIKLKI", "down_seq": "SLIYPALQPLDVDLPSYQEN", "snv": [ { "evidence": [ { "id": "rs1716555545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716555545" }, { "id": "rs1716555545", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1716555545" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827616", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q215", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.216.216", "start_pos": 216, "end_pos": 216, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AAVTQQLLDDPDVKIKLKIQ", "down_seq": "LIYPALQPLDVDLPSYQENS", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827619", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S216", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.217.217", "start_pos": 217, "end_pos": 217, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs923877472", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs923877472", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs923877472", "url": "https://www.ensembl.org/id/rs923877472", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "AVTQQLLDDPDVKIKLKIQS", "down_seq": "IYPALQPLDVDLPSYQENSN", "snv": [ { "evidence": [ { "id": "rs923877472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs923877472" }, { "id": "rs923877472", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs923877472" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827622", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L217", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.218.218", "start_pos": 218, "end_pos": 218, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "VTQQLLDDPDVKIKLKIQSL", "down_seq": "YPALQPLDVDLPSYQENSNF", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827626", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I218", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.219.219", "start_pos": 219, "end_pos": 219, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716555769", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716555769", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716555769", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716555769", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "TQQLLDDPDVKIKLKIQSLI", "down_seq": "PALQPLDVDLPSYQENSNFL", "snv": [ { "evidence": [ { "id": "rs1716555769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716555769" }, { "id": "rs1716555769", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716555769" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827629", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y219", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827627", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y219", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.21.21", "start_pos": 21, "end_pos": 21, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1397174965", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1397174965", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1397174965", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1397174965#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1397174965", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1397174965", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs763301411", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763301411", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763301411", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763301411", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763301411", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763301411", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MGRKSLYLLIVGILIAYYIY", "down_seq": "PLPDNVEEPWRMMWINAHLK", "snv": [ { "evidence": [ { "id": "rs1397174965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1397174965" }, { "id": "rs1397174965", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1397174965#frequency_tab" }, { "id": "rs1397174965", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1397174965" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814223", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T21", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763301411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763301411" }, { "id": "rs763301411", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763301411" }, { "id": "rs763301411", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763301411" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814224", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T21", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763301411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763301411" }, { "id": "rs763301411", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763301411" }, { "id": "rs763301411", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763301411" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814224", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T21", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.39.39", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.220.220", "start_pos": 220, "end_pos": 220, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "QQLLDDPDVKIKLKIQSLIY", "down_seq": "ALQPLDVDLPSYQENSNFLF", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827630", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P220", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.221.221", "start_pos": 221, "end_pos": 221, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1243594974", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243594974", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1243594974", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1243594974", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "QLLDDPDVKIKLKIQSLIYP", "down_seq": "LQPLDVDLPSYQENSNFLFL", "snv": [ { "evidence": [ { "id": "rs1243594974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243594974" }, { "id": "rs1243594974", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1243594974" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827634", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A221", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.222.222", "start_pos": 222, "end_pos": 222, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "LLDDPDVKIKLKIQSLIYPA", "down_seq": "QPLDVDLPSYQENSNFLFLS", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827637", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L222", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827636", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L222", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.223.223", "start_pos": 223, "end_pos": 223, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1464274682", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1464274682", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1464274682", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1464274682", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1716556109", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716556109", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716556109", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716556109#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "LDDPDVKIKLKIQSLIYPAL", "down_seq": "PLDVDLPSYQENSNFLFLSK", "snv": [ { "evidence": [ { "id": "rs1464274682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1464274682" }, { "id": "rs1464274682", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1464274682" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827639", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q223", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1716556109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716556109" }, { "id": "rs1716556109", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716556109#frequency_tab" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827640", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q223", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.224.224", "start_pos": 224, "end_pos": 224, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1560314617", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1560314617", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1560314617", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1560314617#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "DDPDVKIKLKIQSLIYPALQ", "down_seq": "LDVDLPSYQENSNFLFLSKS", "snv": [ { "evidence": [ { "id": "rs1560314617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1560314617" }, { "id": "rs1560314617", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1560314617#frequency_tab" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827642", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P224", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1560314617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1560314617" }, { "id": "rs1560314617", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1560314617#frequency_tab" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827642", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P224", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.205.205", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.226.226", "start_pos": 226, "end_pos": 226, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716556381", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716556381", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716556381", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716556381#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1716556381", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716556381", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PDVKIKLKIQSLIYPALQPL", "down_seq": "VDLPSYQENSNFLFLSKSLM", "snv": [ { "evidence": [ { "id": "rs1716556381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716556381" }, { "id": "rs1716556381", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716556381#frequency_tab" }, { "id": "rs1716556381", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716556381" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827648", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D226", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.206.206", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.227.227", "start_pos": 227, "end_pos": 227, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1263810165", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1263810165", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1263810165", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1263810165", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs758400162", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758400162", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs758400162", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758400162", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs758400162", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758400162#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs758400162", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758400162", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "DVKIKLKIQSLIYPALQPLD", "down_seq": "DLPSYQENSNFLFLSKSLMV", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs1263810165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1263810165" }, { "id": "rs1263810165", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1263810165" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827652", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "V227", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs758400162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758400162" }, { "id": "rs758400162", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758400162" }, { "id": "rs758400162", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758400162#frequency_tab" }, { "id": "rs758400162", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758400162" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827651", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V227", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.207.207", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.228.228", "start_pos": 228, "end_pos": 228, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs771916588", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771916588", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771916588", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771916588", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771916588", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771916588", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VKIKLKIQSLIYPALQPLDV", "down_seq": "LPSYQENSNFLFLSKSLMVR", "snv": [ { "evidence": [ { "id": "rs771916588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771916588" }, { "id": "rs771916588", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771916588" }, { "id": "rs771916588", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771916588" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827655", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D228", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827654", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D228", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.229.229", "start_pos": 229, "end_pos": 229, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs151039277", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151039277", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs151039277", "url": "https://www.ncbi.nlm.nih.gov/snp/rs151039277#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs151039277", "url": "http://gnomad.broadinstitute.org/awesome?query=rs151039277", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "KIKLKIQSLIYPALQPLDVD", "down_seq": "PSYQENSNFLFLSKSLMVRF", "snv": [ { "evidence": [ { "id": "rs151039277", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151039277" }, { "id": "rs151039277", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs151039277#frequency_tab" }, { "id": "rs151039277", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs151039277" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827659", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L229", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.22.22", "start_pos": 22, "end_pos": 22, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1045743923", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1045743923", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1045743923", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1045743923#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1045743923", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1045743923", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1715881434", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1715881434", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1715881434", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1715881434#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1715881434", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1715881434", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "GRKSLYLLIVGILIAYYIYT", "down_seq": "LPDNVEEPWRMMWINAHLKT", "snv": [ { "evidence": [ { "id": "rs1045743923", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1045743923" }, { "id": "rs1045743923", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1045743923#frequency_tab" }, { "id": "rs1045743923", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1045743923" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814227", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P22", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs1715881434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1715881434" }, { "id": "rs1715881434", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1715881434#frequency_tab" }, { "id": "rs1715881434", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1715881434" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151814226", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P22", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.42.42", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.230.230", "start_pos": 230, "end_pos": 230, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs140857747", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140857747", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs140857747", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140857747", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs140857747", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140857747", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "IKLKIQSLIYPALQPLDVDL", "down_seq": "SYQENSNFLFLSKSLMVRFW", "snv": [ { "evidence": [ { "id": "rs140857747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140857747" }, { "id": "rs140857747", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140857747" }, { "id": "rs140857747", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140857747" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827661", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P230", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827661", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P230", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.211.211", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.232.232", "start_pos": 232, "end_pos": 232, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs893547920", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs893547920", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs893547920", "url": "https://www.ncbi.nlm.nih.gov/snp/rs893547920#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs893547920", "url": "http://gnomad.broadinstitute.org/awesome?query=rs893547920", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs763690818", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763690818", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763690818", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763690818", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763690818", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763690818", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LKIQSLIYPALQPLDVDLPS", "down_seq": "QENSNFLFLSKSLMVRFWSE", "snv": [ { "evidence": [ { "id": "rs893547920", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs893547920" }, { "id": "rs893547920", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs893547920#frequency_tab" }, { "id": "rs893547920", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs893547920" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827667", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y232", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs763690818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763690818" }, { "id": "rs763690818", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763690818" }, { "id": "rs763690818", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763690818" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827666", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y232", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.233.233", "start_pos": 233, "end_pos": 233, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "KIQSLIYPALQPLDVDLPSY", "down_seq": "ENSNFLFLSKSLMVRFWSEY", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827669", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Q233", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.213.213", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.234.234", "start_pos": 234, "end_pos": 234, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs775973723", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775973723", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775973723", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775973723", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775973723", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775973723#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs775973723", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775973723", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "IQSLIYPALQPLDVDLPSYQ", "down_seq": "NSNFLFLSKSLMVRFWSEYF", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827674", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E234", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs775973723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775973723" }, { "id": "rs775973723", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775973723" }, { "id": "rs775973723", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775973723#frequency_tab" }, { "id": "rs775973723", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775973723" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827672", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E234", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775973723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775973723" }, { "id": "rs775973723", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775973723" }, { "id": "rs775973723", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775973723#frequency_tab" }, { "id": "rs775973723", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775973723" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827672", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E234", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.235.235", "start_pos": 235, "end_pos": 235, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "QSLIYPALQPLDVDLPSYQE", "down_seq": "SNFLFLSKSLMVRFWSEYFT", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827675", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N235", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.215.215", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.236.236", "start_pos": 236, "end_pos": 236, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716557908", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716557908", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716557908", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716557908#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SLIYPALQPLDVDLPSYQEN", "down_seq": "NFLFLSKSLMVRFWSEYFTT", "snv": [ { "evidence": [ { "id": "rs1716557908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716557908" }, { "id": "rs1716557908", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716557908#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827679", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S236", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827679", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S236", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.217.217", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.238.238", "start_pos": 238, "end_pos": 238, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1287444635", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1287444635", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1287444635", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1287444635", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "IYPALQPLDVDLPSYQENSN", "down_seq": "LFLSKSLMVRFWSEYFTTDR", "snv": [ { "evidence": [ { "id": "rs1287444635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1287444635" }, { "id": "rs1287444635", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1287444635" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827685", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F238", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.239.239", "start_pos": 239, "end_pos": 239, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs765148120", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765148120", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765148120", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765148120", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765148120", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765148120", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "YPALQPLDVDLPSYQENSNF", "down_seq": "FLSKSLMVRFWSEYFTTDRS", "snv": [ { "evidence": [ { "id": "rs765148120", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765148120" }, { "id": "rs765148120", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765148120" }, { "id": "rs765148120", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765148120" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827688", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L239", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.241.241", "start_pos": 241, "end_pos": 241, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1300745843", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1300745843", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1300745843", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1300745843", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "ALQPLDVDLPSYQENSNFLF", "down_seq": "SKSLMVRFWSEYFTTDRSLE", "snv": [ { "evidence": [ { "id": "rs1300745843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1300745843" }, { "id": "rs1300745843", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1300745843" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827694", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L241", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.221.221", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.242.242", "start_pos": 242, "end_pos": 242, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716559335", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716559335", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716559335", "url": "https://www.ensembl.org/id/rs1716559335", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LQPLDVDLPSYQENSNFLFL", "down_seq": "KSLMVRFWSEYFTTDRSLEK", "snv": [ { "evidence": [ { "id": "rs1716559335", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716559335" }, { "id": "rs1716559335", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1716559335" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827697", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S242", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.222.222", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.243.243", "start_pos": 243, "end_pos": 243, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs111875784", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111875784", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs111875784", "url": "https://www.ensembl.org/id/rs111875784", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "QPLDVDLPSYQENSNFLFLS", "down_seq": "SLMVRFWSEYFTTDRSLEKA", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827699", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K243", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs111875784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111875784" }, { "id": "rs111875784", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs111875784" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827700", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K243", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.244.244", "start_pos": 244, "end_pos": 244, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs750282468", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750282468", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750282468", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750282468", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750282468", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750282468#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs750282468", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750282468", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PLDVDLPSYQENSNFLFLSK", "down_seq": "LMVRFWSEYFTTDRSLEKAM", "snv": [ { "evidence": [ { "id": "rs750282468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750282468" }, { "id": "rs750282468", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750282468" }, { "id": "rs750282468", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750282468#frequency_tab" }, { "id": "rs750282468", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750282468" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827703", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S244", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.224.224", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.246.246", "start_pos": 246, "end_pos": 246, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs564120154", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs564120154", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs564120154", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs564120154", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs564120154", "url": "http://gnomad.broadinstitute.org/awesome?query=rs564120154", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "DVDLPSYQENSNFLFLSKSL", "down_seq": "VRFWSEYFTTDRSLEKAMLS", "snv": [ { "evidence": [ { "id": "rs564120154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs564120154" }, { "id": "rs564120154", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs564120154" }, { "id": "rs564120154", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs564120154" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827710", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "M246", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "M", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827709", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "M246", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.226.226", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.247.247", "start_pos": 247, "end_pos": 247, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs370064090", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370064090", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs370064090", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370064090", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs370064090", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370064090", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1264002804", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1264002804", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1264002804", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1264002804", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "VDLPSYQENSNFLFLSKSLM", "down_seq": "RFWSEYFTTDRSLEKAMLSR", "snv": [ { "evidence": [ { "id": "rs370064090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370064090" }, { "id": "rs370064090", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370064090" }, { "id": "rs370064090", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370064090" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827712", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V247", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs370064090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370064090" }, { "id": "rs370064090", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370064090" }, { "id": "rs370064090", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370064090" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827712", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V247", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1264002804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1264002804" }, { "id": "rs1264002804", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1264002804" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827711", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V247", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.227.227", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.248.248", "start_pos": 248, "end_pos": 248, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs766101327", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766101327", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766101327", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766101327", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766101327", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766101327#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs766101327", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766101327", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs186388618", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs186388618", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs186388618", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs186388618", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs186388618", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs186388618", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs186388618", "url": "https://www.ncbi.nlm.nih.gov/snp/rs186388618#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs186388618", "url": "http://gnomad.broadinstitute.org/awesome?query=rs186388618", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DLPSYQENSNFLFLSKSLMV", "down_seq": "FWSEYFTTDRSLEKAMLSRQ", "snv": [ { "evidence": [ { "id": "rs766101327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766101327" }, { "id": "rs766101327", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766101327" }, { "id": "rs766101327", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766101327#frequency_tab" }, { "id": "rs766101327", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766101327" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827715", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R248", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827715", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R248", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs186388618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs186388618" }, { "id": "rs186388618", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs186388618" }, { "id": "rs186388618", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs186388618" }, { "id": "rs186388618", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs186388618#frequency_tab" }, { "id": "rs186388618", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs186388618" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827716", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "R248", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.24.24", "start_pos": 24, "end_pos": 24, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1280865371", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1280865371", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1280865371", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1280865371", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KSLYLLIVGILIAYYIYTPL", "down_seq": "DNVEEPWRMMWINAHLKTIQ", "snv": [ { "evidence": [ { "id": "rs1280865371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1280865371" }, { "id": "rs1280865371", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1280865371" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814233", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P24", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151814233", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P24", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151814232", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P24", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.44.44", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.250.250", "start_pos": 250, "end_pos": 250, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716560393", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716560393", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716560393", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716560393#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "PSYQENSNFLFLSKSLMVRF", "down_seq": "SEYFTTDRSLEKAMLSRQHV", "snv": [ { "evidence": [ { "id": "rs1716560393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716560393" }, { "id": "rs1716560393", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716560393#frequency_tab" } ], "glycoeffect": [], "sequence_org": "W", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827721", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W250", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.251.251", "start_pos": 251, "end_pos": 251, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716560497", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716560497", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716560497", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716560497#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1716560497", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716560497", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SYQENSNFLFLSKSLMVRFW", "down_seq": "EYFTTDRSLEKAMLSRQHVP", "snv": [ { "evidence": [ { "id": "rs1716560497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716560497" }, { "id": "rs1716560497", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716560497#frequency_tab" }, { "id": "rs1716560497", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716560497" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827725", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S251", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.252.252", "start_pos": 252, "end_pos": 252, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs144460478", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144460478", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs144460478", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144460478", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs144460478", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144460478", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1716560746", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716560746", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716560746", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716560746#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "YQENSNFLFLSKSLMVRFWS", "down_seq": "YFTTDRSLEKAMLSRQHVPV", "snv": [ { "evidence": [ { "id": "rs144460478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144460478" }, { "id": "rs144460478", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144460478" }, { "id": "rs144460478", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144460478" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827726", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E252", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1716560746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716560746" }, { "id": "rs1716560746", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716560746#frequency_tab" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827727", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E252", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs144460478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144460478" }, { "id": "rs144460478", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144460478" }, { "id": "rs144460478", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144460478" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827726", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E252", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.257.257", "start_pos": 257, "end_pos": 257, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2108037548", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2108037548", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2108037548", "url": "https://www.ensembl.org/id/rs2108037548", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs748156796", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748156796", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748156796", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748156796", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748156796", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748156796", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "NFLFLSKSLMVRFWSEYFTT", "down_seq": "RSLEKAMLSRQHVPVESSHL", "snv": [ { "evidence": [ { "id": "rs2108037548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2108037548" }, { "id": "rs2108037548", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2108037548" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827741", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D257", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748156796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748156796" }, { "id": "rs748156796", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748156796" }, { "id": "rs748156796", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748156796" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827742", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D257", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.258.258", "start_pos": 258, "end_pos": 258, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1186825822", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186825822", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1186825822", "url": "https://www.ensembl.org/id/rs1186825822", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FLFLSKSLMVRFWSEYFTTD", "down_seq": "SLEKAMLSRQHVPVESSHLF", "snv": [ { "evidence": [ { "id": "rs1186825822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186825822" }, { "id": "rs1186825822", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1186825822" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827745", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R258", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827745", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R258", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.259.259", "start_pos": 259, "end_pos": 259, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LFLSKSLMVRFWSEYFTTDR", "down_seq": "LEKAMLSRQHVPVESSHLFK", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827748", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S259", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.25.25", "start_pos": 25, "end_pos": 25, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs568566549", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs568566549", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs568566549", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs568566549", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs568566549", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs568566549", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs568566549", "url": "https://www.ncbi.nlm.nih.gov/snp/rs568566549#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs568566549", "url": "http://gnomad.broadinstitute.org/awesome?query=rs568566549", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs763818646", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763818646", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763818646", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763818646", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763818646", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763818646", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SLYLLIVGILIAYYIYTPLP", "down_seq": "NVEEPWRMMWINAHLKTIQN", "snv": [ { "evidence": [ { "id": "rs568566549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs568566549" }, { "id": "rs568566549", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs568566549" }, { "id": "rs568566549", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs568566549" }, { "id": "rs568566549", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs568566549#frequency_tab" }, { "id": "rs568566549", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs568566549" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814236", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "D25", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763818646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763818646" }, { "id": "rs763818646", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763818646" }, { "id": "rs763818646", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763818646" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814235", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D25", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs568566549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs568566549" }, { "id": "rs568566549", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs568566549" }, { "id": "rs568566549", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs568566549" }, { "id": "rs568566549", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs568566549#frequency_tab" }, { "id": "rs568566549", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs568566549" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814236", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "D25", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.44.44", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.260.260", "start_pos": 260, "end_pos": 260, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716561476", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716561476", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716561476", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716561476#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "FLSKSLMVRFWSEYFTTDRS", "down_seq": "EKAMLSRQHVPVESSHLFKF", "snv": [ { "evidence": [ { "id": "rs1716561476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716561476" }, { "id": "rs1716561476", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716561476#frequency_tab" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827750", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L260", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.241.241", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.263.263", "start_pos": 263, "end_pos": 263, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1244034474", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1244034474", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1244034474", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1244034474#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1244034474", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1244034474", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1716561671", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716561671", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716561671", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716561671#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1716561671", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716561671", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "KSLMVRFWSEYFTTDRSLEK", "down_seq": "MLSRQHVPVESSHLFKFVNW", "snv": [ { "evidence": [ { "id": "rs1244034474", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1244034474" }, { "id": "rs1244034474", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1244034474#frequency_tab" }, { "id": "rs1244034474", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1244034474" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827760", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A263", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1716561671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716561671" }, { "id": "rs1716561671", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716561671#frequency_tab" }, { "id": "rs1716561671", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716561671" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827759", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A263", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.264.264", "start_pos": 264, "end_pos": 264, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1213781868", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213781868", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1213781868", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1213781868#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1213781868", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213781868", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs778421302", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778421302", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778421302", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778421302", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778421302", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778421302", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "SLMVRFWSEYFTTDRSLEKA", "down_seq": "LSRQHVPVESSHLFKFVNWS", "snv": [ { "evidence": [ { "id": "rs1213781868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213781868" }, { "id": "rs1213781868", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1213781868#frequency_tab" }, { "id": "rs1213781868", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213781868" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827764", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M264", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778421302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778421302" }, { "id": "rs778421302", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778421302" }, { "id": "rs778421302", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778421302" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827763", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M264", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.244.244", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.246.246", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.267.267", "start_pos": 267, "end_pos": 267, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs771436262", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771436262", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771436262", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771436262", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771436262", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771436262", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VRFWSEYFTTDRSLEKAMLS", "down_seq": "QHVPVESSHLFKFVNWSSLL", "snv": [ { "evidence": [ { "id": "rs771436262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771436262" }, { "id": "rs771436262", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771436262" }, { "id": "rs771436262", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771436262" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827772", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R267", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.247.247", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.268.268", "start_pos": 268, "end_pos": 268, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1487999475", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1487999475", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1487999475", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1487999475#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1487999475", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1487999475", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "RFWSEYFTTDRSLEKAMLSR", "down_seq": "HVPVESSHLFKFVNWSSLLP", "snv": [ { "evidence": [ { "id": "rs1487999475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1487999475" }, { "id": "rs1487999475", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1487999475#frequency_tab" }, { "id": "rs1487999475", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1487999475" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827776", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q268", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.269.269", "start_pos": 269, "end_pos": 269, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1454823589", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1454823589", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1454823589", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1454823589#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1454823589", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1454823589", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "FWSEYFTTDRSLEKAMLSRQ", "down_seq": "VPVESSHLFKFVNWSSLLPE", "snv": [ { "evidence": [ { "id": "rs1454823589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1454823589" }, { "id": "rs1454823589", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1454823589#frequency_tab" }, { "id": "rs1454823589", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1454823589" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827778", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "H269", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1454823589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1454823589" }, { "id": "rs1454823589", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1454823589#frequency_tab" }, { "id": "rs1454823589", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1454823589" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827778", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "H269", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.26.26", "start_pos": 26, "end_pos": 26, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs368408604", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368408604", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs368408604", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368408604", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs368408604", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368408604#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs368408604", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368408604", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LYLLIVGILIAYYIYTPLPD", "down_seq": "VEEPWRMMWINAHLKTIQNL", "snv": [ { "evidence": [ { "id": "rs368408604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368408604" }, { "id": "rs368408604", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368408604" }, { "id": "rs368408604", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368408604#frequency_tab" }, { "id": "rs368408604", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368408604" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814240", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N26", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.46.46", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.270.270", "start_pos": 270, "end_pos": 270, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716562820", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716562820", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716562820", "url": "https://www.ensembl.org/id/rs1716562820", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "WSEYFTTDRSLEKAMLSRQH", "down_seq": "PVESSHLFKFVNWSSLLPER", "snv": [ { "evidence": [ { "id": "rs1716562820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716562820" }, { "id": "rs1716562820", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1716562820" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827780", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V270", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.271.271", "start_pos": 271, "end_pos": 271, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1293461293", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293461293", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1293461293", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1293461293", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs779106918", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779106918", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779106918", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs779106918", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs779106918", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779106918", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779106918", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779106918", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SEYFTTDRSLEKAMLSRQHV", "down_seq": "VESSHLFKFVNWSSLLPERF", "snv": [ { "evidence": [ { "id": "rs1293461293", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293461293" }, { "id": "rs1293461293", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1293461293" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827783", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P271", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779106918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779106918" }, { "id": "rs779106918", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs779106918" }, { "id": "rs779106918", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779106918" }, { "id": "rs779106918", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779106918" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827784", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P271", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1293461293", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293461293" }, { "id": "rs1293461293", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1293461293" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827783", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P271", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.272.272", "start_pos": 272, "end_pos": 272, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716563223", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716563223", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716563223", "url": "https://www.ensembl.org/id/rs1716563223", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "EYFTTDRSLEKAMLSRQHVP", "down_seq": "ESSHLFKFVNWSSLLPERFI", "snv": [ { "evidence": [ { "id": "rs1716563223", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716563223" }, { "id": "rs1716563223", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1716563223" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827786", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V272", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.252.252", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.275.275", "start_pos": 275, "end_pos": 275, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1406864985", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1406864985", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1406864985", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1406864985", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TTDRSLEKAMLSRQHVPVES", "down_seq": "HLFKFVNWSSLLPERFIKGH", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827796", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S275", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1406864985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1406864985" }, { "id": "rs1406864985", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1406864985" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827796", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S275", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.277.277", "start_pos": 277, "end_pos": 277, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs867314991", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867314991", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs867314991", "url": "https://www.ensembl.org/id/rs867314991", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "DRSLEKAMLSRQHVPVESSH", "down_seq": "FKFVNWSSLLPERFIKGHVY", "snv": [ { "evidence": [ { "id": "rs867314991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867314991" }, { "id": "rs867314991", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867314991" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827802", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L277", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867314991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867314991" }, { "id": "rs867314991", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867314991" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827802", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L277", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.278.278", "start_pos": 278, "end_pos": 278, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "RSLEKAMLSRQHVPVESSHL", "down_seq": "KFVNWSSLLPERFIKGHVYN", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827806", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F278", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.279.279", "start_pos": 279, "end_pos": 279, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1560314759", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1560314759", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1560314759", "url": "https://www.ensembl.org/id/rs1560314759", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SLEKAMLSRQHVPVESSHLF", "down_seq": "FVNWSSLLPERFIKGHVYNN", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827807", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K279", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1560314759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1560314759" }, { "id": "rs1560314759", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1560314759" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827808", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K279", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.280.280", "start_pos": 280, "end_pos": 280, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "LEKAMLSRQHVPVESSHLFK", "down_seq": "VNWSSLLPERFIKGHVYNNP", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827811", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F280", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.260.260", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.281.281", "start_pos": 281, "end_pos": 281, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1803155", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1803155", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1803155", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1803155", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs1803155", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1803155", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs1803155", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1803155#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1803155", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1803155", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "EKAMLSRQHVPVESSHLFKF", "down_seq": "NWSSLLPERFIKGHVYNNPN", "snv": [ { "evidence": [ { "id": "rs1803155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1803155" }, { "id": "rs1803155", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1803155" }, { "id": "rs1803155", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1803155" }, { "id": "rs1803155", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1803155#frequency_tab" }, { "id": "rs1803155", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1803155" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827813", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V281", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1803155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1803155" }, { "id": "rs1803155", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1803155" }, { "id": "rs1803155", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1803155" }, { "id": "rs1803155", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1803155#frequency_tab" }, { "id": "rs1803155", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1803155" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827813", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V281", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.283.283", "start_pos": 283, "end_pos": 283, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1312498838", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1312498838", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1312498838", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1312498838#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "AMLSRQHVPVESSHLFKFVN", "down_seq": "SSLLPERFIKGHVYNNPNYG", "snv": [ { "evidence": [ { "id": "rs1312498838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1312498838" }, { "id": "rs1312498838", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1312498838#frequency_tab" } ], "glycoeffect": [], "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827819", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W283", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.263.263", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.264.264", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.285.285", "start_pos": 285, "end_pos": 285, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs773143489", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773143489", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773143489", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773143489", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773143489", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773143489", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LSRQHVPVESSHLFKFVNWS", "down_seq": "LLPERFIKGHVYNNPNYGSS", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827826", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S285", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs773143489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773143489" }, { "id": "rs773143489", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773143489" }, { "id": "rs773143489", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773143489" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827826", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S285", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.286.286", "start_pos": 286, "end_pos": 286, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1220483140", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1220483140", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1220483140", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1220483140", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "SRQHVPVESSHLFKFVNWSS", "down_seq": "LPERFIKGHVYNNPNYGSSE", "snv": [ { "evidence": [ { "id": "rs1220483140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1220483140" }, { "id": "rs1220483140", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1220483140" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827829", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L286", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.287.287", "start_pos": 287, "end_pos": 287, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1289534848", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289534848", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1289534848", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289534848", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1490809135", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1490809135", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1490809135", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1490809135", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "RQHVPVESSHLFKFVNWSSL", "down_seq": "PERFIKGHVYNNPNYGSSEL", "snv": [ { "evidence": [ { "id": "rs1289534848", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289534848" }, { "id": "rs1289534848", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289534848" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827831", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L287", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1490809135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1490809135" }, { "id": "rs1490809135", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1490809135" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827832", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L287", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.267.267", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.288.288", "start_pos": 288, "end_pos": 288, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1716565555", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716565555", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716565555", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716565555#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1716565555", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716565555", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "QHVPVESSHLFKFVNWSSLL", "down_seq": "ERFIKGHVYNNPNYGSSELA", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs1716565555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716565555" }, { "id": "rs1716565555", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716565555#frequency_tab" }, { "id": "rs1716565555", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716565555" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827834", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P288", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.289.289", "start_pos": 289, "end_pos": 289, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "HVPVESSHLFKFVNWSSLLP", "down_seq": "RFIKGHVYNNPNYGSSELAK", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827837", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E289", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.28.28", "start_pos": 28, "end_pos": 28, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs190697838", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs190697838", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs190697838", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs190697838", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs190697838", "url": "http://gnomad.broadinstitute.org/awesome?query=rs190697838", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "LLIVGILIAYYIYTPLPDNV", "down_seq": "EPWRMMWINAHLKTIQNLAT", "snv": [ { "evidence": [ { "id": "rs190697838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs190697838" }, { "id": "rs190697838", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs190697838" }, { "id": "rs190697838", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs190697838" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814244", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E28", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.48.48", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.290.290", "start_pos": 290, "end_pos": 290, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs149494101", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149494101", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs149494101", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149494101", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs149494101", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149494101#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs149494101", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149494101", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VPVESSHLFKFVNWSSLLPE", "down_seq": "FIKGHVYNNPNYGSSELAKK", "snv": [ { "evidence": [ { "id": "rs149494101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149494101" }, { "id": "rs149494101", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149494101" }, { "id": "rs149494101", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149494101#frequency_tab" }, { "id": "rs149494101", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149494101" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827842", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R290", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.291.291", "start_pos": 291, "end_pos": 291, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "PVESSHLFKFVNWSSLLPER", "down_seq": "IKGHVYNNPNYGSSELAKKY", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827844", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F291", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.271.271", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.292.292", "start_pos": 292, "end_pos": 292, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs994992469", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs994992469", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs994992469", "url": "https://www.ncbi.nlm.nih.gov/snp/rs994992469#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs994992469", "url": "http://gnomad.broadinstitute.org/awesome?query=rs994992469", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1716566540", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716566540", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716566540", "url": "https://www.ensembl.org/id/rs1716566540", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "VESSHLFKFVNWSSLLPERF", "down_seq": "KGHVYNNPNYGSSELAKKYP", "snv": [ { "evidence": [ { "id": "rs994992469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs994992469" }, { "id": "rs994992469", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs994992469#frequency_tab" }, { "id": "rs994992469", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs994992469" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827848", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I292", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1716566540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716566540" }, { "id": "rs1716566540", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1716566540" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827846", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I292", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.293.293", "start_pos": 293, "end_pos": 293, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs767622761", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767622761", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767622761", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767622761", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767622761", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767622761", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ESSHLFKFVNWSSLLPERFI", "down_seq": "GHVYNNPNYGSSELAKKYPG", "snv": [ { "evidence": [ { "id": "rs767622761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767622761" }, { "id": "rs767622761", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767622761" }, { "id": "rs767622761", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767622761" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827849", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K293", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.294.294", "start_pos": 294, "end_pos": 294, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752890596", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752890596", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752890596", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752890596", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752890596", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752890596#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs752890596", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752890596", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "SSHLFKFVNWSSLLPERFIK", "down_seq": "HVYNNPNYGSSELAKKYPGF", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827852", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G294", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs752890596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752890596" }, { "id": "rs752890596", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752890596" }, { "id": "rs752890596", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752890596#frequency_tab" }, { "id": "rs752890596", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752890596" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827852", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G294", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.295.295", "start_pos": 295, "end_pos": 295, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1398925733", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398925733", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1398925733", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1398925733#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1398925733", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398925733", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "SHLFKFVNWSSLLPERFIKG", "down_seq": "VYNNPNYGSSELAKKYPGFL", "snv": [ { "evidence": [ { "id": "rs1398925733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398925733" }, { "id": "rs1398925733", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1398925733#frequency_tab" }, { "id": "rs1398925733", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398925733" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827856", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H295", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.275.275", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.297.297", "start_pos": 297, "end_pos": 297, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1303900935", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303900935", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1303900935", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1303900935", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1427088822", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1427088822", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1427088822", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1427088822", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LFKFVNWSSLLPERFIKGHV", "down_seq": "NNPNYGSSELAKKYPGFLDV", "snv": [ { "evidence": [ { "id": "rs1303900935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303900935" }, { "id": "rs1303900935", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1303900935" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827863", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y297", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1427088822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1427088822" }, { "id": "rs1427088822", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1427088822" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827862", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y297", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.278.278", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.299.299", "start_pos": 299, "end_pos": 299, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs758881367", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758881367", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs758881367", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758881367#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "KFVNWSSLLPERFIKGHVYN", "down_seq": "PNYGSSELAKKYPGFLDVRA", "snv": [ { "evidence": [ { "id": "rs758881367", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758881367" }, { "id": "rs758881367", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758881367#frequency_tab" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827869", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N299", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827868", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N299", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.279.279", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.2.2", "start_pos": 2, "end_pos": 2, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs532572215", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532572215", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs532572215", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs532572215", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs532572215", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532572215", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs532572215", "url": "https://www.ncbi.nlm.nih.gov/snp/rs532572215#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs532572215", "url": "http://gnomad.broadinstitute.org/awesome?query=rs532572215", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs532572215", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs532572215", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "M", "down_seq": "RKSLYLLIVGILIAYYIYTP", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151814166", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs532572215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532572215" }, { "id": "rs532572215", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs532572215" }, { "id": "rs532572215", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532572215" }, { "id": "rs532572215", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs532572215#frequency_tab" }, { "id": "rs532572215", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs532572215" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814167", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs532572215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532572215" }, { "id": "rs532572215", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs532572215" }, { "id": "rs532572215", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532572215" }, { "id": "rs532572215", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs532572215#frequency_tab" }, { "id": "rs532572215", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs532572215" }, { "id": "rs532572215", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs532572215" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151814167", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151814166", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "P22760-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.7.7", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.301.301", "start_pos": 301, "end_pos": 301, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "VNWSSLLPERFIKGHVYNNP", "down_seq": "YGSSELAKKYPGFLDVRAAP", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827875", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N301", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.282.282", "categories": [ "glycosylation_flag", "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.283.283", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.304.304", "start_pos": 304, "end_pos": 304, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs74742076", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs74742076", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs74742076", "url": "https://www.ncbi.nlm.nih.gov/snp/rs74742076#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SSLLPERFIKGHVYNNPNYG", "down_seq": "SELAKKYPGFLDVRAAPLLA", "snv": [ { "evidence": [ { "id": "rs74742076", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs74742076" }, { "id": "rs74742076", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs74742076#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827884", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S304", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.305.305", "start_pos": 305, "end_pos": 305, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs80193057", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80193057", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs80193057", "url": "https://www.ensembl.org/id/rs80193057", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1370026877", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370026877", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1370026877", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1370026877", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SLLPERFIKGHVYNNPNYGS", "down_seq": "ELAKKYPGFLDVRAAPLLAD", "snv": [ { "evidence": [ { "id": "rs80193057", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80193057" }, { "id": "rs80193057", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs80193057" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827886", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S305", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1370026877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370026877" }, { "id": "rs1370026877", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1370026877" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827885", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S305", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.306.306", "start_pos": 306, "end_pos": 306, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs79925965", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79925965", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs79925965", "url": "https://www.ensembl.org/id/rs79925965", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1440033693", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1440033693", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1440033693", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1440033693", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "LLPERFIKGHVYNNPNYGSS", "down_seq": "LAKKYPGFLDVRAAPLLADD", "snv": [ { "evidence": [ { "id": "rs79925965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79925965" }, { "id": "rs79925965", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs79925965" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827888", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E306", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1440033693", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1440033693" }, { "id": "rs1440033693", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1440033693" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827889", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E306", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs79925965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79925965" }, { "id": "rs79925965", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs79925965" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827888", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E306", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.307.307", "start_pos": 307, "end_pos": 307, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "LPERFIKGHVYNNPNYGSSE", "down_seq": "AKKYPGFLDVRAAPLLADDN", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827892", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L307", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.308.308", "start_pos": 308, "end_pos": 308, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1716569563", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716569563", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716569563", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716569563#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1170940282", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170940282", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1170940282", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1170940282#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1170940282", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1170940282", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "PERFIKGHVYNNPNYGSSEL", "down_seq": "KKYPGFLDVRAAPLLADDNK", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs1716569563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716569563" }, { "id": "rs1716569563", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716569563#frequency_tab" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827894", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "A308", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1170940282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170940282" }, { "id": "rs1170940282", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1170940282#frequency_tab" }, { "id": "rs1170940282", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1170940282" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827895", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A308", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.309.309", "start_pos": 309, "end_pos": 309, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs986583515", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs986583515", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs986583515", "url": "https://www.ncbi.nlm.nih.gov/snp/rs986583515#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs199967817", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199967817", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs199967817", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199967817", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs199967817", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199967817#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs199967817", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199967817", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ERFIKGHVYNNPNYGSSELA", "down_seq": "KYPGFLDVRAAPLLADDNKL", "snv": [ { "evidence": [ { "id": "rs986583515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs986583515" }, { "id": "rs986583515", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs986583515#frequency_tab" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827897", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K309", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199967817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199967817" }, { "id": "rs199967817", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199967817" }, { "id": "rs199967817", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199967817#frequency_tab" }, { "id": "rs199967817", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199967817" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827898", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K309", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.30.30", "start_pos": 30, "end_pos": 30, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs142736119", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142736119", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs142736119", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142736119#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs371843582", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371843582", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs371843582", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371843582", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs371843582", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371843582#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs371843582", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371843582", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "IVGILIAYYIYTPLPDNVEE", "down_seq": "WRMMWINAHLKTIQNLATFV", "snv": [ { "evidence": [ { "id": "rs142736119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142736119" }, { "id": "rs142736119", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142736119#frequency_tab" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814251", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P30", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371843582", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371843582" }, { "id": "rs371843582", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371843582" }, { "id": "rs371843582", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371843582#frequency_tab" }, { "id": "rs371843582", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371843582" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814250", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P30", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P22760-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.50.50", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.310.310", "start_pos": 310, "end_pos": 310, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1374269165", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374269165", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1374269165", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1374269165", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "RFIKGHVYNNPNYGSSELAK", "down_seq": "YPGFLDVRAAPLLADDNKLR", "snv": [ { "evidence": [ { "id": "rs1374269165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374269165" }, { "id": "rs1374269165", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1374269165" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827901", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K310", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.311.311", "start_pos": 311, "end_pos": 311, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "FIKGHVYNNPNYGSSELAKK", "down_seq": "PGFLDVRAAPLLADDNKLRG", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827905", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y311", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.313.313", "start_pos": 313, "end_pos": 313, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs867256779", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867256779", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs867256779", "url": "https://www.ensembl.org/id/rs867256779", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "KGHVYNNPNYGSSELAKKYP", "down_seq": "FLDVRAAPLLADDNKLRGLP", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs867256779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867256779" }, { "id": "rs867256779", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867256779" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827910", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G313", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.293.293", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.314.314", "start_pos": 314, "end_pos": 314, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1576647226", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1576647226", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1576647226", "url": "https://www.ensembl.org/id/rs1576647226", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "GHVYNNPNYGSSELAKKYPG", "down_seq": "LDVRAAPLLADDNKLRGLPL", "snv": [ { "evidence": [ { "id": "rs1576647226", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1576647226" }, { "id": "rs1576647226", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1576647226" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827912", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F314", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.316.316", "start_pos": 316, "end_pos": 316, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1246605143", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1246605143", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1246605143", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1246605143", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VYNNPNYGSSELAKKYPGFL", "down_seq": "VRAAPLLADDNKLRGLPLTY", "snv": [ { "evidence": [ { "id": "rs1246605143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1246605143" }, { "id": "rs1246605143", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1246605143" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827920", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D316", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.317.317", "start_pos": 317, "end_pos": 317, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716571042", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716571042", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716571042", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716571042", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "YNNPNYGSSELAKKYPGFLD", "down_seq": "RAAPLLADDNKLRGLPLTYV", "snv": [ { "evidence": [ { "id": "rs1716571042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716571042" }, { "id": "rs1716571042", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716571042" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827921", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V317", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.297.297", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.318.318", "start_pos": 318, "end_pos": 318, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs201316472", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201316472", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs201316472", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201316472", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs201316472", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201316472", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NNPNYGSSELAKKYPGFLDV", "down_seq": "AAPLLADDNKLRGLPLTYVI", "snv": [ { "evidence": [ { "id": "rs201316472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201316472" }, { "id": "rs201316472", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201316472" }, { "id": "rs201316472", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201316472" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827925", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R318", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201316472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201316472" }, { "id": "rs201316472", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201316472" }, { "id": "rs201316472", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201316472" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827925", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R318", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.319.319", "start_pos": 319, "end_pos": 319, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs766695796", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766695796", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766695796", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766695796", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766695796", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766695796", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "NPNYGSSELAKKYPGFLDVR", "down_seq": "APLLADDNKLRGLPLTYVIT", "snv": [ { "evidence": [ { "id": "rs766695796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766695796" }, { "id": "rs766695796", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766695796" }, { "id": "rs766695796", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766695796" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827928", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A319", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827927", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A319", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.31.31", "start_pos": 31, "end_pos": 31, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs751320452", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751320452", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751320452", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751320452", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751320452", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751320452", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "VGILIAYYIYTPLPDNVEEP", "down_seq": "RMMWINAHLKTIQNLATFVE", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151814255", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "W31", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs751320452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751320452" }, { "id": "rs751320452", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751320452" }, { "id": "rs751320452", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751320452" } ], "glycoeffect": [], "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814253", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W31", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.50.50", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.320.320", "start_pos": 320, "end_pos": 320, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs746202783", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746202783", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs746202783", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746202783", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs746202783", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746202783#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs746202783", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746202783", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "PNYGSSELAKKYPGFLDVRA", "down_seq": "PLLADDNKLRGLPLTYVITC", "snv": [ { "evidence": [ { "id": "rs746202783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746202783" }, { "id": "rs746202783", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746202783" }, { "id": "rs746202783", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746202783#frequency_tab" }, { "id": "rs746202783", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746202783" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827931", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A320", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs746202783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746202783" }, { "id": "rs746202783", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746202783" }, { "id": "rs746202783", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746202783#frequency_tab" }, { "id": "rs746202783", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746202783" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827931", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A320", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.321.321", "start_pos": 321, "end_pos": 321, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs768419821", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768419821", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768419821", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768419821", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768419821", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768419821", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "NYGSSELAKKYPGFLDVRAA", "down_seq": "LLADDNKLRGLPLTYVITCQ", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827933", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P321", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs768419821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768419821" }, { "id": "rs768419821", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768419821" }, { "id": "rs768419821", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768419821" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827933", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P321", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.322.322", "start_pos": 322, "end_pos": 322, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs200722381", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200722381", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200722381", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200722381", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs200722381", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200722381", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1716573192", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716573192", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716573192", "url": "https://www.ensembl.org/id/rs1716573192", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "YGSSELAKKYPGFLDVRAAP", "down_seq": "LADDNKLRGLPLTYVITCQY", "snv": [ { "evidence": [ { "id": "rs200722381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200722381" }, { "id": "rs200722381", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200722381" }, { "id": "rs200722381", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200722381" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827938", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1716573192", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716573192" }, { "id": "rs1716573192", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1716573192" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827937", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L322", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.323.323", "start_pos": 323, "end_pos": 323, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs565688181", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565688181", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs565688181", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565688181", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs565688181", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565688181", "database": "ExAC", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "GSSELAKKYPGFLDVRAAPL", "down_seq": "ADDNKLRGLPLTYVITCQYD", "snv": [ { "evidence": [ { "id": "rs565688181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565688181" }, { "id": "rs565688181", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565688181" }, { "id": "rs565688181", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565688181" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827939", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "L323", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.324.324", "start_pos": 324, "end_pos": 324, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1224765728", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1224765728", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1224765728", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1224765728#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1224765728", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1224765728", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SSELAKKYPGFLDVRAAPLL", "down_seq": "DDNKLRGLPLTYVITCQYDL", "snv": [ { "evidence": [ { "id": "rs1224765728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1224765728" }, { "id": "rs1224765728", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1224765728#frequency_tab" }, { "id": "rs1224765728", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1224765728" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827943", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A324", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.325.325", "start_pos": 325, "end_pos": 325, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1033980745", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1033980745", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1033980745", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1033980745#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1033980745", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1033980745", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs148781705", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148781705", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs148781705", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148781705", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs148781705", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148781705", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs148781705", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148781705#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs148781705", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148781705", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SELAKKYPGFLDVRAAPLLA", "down_seq": "DNKLRGLPLTYVITCQYDLL", "snv": [ { "evidence": [ { "id": "rs1033980745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1033980745" }, { "id": "rs1033980745", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1033980745#frequency_tab" }, { "id": "rs1033980745", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1033980745" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827947", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D325", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs148781705", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148781705" }, { "id": "rs148781705", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148781705" }, { "id": "rs148781705", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148781705" }, { "id": "rs148781705", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148781705#frequency_tab" }, { "id": "rs148781705", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148781705" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827945", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000784929", "site_lbl": "D325", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.326.326", "start_pos": 326, "end_pos": 326, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1419354825", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1419354825", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1419354825", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1419354825", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ELAKKYPGFLDVRAAPLLAD", "down_seq": "NKLRGLPLTYVITCQYDLLR", "snv": [ { "evidence": [ { "id": "rs1419354825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1419354825" }, { "id": "rs1419354825", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1419354825" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827948", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D326", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.306.306", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.328.328", "start_pos": 328, "end_pos": 328, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1172573526", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1172573526", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1172573526", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1172573526", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "AKKYPGFLDVRAAPLLADDN", "down_seq": "LRGLPLTYVITCQYDLLRDD", "snv": [ { "evidence": [ { "id": "rs1172573526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1172573526" }, { "id": "rs1172573526", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1172573526" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827955", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K328", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827956", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K328", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1172573526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1172573526" }, { "id": "rs1172573526", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1172573526" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827955", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K328", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827955", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K328", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.32.32", "start_pos": 32, "end_pos": 32, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1436886941", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1436886941", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1436886941", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1436886941#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1436886941", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1436886941", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GILIAYYIYTPLPDNVEEPW", "down_seq": "MMWINAHLKTIQNLATFVEL", "snv": [ { "evidence": [ { "id": "rs1436886941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1436886941" }, { "id": "rs1436886941", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1436886941#frequency_tab" }, { "id": "rs1436886941", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1436886941" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814257", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R32", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151814257", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "R32", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.50.50", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.330.330", "start_pos": 330, "end_pos": 330, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs772674234", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772674234", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772674234", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772674234", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772674234", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772674234#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs772674234", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772674234", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs762922385", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762922385", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs762922385", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762922385", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs762922385", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762922385#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs762922385", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762922385", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KYPGFLDVRAAPLLADDNKL", "down_seq": "GLPLTYVITCQYDLLRDDGL", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs772674234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772674234" }, { "id": "rs772674234", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772674234" }, { "id": "rs772674234", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772674234#frequency_tab" }, { "id": "rs772674234", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772674234" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827960", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R330", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs762922385", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762922385" }, { "id": "rs762922385", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762922385" }, { "id": "rs762922385", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762922385#frequency_tab" }, { "id": "rs762922385", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762922385" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827961", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R330", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827961", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R330", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.310.310", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.331.331", "start_pos": 331, "end_pos": 331, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs770754775", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770754775", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs770754775", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770754775", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs770754775", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770754775", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "YPGFLDVRAAPLLADDNKLR", "down_seq": "LPLTYVITCQYDLLRDDGLM", "snv": [ { "evidence": [ { "id": "rs770754775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770754775" }, { "id": "rs770754775", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770754775" }, { "id": "rs770754775", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770754775" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827964", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G331", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.332.332", "start_pos": 332, "end_pos": 332, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716576598", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716576598", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716576598", "url": "https://www.ensembl.org/id/rs1716576598", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "PGFLDVRAAPLLADDNKLRG", "down_seq": "PLTYVITCQYDLLRDDGLMY", "snv": [ { "evidence": [ { "id": "rs1716576598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716576598" }, { "id": "rs1716576598", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1716576598" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827966", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L332", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.333.333", "start_pos": 333, "end_pos": 333, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1330099599", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1330099599", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1330099599", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1330099599#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1330099599", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1330099599", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "GFLDVRAAPLLADDNKLRGL", "down_seq": "LTYVITCQYDLLRDDGLMYV", "snv": [ { "evidence": [ { "id": "rs1330099599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1330099599" }, { "id": "rs1330099599", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1330099599#frequency_tab" }, { "id": "rs1330099599", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1330099599" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827969", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P333", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1330099599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1330099599" }, { "id": "rs1330099599", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1330099599#frequency_tab" }, { "id": "rs1330099599", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1330099599" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827969", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P333", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1330099599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1330099599" }, { "id": "rs1330099599", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1330099599#frequency_tab" }, { "id": "rs1330099599", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1330099599" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827969", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P333", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.334.334", "start_pos": 334, "end_pos": 334, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs774262376", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774262376", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774262376", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774262376", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774262376", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774262376", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "FLDVRAAPLLADDNKLRGLP", "down_seq": "TYVITCQYDLLRDDGLMYVT", "snv": [ { "evidence": [ { "id": "rs774262376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774262376" }, { "id": "rs774262376", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774262376" }, { "id": "rs774262376", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774262376" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827973", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L334", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.335.335", "start_pos": 335, "end_pos": 335, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs935282783", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs935282783", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs935282783", "url": "https://www.ncbi.nlm.nih.gov/snp/rs935282783#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs935282783", "url": "http://gnomad.broadinstitute.org/awesome?query=rs935282783", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LDVRAAPLLADDNKLRGLPL", "down_seq": "YVITCQYDLLRDDGLMYVTR", "snv": [ { "evidence": [ { "id": "rs935282783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs935282783" }, { "id": "rs935282783", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs935282783#frequency_tab" }, { "id": "rs935282783", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs935282783" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827975", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T335", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.316.316", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.337.337", "start_pos": 337, "end_pos": 337, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1716578059", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716578059", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716578059", "url": "https://www.ensembl.org/id/rs1716578059", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "VRAAPLLADDNKLRGLPLTY", "down_seq": "ITCQYDLLRDDGLMYVTRLR", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827982", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "V337", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1716578059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716578059" }, { "id": "rs1716578059", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1716578059" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827981", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V337", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.338.338", "start_pos": 338, "end_pos": 338, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs751987456", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751987456", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751987456", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751987456", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751987456", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751987456#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs751987456", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751987456", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1716578205", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716578205", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716578205", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716578205#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "RAAPLLADDNKLRGLPLTYV", "down_seq": "TCQYDLLRDDGLMYVTRLRN", "snv": [ { "evidence": [ { "id": "rs751987456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751987456" }, { "id": "rs751987456", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751987456" }, { "id": "rs751987456", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751987456#frequency_tab" }, { "id": "rs751987456", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751987456" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827985", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I338", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1716578205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716578205" }, { "id": "rs1716578205", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716578205#frequency_tab" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827984", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I338", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.339.339", "start_pos": 339, "end_pos": 339, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs915018015", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs915018015", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs915018015", "url": "https://www.ncbi.nlm.nih.gov/snp/rs915018015#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs915018015", "url": "http://gnomad.broadinstitute.org/awesome?query=rs915018015", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "AAPLLADDNKLRGLPLTYVI", "down_seq": "CQYDLLRDDGLMYVTRLRNT", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs915018015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs915018015" }, { "id": "rs915018015", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs915018015#frequency_tab" }, { "id": "rs915018015", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs915018015" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151827988", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T339", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs915018015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs915018015" }, { "id": "rs915018015", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs915018015#frequency_tab" }, { "id": "rs915018015", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs915018015" } ], "glycoeffect": [], "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827988", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T339", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.340.340", "start_pos": 340, "end_pos": 340, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs755238625", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755238625", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755238625", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755238625", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "APLLADDNKLRGLPLTYVIT", "down_seq": "QYDLLRDDGLMYVTRLRNTG", "snv": [ { "evidence": [ { "id": "rs755238625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755238625" }, { "id": "rs755238625", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755238625" } ], "glycoeffect": [], "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827991", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C340", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755238625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755238625" }, { "id": "rs755238625", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755238625" } ], "glycoeffect": [], "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827991", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C340", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.341.341", "start_pos": 341, "end_pos": 341, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1273056861", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1273056861", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1273056861", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1273056861", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1311311323", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1311311323", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1311311323", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1311311323", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "PLLADDNKLRGLPLTYVITC", "down_seq": "YDLLRDDGLMYVTRLRNTGV", "snv": [ { "evidence": [ { "id": "rs1273056861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1273056861" }, { "id": "rs1273056861", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1273056861" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827993", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q341", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1311311323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1311311323" }, { "id": "rs1311311323", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1311311323" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827994", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q341", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.321.321", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.343.343", "start_pos": 343, "end_pos": 343, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1414906327", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1414906327", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1414906327", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1414906327", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LADDNKLRGLPLTYVITCQY", "down_seq": "LLRDDGLMYVTRLRNTGVQV", "snv": [ { "evidence": [ { "id": "rs1414906327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1414906327" }, { "id": "rs1414906327", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1414906327" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151827999", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D343", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.344.344", "start_pos": 344, "end_pos": 344, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1716580174", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716580174", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716580174", "url": "https://www.ensembl.org/id/rs1716580174", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "ADDNKLRGLPLTYVITCQYD", "down_seq": "LRDDGLMYVTRLRNTGVQVT", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151828002", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L344", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1716580174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716580174" }, { "id": "rs1716580174", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1716580174" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828002", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L344", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.345.345", "start_pos": 345, "end_pos": 345, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs760930751", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760930751", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs760930751", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760930751", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs760930751", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760930751", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs767276945", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767276945", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767276945", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767276945", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767276945", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767276945", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "DDNKLRGLPLTYVITCQYDL", "down_seq": "RDDGLMYVTRLRNTGVQVTH", "snv": [ { "evidence": [ { "id": "rs760930751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760930751" }, { "id": "rs760930751", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760930751" }, { "id": "rs760930751", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760930751" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828006", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L345", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767276945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767276945" }, { "id": "rs767276945", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767276945" }, { "id": "rs767276945", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767276945" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828005", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L345", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.325.325", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.346.346", "start_pos": 346, "end_pos": 346, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DNKLRGLPLTYVITCQYDLL", "down_seq": "DDGLMYVTRLRNTGVQVTHN", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151828009", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R346", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.348.348", "start_pos": 348, "end_pos": 348, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KLRGLPLTYVITCQYDLLRD", "down_seq": "GLMYVTRLRNTGVQVTHNHV", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151828014", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D348", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.349.349", "start_pos": 349, "end_pos": 349, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LRGLPLTYVITCQYDLLRDD", "down_seq": "LMYVTRLRNTGVQVTHNHVE", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151828018", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G349", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151828017", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G349", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.34.34", "start_pos": 34, "end_pos": 34, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748240373", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748240373", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748240373", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748240373", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748240373", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748240373#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs748240373", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748240373", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "LIAYYIYTPLPDNVEEPWRM", "down_seq": "WINAHLKTIQNLATFVELLG", "snv": [ { "evidence": [ { "id": "rs748240373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748240373" }, { "id": "rs748240373", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748240373" }, { "id": "rs748240373", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748240373#frequency_tab" }, { "id": "rs748240373", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748240373" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814263", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M34", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748240373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748240373" }, { "id": "rs748240373", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748240373" }, { "id": "rs748240373", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748240373#frequency_tab" }, { "id": "rs748240373", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748240373" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814263", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M34", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.54.54", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.351.351", "start_pos": 351, "end_pos": 351, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1188410286", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1188410286", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1188410286", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1188410286", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "GLPLTYVITCQYDLLRDDGL", "down_seq": "YVTRLRNTGVQVTHNHVEDG", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs1188410286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1188410286" }, { "id": "rs1188410286", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1188410286" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "M", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151828023", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "M351", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.352.352", "start_pos": 352, "end_pos": 352, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs753944393", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753944393", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753944393", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753944393", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753944393", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753944393", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LPLTYVITCQYDLLRDDGLM", "down_seq": "VTRLRNTGVQVTHNHVEDGF", "snv": [ { "evidence": [ { "id": "rs753944393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753944393" }, { "id": "rs753944393", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753944393" }, { "id": "rs753944393", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753944393" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828027", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y352", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.332.332", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.354.354", "start_pos": 354, "end_pos": 354, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs553941608", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs553941608", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs553941608", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs553941608", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs553941608", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs553941608", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs553941608", "url": "http://gnomad.broadinstitute.org/awesome?query=rs553941608", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LTYVITCQYDLLRDDGLMYV", "down_seq": "RLRNTGVQVTHNHVEDGFHG", "snv": [ { "evidence": [ { "id": "rs553941608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs553941608" }, { "id": "rs553941608", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs553941608" }, { "id": "rs553941608", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs553941608" }, { "id": "rs553941608", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs553941608" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828033", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "T354", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.355.355", "start_pos": 355, "end_pos": 355, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs781479499", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781479499", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781479499", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781479499", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs781479499", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781479499#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs781479499", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781479499", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs750872791", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750872791", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750872791", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750872791", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750872791", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750872791#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs750872791", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750872791", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TYVITCQYDLLRDDGLMYVT", "down_seq": "LRNTGVQVTHNHVEDGFHGA", "snv": [ { "evidence": [ { "id": "rs781479499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781479499" }, { "id": "rs781479499", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781479499" }, { "id": "rs781479499", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781479499#frequency_tab" }, { "id": "rs781479499", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781479499" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828035", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R355", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs750872791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750872791" }, { "id": "rs750872791", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750872791" }, { "id": "rs750872791", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750872791#frequency_tab" }, { "id": "rs750872791", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750872791" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "3", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151828036", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R355", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.375.375", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.357.357", "start_pos": 357, "end_pos": 357, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs570844862", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570844862", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs570844862", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs570844862", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs570844862", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570844862", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs570844862", "url": "http://gnomad.broadinstitute.org/awesome?query=rs570844862", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs141982674", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141982674", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs141982674", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141982674", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs141982674", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141982674", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs141982674", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141982674#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs141982674", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141982674", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VITCQYDLLRDDGLMYVTRL", "down_seq": "NTGVQVTHNHVEDGFHGAFS", "snv": [ { "evidence": [ { "id": "rs570844862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570844862" }, { "id": "rs570844862", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs570844862" }, { "id": "rs570844862", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570844862" }, { "id": "rs570844862", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs570844862" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828041", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R357", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs141982674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141982674" }, { "id": "rs141982674", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141982674" }, { "id": "rs141982674", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141982674" }, { "id": "rs141982674", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141982674#frequency_tab" }, { "id": "rs141982674", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141982674" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828042", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "R357", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs141982674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141982674" }, { "id": "rs141982674", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141982674" }, { "id": "rs141982674", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141982674" }, { "id": "rs141982674", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141982674#frequency_tab" }, { "id": "rs141982674", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141982674" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828042", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "R357", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs141982674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141982674" }, { "id": "rs141982674", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141982674" }, { "id": "rs141982674", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141982674" }, { "id": "rs141982674", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141982674#frequency_tab" }, { "id": "rs141982674", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141982674" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828042", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "R357", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.337.337", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.377.377", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.358.358", "start_pos": 358, "end_pos": 358, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716583625", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716583625", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716583625", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716583625#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ITCQYDLLRDDGLMYVTRLR", "down_seq": "TGVQVTHNHVEDGFHGAFSF", "snv": [ { "evidence": [ { "id": "rs1716583625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716583625" }, { "id": "rs1716583625", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716583625#frequency_tab" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828045", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N358", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.378.378", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.359.359", "start_pos": 359, "end_pos": 359, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1036060342", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1036060342", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1036060342", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1036060342#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1036060342", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1036060342", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs755736454", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755736454", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755736454", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755736454", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755736454", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755736454", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TCQYDLLRDDGLMYVTRLRN", "down_seq": "GVQVTHNHVEDGFHGAFSFL", "snv": [ { "evidence": [ { "id": "rs1036060342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1036060342" }, { "id": "rs1036060342", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1036060342#frequency_tab" }, { "id": "rs1036060342", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1036060342" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828047", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T359", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755736454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755736454" }, { "id": "rs755736454", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755736454" }, { "id": "rs755736454", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755736454" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828048", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T359", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1036060342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1036060342" }, { "id": "rs1036060342", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1036060342#frequency_tab" }, { "id": "rs1036060342", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1036060342" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828047", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T359", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.378.378", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.379.379", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.35.35", "start_pos": 35, "end_pos": 35, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs866257656", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866257656", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs866257656", "url": "https://www.ensembl.org/id/rs866257656", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "IAYYIYTPLPDNVEEPWRMM", "down_seq": "INAHLKTIQNLATFVELLGL", "snv": [ { "evidence": [ { "id": "rs866257656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866257656" }, { "id": "rs866257656", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs866257656" } ], "glycoeffect": [], "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814265", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W35", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.15.15", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.55.55", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.362.362", "start_pos": 362, "end_pos": 362, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs925748585", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs925748585", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs925748585", "url": "https://www.ensembl.org/id/rs925748585", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1576647343", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1576647343", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1576647343", "url": "https://www.ensembl.org/id/rs1576647343", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "YDLLRDDGLMYVTRLRNTGV", "down_seq": "VTHNHVEDGFHGAFSFLGLK", "snv": [ { "evidence": [ { "id": "rs925748585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs925748585" }, { "id": "rs925748585", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs925748585" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828056", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q362", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs925748585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs925748585" }, { "id": "rs925748585", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs925748585" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828056", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q362", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1576647343", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1576647343" }, { "id": "rs1576647343", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1576647343" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828058", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q362", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.378.378", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.381.381", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.363.363", "start_pos": 363, "end_pos": 363, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs146149654", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146149654", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs146149654", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146149654", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs146149654", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146149654#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs146149654", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146149654", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "DLLRDDGLMYVTRLRNTGVQ", "down_seq": "THNHVEDGFHGAFSFLGLKI", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151828060", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V363", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs146149654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146149654" }, { "id": "rs146149654", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146149654" }, { "id": "rs146149654", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146149654#frequency_tab" }, { "id": "rs146149654", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146149654" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828059", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V363", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs146149654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146149654" }, { "id": "rs146149654", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146149654" }, { "id": "rs146149654", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146149654#frequency_tab" }, { "id": "rs146149654", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146149654" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828059", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V363", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.343.343", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.344.344", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.345.345", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.378.378", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.383.383", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.366.366", "start_pos": 366, "end_pos": 366, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716584732", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716584732", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716584732", "url": "https://www.ensembl.org/id/rs1716584732", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs140197497", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140197497", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs140197497", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140197497", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs140197497", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140197497", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs140197497", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140197497#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs140197497", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140197497", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "RDDGLMYVTRLRNTGVQVTH", "down_seq": "HVEDGFHGAFSFLGLKISHR", "snv": [ { "evidence": [ { "id": "rs1716584732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716584732" }, { "id": "rs1716584732", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1716584732" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828068", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N366", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs140197497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140197497" }, { "id": "rs140197497", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140197497" }, { "id": "rs140197497", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140197497" }, { "id": "rs140197497", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140197497#frequency_tab" }, { "id": "rs140197497", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140197497" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151828070", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N366", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.348.348", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.378.378", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.386.386", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.369.369", "start_pos": 369, "end_pos": 369, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs745762186", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745762186", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs745762186", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745762186", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs745762186", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745762186", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1323753940", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1323753940", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1323753940", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1323753940#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1323753940", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1323753940", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "GLMYVTRLRNTGVQVTHNHV", "down_seq": "DGFHGAFSFLGLKISHRLIN", "snv": [ { "evidence": [ { "id": "rs745762186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745762186" }, { "id": "rs745762186", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745762186" }, { "id": "rs745762186", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745762186" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828078", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E369", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1323753940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1323753940" }, { "id": "rs1323753940", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1323753940#frequency_tab" }, { "id": "rs1323753940", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1323753940" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828077", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E369", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.378.378", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.389.389", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.371.371", "start_pos": 371, "end_pos": 371, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "MYVTRLRNTGVQVTHNHVED", "down_seq": "FHGAFSFLGLKISHRLINQY", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151828084", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G371", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.378.378", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.391.391", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.372.372", "start_pos": 372, "end_pos": 372, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs775393645", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775393645", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775393645", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775393645", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775393645", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775393645#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs775393645", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775393645", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "YVTRLRNTGVQVTHNHVEDG", "down_seq": "HGAFSFLGLKISHRLINQYI", "snv": [ { "evidence": [ { "id": "rs775393645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775393645" }, { "id": "rs775393645", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775393645" }, { "id": "rs775393645", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775393645#frequency_tab" }, { "id": "rs775393645", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775393645" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828086", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F372", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.378.378", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.392.392", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.373.373", "start_pos": 373, "end_pos": 373, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs761025434", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761025434", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs761025434", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761025434", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs761025434", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761025434", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "VTRLRNTGVQVTHNHVEDGF", "down_seq": "GAFSFLGLKISHRLINQYIE", "snv": [ { "evidence": [ { "id": "rs761025434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761025434" }, { "id": "rs761025434", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761025434" }, { "id": "rs761025434", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761025434" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828089", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H373", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.378.378", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.392.392", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.393.393", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.374.374", "start_pos": 374, "end_pos": 374, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs776915734", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776915734", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776915734", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776915734", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776915734", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776915734", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1716586252", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716586252", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716586252", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716586252#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "TRLRNTGVQVTHNHVEDGFH", "down_seq": "AFSFLGLKISHRLINQYIEW", "snv": [ { "evidence": [ { "id": "rs776915734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776915734" }, { "id": "rs776915734", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776915734" }, { "id": "rs776915734", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776915734" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828092", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G374", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs1716586252", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716586252" }, { "id": "rs1716586252", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716586252#frequency_tab" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151828093", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "G374", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.378.378", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.392.392", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.394.394", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.375.375", "start_pos": 375, "end_pos": 375, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs142455718", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142455718", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs142455718", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs142455718", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs142455718", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142455718", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs142455718", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142455718#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs142455718", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142455718", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1198366700", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1198366700", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1198366700", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1198366700#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1198366700", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1198366700", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "RLRNTGVQVTHNHVEDGFHG", "down_seq": "FSFLGLKISHRLINQYIEWL", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs142455718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142455718" }, { "id": "rs142455718", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs142455718" }, { "id": "rs142455718", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142455718" }, { "id": "rs142455718", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142455718#frequency_tab" }, { "id": "rs142455718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142455718" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151828096", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "A375", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1198366700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1198366700" }, { "id": "rs1198366700", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1198366700#frequency_tab" }, { "id": "rs1198366700", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1198366700" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828095", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A375", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs142455718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142455718" }, { "id": "rs142455718", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs142455718" }, { "id": "rs142455718", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142455718" }, { "id": "rs142455718", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142455718#frequency_tab" }, { "id": "rs142455718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142455718" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828096", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "A375", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.378.378", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.392.392", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.395.395", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.376.376", "start_pos": 376, "end_pos": 376, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs187652875", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs187652875", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs187652875", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs187652875", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs187652875", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs187652875", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs187652875", "url": "https://www.ncbi.nlm.nih.gov/snp/rs187652875#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs187652875", "url": "http://gnomad.broadinstitute.org/awesome?query=rs187652875", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1716586788", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716586788", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716586788", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716586788", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "LRNTGVQVTHNHVEDGFHGA", "down_seq": "SFLGLKISHRLINQYIEWLK", "snv": [ { "evidence": [ { "id": "rs187652875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs187652875" }, { "id": "rs187652875", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs187652875" }, { "id": "rs187652875", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs187652875" }, { "id": "rs187652875", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs187652875#frequency_tab" }, { "id": "rs187652875", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs187652875" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828098", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "F376", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1716586788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716586788" }, { "id": "rs1716586788", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716586788" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828099", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F376", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.378.378", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.392.392", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.396.396", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.377.377", "start_pos": 377, "end_pos": 377, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs867619972", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867619972", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs867619972", "url": "https://www.ncbi.nlm.nih.gov/snp/rs867619972#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs867619972", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867619972", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RNTGVQVTHNHVEDGFHGAF", "down_seq": "FLGLKISHRLINQYIEWLKE", "snv": [ { "evidence": [ { "id": "rs867619972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867619972" }, { "id": "rs867619972", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs867619972#frequency_tab" }, { "id": "rs867619972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867619972" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828102", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S377", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" }, { "id": "rs867619972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867619972" }, { "id": "rs867619972", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs867619972#frequency_tab" }, { "id": "rs867619972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867619972" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "5", "frequency": "0.2", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151828102", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S377", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.378.378", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.392.392", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.397.397", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.378.378", "start_pos": 378, "end_pos": 378, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2108038143", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2108038143", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2108038143", "url": "https://www.ensembl.org/id/rs2108038143", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "NTGVQVTHNHVEDGFHGAFS", "down_seq": "LGLKISHRLINQYIEWLKEN", "snv": [ { "evidence": [ { "id": "rs2108038143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2108038143" }, { "id": "rs2108038143", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2108038143" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828104", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F378", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.392.392", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.398.398", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.379.379", "start_pos": 379, "end_pos": 379, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "TGVQVTHNHVEDGFHGAFSF", "down_seq": "GLKISHRLINQYIEWLKENL", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151828107", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L379", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151828107", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L379", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.378.378", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.392.392", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.398.398", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.399.399", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.37.37", "start_pos": 37, "end_pos": 37, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs112335016", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs112335016", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs112335016", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs112335016", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs112335016", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs112335016", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs112335016", "url": "https://www.ncbi.nlm.nih.gov/snp/rs112335016#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs112335016", "url": "http://gnomad.broadinstitute.org/awesome?query=rs112335016", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "YYIYTPLPDNVEEPWRMMWI", "down_seq": "AHLKTIQNLATFVELLGLHH", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151814271", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N37", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs112335016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs112335016" }, { "id": "rs112335016", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs112335016" }, { "id": "rs112335016", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs112335016" }, { "id": "rs112335016", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs112335016#frequency_tab" }, { "id": "rs112335016", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs112335016" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151814273", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "N37", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151814272", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N37", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P22760-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P22760-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P22760-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P22760-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.32.32", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.38.38", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.50.50", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P22760-1.57.57", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.380.380", "start_pos": 380, "end_pos": 380, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P22760", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1716587170", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716587170", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716587170", "url": "https://www.ensembl.org/id/rs1716587170", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "GVQVTHNHVEDGFHGAFSFL", "down_seq": "LKISHRLINQYIEWLKENL", "snv": [ { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151828110", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G380", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1716587170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716587170" }, { "id": "rs1716587170", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1716587170" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828111", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G380", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22760", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22760" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate esterase).", "chr_id": "3", "chr_pos": "151828110", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G380", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.378.378", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P22760-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P22760-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.392.392", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.398.398", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P22760-1.399.399", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P22760-1.381.381", "start_pos": 381, "end_pos": 381, "uniprot_canonical_ac": "P22760-1", "length": 399, "uniprot_id": "AAAD_HUMAN", "protein_name": "Arylacetamide deacetylase", "refseq_ac": "NP_001077", "refseq_name": "arylacetamide deacetylase", "gene_name": "AADAC", "gene_names_uniprotkb": "AADAC; DAC", "gene_names_refseq": "AADAC; CES5A1; DAC", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22760", "url": "https://www.uniprot.org/uniprotkb/P22760" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1716587285", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716587285", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1716587285", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716587285#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1716587285", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716587285", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "VQVTHNHVEDGFHGAFSFLG", "down_seq": "KISHRLINQYIEWLKENL", "snv": [ { "evidence": [ { "id": "rs1716587285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1716587285" }, { "id": "rs1716587285", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1716587285#frequency_tab" }, { "id": "rs1716587285", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1716587285" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "3", "chr_pos": "151828113", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L381", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "282", "end_pos": "282" }, { "start_pos": "78", "end_pos": "78" } ] }, { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "101", "end_pos": "101" }, { "start_pos": "102", "end_pos": "102" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "110", "end_pos": "110" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "119", "end_pos": "119" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "135", "end_pos": "135" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "148", "end_pos": "148" }, { "start_pos": "14", "end_pos": "14" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "152", "end_pos": "152" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "15", "end_pos": "15" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "170", "end_pos": "170" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "217", "end_pos": "217" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "241", "end_pos": "241" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "264", "end_pos": "264" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "297", "end_pos": "297" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "309", "end_pos": "309" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "310", "end_pos": "310" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "332", "end_pos": "332" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "344", "end_pos": "344" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "348", "end_pos": "348" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "362", "end_pos": "362" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "378", "end_pos": "378" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "3", "end_pos": "3" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "7", "end_pos": "7" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "82", "end_pos": "82" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "8", "end_pos": "8" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P22760-1.362.362", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "P22760-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P22760-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P22760-1.369.369", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P22760-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P22760-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P22760-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P22760-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P22760-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P22760-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P22760-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P22760-1.378.378", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P22760-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P22760-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P22760-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P22760-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P22760-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P22760-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P22760-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P22760-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P22760-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P22760-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P22760-1.392.392", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P22760-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P22760-1.394.394", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P22760-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P22760-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P22760-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P22760-1.398.398", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P22760-1.399.399", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] } ]